Split (2)

train · 35.2k rows

question stringlengths 84 268	answer stringlengths 6 879	reference_sequence stringlengths 4.1k 4.1k	mutated_sequence stringlengths 4.1k 4.1k	cleaned_pathogenicity stringclasses 2 values	__index_level_0__ int64 67 343k
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 45507544, gene MMACHC (metabolism of cobalamin associated C): what disease(s) if pathogenic?	pathogenic; ['Cobalamin_C_disease']	GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTT	GTTACCCAGGCTGGTCTAAAACTCTTGGCCCCAAGCAGTCCTCCTACCTCAGCCTCCCAAAGTGCTGGGATTGCAGGCATGAGCCACCGCGCCGAGCCTAAAAACAGTATTTTAAGAAACTGCCTGGGCTGGGCCCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCCAAGTCAGGTGGATCACGAGGTCAGGAGATCGAGACCACCCTGGCCAACATGGTGAAACCTCATCTCTACTAAAAATACAAAAATTAGCCGGGCGTGGTGGCACGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGGGAATCACTTGAACCCGGGAGGCGGAGGTTGCGGTGAGCCTAGATCACGCCACTGCACTCTAACCTGGGCAACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAACAAAACTGCCTGTTCTCTCCAAATTCATCTCTAGAGTTAGGGTTATATAGCCTGGAACTATGATCTCGTCTTTTGATCTGTCTGTATGGAGATGCTCTGGATATAGTAAAATTTTAATCTATTATAACCCCTTGATCTTCAGTGAAGACATAGCTTGCTGCCACTGATAGTTTCCCCTGATGACATATCAAAAGGATAAAGAAGTGCTGGTTGGGAAGAGACTGGTGGAACCACATCGTTTTGTGTCATTTGAGGATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTNNNN	pathogenic	8,817
Does the genetic variant at chromosome 1, position 45508219, impacting gene MMACHC (metabolism of cobalamin associated C), appear benign or pathogenic? If pathogenic, name the associated disease(s).	pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']	GATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGA	GATGAGTTGGACTGTGGCATGAACGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAG	pathogenic	8,823
Variant at chromosome 1, position 45508242, gene MMACHC (metabolism of cobalamin associated C): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.	pathogenic; ['Cobalamin_C_disease']	CGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACA	CGGCATTGAGGGTTCAGGTGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACANNNN	pathogenic	8,825
Evaluate the clinical significance of the mutation at chromosome 1, position 45508260 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']	TGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCC	TGGCTTTCTCCCTCTCAGGCTTGGCTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCNNNN	pathogenic	8,829
Does the variant impacting MMACHC (metabolism of cobalamin associated C) on chromosome 1, position 45508284, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Cobalamin_C_disease', 'likely other unspecified diseases']	CTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCT	CTGCAGCAACATGCTTCTCCAGATTAACAATATTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTN	pathogenic	8,832
Regarding the variant at chromosome 1 and position 45508316, affecting gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Cobalamin_C_disease', 'MMACHC-related_disorder']	TTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTG	TTTTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGNNN	pathogenic	8,833
Evaluate the clinical significance of the mutation at chromosome 1, position 45508318 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Cobalamin_C_disease']	TTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGAC	TTTCTGAACAACTGTCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTATACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACN	pathogenic	8,834
Variant chromosome 1, position 45508332, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? Disease(s)?	pathogenic; ['Cobalamin_C_disease']	TCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGA	TCATGGCATCATATGTTGATTCTGCTTTGAGAAATCTCCGATCTTGTTTTTGTCTTAAAATGCCTTCAAGGTGTTGGACTTGGAGGGCAAGTGCGTTGACAGCCACTTTGACTGTTCCTATGCCCTCATGCACCTCAGTCAGTTGTGGATTTAGGAACTCTGCTCTGTGGGTCCTCGTTCCTGGGTTTTTAATTTTCTTTTATTATTATTATTATTTTTTGAGGCGGGGGTCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTTGTCTCATTGCAACCTCTGCCTACCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGCGATTACAGGCGAGTGCCACCATGCTTGTCTAATTTTTGTATTTCTAGTACAGGCAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCAGACCTTAGGTGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGANN	pathogenic	8,838
Evaluate this variant at chromosome 1, position 45508798, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Cobalamin_C_disease']	GTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGC	GTGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCNN	pathogenic	8,842
Located at chromosome 1 position 45508799, the variant affecting gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Cobalamin_C_disease']	TGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCT	TGCTGGGATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATTATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGC	pathogenic	8,843
A mutation at chromosome position 45508805 on chromosome 1 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']	GATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCT	GATTATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTNN	pathogenic	8,845
Chromosome 1, position 45508809, gene MMACHC (metabolism of cobalamin associated C): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Cobalamin_C_disease']	ATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTC	ATAGCTGTGAGTCACCACACCTGGCGGGGTTTTTCATTTTCATTGGTTCATTTGTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGCTGGGGCTGGTTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCNNNNNNN	pathogenic	8,848
Variant chromosome 1, position 45508862, gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? Disease(s)?	pathogenic; ['Cobalamin_C_disease']	GTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTC	GTAGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATT	pathogenic	8,860
Mutation at chromosome 1, position 45508864, within MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Cobalamin_C_disease']	AGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCC	AGTTGGATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCN	pathogenic	8,861
Evaluate the clinical significance of the mutation at chromosome 1, position 45508869 in gene MMACHC (metabolism of cobalamin associated C): benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Cobalamin_C_disease']	GATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATAT	GATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATNNNNNNNNNNNNN	pathogenic	8,862
Variant in gene MMACHC (metabolism of cobalamin associated C), located at chromosome 1 position 45508870: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Cobalamin_C_disease']	ATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATC	ATGAGGCCTGAAATTATTTGCTGTCAGTCAGTCCTTCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCNN	pathogenic	8,863
Gene MMACHC (metabolism of cobalamin associated C) variant at chromosome 1, position 45508905—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	pathogenic; ['Cobalamin_C_disease']	TCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCA	TCAATAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGA	pathogenic	8,864
Mutation at chromosome 1, position 45508909, within MMACHC (metabolism of cobalamin associated C): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']	TAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTC	TAAATAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCNN	pathogenic	8,865
Variant in MMACHC (metabolism of cobalamin associated C), chromosome 1, position 45508913—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Cobalamin_C_disease']	TAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCT	TAAAATAATTCCCTGGGCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTC	pathogenic	8,866
Located at chromosome 1 position 45508929, the variant affecting gene MMACHC (metabolism of cobalamin associated C)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Cobalamin_C_disease']	GCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACA	GCCAGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAN	pathogenic	8,867
Gene mutation in MMACHC (metabolism of cobalamin associated C) at chromosome 1, position 45508932—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Cobalamin_C_disease', 'Methylmalonic_acidemia_with_homocystinuria_cblC']	AGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGG	AGGCTCGGTGGCTCACGCCTATATAATCCCAGCACTTTGGAAGGCCGAGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGG	pathogenic	8,871
Variant chromosome 1, position 45508979, gene MMACHC: benign or pathogenic? Disease(s)?	pathogenic; ['Cobalamin_C_disease']	AGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCT	AGGCAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTAACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGC	pathogenic	8,879
Regarding the variant found on chromosome 1 at position 45508982 in gene MMACHC: is it benign or pathogenic? If pathogenic, identify the disease(s).	pathogenic; ['Cobalamin_C_disease']	CAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCC	CAGGTGGGTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTC	pathogenic	8,883
Regarding the variant at chromosome 1 and position 45508989, affecting gene MMACHC: benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Cobalamin_C_disease']	GTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATA	GTCCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATANN	pathogenic	8,886
Chromosome 1, position 45508991, gene MMACHC: benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Cobalamin_C_disease']	CCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAA	CCTAGCTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAA	pathogenic	8,887
The chromosome 1, position 45508996 genetic variant in gene MMACHC: benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Cobalamin_C_disease']	CTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTC	CTGAGGCCAGGAGTTCGGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCN	pathogenic	8,888
The chromosome 1, position 45509021 genetic variant in gene MMACHC: benign or pathogenic? If pathogenic, indicate disease(s).	pathogenic; ['Cobalamin_C_disease', 'MMACHC-related_disorder', 'Methylmalonic_acidemia_with_homocystinuria_cblC']	CCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGAAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAGTTCAAGTTTAAT	CCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAACTAGCCAGGCGTGGTAGTGCACATCGTAATCCCAGCTGCTCGGGAGGCTGAGGCATGAGAATCACTTGAATCTGGGAGGCCAAAGTTGCAGTGGGCCAAGATCATGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAATAATGAATTCCCTGTCAAATTCAGTTGAGTTGCTTATAAAAATGCATCACATAGCGTCAGTGAAAATTCACTGAATGAGTGAGATGGAGGCTGGGGCAAAAGTGTGAGGCCTGAAGGTTAAGGTGTGGGCCAGGCTGAGGCCTAGACTGGCCCTCTCCAGCCTGGCCTGAACTTTCTGTTTCAGGTGGCATGGTACAATGAACTCTTGCCTCCAGCCTTCCACCTACCGCTGCCAGGACCTACCCTGGCCTTCCTGGTACTCAGCACGCCTGCCATGTTTGACCGGGCCCTCAAGCCCTTCTTGCAGAGCTGCCACCTCCGAATGCTGACTGACCCAGTGGACCAGTGTGTGGCCTACCATCTGGGCCGTGTTAGAGAGGTGAGGAAGGCTCAGTTTTCCCCCAGCTCCCAAACCTACAGCTGCCTCCAGTTCCTCCACACTCAATGCAGGATCTAGACCTAGGGCTAGGAGCCACTTCAAAGGTGAAATGATACCCTAAAGCCAGGCTTGACATTCTGTGATCTTTCCTCATTCTGCCTTCTCACACACCCAGGTTCCACCACCCTCATCTAGCAGTCCCCCAGTGTGAAATAGTCTCACTCACCCTACACTGATGGGCAACTATATGAACCTCAGACCAGGTTTTCCTTGGCCTCCAAGTGGAATAGGAATGAGTCCAACATTCCCCAGGCATTGCTTTGTCCTAGACCTGCAAGCTTTATGCTGTCCTTTTGAGGACAGAACAATATTCTCCCAACACACACTCACATATACACATAACTATGTACATACCCACTGGATCTCCCCAAAGCTGACCATGCCTTCCTTCACACCAGGTGTTATGTATTTCCCTTCAAACATGTGCCCTTCTGGAAATAACTATAACTATGTCCACACTGGAGCCTCCCAAGTTAAGGTCATGTTTTCCCTTCTGAGGACAGGACCATGTTCACACACACAAAACAAACTAGGGCTCCCTCGGACAAGGTCATAACTCCCCTCATGCTGACAGTACCCTCTATTTTGTCCACTGTTCCAGAGCCTCCCAGAGCTGCAGATAGAAATCATTGCTGACTACGAGGTGCACCCCAACCGACGCCCCAAGATCCTGGCCCAGACAGCAGCCCATGTAGCTGGGGCTGCTTACTACTACCAACGACAAGATGTGGAGGCTGACCCATGGGGGAACCAGGTGAGAGGGAAAATGTAAATAGAGGCTGAGATAGACTGGTAAAGGCCTCTCCCTACCAGGTCCCACATTCCTCAGCCTTCCCTGGATGGATGTGACACAACCCAGAACAAATTAGCTTTGTTCTGGATGGGAGGCAGTCCTGTCACATGCGGTTGTCTAACTGGGTACTCGTGAGATCAGAAAACTTAGTCTGCAGAACTGTCTTAGGATACAGGGGGCACAGCAGTGTTAAGACTAGTGGTGAGACTAGGAAGCCCAGCCCTTCCCTGTGCTCAGAATAGTTTATGAAAGGGTTTGCCAAGAAAAGGACAGAGGTTTATGTAGTCAGTGTACACTGAGTGGGAAGTGAACAGGCCTAGCTTGCAATGATGGCAGTTGACTTGGTGCCAAGGGGACCTCCATGACCTTGCTTTTCTTCACCCTCTCCCCAGCGCATATCAGGTGTGTGCATACACCCCCGATTTGGGGGCTGGTTTGCCATCCGAGGGGTAGTGCTGCTGCCAGGGATAGAGGTGCCAGATCTGCCACCCAGAAAACCTCATGACTGTGTACCTACAAGAGCTGACCGTATCGCCCTACTCGAAGGCTTCAATTTCCACTGGCGTGATTGGACTTACCGGGATGCTGTGACACCCCAGGAGCGCTACTCAGAAGAGCAGGCCTACTTCTCCACTCCACCTGCCCAACGATTGGCCCTATTGGGCTTGGCTCAGCCCTCAGAGAAGCCTAGTTCTCCCTCCCCGGACCTTCCCTTTACCACACCCGCCCCCAAGAAGCCTGGGAATCCCAGCAGAGCCCGGAGCTGGCTCAGCCCCAGGGTCTCACCACCTGCATCCCCTGGCCCTTGATTTTCTCCCATGTGGACCCTGATTTATGGTGGTACTTGCTAGGACTTAATTGGCTTTGGCAAAGCAAAAGGTTTTGAGTACAAGATTACTATTTTTGATAATATAGTAGAGATCTTCCATGAAGATAACAAGGCTCAAGGAAGTTAGGTTTGGCCAAGATAAAGGCCAGGGAACCAGAATTCCCATCTGCCTTCAAATGAGTTTTTTTTTTTTTTTTAGACAGAGTCTTACTCTGTCACCTAGGCTGGAGTGCAGTGGCACAGTCTCTACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTATCTGCCTCAGCCTCCTGAGTAGCTGGGATGACAGGTGCCTGCCACTACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCATCATATTGGCCAGGCTGGTCTTTAACTCCTGACCTCGTGATCCACCCATCTTGGCCTCCCAAAGTCCTGGGATTACAGGAATGAGCCACCGCACCCAGCCAAGACTCTATCTGTTCCCATTTCTAAGCAGTTCCCCAAGATGTTGTTACAGGGCCTAAGGGGCAAATATCCTCTAAAGAGTACCTACCAGCAGGGTGTGGTGGCTCCCGCCTGTAATCCCAGCACTCTGGGAGGCCGAGGCAGGTGGATCATGAGGTCGAGTTTGAGACCAGCCTGGCCAATACAGTGAAACCCCGTCTCTACTAAAAATGCAAAGTTAGCCGGGCATGGTAGCGCAGGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGTAGAATCATTTGAACCAGGGAGGCAGAGATTGCAGTGAGCCGAGATTGCATGGCTGCACTCTAGCCTGGGTGACAGTGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAGTACCTACCTCAGGTAGGGACTGAATAAACACGTGTAAGGCACTTTGGAAAAATACCTGGCATATATAGTAAGCAGTATGTTGGCCATTACCAAAGGCCCTGGGAATTCTGTACTGCTGCTCATGGGTGTAGTCGGTTCTAGAGGGGTGGGCAGGTGGGAGTAGCTGAGGAAGACAAGTGGCTGGAATGGTATCACATGATACACAGAAGTATCCTCAGTTCTGAATCTACCTTGGCCTCAAGGGCCCAGGAGAATAACTTTTCCCAGCTGACAGCCTCTCTGAGGACAATGACATATGAATGAGGATCAAAACGAGCTTTGGCCAGGCACTGTGGCGCTCACCTGTAATCCCACCATTTTGGGAGGCTGAGGCGGAGGACCGCCTGAGGCAAGGAATTCAGAACCACTCTGGGCAACATAATGACACTAAAAAAGACTATCTCTAATCAAGGCTAGAACCAAGGGAAGGCTAAGAATTGCCCAGTACTGTGCAACTACGAAAGCCCTACCCAAGGCCACCAGCCTTGTCTTCCTCTTTCCTCTGTCAGTTCAAAAAGAACAGAAACCTCCAGCTCTTTTACATAGCAGGTACCAGGCATTTATCAGAAGAGGCCAAGCTTCTGGTTCCCATGCAGCCCTTTGAATAGTGTGTCTAAACAAAAATAGGTGTCCAAGTAGTCACACTGAGACTTTAACTGGTAACCCAGCCTGTGGCGTCAGTCGCAGTGCTCTGGCCAACACTATAGCAGGGCTTATTCTTCTCCCTCATGTGTAGTGAAACAAAATGTAACACCTTGGGTTCATTCAGTTCCATTCCCTATATCTACCTGTGTCAATATAATTCCCTGATTTGGAGGCAGCTCTCCTCATTTTCCCCAAAACAGGGAAAGCAAGGAGTAAATTCCTCTTAAAATCAAAAGCTAATAATATGCTTCCTAAAATAAAGACTCATCAAGGTCTCAGTTCAAGTTTAATNNN	pathogenic	8,890
Evaluate this variant at chromosome 1, position 46189476, gene TSPAN1: benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	ACTTCCCTTTGACCCCTGTAACTCTCTTCCTGAGCTTTTCCAGGGCAGCCCAGAACCACCACCCCCTTGCTGAGCCCAGAAAGGAAGAGGGACCTGGCCAGAACCAAACAGTGCCTTAGAGCTGGTCTGTGAGGGCCAGACCAGGAGCCTGCTAGGGTGCGGGACAGGGGGAGGAGCTAGCCTGCCTCACCCCTTCACCACCATACTGTGCCTCTCACACTTCTCCTCTGCCGTGTGCCTGTGTGGAGGCTGCATGGGATTTGTTTGCCCAGGGCGGGCCTCTACCTCATCATGGGCTAATTGCTGCTCAACCTGGCTGTTGTGCCACCTCAGGCACTATATCCAGCTCCAACAAACACTGAAGGCGTCAGGGTGGCGAGATATGTCCAAGCGACATACCACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTA	ACTTCCCTTTGACCCCTGTAACTCTCTTCCTGAGCTTTTCCAGGGCAGCCCAGAACCACCACCCCCTTGCTGAGCCCAGAAAGGAAGAGGGACCTGGCCAGAACCAAACAGTGCCTTAGAGCTGGTCTGTGAGGGCCAGACCAGGAGCCTGCTAGGGTGCGGGACAGGGGGAGGAGCTAGCCTGCCTCACCCCTTCACCACCATACTGTGCCTCTCACACTTCTCCTCTGCCGTGTGCCTGTGTGGAGGCTGCATGGGATTTGTTTGCCCAGGGCGGGCCTCTACCTCATCATGGGCTAATTGCTGCTCAACCTGGCTGTTGTGCCACCTCAGGCACTATATCCAGCTCCAACAAACACTGAAGGCGTCAGGGTGGCGAGATATGTCCAAGCGACATACCACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAN	pathogenic	8,922
A mutation at chromosome position 46189875 on chromosome 1 in gene TSPAN1: benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	CACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCAC	CACCCATGCTGTCACCGAGTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACNNNNN	pathogenic	8,936
Does the variant on chromosome 1 at location 46189893 affecting gene TSPAN1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy']	GTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATC	GTTGGGCTCCAAGCACCTGTGAAAGAGGCAGGGCAGAGAGCAGGCAGGAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCNNNNN	pathogenic	8,937
Does the variant on chromosome 1 at location 46189940 affecting gene TSPAN1 have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3']	GAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTT	GAGGGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTNNNN	pathogenic	8,939
Gene mutation in TSPAN1 at chromosome 1, position 46189943—is it benign or pathogenic? If pathogenic, specify the disease(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	GGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCC	GGCTGGAGTTCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCNN	pathogenic	8,940
Does the variant impacting TSPAN1 on chromosome 1, position 46189952, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	TCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTAC	TCCAGCTGGAGTTCTGTACTTGTACAGAGGCAGGCAGACCCTTTCTGAAGAGGTGCTCCACACTCATCCTCCTGACATTAGGCCCTTCACAGATCCCTTAAATGTTCTTTTCCCTGCCGTAGGCTTTCTCATTCACTCCCTCTGGACAATCCCATCCATTTTCTGGTGCCCCTATGACTAACTTAGATCTTCCTAACCTCTTTGGGTTACTGGCTATGTGAGAATCTGATGAAGACCATGACCCATTTCTCCACAAAAATGCCCAGATAGAGAATTCTGAATAGCAAAGTGCTCTAAGGGCCATAGACACCCTTGCTCCTACATCTCCATCTGCACCCTAGCCCGTCTCTTGAATGATGCCTGCCCAGTCCTGTCCCATCCACTTCCTTCCCACCCCTACTATGCACACCTGCTCTCTCATTTCCTCTTCCAACTCCCCAGTATCCCTTTTTGTTCTCTCCTGCTCTGTCTCTGGGGACAGGTGCCCGGCCCAGGCAAGATAAGCAGGAACCCGGCTGGTGGTTAAACGGTGGGGAAGAGGTAGGGTGGCTGCTCCAAGCCTCAAGTAGGGCGGGGCTAAAGTCAAGCTGTCCTAGGGTAGAGTTGGGGAAAAACCTTGGAGTTTGAGACTCAGGCATCCCCTGGTGGCCAAATGGCCCCAAATGGAAGATAAACTCTGTGGAGGACAGTAAGGAAAACTCACCATCCAACACAAGTATTCTCTCCACCACTTCCCTCCAGCACCCCCCTGACACACAAAATCACAATCACAAGACATCCCCAGAGGGCTTCTCCTTTTTTAATCAATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCAACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTA	pathogenic	8,941
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 46190757, gene TSPAN1: what disease(s) if pathogenic?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'POMGNT1-related_disorder', 'Retinitis_pigmentosa_76']	AATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGT	AATGACCAACTTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTG	pathogenic	8,956
Is chromosome 1, position 46190767, gene TSPAN1 variant benign or pathogenic? If pathogenic, what condition(s) is it related to?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	TTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGT	TTATCCAGCTTTGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTN	pathogenic	8,958
Is the chromosome 1, position 46190778 variant in TSPAN1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	TGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAG	TGGAAATCTGGACAAAGAGAAGGCTGAGAGGAGGCCTGGTCCAGTGTCTAAGGGTCTCTGAGTGAGTCTGTGTCAGCATGTGGGCCCCAGCTGGGCCTGTCCATGGGTTGGGCACAGCAGTTTCCTGAGTAAGAGCCAGCCCCACCCTCAGGGCAGCATTCCAGCCCAAAAAGAAATCCAGGCCCTCCAGGTTCGGCCTGTTTTCAAGGCCCTCAGGACAGTCAATAAATAGGTTAGATTCTGAGCCAGGCCTGGAAAGTGAGGGTATTCAAAGGGCAGGATGAGCTGCTAGGGATCGTAATGATTCCCAGGTACTCTCCTGCCCTTCTCCAACAAGGAAGTAAATAAATAGACTTTTAACTCAGGAACGGGGTGTTGGAGCAGGGGAACCCTCCCCTTGGAGTTAGTAATTAAGTCTCATGTTAAAAACAAGGTAGCCCCAGCCCCTACCAGCATCTACAAAATCCTACAGGATGGAGGGAAGGGCTAGCCAGCCTGGGGGTACACAGTACCCAGCCCCGCAGGGTCCTGGAGGAGGTCTCATGTCTGTTCTGGGGCTCCTGGGGCTCCCTCCTCCTTTGGGGGTGGCTCCAGGAAAATTGGGGTGACTGAGGGTGGCTTCTTCACTCTGGGAAAATAATACAAGAATGTATAGAGAAGAAGCCATTAGCTATATCCCTGGATCTCACTAGGCCTCCTGTTTCCCAGGGCAGAAAAGGGTCACTCACGAGTAGGGGGAAGCCGGGACCCCCACCATCAGGAAGTGGTTCTTCTTCCGAAACAATCTCCACAGGCCCCGATGGTTGCCACGCACATCCAGGTCCCAGATATGGAGGCACTAGTGAGGGTGGGATGGAGACAGAGACATGGGTCAGAGAGCTGTAGGGAGGGGTCACTGACGACCCTTTGGCCCAGCCCCCACCCCTCCTCAGAAACCACCTCAATTTGTAAGAGATAGCATCTTTTAGAATATGAATTTGGACAAGGAGGTTGGAAGAGGTGTTCTAAGAGTATAAAGAGGAGGTTCTGAGGTTGAAGATTCCAGAGCAAAGGCTCCCTGGATCTTGGGGCAGTATGTGTGTGAGGGGGAGGGGTTCTCCAGGGTGGGCATGGTATTGGAGCACCTTGGCAAGCTGGGTCCAGGTGGTGAAGTCATCATCTTTCTCCATTCGAATAAAGGCCACGTAGGTGTGGCCCTCTGTGTCTGGCAGGAAAGAGTCTTCACAAGGGTTCTTGCTGTGGTCCAGAACCTCAGCCTCACTGCAGTAGAGGGTGGGAGAATATAGCCAAGACAGGGCCCACTTCATGGGTGTGTCCCACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGN	pathogenic	8,959
Mutation found at chromosome 1 position 46192096, gene TSPAN1: benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	ACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGA	ACAGGACCCTGTACTTGGTTGAATGCTCTGCTGTTGCCACCTTGAAGTTCTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCATGATCCACCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCAGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAN	pathogenic	8,965
Regarding the variant at chromosome 1 and position 46192366, affecting gene TSPAN1: benign or pathogenic? If pathogenic, what are the associated illness(es)?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	ACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGA	ACAGGCGTGAGCCACCGCGCCCGGCCTGAAGTTCCTAATGTTTGAGATGAGGGCCCTGATTTTCATTTTGCACAGGACCCTGTAAATTATGGGGCCAAGATCCCCAGTATTTGACTCTTTGCTCCCTGCTACACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGANNNNN	pathogenic	8,975
Variant at chromosome position 46192498, chromosome 1, gene TSPAN1: benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	ACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTA	ACCCCAATTGTCCTAGGCCATACCTGAGCAGCCTGTGAACTTCCACTTCATAAGCTTCTTTCTTCAGACTGAAGAGGAGGGAGAAATGGGTCAGGGGAGTGGGCAGGCCCTCAGGTCCCATGGGTAGCACTGAGCAGGGCAAGGGGTCACATGGGAATCTGTAGCCGCAGGGCTGGAGTAAACACACAGGCCCAGCATTGGAAGGGACTTTCAGGGACTGGCCTCCAAATCTCCTAGATATCCACCCCTTGCCCTGCTGCCAGCCCCAACCTGTCCACATTCCTGAGCTGGACACCTGGAACCGTGTTGAACTTGTGCTTCTTGAAGTAGGCCTCCTGGAGTGGGTATGAGAGTGAAAATCAGCACCTCACATTGTCTGGCCCACACCCACTTGCTGACCAGCCAGACATCTATAAGACACACAAATGAAGTCCTAGACCTGTAAAGAGCCCTCTAATTTCCCACCGTCTTCTCCATCCTCTTTGCAGCATCCTCAGCAAGCTCTTACTAGCTTTAATTTGGCCTCCACCATTGCTGGAGAGCTCATGCTGTCACGGCAGCTCACACTACTGCACCACAGACCCATGAACTAGCAGTCCCTGCCTCTTGTAGTTCTCCCTGGGCCTGCTGTTCTAGAGCCACAGATGTCAGAAACAGGCCCTGCAGGAGGTGGTGGGCAAAGGGACGGGCTGGGCTGGGAAGGAAAAAACTACTTTGACTCTGGTACTGAGAGTGACCTGAGGGAAGCGCCTGCCCCTCTCTGGGAGAGGAATGGGGCTCGCGTATTAGTCAGCCTCTGAGGGACCTCTGGCTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTANNNNNNNNNNNNNNNNNN	pathogenic	8,981
Clinically, how would you classify the variant at chromosome 1, position 46193309, gene TSPAN1: benign or pathogenic? If pathogenic, specify the associated illness(es).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	CTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCA	CTTCTAGGAGGTTCCAAGCTGGACGCTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCANN	pathogenic	8,993
Does the chromosome 1 mutation at position 46193334 within gene TSPAN1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	CTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAA	CTATTCATTCCTTTGGGCTGGGCTGGCTCAAGGCCTCCCTTGCTGTAACTGGGGAATGGTCCTCTGAATGCAGCCAGGTGGGTTGGCGGTACCTAAGGACTTCCCTGTTCTCCTCAGGCTGAAGCATAGGCTCCAGCACTTGCCAAAACAGGAAAGGGCAGAGATTGCAGGGCTGGACCAGTACTTAGAGGCAGAAATACTCTCCCCAGACACCCACAGTCTAGTGCTAAAAATAGTAAAAATAAAAACAATACCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAAN	pathogenic	8,994
Located at chromosome 1 position 46193587, the variant affecting gene TSPAN1—benign or pathogenic? If pathogenic, which disease(s) does it relate to?	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	CCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAG	CCAGCTGACCCTTATATATGTTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGNN	pathogenic	8,998
Is the chromosome 1, position 46193607 variant in TSPAN1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated?	pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy']	TTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTT	TTTATAATTCAAAGCACTTTACATATATTGACTCATTTAAACCTCAAAATATCGTAACCCAGTGAGGTAGTAGTATTTTATCCTCTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGTGATCTTGGCTCACAGCAAGCTTCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCATCACCAGGCCCGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTAGCCAGGATGGTCTCGATCTCCTGACCTTGTGATCCACCCGCATCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCAGCCCTTTATCCTCATTTTTCAGATAAAGAAACTGAGGCAAAAATAGGATAGCTCTTTCCCCAAGGTTACATGGCTAGCAAGTAGCAGAGCTAAGATTGCTTCAGAGTCCATGTTCTTGTTCTTGACTGTCATGCCACACTGTGCCCTGCTCCCTGCCTCCCACTCACGTGAAAGTAGCCATTCATGTTGAGGCCGACGATGCCAAAGTGGTAGGATCGGGAAACGTCAGGGATGATGCACTCTCGGCCCCGGCGTTGTTCAGGCATCCGCATCCACATGTCCCAATCCCAGAGCTGGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATT	pathogenic	9,000
A mutation at chromosome position 46194274 on chromosome 1 in gene TSPAN1: benign or pathogenic? If pathogenic, which disease(s) is it linked to?	pathogenic; ['Muscular_dystrophy-dystroglycanopathy']	GGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCT	GGCAGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTN	pathogenic	9,007
Gene TSPAN1 variant at chromosome position 46194277 on chromosome 1: benign or pathogenic? If pathogenic, what disease(s) is it associated with?	pathogenic; ['Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3']	AGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTG	AGACATGGACCACGATGAAGGTTAAGATGTTTCGAGTTGGTAGGGGACTCCAGCCCCCTCACCCTACCCTGACAGTTACCTTTTCCGGTGTAGGCCACTTGGGCTCAAGCTCCTCCTTGTACAAGGACCTCCTGAGCACCCAGCCCAGCCCAGGCATGGTCTCCACACGGTACAGTAGTGCTGGGTCCTCAGCCGTGTGTTCATACCCCTGGGGACAGGGTGCCATAGTGGGAGGTATTAGCTGAGGCCTCATAAACTCGCCTGCTAAACCCTGGTCATTCCAGCCTACCTGGTCATTCCAGGCAGAGATGCAGTACAGGCTGTCATCCTCCTCCAGTAGGTGGATGGATTGGCTCAGGAAACTGAGAGAGGCAGGGTCAAAGAGTTCAGGGAGGGACAAGGATAAATCTAGTCACACAGAGATGCTAGAATTGCTGGAGCTGGGTCTCAGGAGCACCTCCTTCCTGGAGTACCTCCTTCCCCCAAATCCCCACTGTCTCCATTCATCCACTGTACCTTCAACAGCAGCCCCAACACCTGCCATCCTACCTTTGCCCAGGCTTCGCCCCCACTTGTGAGCTCATGTCCTCCAGAAAGCTCTCTAGGACACCTCACTGACTCTTTCCCTGCAGACTGAGGGACCTCAACTGAAACCTAGAGACTCCCCTCACCTGAAAAAATCCACAGCAATGTCCAGGTCCTCTTCCAGAACCACAGCAAACTTGGCCTCCTAGAAGGGGAATGGGACATCATGGTCCCAAAGGGGTCTCTCCATCCTGTGATCTCCTTTGCCCCCAACCCTCTTCTTGCAGGCAGCATTACCCCCATTTTCCAGATGTGAAGGATGAGGCCCAGTGAGGGGAAGAGCTTGCCACGTAACAGGCCCAGACCTTATGCCCATGTTTCCCCCCTCCCAGGCCCAAGAGTTGTATCCTTAGTACTCACCGGAAACAGGTTGAAAGTGGCAGTGAGGCTGGCCTTGTAGTGCTGGGAGTGGGGTGGGAATAGGGCACATGAGCTTTAGGGTAGAAGGCAGAGCCAGGTGTCTGCCCCATCCCCACTTGCCTATGCAGTACCTGAGACACGCGGGCATTCTTGATGCTGATGGGAGTATGCTGGATGCCCCTCAGACCAAACAGTGCCACCACATCCATGGGTTCCTGGGGGACATGGCCACTGCTCACCATGTGAGGTCACTTTCCCTCTGCCCACCTCTGCAATCCAAGGCCTTCACATTTCACAGCCCTTGCCTGGGCGGTCTCCCTTGCCCGTCCCTGGCAATCACTGCTGCTCCATGTTGTACTCCACCCGAGGCACCCCCCAAGTCCTGCTCACCTCATAGTAGCCGTCAATGAAAACTGTTATCATCTGAGGAGACACCCCCTGGGCTGAAAGCAGAGAGCGCAGCATCCTGGGGAGCCCAGGGATAGGTTAGGGTCACTTCATCACCCCTCAACTCAGGTTCCCCTGTGTTTACAGCTGGGCCCAGAGTCCCTATGCTTACCCACAGAGGTGAATGCGTCTAGAATCTATTGCCTTTCTGCCCACCTCAAGAGTTCCTCCTGGAGGTAGATGACCTAAGCACCCTCCTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGN	pathogenic	9,008
Does the chromosome 1 mutation at position 46195866 within gene TSPAN1 classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	CTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCC	CTGTTCAGTGCTGGGTATAGCCCATTCCCAGGCTTACCTGTACAGGTAATTGGGTCGGTTCCCTGCAATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCAGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCN	pathogenic	9,027
Gene TSPAN1 variant at chromosome 1, position 46195933—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?	benign	ATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATA	ATGACAGCCACAGGCACATTGAGGACCTTGTTGTCTGGGAGCTGTGGGAGAAATAGCGTTTAGCTCTTGCCTTATTCCCCCTTCAAACTGGGATCCCCACCTAGGGAAGACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATAGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACC	benign	9,029
Determine whether the variant at chromosome 1, position 46196041, in gene TSPAN1 is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	GACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCA	GACTTCTCAGGTGAGGGTAGGTGCAGACTGGAGTAGACAGGGAAGGGATAGAGGATCTTCCCTGTTCTGGGCTCTCCACACACTCAGCCCAACTCTAGCGCTGAGCTTTACTCACATGGCCTGCCCCTTCACCCCAGCCCTGTCTTTCAGAGCGCAGTGTAAATCCTGCCCCTGGTTCTCTCCCAGGCTCAGGTAGGGAAAGCCCAACCTAGATCATTCCTGGGGCCCCCCTGCTGAGCTGGGAAGGAGTCCAAACCTCACTGTCTTAAGGCCCCACTCACTGGGTCAGGGCTGAACTCGATGGGTGTGGGGTCCTTGCAGCTGCATACACTTCCATAGCCCTCAACTTTGCTGCAGAAGCGCCGGCGGCGACGGTTCAGCTCTGTGTCTGCCCAGTGGCACTCTGCCTCTGAGGGAAGGATGCGGTTGTCATGGAGGCATGGGGCCAGCAAGGTTTGAAGAGCCCCAGGCACACAATCAAAGGAATAAAGCTCCACAGAGAGATCTAAATGCCCACCCCCAGCCCAGGCCCTGCCCCATCCATGCTCCACTAACTCCACCTTCTGCTGAGCTCAATGGCACATCTGTCTTCAGCAGGACTGGGTCCCCCCAGGAAGAGAGGGCAGGTGATTTAGAATGTTTCTCCCCGAAGACAGGACCTGGCAGGAGGCAGGAATGAGGGCCATGGGGGCCCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAN	pathogenic	9,030
Assess the variant on chromosome 1, position 46196733, impacting POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)): is it benign or pathogenic? If pathogenic, specify the associated condition(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	CCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCC	CCAGACACCAGTTTGGGGGCTTTTTCCCATCTCCCTGCCTACTTTCATCCAACCCACTGCCACTGGCTCCTATTTGTTCCCCACCCCACCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCN	pathogenic	9,033
Determine whether the variant at chromosome 1, position 46196821, in gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscular_dystrophy-dystroglycanopathy', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	CCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTC	CCCCATCTCCTAGGGTTCTGCTCCTCCCAGGCTCTTGATACTACAGAGTGGATGGCCTCTGATGCCGGCACCTCCTTTTCGTCCCACGAAGGCCCATGTGTCCCTCCAGCCCAGGGCAGGGCCAGCCTGGCTGCCCAGGCTCCTCAGCAGAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCN	pathogenic	9,038
Mutation at chromosome 1, position 46196970, within POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3', 'Retinitis_pigmentosa_76']	GAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGC	GAGCCTTGGCTGTGTCCTTGAGGTGGAAGGAGCCCTCATCCTGGGGGACCAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCNN	pathogenic	9,042
The mutation in gene POMGNT1 (protein O-linked mannose N-acetylglucosaminyltransferase 1 (beta 1,2-)) at chromosome 1, position 46197019—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2O', 'Muscle_eye_brain_disease', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_brain_and_eye_anomalies),_type_A3', 'Muscular_dystrophy-dystroglycanopathy_(congenital_with_intellectual_disability),_type_B3']	CAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCT	CAGAGAAGGCAGTTAGCCTGACTGGCATGGTTCCAGGAGACCTGGCCTCACAGAGCACGAACTATGTAGCAACCTTTTACTTAAAATAGCTCATTACATTATTGCAATAACCCTCTATGGTTACTCTCTTTCACAGATAAAATAATAACTGAAGGCTTAGAGATTCTAAGGTCATCCAGCTAATAAGTCCTTTCCACAAACCCACACGATCTGCACCTCTCTCTCCCGCCACTCTCTGCCTTCTTTTCCAACCACTCTCCTACTCTCCTCCCTTATTCTGCTCCACCTCGACTAGCATCTTTGCTGTTCCTCAAATATGCCGTGTACCTTCCCACTATAGGGGCTTTGCACTTGCCATTCTTTCCACCTGGAATGCTCTTCCTCCAGATACTCACCTGGCTCACTCCTCAATTCCTCAGCTTTCTGCTCACATATCATCTCCTTGCAGGGGCCTTCTCTTTCTAAAATGTCCCCTCCCCTCTATCATTCATTATCCCCTGCTTTATTTTCTTCTTTATACAAGTTATCATTTACTAGCATTATCCACATTTACTTGGCTGTTTCTGTTGACCTCCCACTGCTGGAATATAAGCTCCATGAGGGTGGGGACTCTGTCTTGTTTCCCATTGTATCTTCAGCACCCAGAGAAGTACCTGGCATACAGCTGTTGCTCAATAACTATTTGCTGAATTAATACAAATGTTAAGGCTGAGATTGGAACCTGAGTAACCTTCCTTCAGAGAATCTTCCCACTATGTTATATGAGGGGCAGAGAAGCCGGGGCTAGAAGCAGGGTTGGAGCTAGGGAGTAGGGGTCAGGGTCAGGACAGAATAACTGACCTTGACAGTGCAGATGAGCACTCGGCCGGGCGCTACCATGTTGAGGAATAGCACCATGGCCTCATCCTCATGAGGTGAGTACGTGTCAAACACACGTTTTGCCATCACGTGGCCCTGGCAGGGGATATACTTCTGGTGAGTTGGTGTCATCAGCAAGAGCCCAGCTCCAGCCCTCTGGGTCACCCACCCCTAGAAACTCACCGTGGCCTGGTTGAGGACAATGACATGGATGCCCCGGCCCTGCTCCCGGGCCTCATCCTCCAGCACCTACACAGTGGCAGAGACAAAGTCCAGCTTTTCACTCTGGCATTCAAGGTGTCTCTGTCTTAGGGGTACTTAAAACACCAGCTGCTTGAAACATCACCTCCTGCCTATGTTTCTGTTCACACAGTTCTTTTCCAACTCAGCTCGAAGGCCACCTCTTCCAGAAAGCCTCTATAGCACTCCCATCAGAAGAGATCACGTCTTTCTACAACCCTCCCCTCCATGACTTTCATGGCTCTTAGAGCCTCTGCTGTCTCTGCTTCATCCTGGAAGTATCACAATCCTCCACCACACTGAACCCCTCAAGGTAGGGCCAGGTCTGATTACTTTCAGGTCCCCAGTGCCCAGCACAAGGCTGAGGCCAAAGAAAGGACCAGGGGATGGTTATAAAATAAATCAATGAATTGACTGCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCTCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCC	pathogenic	9,044
Evaluate this variant at chromosome 1, position 46198533, gene POMGNT1: benign or pathogenic? If pathogenic, what are the disease connection(s)?	benign	GCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTTTATTACATTTGAAAAGATGTCCCGGCTGGGCACCATGACTCACGTAATCCCAGCAGGTTGGGAGGCCGAGGTGGGGTGGTCAGTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGACAGGCGCCTATAATCGTAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGACAGAAGTTGCAGTTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAATAAAAAAATAAAAATAAATAATTAAAAGATGTCCCTCAGGGTTCCTTCCTGACCCTCTTTTCTCCTCAAACTGACTCTTCATGGATGATCTCATTCTCTCATGACCTCTGTTACCAATCTAGATGCCCAAACTGACATTGGCAGTTCTAACCTCTTTCCTGAGCTCCAGGCTGCCTGATGTCCAGCAGGACATCTTCACAGGCCCCTCTAACGCAACAGCACAACTTCTGGAATCATTTCCTTTCACTCCTAGATTTCCTGTGGGTTCCCCTCCTCAGTGAACTGCACCAGGCCAAACAGCTGGGAGTCACCCTTGACTCCTTGTCTGTCTCCAGTGACCAGTCCAGGTATGTCTTGCTCACCATTGTATTCTCTACACCACACACAAAGGCTGGCACATAGTAAGCTC	GCCTACTATTATGAATGATTACTTTTGAGATCCCACTACATACAAGACACTTCACAAACTTTTCATTGAATCCTGACAAGTAGAAATCATTAGTCCCAGTCTATAGATAAGGAATCGAGGACTCCAAAGTCACACAGCTAGAAACTGGCAGAGTTGCAGTTCCCACTTAGGCAGTAGACCCTGCTGCCAGTGGACCATGCCCTGAGCAGAATAGAGTGACTGTACACCAGACCCTGGCCCACTGACCGTGGTGCCATCCACTGCCACATATACTTTGCTGCGACTTGAATACACCTCTACGTCCAGGACCCGCCGGGGACCACTGCCTCTGCGCCGTGGGGGCTCCAGGCGGCCTAGGGCCTCATCTGTGGGGTACAACAGGTCATGGAGATAGTCTCCTCAGCAGAGTCTCACCGCTTAGGGTCTGCCTGCCACTCCAGCTGTGAGATCCAAGGCCCCCTACCCCATCCTTAGCCTAGCCCTACCATAGTCTTGCTCTGGCTCTGGGTCTTCATTGGCTTCACTGATGGCTCGCCGAGTGTCCAGGATCAACTTGATATTGACAATGACAGTCACCAGCAGGAAAAGCACGGCCCCTGTCTGAGGGGAGGGGTAGGGATGATTAAGAGGAGCACCTCCTTCAGATCCTAGAGGGTCTTTCTGAAAGGAGGGCCCTGGCTGCAGTGAAGACATCCAGAGAAACTGGGTCCTGTCCCTTCCTCTGTCTGCCTAGCTCTACTCCCCTGACCAGGGCCTAGTTTCACAGCCACTTTCCCCAGGGAACCTCCCCTGACACTTCCCCCTCCATTAGGGCCCTCCCTACCCAGTGCTCCTGTATTCTTCTATTTGAGACCTTGATTTCCTTGGTCCCCTCCATTGTTGGTTTCTAGAGATGGAGCCAGGCCCAGGGACCCAAGCGGGGGATCAGACCTGGGTCCTGGCCCTAACTGCCTCACAGGGGTGTGCCTCTCTGCAAAGCCAGCCTGATCAGACTTCAGGCTTCCGTCAGAAGCTTAGAAGTTGTACTTGGGTTCCGATTCCAGAACTTTGGGTTCAAATCATTACCTATAGGGACATGACACATAGAGGTCTCCCCTCTAGGAACCTGCTGCCCCTTTCCCACTGGGGCTGGCCAACAGGGGTCCCAGTGCCTGATTTAGGTGGGGAGGAAGCTGGGAGGGAGCGCTCGGTGGGGAGGGTTTGGGACATCTCTATACCTGACAGAATCTCCGCAGGGCCCGCTGGTTTGTCAGTTTATACTTCCAGGTAAGGTACCAGCTCCGCTTCTTCCGAGCCCCAAAGGGCTTGATGAGGGGGCTGGGCTTCCAGTCGTCCATACCGGATTGGCGGGTCACCAATGTCCTGGCCAGCCCATGACTTCAGGAATCTGAAGGGACCAGAGGGCCACATGGGGTAAGATGCTCCTCCCAAAGTCTGATGCCTTCTGGGGAGATGAGGGAGGACCTCCCAGCAACTCTTCCCTGCAAGCACCCATACTGTGTGACATGGGGAAAGTGGCTCAACTTCTCTGGGCTGGCAGGAAACCCTTCAGTGGGGTTGGATCACCTGGAAATTCCCTGAGACTGGAGTAACTCTCTGAATCAAGGCTGTCCAAGGGTGGAGGCCAAATAATCGGCTCAAAGTTCGTTAGCCCCTACAAGGACCAAGTTCCAGGCCTTCCCAAGCCTGTGGTGAGCAAAGAGCGACCTCTCCTGCCCCAGTCTTCAACCCTCGTCCCATCCTATCTGCCCCAGCTTCTCTCCTCCTCCCAGGGCCCGGAGCCGCCCGAGGGCTCAGGAGACCTGCACCGGCAGCGCTACCCGTTCCGGACACCCACGCGGAGGCACTCACGGCTTAGGGGCCCCGGGCCCCGCTCGGGCCCCGCTAGGGCCCTCACTGCTCGGCCCGGCTCGCCGCGGCCTCCGCCTCCTCCATGCCGCTTGCGGCCCCGCCCCGGCCTGGCCCGCCCCCCCGCTTCCGCCGCCGCCGCCGCCGCCGCTGCCGCGGGGTGAGAGGGCGACGGGCGGTGCTTAGGGCGGCGGCGGCGGCGGCGGCGGTGGCGGCGGTGGCGGCAGCGGCGTCGGGGTGTAAGCAGCCAGCGAGTAAGGCGAATGCTCAGACCGTGCTAGGCAGCTTCGCAGCCCGGCTGGCTGGTGGGGCTGCCTGCACGAGAGCAGCCCGCTCCCCAGCACCGCCGATGGCAAGCCCGACTCCAGTCAGAGGCCTAGCACCTTGGACCAGATCACAGGGCACGCCAGGGTCAGAGGGGCTGCAACCCTTGGACACAGGGCACACACCACCCGCCCCATACCCGTCCTGGGCAAGGCCGTTACCTAGTCCTGGGGCATGCACAGCTATTGGAGGCCAAGGGAGATTAAAATCCAGGTTCTGTCACTGTTCTAAGCACCTTACTGATGATGTTTAATTCCACAACAACCCCATGAGGTAGGCGCTATTATCATTATTATTGTTTTTTTTTTAATTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCGGCTCGCTGCAACCTCCGCCTTCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACGGTCGTGCGCCACCACACCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTTCTGACCTCAAGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTATGGGCAGTGAGCCACCGTGCTGGCTATAGGCGCTATTACTATCCCTGTCGCAGATAAAGAAATAAGACCTAATATCACAAAGCTAGGAGAGGTGGAATTGAAACTCAGCCTAGCTCCAGATTCTGCTCTTAACCACTGCACTCTGCTGGCAACAATACATAAGAATTGCCAGGTTTAAATAACATCATACATAGAAAGCAGTTAGCTTAACACAATGGTTCTCAAACTTTAGCTTGCGTCAGAATCACCTGGATGACTTCTTAAAACAGAGGTGCTGGGCCCCATCCCTAGAGTTTTAGATTCAGTGGTCTGGGGCAGGGTGGGATTTTGCATTCCTGAGAAGTTTCTAGGTGATGTTGATGCTTGTTTGAAGTGGATAGCCATAGAACAGTTTTAGGCAGGGGAGCAATATAATCCAATTTCTGTTTTAAGAGAACCTTTACTTTTTTTGTGGAGAATGGGTTGGAAGCAGACAGAGGAAGCCAGAAGACCAGTTAGATTTTTTTGAGCTTTCTGTATTCCATCTGCTTCCTGAATGGTGGGGTAATATCCCCCAAAATGAAATGTTAACAGTACTTGTCTTAGGAGTTAAAGAAATACATGATTTTTCCTAGTAAGTATGTATAAGAATGGAAGAAAACCCAACACATTTTATTACATTTGAAAAGATGTCCCGGCTGGGCACCATGACTCACGTAATCCCAGCAGGTTGGGAGGCCGAGGTGGGGTGGTCAGTTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACGCGGTGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCTGGGCGTGGTGACAGGCGCCTATAATCGTAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAACCTGGGAGACAGAAGTTGCAGTTGAGATTGCACCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCCGTCTCAAAAAATAAAAAAATAAAAATAAATAATTAAAAGATGTCCCTCAGGGTTCCTTCCTGACCCTCTTTTCTCCTCAAACTGACTCTTCATGGATGATCTCATTCTCTCATGACCTCTGTTACCAATCTAGATGCCCAAACTGACATTGGCAGTTCTAACCTCTTTCCTGAGCTCCAGGCTGCCTGATGTCCAGCAGGACATCTTCACAGGCCCCTCTAACGCAACAGCACAACTTCTGGAATCATTTCCTTTCACTCCTAGATTTCCTGTGGGTTCCCCTCCTCAGTGAACTGCACCAGGCCAAACAGCTGGGAGTCACCCTTGACTCCTTGTCTGTCTCCAGTGACCAGTCCAGGTATGTCTTGCTCACCATTGTATTCTCTACACCACACACAAAGGCTGGCACAT	benign	9,048
Evaluate this variant at chromosome 1, position 52375538, gene ORC1 (origin recognition complex subunit 1): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Meier-Gorlin_syndrome_1']	CTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAAGTTACTGCACTCTTTTGAGCTTCAATTTTATCTATAAAATACACTGTACATCCCTTGTGAGTTAATGGATATAAAATGACTAGTAACTCTCACTGGTGATACAAATAGTCTTGTCTCCAGGGGCTGAGAGTTTCATAATTGAGACTGTCAAAATTCAAGTCAAATTTTGCTACAAGGCCACTTTCCTTATCAGGTACAGTGAGCAAATGCCAAGGCATGACCCTTGGAAAAGCACAAAGGCCTAGAGAGAAAATTGAATAAAGAAATAAAGGGAGGCAGGAGGATAGCTGGAAACATAGATTCCTACCCTAACGTTCTCTACTGGGTCAGCTAAATCTGGAGCATTTCTGGTCACTTTCCATTCTAAATATCTATGAGTCTATCCCCGTCCCAGCCCCAAGACTGGGAGTTTGTCAGGAACAGGGATGTTAACCAAATCAGCTTGGGGTTCAAGGATTCATCACAGTTAATGGCACACTGCAGATGTTCAGGAAATGTTTACAAACTAAAATGAAAGTCACTCTCTGCAGAAGAGCTATCTCAGACTCTAGGAGGAGAACAGTAATGGGCAAAACATGACGAGTAGCTAAAATTTTAAACAAGAATTTACAACCAACCCAATAAATAAGTAGCTGAAAGGAAAATGTTTTCCTGACTTATTTTAGTTAAATAAAGATGTCTAAAACATACATACACAAACATACACACTCTCAGGTACACACTCATAAACACCTTTAACAATTCATCTTCCAAGGCAGCCAATTACTAGAGTCTTAAGTAAACTAACAAAGCACATGCCCTACTGATCCCTCTCACTTGATCTAATTGAACTATGCCCATGCAGGGATTGGATTGATCTGTGATTTGTTCTCAAATATGGCCTCATTCTGAAAGCCTTGACTCCACTACAACATAAGCTGTAATCAGGGAGTAACTTTGTCTTGTTCCTCATTCTTTGAACAGTGTCTGGCACACAGGCCTTCAATCTAACATGCAGAAACCAGTCGCTAAAGGTCTCTTCTCATGCAGCTCTACAAAATGTCACATTAAAATAGGTGCCGGTCTGGTATTCTTTCACATACTCTAGGTGGCACAAAATAGAGTGTCACACATTCATGGAAATTTCCATGTATTTTAAAAGCGTAAGTCCAAAATCTAGAAGGATTTGAAAAGAGGAGGAGATCACCTGTTGAAACGTGGCTTCCTCCAGTCCTGATCGACGGAACTCTGCGAGGATGGCTCTCAGGAAGCTCTGTTCCAGAACAGAGGAATTTCTTAAAGGAAACGAGGGGATGTGAGTTTTTGTCAGTGGCTGTAACCCCAGCCCAGAGGAAAGCCAAAGAAAACTTTTCTGTGTCTTTAGAAAAGAGAAAACCCGGGAAATAATTTCTCCTATATTATGTGGCAAGGATCTCCCTGACCCCCAAACTCTCAAACTGATACAGAAAATGTCACTGTGGAAGTGAGGAAACATAGCAACTACATCCGGAAATACACTGGTCACTCATAAATACCTGTGCCCTCATTTCATGAGCTGAGCACATCAATCAGTGTGAGAGAAGCAGCTGCTTCCTTTTTTTTTTGTTCCTATCATAGCACTTTTATGCCCTAAACACCTATAATATAGCTCAATAAGTGGCAAATATTCTATTATCCTAGGGTTATATTTCTGTTTCCCTGACTAGATAATGTCCCTATGAAACATAACTGTGTTATTAATAAGTGCAGGTTGAATGAGTAAAAGCTTAGAAAGGGAAACATGTTTCTACAGCCTTCCAGGAAGGCTCAGGAAGTGGAGCATCTTACTTGATGGCCGTGATGTATGATGATGAAAACATCTCATCCACAGCTTCCATTGAGTGGGCTATGGTGACCAGGCCAGGGGAGTCAGGCTTCTGCTGGGAGAACTCACAGATCTCTGTGGCACGCCTGCAGATGTCCAGGCACCGTCGTGCATCTCCAGACAGTGCTGCTACCTACAAGAGGGAATATTTTATTCCTGAGGCCACCTTAGCCCAGAAGAACCAAGAGATTCTTGGTAGTGCTGGCAATGGACATAAGCGTAAAGTTAAGTACTTAGCCCTGGCAGGGAACCTGGAGGAAGAATAGAAATGAATTATTACATTGTGCATGGGACTCTAATCCTCTAGTCCAAACCTCTGTCTTGGTTTTACAGTTAACTCCACAGTGGACAACACAGAAATTCTCAGCTTTACTATTCAGGAAATGAAGTCTAAAATCAGAGACGCTTGGTTCAAGATCACTATTGAAGCATCTGCAAACAGAGTTCTCACTCCTTGCATAGAGACAGACGTGTGCCCCCAGAAGCAGCCAGCCAAAGACAAGAGGGTGAGGTGGAGCCTATCTGGAGATAAAGCCATAGCCAGGCACCCCTTACAGCACGTGGTGAATTTGGGGTCGGCTTGGTCAATGGCTAAGAGGACCAGAATCAAGAATGTAGGAAGGGGCTGGACGCGGTGGCTCACACCTATAATCCCAGAACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGGTCTGGGGCGCGGTGGGTCACACCTGTAATCCTAGCACTTTGGGAGGCCCAGGCAGGTGGATCACTTGAGGTCAGAAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCACATGCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGTCTAGAGTCCATCTAAAAAAAAAAATCACTTTCCAAGTAACCCAGGACACAAACATGACTATCGGCTTACATTTTTCCCTTCCTCTAATCCCCAGTATTGAACTGGTAAGGGTGTCCTGTAGCCCTTCCTGCTTCGTCAGTTCTCCTCCCCTCCCATTACCACCTGTACAGCCTGGTGAAGAGGCACTTTGTGTGGTGAATAGCAGGGACTCAAGGGCCTCAAGACAAAGTGAAAGGGGAACTCTGGGGGGTAAGGAAACACCTAAACCAGTCTGACCCCAAGGGTATCAGTGACACTTGGCAACCCTATGCATCCCTTCGGGCTGCTGCTGGGACAAGGGAGACACAAGAAGAAGCTAAGGCCCAGCCAACATGGAACCTAACAGGACATCCTGCAGGCACCTGAAACTTGACCTCCACTTCAGCCTCAGTACAGGGTGAGTGAGACCCATCACGCAGAACGGATGGCAGGAAAAACGGCCTACTTGACCTTGGTGCTAGGTGGATGTGGGCACACACAAAAAACTTGGGTTTTATTTATTTATTTATTTTTGAGACAGAGTTTCACTCTTGATGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTTACTGCAACCTCCACCTGTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTAAAGGCATCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCCCAGCCGACTTTTTGTTGGTTTTTTTGTTTGAGAGAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGACTCACTGCAGCCTCCACCTCCTCGGCTCAAGCAATCCTCCCACCTCAGCTTCCCAAGTAGCTGGGACTACAGGCACATGCCATCGCATTGGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTTTTAATATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCCTACCCAGACACTCTCGAGTT	CTCCAGAAGGCATCAGTTGGTGCCCCAGTGGTACACAAAATGCAGAGGCAGAATGGAATGCTAGCCTTGGAATCAGAAAACAGCAGGCCCGAATCCTGGTGCTACCATTTACCTAAATATGTAGACCTGGCCAAGTTACTGCACTCTTTTGAGCTTCAATTTTATCTATAAAATACACTGTACATCCCTTGTGAGTTAATGGATATAAAATGACTAGTAACTCTCACTGGTGATACAAATAGTCTTGTCTCCAGGGGCTGAGAGTTTCATAATTGAGACTGTCAAAATTCAAGTCAAATTTTGCTACAAGGCCACTTTCCTTATCAGGTACAGTGAGCAAATGCCAAGGCATGACCCTTGGAAAAGCACAAAGGCCTAGAGAGAAAATTGAATAAAGAAATAAAGGGAGGCAGGAGGATAGCTGGAAACATAGATTCCTACCCTAACGTTCTCTACTGGGTCAGCTAAATCTGGAGCATTTCTGGTCACTTTCCATTCTAAATATCTATGAGTCTATCCCCGTCCCAGCCCCAAGACTGGGAGTTTGTCAGGAACAGGGATGTTAACCAAATCAGCTTGGGGTTCAAGGATTCATCACAGTTAATGGCACACTGCAGATGTTCAGGAAATGTTTACAAACTAAAATGAAAGTCACTCTCTGCAGAAGAGCTATCTCAGACTCTAGGAGGAGAACAGTAATGGGCAAAACATGACGAGTAGCTAAAATTTTAAACAAGAATTTACAACCAACCCAATAAATAAGTAGCTGAAAGGAAAATGTTTTCCTGACTTATTTTAGTTAAATAAAGATGTCTAAAACATACATACACAAACATACACACTCTCAGGTACACACTCATAAACACCTTTAACAATTCATCTTCCAAGGCAGCCAATTACTAGAGTCTTAAGTAAACTAACAAAGCACATGCCCTACTGATCCCTCTCACTTGATCTAATTGAACTATGCCCATGCAGGGATTGGATTGATCTGTGATTTGTTCTCAAATATGGCCTCATTCTGAAAGCCTTGACTCCACTACAACATAAGCTGTAATCAGGGAGTAACTTTGTCTTGTTCCTCATTCTTTGAACAGTGTCTGGCACACAGGCCTTCAATCTAACATGCAGAAACCAGTCGCTAAAGGTCTCTTCTCATGCAGCTCTACAAAATGTCACATTAAAATAGGTGCCGGTCTGGTATTCTTTCACATACTCTAGGTGGCACAAAATAGAGTGTCACACATTCATGGAAATTTCCATGTATTTTAAAAGCGTAAGTCCAAAATCTAGAAGGATTTGAAAAGAGGAGGAGATCACCTGTTGAAACGTGGCTTCCTCCAGTCCTGATCGACGGAACTCTGCGAGGATGGCTCTCAGGAAGCTCTGTTCCAGAACAGAGGAATTTCTTAAAGGAAACGAGGGGATGTGAGTTTTTGTCAGTGGCTGTAACCCCAGCCCAGAGGAAAGCCAAAGAAAACTTTTCTGTGTCTTTAGAAAAGAGAAAACCCGGGAAATAATTTCTCCTATATTATGTGGCAAGGATCTCCCTGACCCCCAAACTCTCAAACTGATACAGAAAATGTCACTGTGGAAGTGAGGAAACATAGCAACTACATCCGGAAATACACTGGTCACTCATAAATACCTGTGCCCTCATTTCATGAGCTGAGCACATCAATCAGTGTGAGAGAAGCAGCTGCTTCCTTTTTTTTTTGTTCCTATCATAGCACTTTTATGCCCTAAACACCTATAATATAGCTCAATAAGTGGCAAATATTCTATTATCCTAGGGTTATATTTCTGTTTCCCTGACTAGATAATGTCCCTATGAAACATAACTGTGTTATTAATAAGTGCAGGTTGAATGAGTAAAAGCTTAGAAAGGGAAACATGTTTCTACAGCCTTCCAGGAAGGCTCAGGAAGTGGAGCATCTTACTTGATGGCCGTGATGTATGATGATGAAAACATCTCATCCACAGCTTCCATTGAGTGGGCTATGGTGACCAGGCCAGGGGAGTCAGGCTTCTGCTGGGAGAACTCACAGATCTGTGGCACGCCTGCAGATGTCCAGGCACCGTCGTGCATCTCCAGACAGTGCTGCTACCTACAAGAGGGAATATTTTATTCCTGAGGCCACCTTAGCCCAGAAGAACCAAGAGATTCTTGGTAGTGCTGGCAATGGACATAAGCGTAAAGTTAAGTACTTAGCCCTGGCAGGGAACCTGGAGGAAGAATAGAAATGAATTATTACATTGTGCATGGGACTCTAATCCTCTAGTCCAAACCTCTGTCTTGGTTTTACAGTTAACTCCACAGTGGACAACACAGAAATTCTCAGCTTTACTATTCAGGAAATGAAGTCTAAAATCAGAGACGCTTGGTTCAAGATCACTATTGAAGCATCTGCAAACAGAGTTCTCACTCCTTGCATAGAGACAGACGTGTGCCCCCAGAAGCAGCCAGCCAAAGACAAGAGGGTGAGGTGGAGCCTATCTGGAGATAAAGCCATAGCCAGGCACCCCTTACAGCACGTGGTGAATTTGGGGTCGGCTTGGTCAATGGCTAAGAGGACCAGAATCAAGAATGTAGGAAGGGGCTGGACGCGGTGGCTCACACCTATAATCCCAGAACTTTGGGAGGCCGAGGCAGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCATCTCTACTAAAAACACAAAAATTAGCCAGGGTCTGGGGCGCGGTGGGTCACACCTGTAATCCTAGCACTTTGGGAGGCCCAGGCAGGTGGATCACTTGAGGTCAGAAGTTTAAGACCAGCCTGACCAACATGGTGAAACCCTATCTCTACTAAAAATACAAAAATCAGCCGGGCATGGTGGCACATGCCTGTAATCTCAGCTACTGGGGAGGCTGAGGCAGGAGAGTCACTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGTCTAGAGTCCATCTAAAAAAAAAAATCACTTTCCAAGTAACCCAGGACACAAACATGACTATCGGCTTACATTTTTCCCTTCCTCTAATCCCCAGTATTGAACTGGTAAGGGTGTCCTGTAGCCCTTCCTGCTTCGTCAGTTCTCCTCCCCTCCCATTACCACCTGTACAGCCTGGTGAAGAGGCACTTTGTGTGGTGAATAGCAGGGACTCAAGGGCCTCAAGACAAAGTGAAAGGGGAACTCTGGGGGGTAAGGAAACACCTAAACCAGTCTGACCCCAAGGGTATCAGTGACACTTGGCAACCCTATGCATCCCTTCGGGCTGCTGCTGGGACAAGGGAGACACAAGAAGAAGCTAAGGCCCAGCCAACATGGAACCTAACAGGACATCCTGCAGGCACCTGAAACTTGACCTCCACTTCAGCCTCAGTACAGGGTGAGTGAGACCCATCACGCAGAACGGATGGCAGGAAAAACGGCCTACTTGACCTTGGTGCTAGGTGGATGTGGGCACACACAAAAAACTTGGGTTTTATTTATTTATTTATTTTTGAGACAGAGTTTCACTCTTGATGCCCAGGCTGGAGTGCAGTGGTGGGATCTCAGCTTACTGCAACCTCCACCTGTGGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAATAGCTGAGATTAAAGGCATCTGCCACCACACCTGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGACCCACTGCGCCCAGCCGACTTTTTGTTGGTTTTTTTGTTTGAGAGAGGGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCATGACTCACTGCAGCCTCCACCTCCTCGGCTCAAGCAATCCTCCCACCTCAGCTTCCCAAGTAGCTGGGACTACAGGCACATGCCATCGCATTGGGCTAATTTTTAAATTTTTTGTAGAGACGGGGTTTTAATATGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGTGATCCTCTCACCTTGGCCTCCCAAAGTGCTGGGATTATAGGCATGAGCCACCCTACCCAGACACTCTCGAGTTNN	pathogenic	9,215
Variant at chromosome position 53196971, chromosome 1, gene CPT2: benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TATTAGCTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTT	TATTAGCTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTAGCAAGGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCA	pathogenic	9,299
Evaluate the clinical significance of the mutation at chromosome 1, position 53196977 in gene CPT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']	CTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTA	CTATCATTAGTATTAGTGTATTTTATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTAN	pathogenic	9,300
A genetic variant on chromosome 1, position 53197001, affects the gene CPT2. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	ATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACT	ATGTGTGGCCCAAGACAATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCAC	pathogenic	9,301
Evaluate this variant at chromosome 1, position 53197017, gene CPT2: benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	AATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTT	AATTCTTCTTCCAGTGTGGCTCAGGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTN	pathogenic	9,302
Is the genetic mutation found on chromosome 1 at position 53197040, within the gene CPT2, considered benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAG	GGGAAGTCAAAAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGN	pathogenic	9,303
Evaluate the clinical significance of the mutation at chromosome 1, position 53197050 in gene CPT2: benign or pathogenic? What disease(s) does a pathogenic variant suggest?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4', 'Inborn_genetic_diseases']	AAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTCTG	AAGATTGGACACCCCTGGCATAGAGTATTTTGGGGTGACATGATGGGAGCTGGAGAAGTAGGTAGGGGTCAGAATTCAGAAGGCCTTGGACACCAGCCTAAAGGCTTAGAGTTGCTCCCATTGGCCATGCACTCACCAAAGGTGTTCACGTCCCTCTTTTGGCTGTTAGATTGGATGGGCTCAATCTTTTGGCCCTCTGTCTCTAGAATAGAGCCGCTGCTTTTCTACTGGGCCCACTATTTCTTCCTGGTCCTCTGATCCCCTTAGCACTACACAGATCTCGATATTTGCCTCGGGTATCAAGGCTCTGAAAATGATCAGGATTTAGAGGAGATGGCTCATTTTCAGAAAGAGTTTTATATTCTCCCTCTGGCCTTATACACTACAGGCAAATGGCACCGATGTTTTGGAGTTGGGCCAGTTGGGCCTTTTCTCCCCTCAAGAGAGGAGGATTCGATATTCAGTGTTTCTGAATTTCATGCTTAGTTCTTAAGCCATTTCCCATTTGCCCTAAGAAATAAGAGCTGGCAGCAAGCTGCGCTGTTTTTTTCTAAACGGGAAATGGGTTAAGCATTTGTGATCACCACTGAATGAGTGCCAGAGCTGGTTAGTGATCTTCCTGTTCAATCCGAGGTCACCTAACTAGATAACAAAGAGCTGAAACTAAAAGTCCGGTCTCCTGACTCCCAATCCAGTACTCTTTCTGGTGTGCTCCAGCTTCTGGCTCTGCTTAGCCAATTATGGAACAGACAGAATGTACTTGGCTGCCCCAAACGGCTAAAGGGCAGTTCTGTTCCCAAAATGGAATTCTGTTGTGCCTCAAGCTAGGCAGCATAATTGTGTGTCTTTTGGTAACTCCCTGTCTTCTTCTGTAAAATGGGAGTAGAGCCTACTTAATCCTGCAGCTACTTCTAAGATCAGGGATTGGGGCGTGGTGGGCTGTTCTGCAGCTGTTTTGTGATGGATGAGGGATGATAGATCTATGTTCAAGTAGCGGAATCTTAGAGTCAGGAGTTGGAAGGAATCTTGGAGGTGGTCTGTGGTGACAGGAAGCCTCTTCCAATAGACTGAACACGGAAGACTTCCTAGAGCCGGAGGACAAGGGTTTCTTTCCTCTTAGCAGTGAGCTTCTTGTTTTTGGAAATGCTCAAGCCAAGAATGGATGTTCAGGCAGAGGGGATTCCGCTCGGAAGGGGCTTTCTGCACTGAAGTGGTGGCCAGCGGGAAACTCCAGGTTTCCAACTCCTGCACAAATCCTTTCTAATATCCATCCACTCAGGTGAGCTGGCAGGGCAGTAGCTGTGCAGGGTTCAGGGTCATTATATGTCAATGACCTTCAGCACGGATTACTAACAACAGTAACATCCGTTACCGTTTACTGCTTTCCTATTAAGCACCATGCACTGTGCATAACATGTTATCTTTATCTCATATCTAGAATTTTGGGAGGTACTTTGAATCATTACGATCTATCTACTTCTTAGGTGAGGAAATAGAGGTTTAAAATTTAGTCCACAGTCTCGCAAGGATGGAGCCTGGATCAAATTTTGGGTTATCAGATTCCAATCACGTTTCTTAGCTTTTCTTTTTTTTTTCCAACTCCAGTTTCTGTCTTGCTCCAAAAAAGGGGAAGGAGCGGCTGCGGCGCTCGGTTTCCCGCCTCCTAGGGAAGGGAAGGGAGACGAGCAGCGCGGAGGCTGGGGCCCCCTTCCGGGCGGGGCCTACTAGTGGGCGGGGCCTGTCAGTGAGCGGCCCCTGCCCGGAAGGAGCCAGTCCGGGGCGGAGCCGATGGCCTTACAGGGGCCGGAAGTGGCCTGCGGGCGGAGAAGTGCCTCAGGAGTCCTGACGCAGTGTCTTGGGCGCTAACGGCGGCGGCGGCCTTGTGTTTAGACTCCAGAACTCCCCACTTGCCGCGTTCTCGCCGCCGCAGGCTCCCGGGACGATGGTGCCCCGCCTGCTGCTGCGCGCCTGGCCCCGGGGCCCCGCGGTTGGTCCGGGAGCCCCCAGTCGGCCCCTCAGCGCCGGCTCCGGGCCCGGCCAGTACCTGCAGCGCGCAGCATCGTGCCCACCATGCACTACCAGGACAGCCTGCCCAGGTGAGCCTGGCCTCCGGGTCCCCGCCGCCCGCCGCCGTCCCAGGATCGGCCCCAACCTGACTGCAGTCACTCATGACTCCTCTAGTGAACCCGTTTCCGCCCCCAAGCCCCTACCATGGAGGCTGCCACAGCCCCTAATCTGGAAGTCTTGGGACTTTTCACAATCTCCTAGCACAGGAACCTCAGAACCCTCAAATTCTCTTCCAGAACCCCTCGATGCTATCTCAGATTCTCCATCTTGAACGCTTCTCAGATTCCCTCTCCTTTAACCTAACTTCCAGCCAGCTATCCTGAGTCCTCTTCTCCCTGAAAAATGCCAGACCTGCATATTTCCAGCGCCGCTGTAATCCCTCGACTATGGTGTCTCCTGAAGTACTTTAATGACTGCCTCACATTCCTACCCGGAATATGGGTAGGCTGATTCCTAATACATCATGGTTACCATTCCTTAACTTCTCCCAGCACCGCCTTCACCCCTGTCACTCAGGACCCTCAGCCCCACCTCCCATTTCTCCAGTACTCTGTTCTTTCACCCCCCATGAGCCCCCACAAGCACAGCCCTGAAGTGTTCACCCTTGTCCTCAACTGACCCTCCCCCATGTTTTTAAATCTTTAATCTCCTAAATCCAGTGTTCACCCGGAAACCTTTCACTCTCTCCAAGCCCTCCTCAACAGGTTCCTCCCCTCAAAATATCCTTCCTCACCCACAGTACCCCTTGTAAGTGCAGCTCACCCTCACAGAATTCTAGACACCACCCTCAGTACCCCATCCACACTCCATCATACTCAGATCCAGGGTCCACCCAAATTTCTCTTCTCCTCCTCACCACTGGCTACCCTGCCTTCGAAACACTTCACCCAGAATCGACTTCCCCTCTGAAAAGAGCCCTAGTAAATCCTCTTCCCCTTCCCTCCCCCAGTACTTTCTTAAATCCAGCTTCCAGTTCTTCCAGCCTTCGAACTCCGCTTTCGTCTGAGTTGCCAGATCTCCTTCTTCAATATTAGAAATTTTCTTCACCCTCTAAACCAAACCTAAACTAACTTCTAACTTACTGAGTGAGTAACTCAGTTCCTGGAGCCAAGTTCAAAATTTGTCTCAAAGACCCTTCTCACCTTATTTCTCACCAAACTGCCCTCAGGGATTCCCCACACTCCAAGAGCTAGAGGCCAGGCTTCTTCCCCATGTGTGGAACATTGTGTCACAGGCCTCACCCGAGCTGCTGGGTTGTTTTTCTCTGCATCTGGGACCACTTAACCCAACGTCATCACTACATACCCTCACCCTCTCAGGAGGATCGAGTGATTCTTGTGAAATTACATTTTGTGCAAACATCTAAGACATGAAAATGAGATTATCTACACGTGGCAGGAGGGAGGAAGAAAAAGGGGCTTTGTGCCTGTGGCATAAGCCTGGTACATGCTTCCACCCTGTCAACCTGTGTGTATGAGCTGAGCCAGTATATGGGTGAAAGGTGAGGACTGACAGAACCTGTCTTCACTTGCCAAGTTCAGAGTCAGATGGTCACTGACTTTCAGGCAGGCCTGGGCCCCACCCAGGTTTAAGATCAGAGGGATTTTCTGCACTTTAGAATTGGAAAGCTGGAAAGAATATTCAAGATTATTTATTCCAACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTC	pathogenic	9,306
A genetic variant at chromosome 1, position 53200774, affecting gene CPT2 (carnitine palmitoyltransferase 2)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	ACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCTATCTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAAGGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGACCTCAAGTGATCTGCTCTTGGCCTCCCATCTGGGACCACAGGCATGCACCATCATGCCTGGCTGATTTTTTGTATCTTTTATAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCGAGCAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAGCTTCACTCCAGAAATTTTTAAGTAGGACTTTTTTAAATCAAATTGCCATTGTCTCTAATCTAGAATTTTGTTTAAAAGGAAGAAGGTAAACTTTCATGAATATTCCTACTGTAATAAAACTAAATCTTAAACATATGTAGGCAACTGGAATTATGAGGTAGCTGAGATAGTATTTGGAATTTTTCTGAGTAAGTCAGTGAATGTAAGGGGATCTGTGGTGTTAAAGTGTTGTAAATGGGTACTTAGTGCAGTCTAAGTCCATAATGGCAGTAAATAATTGATTTATTTTTGTCATATTATGGATAAACATGCATTACAAATAAACTGATGAACCACAGTATATCTTATATTAGGCTTTTAAACTGCTTTATGTATCATGTTTCAGTTTTCCTAAATGACTGATACATTTCAGTATTTTGCATATCAGTGTTAATTTTGAGTTGGTAGAGGCAGCCTAACAAACTCTGATTGTTTTGCTATTAGGGGATATTTCCTTCAATAAAACCAATGAATTGAAAGAGAAAATACACCTCACTTTACTGTCCATGTGTTTTCATTTCACAATAAGCCAGTAACTTCATCACCATAGCCATCTTTGGGAATCACTAGTAGACAGAATGATAAGTAGGCAAATTGCTGTTCCTGTTATTTAAGCACAGGGACTATTTGGTTCTTCCTAATGGCGTTCCTGGTATCTGGGCATGGCTCACTGGTCGATTCCTACCTTTTAGTGACTGTAGCCCCCATATATGGCTGGCCCTTGGACAGATCTGTGTTTCACTCTTATATAATTATTTGTTGTAAAATGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGC	ACCCCATCCATAGCACAGTCTGTAGGAATCTGGAGGTACCAATTCAAACTCCAGTTCAAATAGTACCACTAGTCACCTACGCATAACCTTAAGCAACCAACCTCCCCCAGACCTCCATTACCTTATTTGTAAATTGGGAGTTAGATGAGAGATGAGATTCCTTCTGTCGCTCAGATTCTAGACTGGTAAAATGTATAATCTTTCACACTCACTCATTGATGTCACACTTGGTGAAAAGCCCTGACTTTGAGGTCTGGTAGAATGTAGTTGCAGATTCTGGATCTGCAAGTCTTTAGCTATAATTTGGGGCAATTCTGTTCACTTCATTGAGCCACAGTTTTATTTTGGTTTTTTTGAGACAGTCTCGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCCCTATCTCGGCTCACTGCAACTTCTGCCTCCCGGGTTCAAAGGATCCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAAGCATGTGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGACCTCAAGTGATCTGCTCTTGGCCTCCCATCTGGGACCACAGGCATGCACCATCATGCCTGGCTGATTTTTTGTATCTTTTATAGAGACAGGGTTTCGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCGAGCAATCTGCCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCGTGCCCAGCTTCACTCCAGAAATTTTTAAGTAGGACTTTTTTAAATCAAATTGCCATTGTCTCTAATCTAGAATTTTGTTTAAAAGGAAGAAGGTAAACTTTCATGAATATTCCTACTGTAATAAAACTAAATCTTAAACATATGTAGGCAACTGGAATTATGAGGTAGCTGAGATAGTATTTGGAATTTTTCTGAGTAAGTCAGTGAATGTAAGGGGATCTGTGGTGTTAAAGTGTTGTAAATGGGTACTTAGTGCAGTCTAAGTCCATAATGGCAGTAAATAATTGATTTATTTTTGTCATATTATGGATAAACATGCATTACAAATAAACTGATGAACCACAGTATATCTTATATTAGGCTTTTAAACTGCTTTATGTATCATGTTTCAGTTTTCCTAAATGACTGATACATTTCAGTATTTTGCATATCAGTGTTAATTTTGAGTTGGTAGAGGCAGCCTAACAAACTCTGATTGTTTTGCTATTAGGGGATATTTCCTTCAATAAAACCAATGAATTGAAAGAGAAAATACACCTCACTTTACTGTCCATGTGTTTTCATTTCACAATAAGCCAGTAACTTCATCACCATAGCCATCTTTGGGAATCACTAGTAGACAGAATGATAAGTAGGCAAATTGCTGTTCCTGTTATTTAAGCACAGGGACTATTTGGTTCTTCCTAATGGCGTTCCTGGTATCTGGGCATGGCTCACTGGTCGATTCCTACCTTTTAGTGACTGTAGCCCCCATATATGGCTGGCCCTTGGACAGATCTGTGTTTCACTCTTATATAATTATTTGTTGTAAAATGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCNN	pathogenic	9,313
Does the variant on chromosome 1 at location 53202342 affecting gene CPT2 (carnitine palmitoyltransferase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCT	TGCAGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCTNN	pathogenic	9,315
Evaluate this variant at chromosome 1, position 53202345, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	AGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGAGTTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCTTTT	AGAAGAAAATTTAAAAAATAGAACCTTTTCATTTTATCCTAGGGGAGAAAAATGCAGTTGTTCAAACTAAGGGTAGAATTAAATCAGGGCCAATACAGTGTTAGCACAGGTGTTATCATTGTGACCAGAAAACAGGAATTCTTGGGGCAGCTTCTGCTTCCCCATTTTGAATCTATTATTGTTATTTAAAATAATTATATTTGTATTTTACTTAAAGATTTAGTTGTTATTTTACTTAAAAGTAGAGTTACCATTGATATACTTGGCATTAGTAAACCCATTGATTCTGATTTGTCAGTCGCTTCTGATTATTGGTTTTGGGGGAGGAAATTAATGATCTAGTAATCAGTTCATTAGCTTGTAAAGCTAATTAACCTCTTCCATATACTGTCAGCCTTACACTGACCCTGCTTTCTCCCCAGGCTGCCTATTCCCAAACTTGAAGACACCATTAGGAGATACCTCAGTGCACAGAAGCCTCTCTTGAATGATGGCCAGTTCAGGTAAACACTGAGAACCTTGGGTGAGCATAGTTGGGGTGGTTCAAGACAGGCTGGCAAGTAGTGGTGGACCAAGCTTCAGGGAATGTCTGTGACGTGGCTGGGTCTCCAGGAACCCAGAACCTAGTTGTACATCTGCAAGTTCAGGAAATAGATTTTCATTCATGAAGGACTGACCAAGCCCCGAGAGTTCCTCTAAACAGGCTCAACAGGAGATAGTTTATAAGCCAGAATGCCAAATGTGTACTTTCCCTTAGCAGGTGTACCTGGGAGGCTCGCTGGTCCTGGTCATTTATAGAGAGCATGTACCCTTGGAAGGGAGGTCCATTGAGGAGACCATACGGCAGACCAGAAGTCTGCATCGTGAGCATGTTTATTGAGTTGGATAGCATGCCTCCAAAATTTATGCCCTTTTTCATGAAATTTAGTATATGATCTTATTTGGAATTAGGGTTGTGGCAGATGTAATTAGTTAAGATGAGGTCCTACTGGAGTATTGTGGGTCCTTAATTAAATATGACTGGTGTCCTTGTAAGAAGACACAGAGACAGCGGTGTGAGGACACAGGCAGAGATTGTGTCCTCTGCCTGTGTCAACAAGCCAAGGCATGCCAGGGATTGCTGGCAACACCAGAATCTAAGAGAAAGCCATGCAACAGATTCTTCCCCAGTCTTCAGAGAAGATATAGTCCTACTGACACCTGGATTTTGTCCTTAAAGCTTCCAGAACTGTGAGAGAATAAATTTCTGTTGTTTTCAGCCACCCAGTTTGTGGTGTTTTGTTATAGCAGTCCTAGGAAGCAAATACAGCATGGAATTGGAAAATAATATCAAATATTGTCAAAAAGTGGATTGCATTAAGCTCTTATAGCCTAGTGTAGTACTCTTTTTCCATAATGGAAATTTTTCTGTACAGGTAACTGGCATTGTTGTTGGAATCACAGAACTCTTCACTGGACAGTGATGGAGAAGCAGATGAATTATCCATAATCTAGGCCTCTGTTTTCAAATATTTGTTATTAGTCATTTAAAGTTTCTCTTGATATGGTAATAGCTACCAGTTATTGAGTATTATGTTTTAGGATATTCTAAATCCTTAGCTTTATAAATATTTTTAATCTTGTAAAGTGGTATTATTATCCATTTTACACATCAAGAAACCGAGACTCAGATCAAGTAACTTATCCAAGATCACACAGTTTGAAAAGCAACAGAGCTAGGATTCAGACTTAACTTCTGTTGACTCCAGAGCTTGTGTCCTTTTCTCCATGCCAAACTGCCTCCTAGGATATGGATTATTTTGTGAGATGTTGATTGATTTTCCTAATCATTCATTTTAAGAAGGTAGTCTAGATTATCAATTTTAGATTGATTCCTGTTCTGGTTAGAGGTACTTTCTGATCTCATTCCAGGTTTTAGGGCTATGCTGTTGGGGACCCAAAACTCTATTATGAGTTCCTCGCCATGAACCTAAAAATCATGTATTCCCTACCATGGTTTGATTTTGTCTTTTCTTGAATGTTTTAGGAAAACAGAACAATTTTGCAAGATTTTGAAAATGGGATTGGAAAAGAACTGCATGAGCAGCTGGTTGCTCTGGACAAACAGAATAAACATACAAGCTACATTTCGGGTAGGTAGGCTGGGCTGTGGGTATGATTTCTCCCAGAGCCCTCCATAATGAAAAGTAAGGCATATTCTCTCCTGTTTTGGTCTCAGAGATATTTTTGGTGAGACCAGCAAATGAAGTAACGTCTCATCCTCCCTTCCTGAGGTAAATTAAGGCTGAGTGTGTTCCTCCTCTACTGAGGTGTTGACTTGAGCCCATGCTCAAGAATGATGGCCAGCCTTCTCTGTAGATGGGATTGAGGCAGAACCTAATCAATGGTCCTGTCTGAAAAGGATGCAGGATTAAGTCCTATGTCCTATATCATTCTGGGTCCTTCACTGTCAGACAGAACTGTCCTCTCCAGCCTCTTCTCTCACCACCCACCCTGACATACTTCCTGCTAAACTCCTCATTGCTCCCTGAACCCTTAGTCTTTCATTCTTTTGTGCCTTTATCCATGCTGTTCCCACTACCATTTTTTTGCCTGGCAAATTCTTCTTTTAAGATCCAAGGAGGATGGTTTTCTGTGAAACCTTCTCAGTCCTTTTTCCTTTCCATTCAGAGTTGGTTGCTTCCACCTCTGTTCCTACAGCACTTCTTTTAATTTAGTTTATATATTTACCAAGGTTATACATGCATATAGTTTAAAGAATCAGACAGTTCTATAAGGCTTGTTAGGAAAAACAGCAACTTCCTCATCATCTTATTTCCCACTTCTCACTTTCAGCTCCTAAATCTTTTGTTATATACCCCCGTATCTCTAAATTAGATACTTACCTTACTGCATCTTGATTTTTTTGCTTTAGTCATTAGCTATTGACATCTCACTGTAGAAGATTAGAATTCAGCAGTACTTTACATCCCACCACATATGTGGGATGTGTATACACATACTTCCTATCCCCTTATTTTCACAGCATAGGGATTTGTAATTTTGGGTAACTCAGTATCTAGTTTTATGCTATTATGATCATAGAAACACTATTGTCAGCTGACTCATGTAGCATATTGGGATTGTTTTTCCTTTCCAGTACAAACTTTTTGTTTTCTCTGAAGTTAATAATTGTTCCATCTTTTCTCTTGTTTAGTTTTCTATGTGCTTACTAATTTACCCCCAGACTCTTCCCAAGCTGTCTGAATCTCCTCTCAATACATGAAAGCAGATTGGACATTCTATCCCTTTTGGTCTTCTTGACGAAACTTCTTCCAGAACTTGCGACATGCTGTAGTCTGGATTTGTGAACCTCTTGGCCTACTGTGAAGCTGCTCTCCTGTGCTCTTTCACCATCAGCTGGGGCATCTGTCATCTCTCTCTCATGTTGGGACTCGTGTTTCTTGTCTTTCATATTTTCTTATTTCTTGGCTTTTTCTTTTTCTTTTTTTTTTTTTTTAAATCAGAGCACATATTCCCTGTACTATCTGGAAACAGAATATGGGAAGCAAAAATTTTAAAATGGCCCTTATACTTCATTGATAATTTGTTTGGCTGGGTTTGAAATTATTTTCCCACAGAATTTTGGAGGCTTTGCTCCATTGTCTTTTAGCATCCAGTGTTGCTGTTGGTAAATCTAATGTTATTCTGAGACTTAATCTTTTGACTACTTCTTCTCTCTGCCTTTGGAAGCTTTTTAGAATTTTCTCTTTGTCCCCAGTGTTTTGAAATTTCAGGTAATGTGTTTTAGTATGTGTTGGGCCACTCTGTGAGTCCTTTGAATCTGGAATCTCATCCTTCAGGTCTGGGATATTTCCTTGTTTTATTTCTTTGGCTTTCTTCCTCTCCATTTTTTTTCTCTGTTTTTTCTTTGTGGAACTCTATTATTATTCAGGTGTAGAATTTCTGGGTCTCATCCTCTAATTTTCTTTTCTCTCACATTTTTCATCTCTTACTCTTTTTGTTACATTTTCTTGGGAGACTTACTTAATTTTAATCTCTCAACCTGTTTTTAAAACTCCTGCTTTCCTATTTTTTACTTCCACAAGCTCTTTTN	pathogenic	9,316
Mutation at chromosome 1, position 53210022, within CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the disease(s).	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GCTTTAGTCATTACCAGTTGCATAAGTGCTTTCCAGCTTCCAGTATTTGTTTTCTCGTCTCCCATTCTCTTGGCCTGACTGGTTTATGTCTCTTTGAAATTCTTTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATT	GCTTTAGTCATTACCAGTTGCATAAGTGCTTTCCAGCTTCCAGTATTTGTTTTCTCGTCTCCCATTCTCTTGGCCTGACTGGTTTATGTCTCTTTGAAATTCTTTTGCTAAAGGGGGGTCAGAGGCATGAATTTATGTCTTCTTTCATCAAATATATCTTATCCACCAGTACTTTTCTCTCACCATTTTAGTGCATTGCGTTATGTTTTAATTATTTGCCTCCTTCACCAGAGTTTTTCAGAATCAAAGACCATGTCCTATTCCTCTCTAAATCCCCTGGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTNNNNN	pathogenic	9,328
Does the chromosome 1 mutation at position 53210300 within gene CPT2 (carnitine palmitoyltransferase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAG	GGACCAAGGCCTGGCACAGCACTGATTCTCAAGGGATGGAATGAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCG	pathogenic	9,342
The genetic variant at chromosome 1, position 53210342, affecting gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATG	GAGTGGATGGACCAACAAATGAGTAACAGAGAAATCTGCATCTATTAATCCTTTTCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGN	pathogenic	9,344
Chromosome 1, position 53210396, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCT	TCCCAGTGCTATACATATGAACATTATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTNN	pathogenic	9,346
The mutation in gene CPT2 (carnitine palmitoyltransferase 2) at chromosome 1, position 53210420—clinically benign or pathogenic? If pathogenic, identify the related disease(s).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACT	TATTTGCCTGAATGATAGTCCTTATTTATAGAGTTTATTCATGTTTACTAATCCCAGCAGGAACTTTCCCTGACATATTTTCTGATAAAATATTGCTTCTGGAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTNN	pathogenic	9,347
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 53210521, gene CPT2 (carnitine palmitoyltransferase 2): what disease(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCAC	GAATTTTTACAGGTAAAACATCTATAGGAACTCAGAGGGCTAGTCTGAGTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACN	pathogenic	9,348
Variant at chromosome position 53210569, chromosome 1, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATC	GTGATCCATGCACTGATATTTATAATAGCTTTTTTAGTACTTTCTAAACAGGGAGTGTACAAATGTACACTGTACATAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTA	pathogenic	9,352
Evaluate if the mutation on chromosome 1 at position 53210645 in CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. Disease name(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGG	TAGAAGGACAATGAAGACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGNN	pathogenic	9,353
The genetic variant at chromosome 1, position 53210661, affecting gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease name(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	ACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTC	ACGTTCCCCCCTTATCGGGGAGCAATCAAGTATGATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTT	pathogenic	9,354
Considering the genetic mutation at chromosome 1, position 53210695, impacting CPT2 (carnitine palmitoyltransferase 2): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	ATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACC	ATTGTTGCCCCTGAAAGGAGATGAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACTTGTGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCN	pathogenic	9,355
Is the variant located on chromosome 1 at position 53210717, gene CPT2 (carnitine palmitoyltransferase 2), benign or pathogenic? If pathogenic, specify the disease(s) linked.	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTC	GAAGCAAGAGAAACCTAAAGAGATGGGGTGGGAATTAACTATTCTGTTCCAGCATGAATGCAAGTGGAGTGTTACCATATTTTATTCCTTTAAACCAAGAAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCT	pathogenic	9,356
Variant on chromosome 1, at position 53210816, affecting CPT2 (carnitine palmitoyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	AAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCA	AAAGGAAACAGAAGAGGAAGAAAAAGCAATTAATAAACATTAGGAAAATGCAAACCAAATCTGCAATGCTATACTACTTTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCANN	pathogenic	9,361
Variant on chromosome 1, at position 53210894, affecting CPT2 (carnitine palmitoyltransferase 2): is it benign or pathogenic? If pathogenic, specify the associated disease(s).	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency']	TTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGC	TTACACCTACCAGAATATCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCNN	pathogenic	9,363
A genetic alteration at chromosome 1, position 53210911, in gene CPT2 (carnitine palmitoyltransferase 2)—benign or pathogenic? If pathogenic, which disease(s) is involved?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTC	TCTCCACGCCACAAGACATGTAACAAGTGCTGCTGAGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCNN	pathogenic	9,364
Variant in gene CPT2 (carnitine palmitoyltransferase 2), located at chromosome 1 position 53210946: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	AGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAA	AGGATGTGGAAAAATTGGAACCCTCACAGACAGCTCGTGGGAATGGTGCAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAANN	pathogenic	9,366
Is the genetic change at chromosome 1, position 53210994, within gene CPT2 (carnitine palmitoyltransferase 2) benign or pathogenic? Name the disease(s) if pathogenic.	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	CAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCT	CAGCCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTNNNN	pathogenic	9,368
Determine whether the variant at chromosome 1, position 53210997, in gene CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	CCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATT	CCACTTTGGAAAACATCCTGGCAGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCAACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTAT	pathogenic	9,369
Variant in CPT2 (carnitine palmitoyltransferase 2), chromosome 1, position 53211019—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']	AGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAAT	AGTTCCTCAAAGGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTTAAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAA	pathogenic	9,372
Mutation found at chromosome 1 position 53211030, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']	GGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAA	GGTTAAACAGAGACTTACCATGTGATAGTAGTTCCACTCCTAGCTATGTCCATACAAAAACATGTATAAGAATGTTCATAACAACATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAANNNN	pathogenic	9,374
Benign or pathogenic: chromosome 1, position 53211114, gene CPT2 (carnitine palmitoyltransferase 2) variant? Disease(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	CATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTC	CATAATTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCNNNN	pathogenic	9,379
Variant chromosome 1, position 53211119, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease(s)?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGA	TTCTTAATAGCTAGGTGCAGTGGCTCACACCTGTAATCCCAGCACTTTAAGAGGCTGAGGTGAGAGGATTACTTGAGGCCAGGAGCTTGAAACCAGCCTGAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGANN	pathogenic	9,380
For chromosome 1, position 53211218, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGC	GAGCAACATAATAAGACCCCATCTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCNNNN	pathogenic	9,388
Does the variant on chromosome 1 at location 53211240 affecting gene CPT2 (carnitine palmitoyltransferase 2) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	CTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGT	CTCTACCAAAAATAAAAAAATTAGCCAGGCTGGTGGTGTGCATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTNN	pathogenic	9,390
Clinical impact (benign or pathogenic) of the variant at chromosome 1, location 53211280, gene CPT2 (carnitine palmitoyltransferase 2): what disease(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	CATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTT	CATCTGTAGTCCTAGCTACTTGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGGTTCAAGGCTGCAGTGAGCCATGATCATACCACTGCAATCCAGCCTGGATGATAGAAATCCTGTGTCTCTTAAAAAAAAAAAAGGCAATGTAATTCATAATAAAGAGTGGAAACAGTTCAAATGTCCATTACCTGATGAGTGGATAAACAAAATATAGTATATCCATATAATGGAACATTGTTCAGCGCTAAGAAGAAATGAAGAACTTAAATGCTACAACATGGATGAACCTTAAAAACATTATTAGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGCCCAACATGGTGAAACCCTGTCTCTACTAAAAATCCAAAAATTATCTGGGCATGGTGGAGGACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTCAATCCGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCAGCACTGTTCTCCAGCCTGGGCGACAGGAGCGAGCCTCCGTCCCAAAAAAACAAAACAAAAACATTATTGTAAGTGATAGAAGCTAAATGCAAAACACCATATATTGTATGACCCCATTTGTATGTCTTGAATTATTGCAGAGCAAAAACATTCAGGGAATTCTTCTCTCTGGAGGTTGATGCCATTTCCTTTGTCTATGCTTGAATTTTTTTTCTTCTTCAAATTTTATTTTTAGGGACAGCATTAACATTTTATGTTATTTTTTTCTTTTTATTTTTTAGGACCCTGGTTTGATATGTACCTATCTGCTCGAGACTCCGTTGTTCTGAACTTTAATCCATTTATGGCTTTCAATCCTGACCCAAAATCTGAGTATAATGACCAGCTCACCCGGGCAACCAACATGACTGTTTCTGCCATCCGGTTTCTGAAGACACTCCGGGCTGGCCTTCTGGAGCCAGAAGTGTTCCACTTGAACCCTGCAAAAAGTGACACTATCACCTTCAAGAGACTCATACGCTTTGTGCCTTCCTCTCTGTCCTGGTATGGGGCCTACCTGGTCAATGCGTATCCCCTGGATATGTCCCAGTATTTTCGGCTTTTCAACTCAACTCGTTTACCCAAACCCAGTCGGGATGAACTCTTCACTGATGACAAGGCCAGACACCTCCTGGTCCTAAGGAAAGGAAATTTTTATATCTTTGATGTCCTGGATCAAGATGGGAACATTGTGAGCCCCTCGGAAATCCAGGCACATCTGAAGTACATTCTCTCAGACAGCAGCCCCGCCCCCGAGTTTCCCCTGGCATACCTGACCAGTGAGAACCGAGACATCTGGGCAGAGCTCAGGCAGAAGCTGATGAGTAGTGGCAATGAGGAGAGCCTGAGGAAAGTGGACTCGGCAGTGTTCTGTCTCTGCCTAGATGACTTCCCCATTAAGGACCTTGTCCACTTGTCCCACAATATGCTGCATGGGGATGGCACAAACCGCTGGTTTGATAAATCCTTTAACCTCATTATCGCCAAGGATGGCTCTACTGCCGTCCACTTTGAGCACTCTTGGGGTGATGGTGTGGCAGTGCTCAGATTTTTTAATGAAGTATTTAAAGACAGCACTCAGACCCCTGCCGTCACTCCACAGAGCCAGCCAGCTACCACTGACTCTACTGTCACGGTGCAGAAACTCAACTTCGAGCTGACTGATGCCTTAAAGACTGGCATCACAGCTGCTAAGGAAAAGTTTGATGCCACCATGAAAACCCTCACTATTGACTGCGTCCAGTTTCAGAGAGGAGGCAAAGAATTCCTGAAGAAGCAAAAGCTGAGCCCTGACGCAGTTGCCCAGCTGGCATTCCAGATGGCCTTCCTGCGGCAGTACGGGCAGACAGTGGCCACCTACGAGTCCTGTAGCACTGCCGCATTCAAGCACGGCCGCACTGAGACCATCCGCCCGGCCTCCGTCTATACAAAGAGGTGCTCTGAGGCCTTTGTCAGGGAGCCCTCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCT	pathogenic	9,392
Determine if the mutation at chromosome 1, position 53213283 in gene CPT2 (carnitine palmitoyltransferase 2) is benign or pathogenic. If pathogenic, what disease(s) is associated?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGA	TCCAGGCACAGTGCTGGTGAGCTTCAGCAGATGATGGTTGAGTGCTCCAAGTACCATGGCCAGCTGACCAAAGAAGCAGCAATGGGTGAGGCAGGGGTGGGGAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGANN	pathogenic	9,396
Clinical classification of chromosome 1, position 53213384, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? Disease(s) if pathogenic?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']	GAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCT	GAGCATGCCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTN	pathogenic	9,400
Variant in gene CPT2 (carnitine palmitoyltransferase 2), located at chromosome 1 position 53213391: benign or pathogenic? What disease(s) does it cause if pathogenic?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency']	CCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAA	CCCTTGGGTCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACAGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAANN	pathogenic	9,402
Does the chromosome 1 mutation at position 53213399 within gene CPT2 (carnitine palmitoyltransferase 2) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGA	TCTTGTCCTCAGTGCTTGGGTAAGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAN	pathogenic	9,404
Variant in CPT2 (carnitine palmitoyltransferase 2), chromosome 1, position 53213421—is this benign or pathogenic? If pathogenic, what disease(s) is linked?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	AGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGG	AGCAAGCCTAAATCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGN	pathogenic	9,405
Mutation found at chromosome 1 position 53213433, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, indicate the relevant disease(s).	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	TCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAG	TCATTCTACTCCAAATCTGATTTCTACCCGTTCACTAGGTTTAATCCATCGCCAACTCCCCAAATTTTTCTTTTCTACCCTAGCAGTCTGAACAGCCACACTAGCCACTAGGGATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGNN	pathogenic	9,407
Classify the chromosome 1 variant at position 53213545 affecting gene CPT2 (carnitine palmitoyltransferase 2) as benign or pathogenic. If pathogenic, which disease(s) is associated?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	GATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAA	GATCAGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAAN	pathogenic	9,412
Evaluate this variant at chromosome 1, position 53213549, gene CPT2 (carnitine palmitoyltransferase 2): benign or pathogenic? If pathogenic, what are the disease connection(s)?	pathogenic; ['Carnitine_palmitoyl_transferase_II_deficiency,_myopathic_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_neonatal_form', 'Carnitine_palmitoyl_transferase_II_deficiency,_severe_infantile_form', 'Carnitine_palmitoyltransferase_II_deficiency', 'Encephalopathy,_acute,_infection-induced,_susceptibility_to,_4']	AGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAATGAA	AGAATGTTCTTGCCTCCTAAGCAGGGGTGGGGAAATGCATGTGTCTTTGTCCTCATTTAAGGTCACTTTCAGCTGTGACGCATTAATTCTTTTTTCTTTCTTTTTTTTTTTTTTTTTTGGAGACAAGAGTTTCCCTCCGTCCAGGCTGGAGTGCAATGGCGTGATCTCGGCTCACTGCAACCTCCACCCCCAGGTTCAAGTGATTCTCCTGCCTCTGCCTCCCAAGTAGCTGGGATAATAGGCACCCGCCACTACACCTGGCTAGTTTTTGCATTTTTAGTAAAGAAGGGGTTTTGCCATTTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCCATCCCTCTCAGCCTCCCAAAGTTCTAGGAATACAGGCGTGAGCCACCGCACCTGGCCTTTTTTTTTTTGGAGACACGGTCTCATTCTGTCACCCAGGCTGGAGTACAGTGGTGCAATCATGGCTCACTGCAACCTCAACTTCCTTGGCTCAAACAATCCTCCTGCCTCAGCCTCCCAAATAGCTGGGACTATAGGCATGCACCACCATGCCCAGCTGATATTTTAATTTTTTTTTTTTTTTGAGATGGACTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGTTGGGACTACAGGCTTATGCCACCATGCCCAGCTAATTTTTATATTTTCAATAGAGACGGGGTTTCACTATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCATGATCTACCCGCCTCACCCTCCCAAAGTGCTGGGATTATAGGCGTAAGCCACCATGCCGGGCCTAATTTTTAAAATTTTTTGTAGAGATGAGGTCCCACTGTATTGCCCAAGGTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGCACTAGGATTATAGGCATGCACCACTGCACCCAACCTTTTTCTATTACTGATTGGTTATCAGACTCACTTTTGAAAATTTAGGATTTCTAAACTTACGGCCCCACTAGCTTCACCTCAGTTGTAATGTGTCTGCTCTCTGTAAACAGGTTATCTCAGAAGCTCTTCTCAATTGTCATCCGTCATTACCTTTTTTTGATAAAATTCAAGACCTGGAAAGGACCTGGAGGGTCATAGTTGTCCTTTCATGTTGCTATGAAGTGCTGGAAGTGAAAGGGACCTCCAAGACATTCTAATCTTCTCTTCCTCCATTTTATAGGGAGAAAACCAAGCCACTGGCCCCGTTACACAGCAAGTTAGTAGTAAGACTGAGATTCGAACCCTGGTCAAACAGACTTTCCATTTTGTTCCACTGACTCAATCTTCTCTTTTACACTTGAATCAGACTTTTAGTTTTATTGTAGTTTTTGAGTCCATAGCTGTCTTCCTGTACTGTCTTGACTCTTTGACTAAACTGATTTCACATCTTTAAAATTATGCTTTCCTTTTAGGCTCATTTTTAGCTCAGCTGTTGACAGCTATTTTTAAATGTAACATGACATAATATATTTCCTAAATAATTTAAAATAATCTAGCTTGAGCTGCTCTGAAGGTTAGTCAGTTGGTGGTGTGCATAGAGGTAGAGCCTTCCCCCACTCTCAAGGATGCTGTGAGGGGTATTCCTACCATGTGGTGAGTTGGGAGGTTTTCCTGAGGTCCTTTTCCATCCTGAGACTCTGGTTTTCCATTTTGTTTCTCACAGGCCAGGGCTTTGACCGACACTTGTTTGCTCTGCGGCATCTGGCAGCAGCCAAAGGGATCATCTTGCCTGAGCTCTACCTGGACCCTGCATACGGGCAGATAAACCACAATGTCCTGTCCACGAGCACACTGAGCAGCCCAGCAGTGAACCTTGGGGGCTTTGCCCCTGTGGTCTCTGATGGCTTTGGTGTTGGGTATGCTGTTCATGACAACTGGATAGGCTGCAATGTCTCTTCCTACCCAGGCCGCAATGCCCGGGAGTTTCTCCAATGTGTGGAGAAGGCCTTAAGAAGACATGTTTGATGCCTTAGAAGGCAAATCCATCAAAAGTTAACTTCTGGGCAGATGAAAAGCTACCATCACTTCCTCATCATGAAAACTGGGAGGCCGGGCATGGTGGCTCATGCCTGTAATCCCAGCATTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTTGAGACCAACCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGTGCCTATAATCCCAGCTACTTGGGAGGTTGAAGCAGAATTGCTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCGGCCTGGGCGACAGAGCGAGACTGTCTCAAAAAAACAAAAAAGAAAAAAAAACTGGGGCCTGTGTAGCCAGTGGGTGCTATTCTGTGAAACTAATCATAAGCTGCCTAGGCAGCCAGCTACAGGCTTGAGCTTTAAATTCATGGTTTTAAAGCTAAACGTAATTTCCACTTGGGACTAGATCACAACTGAAGATAACAAGAGATTTAAGTTTTAAGGGCATTTAATCAGGAGGAAAGGTTTGGAAAACTAACTCAGGTGTATTTATTGTTTAAGCAGAAATAAAGTTTAATTTTTGCTTGAAGATGGTTCTTAATTTCTTTTAACCTAATTCCTAATCCTCACAAAGATCTTTCCAACAGCAAGTTCAGTAAGTTCAGGTAACAGTACGTCACCATTGGCTTCTGGCTCATTGAGTGATGGTGGGATCGCGGTTTCATCTCTGTAAACTTGCCCTTGACTGGGGAGATACCATCTCCTTAAAAATACTCTTCATTTTCCTAAGGAGTGAACTGCTGCTGCACGAATTCTTATTTGTGGAGGGAGTAGCTGCCTCCTTACTTCACCTTCATGCACCAGTGCAGCGTGAACAGGGGCTTTATTGATGGGGCTTGGGAAGCTGTAATAAAGTCCAGCATGCAGATTGTGAAGGTTTCGTATAGCCACCAGGAGACAAGGGTCAAAGGAACGAGCCTCTGTGGGCTCTGCTGCTTAGAGTACTTTGTCCTTTCTCAGTTCTTAAGGGCAACTGGGAAGGAAGAGGGATCAGCACTTCACAAACTGGTGGGTGACCTCATAGATTCCCACAGACTCCTGGGCCTTTTCATCATAGTCAGTCCAGTCCTGGGAAACAAAATGGCATTGTTAGCCTCACAACGCAGAATGCAGCCATGTGGAGAGCAGAAAACTGGGACTTAAAAGGCCCAGCTCAGGCTCTGACTCAAATAATCATGAACATGTATGACCCTGAACAGAGCCAGATAGCTCAGGCCTGAATTCTAGCTCTTTCAGTTGTATGACTGTGGGCAAATCACTTAACTTCTCTGAGTCCCTTCTCCGAGTCCTGTCTTCTATTTAAAAAAAACAAAAACAAAAAAAGGACAATGGAGTTCATATTGAATGTTGAAAGAATCAAATGAGGTAACACATTTAAAAGCACTCAGCAGCCGGGCGTGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCATTTCAGGTCAGGGGTCCGAGACCATCCTGGCCAACAAGGTGAAACCCGGTCTCTACTAAAAATACAAAAAATAGCCAGGAATGGTGGCAGGCGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGTAGGAGGATCACTTGAGCCCAGGAGGCAGAGGTTGCAGTGAGCTGACATTGCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGATTGTCTCAAAAAATACATAAAATAAAATAAAAGCACTCAGCATAGTGAGTGCCTGGCACATGTAAGAGCTCAGTAGATGCTAGCTGCTGTTATTAGGTGCTGAGCAAATGAAATGAAGTTTTTGTCCTTCCTTCAAGGCTTGAGCACAAGGCTTTTCTATCTGCAGGGTAGTAATATGTCCAGTAATACAGACTATTTCTTGTTCTTCATGGTAGTTAGGTGCAGTAAAGCCACCACAAACACTGAATTAGGGAATACTGAATGA	pathogenic	9,413
Benign or pathogenic: chromosome 1, position 54999342, gene BSND (barttin CLCNK type accessory subunit beta) variant? Disease(s) if pathogenic?	pathogenic; ['Bartter_disease_type_4A']	TCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTCCTGCCCCTCAGCCATCGCTCAGCCAGGGCCCCTGAGCTCCCTCCAGGACCTCCTCTGCGAACTGTCAAGTGCACCTGGACTCTGAGGGCTGGCGATGGTGGGTGTGAGGAAGGAGAAACCCCTGTTGGAAAAAGGGCCTATGAGAAGGACGTCTAGTTAGAGGGGCAGCTGTGAGCACAGGTGTGGGGTTAGGGAACAAGGGCAGCCCTGCTGGCAGGAGGGGAGAAGGTGATGACCGCCAACAGGAAATCCCCAAGCCCAGCAAGTCAGGGAGCCCATTGAAAGCCTTTTATCCTGCATCGGCGATTTAACCCCATGTAAACGCCAAGTGAACATTCTCTTGTAGAGACCGATGGTCCTCATTTTCCTGTAATCCTGTAAAGGAATCTGATTTCTTCCATCAGCCTGTCCCTAGGACTAAAATGCCTCATTAGTGTTATTCTTAGGAAGGCATCTTCCTAGATCAGGCTGCAAGGAAATGGAGGAAGTGACTGTCAGTCACTCACACCCTGCAGGGGCACTAATTCCGAGAGCCTTAGGGGTGGGTGGGGAGCAGTTCATTGAAAGCCCAACTGGGTGGTGCATAGCGTGTGAATGTGAAGGGGATGGAGGAACCCAAGGAGGCCAGGCCTGGAGACAGCACCAAATCTGGGAGGTACATTATTATTCCCATTTTACAGAGGAGGAAACTGAGGTAACCTGATCATGACCACACTGCCCCACAGTAGAGGAGCCAGAATCCAAACCCAGGCAGCCTGCCTTGCCACCAGAGCCACGCTTTTCACCCTCAAGCTGCAGTTAAGAAGTATCACGCCGTGGCTAGGCCCACGGCCTCTGGCTTCACATCCCACTAGCTCTGCCATCTTTAGCTGTGTGACCTTGGGCAAGTTACTTGTCTGTGCCCGAGGGTCCTCTGTAAAGTGGGGATAGTAGTAGCTGCTTCACTGGGTTCCCTTCAATGAGTTAATAGCTGTAACATGTTTAGAATGGTGCCCTGCACATAGTCACCAGCCAGTACATATGGGCCATTATTCCTGAACCCTGGATAGGCACATGTCCTTGAAGAGTGTAGAATTCTTCAGGATTCTGAAATGCCAGCCTGTGGGATCCTGGAATCCTCCAATAGCATTCTAACAGCTCTCAGCTGCAGAACTGTACCCTGTTTTCTAGAGCTGGAAGGTGTGAGGCTGCCTGTCCACCCAGCTCAACCCCACAGTAGGCAAATGAGGTGATGTCAAAGCCTTGGCTGGGGCCCAGCCCCGGTAACCTCCCACTCTCCCTCCCCTGTGTGCTCCCTCGCTCAGATTCACACACACACTCCAGGCCAGCCGGGCCCAGAGGGAAGGTGAGAGGGCAAGGAGTAAAGGTGGCTGGGTGTGGGTCCGTTGAAGCGAGCCGCCTCCAGCCCTGTTGAACTGGTGGGCCCAGGGACTGGAGCGGGATTGAAAGGGATCTTGCTCTCCCTTGAAGCCTTGAGTTGCAGCGATTTCAGTGTCTTCTCTCCCTGTGTAAGCCTGTCTCGGTGTTTAGGCTGAACTACAGCCACCCCCTCTCCCGGGGGTGTGCAGGCCAGGGACTGGCCAGGCAGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGGCCCTCGGTACGTTCCTCATGAGCCATGATCGGCCCCAGGTCTACGGCACCTTCTATGCCATGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCATGTGCCAGTGCTACCCCAAGGTAGGTGGTAGTGGGGCTGGGTGGGGCCAGGTCAGCTGGGGCCAGGAGGGCTGGACACTGTGCCTGTATGCCATGCCTCACCCCCTATCCTTTAGTTGTCTTTTCATTCTTCTCATTTTGACTCGGTCTTCTCTCTGCTCTCCTGAGCGTCTGTCCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTTAGCCTAAGGGTTGATCAGAAGGCCCCTGGATCTGGAGCCCTGAGCCGGAAGCTATGGTATAGACACAGCAAACACAACACACCATGTGCTTGAAACAAAAGCTAATGAGCGCTGACCCCCTGCCAGGCACTCCTGCGTTCAGGGTGCAGTTCAGCCCTCATCCTAAGCCTTTTGGTGCTTTCTGTAGTTCCACCTTCTGAGCCTTTCTGAGGTCCAGAAAGAGAGGCTGCACAGCTAACGAGCAAGGTTTGGAGCTCAGATGCGTGTGACTTACACGTCACCCTTCACCTTGGGTCTTCTACCTCTGGGTCCCAGAGCGACTGAGAGCTCCAGGGTAGGTCAGGTCTAACCTTGGTGGCATGCACTGGGCAGTATCCTTTAGAGTCTTCATGTATTCTCAGCCTTATGTGTAATTTAGTGATGGGAAGAGCACTGGTTTGGGAGTCCTGAGTTCTAGTTCAAGTCCTGTTCCAAACTCTCTATGACCTTTGTCTTTCTGAGCCTCATTTTTTTCATCTGCAAATGAGATCCCTGCCCCTATTTTCCACAGAGCTTCACAGGGTCATTATAAAGATCAGAGAAGAGATAAGATATAGGAATATTTTGTAAACTGTAAGGTGTTATTTATAGATGAAGGGCTACCACTGTTACCCATACTGATCCTCCCAACAGCTCTGTGGAATGGAAATGCCAGGAGTTGCGAATCTTCAATGCCTAGAGAGGCTGGGTGACTTCCAAGGTCACACAGCTGGTCAGGTACAGACCCAGGGAGAAAAGGAGGGAAATAGGGACTCTAACTTGGGCTCTGTCTCTTACTGCCTGGGAGACTTTGCTCAAGCCCCTTTCCTCTCTGAGCCTCAGTTTCCTCATTTGTACACTGTGTGAGTTAGGAGGGGGGGGTGGGAAAGGGGGTATATCTGGGGGCCCTGCTGGACCTAATATCTAGGGCTCCAGGTCCAGGCAGTCCTCAGCAACCCCCACACCTCCTCTCCTCCCACCTGGGTGGCTGTGCTCAGGGTTTCAGGGAAGAAGGGGGATGGCTCCCTGGGGCCTGGGCCGGCTCTCCCCAGCCCTGCCCCCTCCACGGGCCAACCCTGGGCTGTCATTCTGTTCAGTGCTGGAGCGGTCTGGGCTGGTTTGTAGTCATTTAGCAGGCAGTTTACAGTCAACTTGCCTCTGTCTGTGCAATTCCTTGAGCAGAGGTCACTGGGAGAAGTCCTTGGGGCCAAAGCCACTCATGTCACCACTGCTATTATAATCCTTCTCCCAGTGAGGAGGCTGGACCCTGGGGGACAGCAGAGGGATGGCAGAGGTGTGGAGAGGAGCATCCTTCCTGCCCCCGCTCTTAAATAGAGCTGGCTCTGGGATGGTTGGTAGGCTGATGGGAGTGACGGTAGAGGGGAGGGGAGGGGAGGAGGGAATATTGCTGGGTATTAATGAGTAACTGTTGATAGATTCATGGGTTCACGTGCTGTGGAGGCAGCGTGGTGGGCTGAAAATGGCACATGTTGTGGCAACCTCCAGGCCCAGATTCAAATCCCTGCTCCTTCATGTCCCACTTCTGTGACCTTGGCAGAAAGAGTCCCTCCCCCTCAGCTCTGAGCCTTGTACGGCTGATTGGGAGAACACAGTGGGATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGAGACCTGGCATCACACCTGCCATGGAACATATGTGAAGGCATTGTTCTTAGGATTGAGGATTGGTATTTGCGGCACTGGGTGGGCCTCTGCATGAGTGCAGGTGTGTGTGAGTGTGTGTTTCAGAGATGCAGGCTGGT	TCTCCTTTCCAGGGAGGGGCACCGGCTAGGTAACACGGCACTCGCCCTTTCCCTTCTCTGAGCCTGTAGTAGATGATGATAATAATGTTTCCGTGGAAGGTCCTGCTTTGTTAATAGTCACAGATTACAAAGTACTTGCCTTTTCCCACTCCCCTTATGTCCCTTCCCTGTACAAAACCTGGGAGGTGGCCTAATACCTATCCCCAATCTGCAGTTGACAAAACTCTAGCCCGGAGCAGAGCCACCTGCCTGAGCTCACCCTGAGAACCAGACCTGGACATGACCTGATAACTCAGCCCTTTCCTGCCCCTCAGCCATCGCTCAGCCAGGGCCCCTGAGCTCCCTCCAGGACCTCCTCTGCGAACTGTCAAGTGCACCTGGACTCTGAGGGCTGGCGATGGTGGGTGTGAGGAAGGAGAAACCCCTGTTGGAAAAAGGGCCTATGAGAAGGACGTCTAGTTAGAGGGGCAGCTGTGAGCACAGGTGTGGGGTTAGGGAACAAGGGCAGCCCTGCTGGCAGGAGGGGAGAAGGTGATGACCGCCAACAGGAAATCCCCAAGCCCAGCAAGTCAGGGAGCCCATTGAAAGCCTTTTATCCTGCATCGGCGATTTAACCCCATGTAAACGCCAAGTGAACATTCTCTTGTAGAGACCGATGGTCCTCATTTTCCTGTAATCCTGTAAAGGAATCTGATTTCTTCCATCAGCCTGTCCCTAGGACTAAAATGCCTCATTAGTGTTATTCTTAGGAAGGCATCTTCCTAGATCAGGCTGCAAGGAAATGGAGGAAGTGACTGTCAGTCACTCACACCCTGCAGGGGCACTAATTCCGAGAGCCTTAGGGGTGGGTGGGGAGCAGTTCATTGAAAGCCCAACTGGGTGGTGCATAGCGTGTGAATGTGAAGGGGATGGAGGAACCCAAGGAGGCCAGGCCTGGAGACAGCACCAAATCTGGGAGGTACATTATTATTCCCATTTTACAGAGGAGGAAACTGAGGTAACCTGATCATGACCACACTGCCCCACAGTAGAGGAGCCAGAATCCAAACCCAGGCAGCCTGCCTTGCCACCAGAGCCACGCTTTTCACCCTCAAGCTGCAGTTAAGAAGTATCACGCCGTGGCTAGGCCCACGGCCTCTGGCTTCACATCCCACTAGCTCTGCCATCTTTAGCTGTGTGACCTTGGGCAAGTTACTTGTCTGTGCCCGAGGGTCCTCTGTAAAGTGGGGATAGTAGTAGCTGCTTCACTGGGTTCCCTTCAATGAGTTAATAGCTGTAACATGTTTAGAATGGTGCCCTGCACATAGTCACCAGCCAGTACATATGGGCCATTATTCCTGAACCCTGGATAGGCACATGTCCTTGAAGAGTGTAGAATTCTTCAGGATTCTGAAATGCCAGCCTGTGGGATCCTGGAATCCTCCAATAGCATTCTAACAGCTCTCAGCTGCAGAACTGTACCCTGTTTTCTAGAGCTGGAAGGTGTGAGGCTGCCTGTCCACCCAGCTCAACCCCACAGTAGGCAAATGAGGTGATGTCAAAGCCTTGGCTGGGGCCCAGCCCCGGTAACCTCCCACTCTCCCTCCCCTGTGTGCTCCCTCGCTCAGATTCACACACACACTCCAGGCCAGCCGGGCCCAGAGGGAAGGTGAGAGGGCAAGGAGTAAAGGTGGCTGGGTGTGGGTCCGTTGAAGCGAGCCGCCTCCAGCCCTGTTGAACTGGTGGGCCCAGGGACTGGAGCGGGATTGAAAGGGATCTTGCTCTCCCTTGAAGCCTTGAGTTGCAGCGATTTCAGTGTCTTCTCTCCCTGTGTAAGCCTGTCTCGGTGTTTAGGCTGAACTACAGCCACCCCCTCTCCCGGGGGTGTGCAGGCCAGGGACTGGCCAGGCAGCCATGGCTGACGAGAAGACCTTCCGGATCGGCTTCATTGTGCTGGGGCTTTTCCTGCTGGCCCTCGGTACGTTCCTCATGAGCCATGATCGGCCCCAGGTCTACGGCACCTTCTATGCCATGGGCAGCGTCATGGTGATCGGGGGCATCATCTGGAGCGTGGGGCCAGGTCAGCTGGGGCCAGGAGGGCTGGACACTGTGCCTGTATGCCATGCCTCACCCCCTATCCTTTAGTTGTCTTTTCATTCTTCTCATTTTGACTCGGTCTTCTCTCTGCTCTCCTGAGCGTCTGTCCCATCCATCCATCCATCCATCCATCCATCCATCCATCCATCCCTTAGCCTAAGGGTTGATCAGAAGGCCCCTGGATCTGGAGCCCTGAGCCGGAAGCTATGGTATAGACACAGCAAACACAACACACCATGTGCTTGAAACAAAAGCTAATGAGCGCTGACCCCCTGCCAGGCACTCCTGCGTTCAGGGTGCAGTTCAGCCCTCATCCTAAGCCTTTTGGTGCTTTCTGTAGTTCCACCTTCTGAGCCTTTCTGAGGTCCAGAAAGAGAGGCTGCACAGCTAACGAGCAAGGTTTGGAGCTCAGATGCGTGTGACTTACACGTCACCCTTCACCTTGGGTCTTCTACCTCTGGGTCCCAGAGCGACTGAGAGCTCCAGGGTAGGTCAGGTCTAACCTTGGTGGCATGCACTGGGCAGTATCCTTTAGAGTCTTCATGTATTCTCAGCCTTATGTGTAATTTAGTGATGGGAAGAGCACTGGTTTGGGAGTCCTGAGTTCTAGTTCAAGTCCTGTTCCAAACTCTCTATGACCTTTGTCTTTCTGAGCCTCATTTTTTTCATCTGCAAATGAGATCCCTGCCCCTATTTTCCACAGAGCTTCACAGGGTCATTATAAAGATCAGAGAAGAGATAAGATATAGGAATATTTTGTAAACTGTAAGGTGTTATTTATAGATGAAGGGCTACCACTGTTACCCATACTGATCCTCCCAACAGCTCTGTGGAATGGAAATGCCAGGAGTTGCGAATCTTCAATGCCTAGAGAGGCTGGGTGACTTCCAAGGTCACACAGCTGGTCAGGTACAGACCCAGGGAGAAAAGGAGGGAAATAGGGACTCTAACTTGGGCTCTGTCTCTTACTGCCTGGGAGACTTTGCTCAAGCCCCTTTCCTCTCTGAGCCTCAGTTTCCTCATTTGTACACTGTGTGAGTTAGGAGGGGGGGGTGGGAAAGGGGGTATATCTGGGGGCCCTGCTGGACCTAATATCTAGGGCTCCAGGTCCAGGCAGTCCTCAGCAACCCCCACACCTCCTCTCCTCCCACCTGGGTGGCTGTGCTCAGGGTTTCAGGGAAGAAGGGGGATGGCTCCCTGGGGCCTGGGCCGGCTCTCCCCAGCCCTGCCCCCTCCACGGGCCAACCCTGGGCTGTCATTCTGTTCAGTGCTGGAGCGGTCTGGGCTGGTTTGTAGTCATTTAGCAGGCAGTTTACAGTCAACTTGCCTCTGTCTGTGCAATTCCTTGAGCAGAGGTCACTGGGAGAAGTCCTTGGGGCCAAAGCCACTCATGTCACCACTGCTATTATAATCCTTCTCCCAGTGAGGAGGCTGGACCCTGGGGGACAGCAGAGGGATGGCAGAGGTGTGGAGAGGAGCATCCTTCCTGCCCCCGCTCTTAAATAGAGCTGGCTCTGGGATGGTTGGTAGGCTGATGGGAGTGACGGTAGAGGGGAGGGGAGGGGAGGAGGGAATATTGCTGGGTATTAATGAGTAACTGTTGATAGATTCATGGGTTCACGTGCTGTGGAGGCAGCGTGGTGGGCTGAAAATGGCACATGTTGTGGCAACCTCCAGGCCCAGATTCAAATCCCTGCTCCTTCATGTCCCACTTCTGTGACCTTGGCAGAAAGAGTCCCTCCCCCTCAGCTCTGAGCCTTGTACGGCTGATTGGGAGAACACAGTGGGATCGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTGGGGGAGACCTGGCATCACACCTGCCATGGAACATATGTGAAGGCATTGTTCTTAGGATTGAGGATTGGTATTTGCGGCACTGGGTGGGCCTCTGCATGAGTGCAGGTGTGTGTGAGTGTGTGTTTCAGAGATGCAGGCTGGTNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN	pathogenic	9,513
Is the genetic variant on chromosome 1, position 55039879, gene PCSK9 (proprotein convertase subtilisin/kexin type 9), benign or pathogenic? If pathogenic, what disease(s) is indicated?	benign	TCCCCTCTGCCCTGAAGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATA	TCCCCTCTGCCCTGAAGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAG	benign	9,552
Does the chromosome 1 mutation at position 55039894 within gene PCSK9 (proprotein convertase subtilisin/kexin type 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).	benign	AGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCA	AGGAGGAAGGCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGC	benign	9,556
Variant at chromosome position 55039903, chromosome 1, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, what condition(s) does it relate to?	benign	GCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCCTGGGTCCCGCGGGCGCCCGTGCGCAGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTT	GCAGGAGGGGAAAAGGATGGGTGTTGACCCAGAAAGCACTTGTGGTGGAGGGGAGGCCCCAGAAGAGGCTTCTGACTTACCCTGATTGCTGGTACCTCTCAGGGGAGCTGGCTGCTTATTTGCTGGCCAGGGTGTGGGGGAACCCATTTGAGAAGAGGGAGAAGGTGACACAATTCCTTTGGGCAACTTATGGGAGGGGTAATTGGTGAGGGATGAAAGCCCTGCCAAGTGGCAGGAGGCCCAGCTGGGGCTGCCCCTCATAAGAGTGCAGTGGAGGATATGGGATGAGAAGTGACTGCCCCTCTGGTTCCATCTGTCGCAGAGCCCAGGGTGCTTCCTTCCTCCCCCACCTCCCTCAGAACACACCCACTGCATGCTGGACAGCAGCCCCCTTCCTGGGCCTGGGGACATCCATGTCCCTCTGTGCACAGGCTTCATCATTCTCTGGGTGCACGGTAACGACCCCGGTAGGTGAGAGGCCAAGGTCCCAAAGGGGAGCAGCAGGGAAAGTTAGCTCCCATCTATTCTTGCTCCAGGGGAGGCCTTTGATGAGGAAGCTGCCAAAAGCACATTGCAAATACAATTCCAATTACAGGCAACAGGAAGGAGAACCACCTCTGCCACCTCTGTCAGCAAACCATGAGCTCCTACTCTGTGCTGCGATGGCGGGCTCGATGGGGATAACTCTGACCTTACCTCATGGAGTCACTGTCAACCCACTGGTTGCACTGTCTTTGTGCACTGGCTCTCTGGAGTGAGGTCTTTGCAAACAAAGTGGAAAGAGCATCAACTTTGGACTCCAGCACCTAGATTCAGAGCAGGCCATTTCACTCGGAATCTGCTGTGCATCTGCAAGGGAGGATCATAAATTCGCCTTTGTTTCTTCCCAGTATCGACAGCCCTTCCAGAAAGAGCAAGCCTCATGTCATGCCACATGTACAATCTGAGGCCAGGAGCTCTCTTTCCCCTTTTCATCCTCCTGCCTGGTACACAATAGGTGTTTACTGGATGCTTGTCCAGTTGATTTCTTGAACATGGTGTGTAAAAGGAATCTTTGCAAATTGAATCTTCTGGAAAGCTGAGCTTGTGCCTACCATAGAATTCTGAATGTACCTATATGACGTCTTTGCAAACTTAAAACCTGAATCTTTGTAGTATAAATCCCTTGAAATGCATGTAGGCTGGACATCAAAAGCAAGCAATCTCTTCAAGGAGCAGCTAGTTGGTAAGGTCAGTGTGCAGGGTGCATAAAGGGCAGAGGCCGGAGGGGGTCCAGGCTAAGTTTAGAAGGCTGCCAGGTTAAGGCCAGTGGAAAGAATTCGGTGGGCAGCGAGGAGTCCACAGTAGGATTGATTCAGAAGTCTCACTGGTCAGCAGGAGACAAGGTGGACCCAGGAAACACTGAAAAGGTGGGCCCGGCAGAACTTGGAGTCTGGCATCCCACGCAGGGTGAGAGGCGGGAGAGGAGGAGCCCCTAGGGCGCCGGCCTGCCTTCCAGCCCAGTTAGGATTTGGGAGTTTTTTCTTCCCTCTGCGCGTAATCTGACGCTGTTTGGGGAGGGCGAGGCCGAAACCTGATCCTCCAGTCCGGGGGTTCCGTTAATGTTTAATCAGATAGGATCGTCCGATGGGGCTCTGGTGGCGTGATCTGCGCGCCCCAGGCGTCAAGCACCCACACCCTAGAAGGTTTCCGCAGCGACGTCGAGGCGCTCATGGTTGCAGGCGGGCGCCGCCGTTCAGTTCAGGGTCTGAGCCTGGAGGAGTGAGCCAGGCAGTGAGACTGGCTCGGGCGGGCCGGGACGCGTCGTTGCAGCAGCGGCTCCCAGCTCCCAGCCAGGATTCCGCGCGCCCCTTCACGCGCCCTGCTCCTGAACTTCAGCTCCTGCACAGTCCTCCCCACCGCAAGGCTCAAGGCGCCGCCGGCGTGGACCGCGCACGGCCTCTAGGTCTCCTCGCCAGGACAGCAACCTCTCCCCTGGCCCTCATGGGCACCGTCAGCTCCAGGCGGTCCTGGTGGCCGCTGCCACTGCTGCTGCTGCTGCTGCTGCTCGGAGGACGAGGACGGCGACTACGAGGAGCTGGTGCTAGCCTTGCGTTCCGAGGAGGACGGCCTGGCCGAAGCACCCGAGCACGGAACCACAGCCACCTTCCACCGCTGCGCCAAGGTGCGGGTGTAGGGATGGGAGGCCGGGGCGAACCCGCAGCCGGGACGGTGCGGTGCTGTTTCCTCTCGGGCCTCAGTTTCCCCCCATGTAAGAGAGGAAGTGGAGTGCAGGTCGCCGAGGGCTCTTCGCTTGGCACGATCTTGGGGACTGCAGGCAAGGCGGCGGGGGAGGACGGGTAGTGGGGAGCACGGTGGAGAGCGGGGACGGCCGGCTCTTTGGGGACTTGCTGGGGCGTGCGGCTGCGCTATTCAGTGGGAAGGTTCGCGGGGTTGGGAGACCCGGAGGCCGAGGAAGGGCGAGCAGAGCACTGCCAGGATATCCTGCCCAGATTTCCCAGTTTCTGCCTCGCCGCGGCACAGGTGGGTGAAGGAGTGAATGCCTGGAACGTACTGGGAACTGCACCAGGCACAGAGAAAGCGGGCTTGCCATTATAGTGGGTTCCGATTTGGTTTGGAAAACATGGGCAGCGGAGGGTGGAGGGCCTGGAGAGAAGGCCCTACCCGAGACAGGGGCGGGGTGGGAAGGACGGCAGATGCTGGGAGCACGAGGCAATTTCTTTATGACACAGAACTCATGCTCTAGTATTCCATCTGTTTCAGCCGAAGAAAAGAACCAGCTGAAGGGGCAGGGGAGAAGGGGCGGAGGTATTCTCGAGGCCCATTGGCGTCCTTTAGGACTCAGGCAGGGAAGGGCCCTTGGTGCTCTGGAGCCGGAGGTGGTGCGCCTGGTACTGGGACCCCGGAGCTGAGCCCGGCGCCTCAGCCCACCTGGCTGTCTGCCGACCGTGTGCGGGGCGAGTTTGCTCAACAACTCTGCCAGCTTCTGGCCCTCAGGCTGTGGGAAGCTTCTTCCCGGGGCGAGACCACTAGCTTTTTCTAAGTATTACCAGCCCAGGACTTGGCTGAGGTTCTGTGTCCCCCAGCTTGGAGTCAGATGTGGGGTTGAATCTTGGCTTCCTCTCACTAGCTGTGGTGCTTGACAAGTCACTTATCCTTGAGCCTCCATTGCCTAATCTTTAAAAGGGAGGTGACAATCGTCCCTACGGCTCAGTGGCAGCAGATGGGGAGATGAAGGGAAAGTTCTGTTGACCATGAGTGAACTTACAATGCAAGCCCCGGGGGGATCACTTGCAGTTTTGTCCCTGTCTGCAGTGTGACCTGTTGGTGACATTGTCTTTGCTCCAAACCACAGCTCCTGGGGCAGAGGGGAAAATTCTGCCACTCACAGCTGCCTGCCCACGCTTCTGTCTGAGTGTGCTGGGTGGCAGGATGGCAAGTCCTTACTCAGCTCAGTATAGCCCTCTTCCTTGTTCCCTGAGCCTTTGACTTTCTCGAGGGATGTTGTGGGGTTGTGGCCAGGATAAGAAAGGGCATTTCAAGTTACCACTGCTCCAAAACAACTGTTCTGGAAATAGTGAGTACCCCATCCTGAGAGGTGAGTAAGCAGAGGCTGTATGACCACCTGAACCAAGCCCTTGAGGATGTTTCTTCTCTGGTGGAAGTTTGGAACAGGAGCCTCCTCAAGTTCATTTATTCATTCATTCAATGGTTATTTTGTGGGAATCGAATTTAGAATGAAAATATTTTTTGGCAAGCAGAAAATAATTTTTAGACCAATCCTTTTCTTTTAGTCATGAGAAACTGAGGCCCAGAGAGAGGAGGTCACCCCAGGTGCATTAGAACTGGGTTTCCAGAACTGACACTCCACTGCACAGAGTACTCTCCCAATTCATTCAATTTTTATTTAGCGGAAGGCATTTTCAGATGGGTCTTTGAAGCATTAGTAGGAGTTCAGCGATGATGGTGTCATGAGAATTTTATTCTAGGATTAGGAGGTACCATGAACAAAGATACAGAGCTGGGAAAACCAGAGGTGGAAGATAAGGAGCACATGTCCACAGTTCTTTNNNNNNNNNNNNNNNNNNNNNNNNNN	benign	9,558
Evaluate this variant at chromosome 1, position 55046570, gene PCSK9 (proprotein convertase subtilisin/kexin type 9): benign or pathogenic? If pathogenic, what are the disease connection(s)?	benign	GTCACATCTTCGGTGGAGGGGCAGAAAGGGGACTGGGTATTCTCCTCACCCTGGCCCTAGTGCTTCAAATCTTAAAAAAACGTTTTTATTTGTGCTTCTGCACCACCTTCTAGCCCACCTCGTTTCCTGGCCTCTAACTTGATGAGAGCGTGTGTCATTTTCACACTGATTCTCCACATGGCAGGCGGTGCTTCTTAGCCTCCTGCAGACAGTGAGGCCCCACGGTCTTGTCCAAGGTCACACAGCGTGTAATGGGCAGGGTCAGAGTCTGGAGTCTGGACCTGGGTCTCCTAGCTGCACTGCACTGCTGCCCCATGGGTTAATCAGCTCAGCATACCGTGGCTGAACAGCTACCTCATACCAAGGCCTGTGGCGCCATGACAGGGATTGACAGGGTCCCTGCCTTGGAAACCCGTAGTCTAAGTAGAGGAGACTGACAAGTCAATGCCTTCCATCAGTCTGCTCAACACACGTTTACCAAGTGCCTACTGTGTGCTGCAGAGGCGAAGATGACACAGCTCAGGCCTTTCCCTTGAGCTTACAGTTCAGGAGGAGAGACTGACCAGTGACTGCCAGTACAGTTGACTATGGGACAATGTGCTCAGCCTTGGGGAGAGACGAAGAAGGTACCCGTATAGCACCAGATGACAGGCACGAGCCCCACAGGCCAGGGCAGCTGCTCAGAGGAGAGTAGGCCAAGCAGAAGGCAAACAGAAGGCTGCAGGCATTTGCCATCGAGAGCTGGACTTCAAACTGGGCATCATACCAGCCTGGGTTCGAGTCCTGCCCAGCCCCTTATTGGCTGTCTAACCCTGAGCAAATCCCTTCACCTCTCTGAGCCTCATTCCTCTATCTGTAAACCAGTTATAATAATTGGAACATTCATTTAAGGACTAAATGAGGTCGTGAAGCATTCAGCAGATGCTAGGTACGGAAACTCGCTGAAGTGGGGGCAGGTTAAGAAGCCTCTGGGGATACGAAGGCATCCAGGGACTAGTTGTGGCAGGAGGCTGTTACCACTTAGGTCTGAAGGGTAAGGAGAGGGAATAGCTTTCCCTCTGCCCAGTTGGAGCCGGTGGCATGGAGGAGAGGCTGCCTGTGGGGAATCACCCGAGGGTTCACCGCTGCCATGCGCAGGGAGTCAGGAGGTAGGGAGGGAGTGGGGCAGATGCACACCATTTTTTTTTTTTTTTGAGACTCTGTTGCCCAGACTGGAGTGCAGTGGTGCCATATCTGCACCTCTGCCTCCCGGGTTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCTCCCAGCTGCTGATGCACTCTTGTCCTTCTAACTCCTGCTAGTGCCTCCCATTGGCTGAGCCCAACTGGAAGCTTTGCAAGGGAGCTGGTGCTGCAGTTTGCACTGAGCAGGCTGGAGAAGGCTGGAGAATAGACTAGGGGACAAACCGAATTGCCAGTGCTGTTATGTCATGATTTAGGCATGGAGTCCAGGGCCTGAGCTTCACTCCATGTCCATCCTGCCCAGAGCCTTGGCACAGCCTGGCTCCCAGACAAGATGTCAAGTTCAGAATCCTTCCTAAAAGGAATCCTCTATGCCAGACCGTGTTGCAGGGATATGGGAGTGCTGGGCTCCCAGCCTGATCAAGGAGCGAGAAAACTCAGGCTCCTAGTCTGTCCTCCGGGGCACTAGCAGGGACAAGGTGGGAGGCTGCTGGGCTGGGATGTGGGGACAGGTTTGATCAGGTAAGGCCAGGCTGTGGCTGTGTTTGCTGCTGTCCAAATGGCTTAAGCAGAGTCCCCCGGCCTCTCTGGCTTCTGCAGGCCTTGAAGTTGCCCCATGTCGACTACATCGAGGAGGACTCCTCTGTCTTTGCCCAGAGCATCCCGTGGAACCTGGAGCGGATTACCCCTCCACGGTACCGGGCGGATGAATACCAGCCCCCCGGTAAGACCCCCATCTGTGCCCTGCCCCACCCCATCTGAGCTGAATCCATTTGCTCTGCCCTGGCCTGGCCTCCCTGCTGGTGGTTTCCACTTCTCGGGGGGCTTTGGGACTCAGCACCTCCACTGACCCCTTTTTTTCTGTCCCATCCCCATCCCCTGCAGCCCCCACTGCCTGCCTTCCTGTTGCCCCACAAATGCAAAAGTCTTGCCTTAAATGATCCTCTTTTCCTTCTTTTCTCTTGTTTTCCTTTTCTCACCATTTGGAATGGCCCAGCAGGCTGCACTTACCTTGGAAGGAGGGTTCATCTGATGGTGACTCTACCTAGGGCCCCCAGGCCTCTATAACTCCCAGTGCCCTGCAGACTGGACCAGATCCTTTAATGGGATAGACACAACCCTGTCTGGGATGCCTCTGCCTACCTTCCTGTTTTGCTGCTCCACCTGCCTCCAGCTCCGTTTGGCTTCCTGGGGCTCCCTGCCTGGGCCACTTTGTGTCTTCCCTCTAGGCCTTTCTTTCCACTGTTCCCTCTGCCTGGTGTGGCCTGGCTATGGAAGGGAGGGAGGAGGAGCGGCCATGGAAAACGGTCTGCATTCTAGCAGGGACTTGCAGGTGGCAATTCAGTCGGGGAAGACTCTAGATGCACCTGGCCTGAGGAGAGAATGAAGGGTTCTAGTTGGACTGTGTTAAGTTTGAGGTGCCCATGGTGTGAGGTCTGGAGCTCAGCGCAGAGATGATGCAATGTGGTGGGTCCATGCAACATGGTGCCAGGACGCAGAGCTTGGGGTGAACTCAGCTTTCACCCCTTACCGGTTCTCGTGGGATCTTGGGAAGCCACTTTCTTCTATGAGCTTTGTCGTTCTTGTCTGTAAAATGGGCACATAACCCTGTCCCTGTCCTTCTCACAGGTTGCTGTGAGACTCCAATGAGTTGAAGGATGTGCAGATGCTTTTGGAAGTGAAAAGTTGGGGGGCTACTGTGTGACTTTGCATACACCCAAACTGTGTGACCTTGCATATGTCTGAGTTGCTGCCATTGCAACAGATCAGAGCTGGTGGGCTGGGTGTGGAGAAAGGGTTTGTGTGGGGGACATCCTCTGGCAAGGGTGGCAGCAGCAGAAGTGAGGGGCCTGGTCGGTCATGTGTGCTGACCCGGCCTGGGCAGCCTGTGGCCAGGGAGAGGACAGCTCCTCTGTAGGAAGAGCCTGTTCCTTTCCAACCAGGTGAGACCTCTTCAGTGGAGCCCTGGAGCCCCCTGTACTCCACATCAGTGCCTCAGGGACCTCCCGGAGCAGGCTAATATCAGAGACCAAGAGGGACACTGGCAGAGGATCACAGAGACCCCAGTCCAGGCAGGGACTGAGAAGATCTTGCCCCCTAAGTTAGTTTCCTAGCACTGCTGTGACAAATTACCACCCCCTCGGTTGGAACAAGTTGATTCTCTGCAGTCCTGGAGGCCAGAAGCCTGAATCAGTGTCGGCAGGACCACTTTCTCCCGGGGGGCTCCAGGGAGAAGCTTCTCTTGCCTCTTCCGTGTCCCAACAGCGGCAGCACACCAATCCCAGCCTCTGTCTTCACACAGCCTTCTCTGTGTCTCTCTCCTCTTCATTGTCTCATAAGGACACTTGTCATTGGATTTAGGGCCCACTGGATCCTCCAGGATGATCTCATGTGGGGAACCTTAACCACATCTGCAAGGACCCTTTTTCCAAATAAGGTCACAGCCACAGGTTGTGGGGGTTAGGATGTGAGTGTATCTCTTTGGCAGCCACTGTTCCCTCCTCTCCCTTGGGCCAGAAGCAGACGTGGGGCCCTTTCTTCCCCATAGGATGCCCATGGATTGCCCCCCTTCCCGCTTCCCCCGAGTGTCTGTGGGAGGTGGCAGGAATGGCAGGCAGGGGTGTGGAACCCCTTCTGGAGTCATATCAAGGGCTTGGCTGGAGGAAGTCCTCCTGGAGCTGTTGGGCTGGCATGG	GTCACATCTTCGGTGGAGGGGCAGAAAGGGGACTGGGTATTCTCCTCACCCTGGCCCTAGTGCTTCAAATCTTAAAAAAACGTTTTTATTTGTGCTTCTGCACCACCTTCTAGCCCACCTCGTTTCCTGGCCTCTAACTTGATGAGAGCGTGTGTCATTTTCACACTGATTCTCCACATGGCAGGCGGTGCTTCTTAGCCTCCTGCAGACAGTGAGGCCCCACGGTCTTGTCCAAGGTCACACAGCGTGTAATGGGCAGGGTCAGAGTCTGGAGTCTGGACCTGGGTCTCCTAGCTGCACTGCACTGCTGCCCCATGGGTTAATCAGCTCAGCATACCGTGGCTGAACAGCTACCTCATACCAAGGCCTGTGGCGCCATGACAGGGATTGACAGGGTCCCTGCCTTGGAAACCCGTAGTCTAAGTAGAGGAGACTGACAAGTCAATGCCTTCCATCAGTCTGCTCAACACACGTTTACCAAGTGCCTACTGTGTGCTGCAGAGGCGAAGATGACACAGCTCAGGCCTTTCCCTTGAGCTTACAGTTCAGGAGGAGAGACTGACCAGTGACTGCCAGTACAGTTGACTATGGGACAATGTGCTCAGCCTTGGGGAGAGACGAAGAAGGTACCCGTATAGCACCAGATGACAGGCACGAGCCCCACAGGCCAGGGCAGCTGCTCAGAGGAGAGTAGGCCAAGCAGAAGGCAAACAGAAGGCTGCAGGCATTTGCCATCGAGAGCTGGACTTCAAACTGGGCATCATACCAGCCTGGGTTCGAGTCCTGCCCAGCCCCTTATTGGCTGTCTAACCCTGAGCAAATCCCTTCACCTCTCTGAGCCTCATTCCTCTATCTGTAAACCAGTTATAATAATTGGAACATTCATTTAAGGACTAAATGAGGTCGTGAAGCATTCAGCAGATGCTAGGTACGGAAACTCGCTGAAGTGGGGGCAGGTTAAGAAGCCTCTGGGGATACGAAGGCATCCAGGGACTAGTTGTGGCAGGAGGCTGTTACCACTTAGGTCTGAAGGGTAAGGAGAGGGAATAGCTTTCCCTCTGCCCAGTTGGAGCCGGTGGCATGGAGGAGAGGCTGCCTGTGGGGAATCACCCGAGGGTTCACCGCTGCCATGCGCAGGGAGTCAGGAGGTAGGGAGGGAGTGGGGCAGATGCACACCATTTTTTTTTTTTTTTGAGACTCTGTTGCCCAGACTGGAGTGCAGTGGTGCCATATCTGCACCTCTGCCTCCCGGGTTCAAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTGTATTTTTAATAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTCGACCTCAGGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGTCACCGCTCCCAGCTGCTGATGCACTCTTGTCCTTCTAACTCCTGCTAGTGCCTCCCATTGGCTGAGCCCAACTGGAAGCTTTGCAAGGGAGCTGGTGCTGCAGTTTGCACTGAGCAGGCTGGAGAAGGCTGGAGAATAGACTAGGGGACAAACCGAATTGCCAGTGCTGTTATGTCATGATTTAGGCATGGAGTCCAGGGCCTGAGCTTCACTCCATGTCCATCCTGCCCAGAGCCTTGGCACAGCCTGGCTCCCAGACAAGATGTCAAGTTCAGAATCCTTCCTAAAAGGAATCCTCTATGCCAGACCGTGTTGCAGGGATATGGGAGTGCTGGGCTCCCAGCCTGATCAAGGAGCGAGAAAACTCAGGCTCCTAGTCTGTCCTCCGGGGCACTAGCAGGGACAAGGTGGGAGGCTGCTGGGCTGGGATGTGGGGACAGGTTTGATCAGGTAAGGCCAGGCTGTGGCTGTGTTTGCTGCTGTCCAAATGGCTTAAGCAGAGTCCCCCGGCCTCTCTGGCTTCTGCAGGCCTTGAAGTTGCCCCATGTCGACTACATCGAGGAGGACTCCTCTGTCTGCCCAGAGCATCCCGTGGAACCTGGAGCGGATTACCCCTCCACGGTACCGGGCGGATGAATACCAGCCCCCCGGTAAGACCCCCATCTGTGCCCTGCCCCACCCCATCTGAGCTGAATCCATTTGCTCTGCCCTGGCCTGGCCTCCCTGCTGGTGGTTTCCACTTCTCGGGGGGCTTTGGGACTCAGCACCTCCACTGACCCCTTTTTTTCTGTCCCATCCCCATCCCCTGCAGCCCCCACTGCCTGCCTTCCTGTTGCCCCACAAATGCAAAAGTCTTGCCTTAAATGATCCTCTTTTCCTTCTTTTCTCTTGTTTTCCTTTTCTCACCATTTGGAATGGCCCAGCAGGCTGCACTTACCTTGGAAGGAGGGTTCATCTGATGGTGACTCTACCTAGGGCCCCCAGGCCTCTATAACTCCCAGTGCCCTGCAGACTGGACCAGATCCTTTAATGGGATAGACACAACCCTGTCTGGGATGCCTCTGCCTACCTTCCTGTTTTGCTGCTCCACCTGCCTCCAGCTCCGTTTGGCTTCCTGGGGCTCCCTGCCTGGGCCACTTTGTGTCTTCCCTCTAGGCCTTTCTTTCCACTGTTCCCTCTGCCTGGTGTGGCCTGGCTATGGAAGGGAGGGAGGAGGAGCGGCCATGGAAAACGGTCTGCATTCTAGCAGGGACTTGCAGGTGGCAATTCAGTCGGGGAAGACTCTAGATGCACCTGGCCTGAGGAGAGAATGAAGGGTTCTAGTTGGACTGTGTTAAGTTTGAGGTGCCCATGGTGTGAGGTCTGGAGCTCAGCGCAGAGATGATGCAATGTGGTGGGTCCATGCAACATGGTGCCAGGACGCAGAGCTTGGGGTGAACTCAGCTTTCACCCCTTACCGGTTCTCGTGGGATCTTGGGAAGCCACTTTCTTCTATGAGCTTTGTCGTTCTTGTCTGTAAAATGGGCACATAACCCTGTCCCTGTCCTTCTCACAGGTTGCTGTGAGACTCCAATGAGTTGAAGGATGTGCAGATGCTTTTGGAAGTGAAAAGTTGGGGGGCTACTGTGTGACTTTGCATACACCCAAACTGTGTGACCTTGCATATGTCTGAGTTGCTGCCATTGCAACAGATCAGAGCTGGTGGGCTGGGTGTGGAGAAAGGGTTTGTGTGGGGGACATCCTCTGGCAAGGGTGGCAGCAGCAGAAGTGAGGGGCCTGGTCGGTCATGTGTGCTGACCCGGCCTGGGCAGCCTGTGGCCAGGGAGAGGACAGCTCCTCTGTAGGAAGAGCCTGTTCCTTTCCAACCAGGTGAGACCTCTTCAGTGGAGCCCTGGAGCCCCCTGTACTCCACATCAGTGCCTCAGGGACCTCCCGGAGCAGGCTAATATCAGAGACCAAGAGGGACACTGGCAGAGGATCACAGAGACCCCAGTCCAGGCAGGGACTGAGAAGATCTTGCCCCCTAAGTTAGTTTCCTAGCACTGCTGTGACAAATTACCACCCCCTCGGTTGGAACAAGTTGATTCTCTGCAGTCCTGGAGGCCAGAAGCCTGAATCAGTGTCGGCAGGACCACTTTCTCCCGGGGGGCTCCAGGGAGAAGCTTCTCTTGCCTCTTCCGTGTCCCAACAGCGGCAGCACACCAATCCCAGCCTCTGTCTTCACACAGCCTTCTCTGTGTCTCTCTCCTCTTCATTGTCTCATAAGGACACTTGTCATTGGATTTAGGGCCCACTGGATCCTCCAGGATGATCTCATGTGGGGAACCTTAACCACATCTGCAAGGACCCTTTTTCCAAATAAGGTCACAGCCACAGGTTGTGGGGGTTAGGATGTGAGTGTATCTCTTTGGCAGCCACTGTTCCCTCCTCTCCCTTGGGCCAGAAGCAGACGTGGGGCCCTTTCTTCCCCATAGGATGCCCATGGATTGCCCCCCTTCCCGCTTCCCCCGAGTGTCTGTGGGAGGTGGCAGGAATGGCAGGCAGGGGTGTGGAACCCCTTCTGGAGTCATATCAAGGGCTTGGCTGGAGGAAGTCCTCCTGGAGCTGTTGGGCTGGCATGGNN	benign	9,613

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