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 6, location 7580764, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | GGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAA | GGTTACTTCCATGCTCCAATACGCTGCTTTAAATGAACTTAAGTAATAGTCATAATATTGCAACAACTTTGCCAAACAAAAGTCACTTGATTTAATGTTTGGTTAAGGAATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAANNNN | pathogenic | 105,404 |
Variant at chromosome 6, position 7580872, gene DSP (desmoplakin): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | AATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGA | AATTTGCTTTATTTCTCTGTGTTAAAGATAACATCTTGGACTAGGTATATTTGAATTTTTTATATTCAGTGATTGTTCCCTTTATTCCTCATTTATGATACTTAAATTGAGATTATATGTAAACTTATTTTAATGTAAACTTGAAATAAAGGGAATATAATTTATGAAATCATAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGANN | pathogenic | 105,412 |
Regarding the variant at chromosome 6 and position 7581044, affecting gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGA | TAAGCTTTTGATTTTGAAAGAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGAN | pathogenic | 105,433 |
Gene DSP (desmoplakin) variant at chromosome position 7581063 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | GAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCC | GAAATTACCTCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCN | pathogenic | 105,434 |
A mutation at chromosome position 7581072 on chromosome 6 in gene DSP (desmoplakin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa', 'Woolly_hair-skin_fragility_syndrome'] | TCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGA | TCATTTTACAGATGAGGTAGCTCAGACTCAAAGATAATATATCATTTGCTAAGAGCATATGAGCAGCTGGTGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGTTCTTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGAN | pathogenic | 105,436 |
Clinical significance of chromosome 6, position 7581142, gene DSP (desmoplakin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGAC | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGA | pathogenic | 105,441 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7581142: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa'] | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGAC | TGCAAGAATTATGATGAGAATCCAGATTTCTTGAATATTTGCCTAGTCACTCTTTGCATGTATGTCCATGTGTGTAAAGAGAAATAAGAATGCACATTGGTCTGGGAGGGGAAAAGTACTGCTTCTTTCTTGGAATGTGAGGTGTTTTTCTTTTGACATAATCTCTGATTTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACN | pathogenic | 105,442 |
A genetic variant at chromosome 6, position 7581311, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTA | TTCATTCCACAGCTGAAAAATACCAAGATCGAAGTTTTGGAAGAGGAGCTCAGACTGGCCCGAGATGCCAACTCGGAAAACTGTAATAAGAACAAATTCCTGGATCAGAACCTGCAGAAATACCAGGCAGAGTGTTCCCAGTTCAAAGCGAAGCTTGCGAGCCTGGAGGAGCTGAAGAGACAGGCTGAGCTGGATGGGAAGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTANN | pathogenic | 105,452 |
Is the chromosome 6, position 7581510 variant in DSP (desmoplakin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATC | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCNN | pathogenic | 105,472 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7581510: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia'] | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATC | AGTCGGCTAAGCAAAATCTAGACAAGTGCTACGGCCAAATAAAAGAACTCAATGAGAAGATCACCCGACTGACTTATGAGATTGAAGATGAAAAGAGAAGAAGAAAATCTGTGGAAGACAGATTTGACCAACAGAAGAATGACTATGACCAACTGCAGAAAGCAAGGCAATGTGAAAAGGAGAACCTTGGTTGGCAGAAATTAGAGTCTGAGAAAGCCATCAAGGAGAAGGAGTACGAGATTGAAAGGTTGAGGGTTCTACTGCAGGAAGAAGGCACCCGGAAGAGAGAATATGAAAATGAGCTGGCAAAGGTAAGAAACCACTATAATGAGGAGATGAGTAATTTAAGGAACAAGTATGAAACAGAGATTAACATTACGAAGACCACCATCAAGGAGATATCCATGCAAAAAGAGGATGATTCCAAAAATCTTAGAAACCAGCTTGATAGACTTTCAAGGGAAAATCGAGATCTGAAGGATGAAATTGTCAGGCTCAATGACAGCATCTTGCAGGCCACTGAGCAGCGAAGGCGAGCTGAAGAAAACGCCCTTCAGCAAAAGGCCTGTGGCTCTGAGATAATGCAGAAGAAGCAGCATCTGGAGATAGAACTGAAGCAGGTCATGCAGCAGCGCTCTGAGGACAATGCCCGGCACAAGCAGTCCCTGGAGGAGGCTGCCAAGACCATTCAGGACAAAAATAAGGAGATCGAGAGACTCAAAGCTGAGTTTCAGGAGGAGGCCAAGCGCCGCTGGGAATATGAAAATGAACTGAGTAAGGTAAGAAACAATTATGATGAGGAGATCATTAGCTTAAAAAATCAGTTTGAGACCGAGATCAACATCACCAAGACCACCATCCACCAGCTCACCATGCAGAAGGAAGAGGATACCAGTGGCTACCGGGCTCAGATAGACAATCTCACCCGAGAAAACAGGAGCTTATCTGAAGAAATAAAGAGGCTGAAGAACACTCTAACCCAGACCACAGAGAATCTCAGGAGGGTGGAAGAAGACATCCAACAGCAAAAGGCCACTGGCTCTGAGGTGTCTCAGAGGAAACAGCAGCTGGAGGTTGAGCTGAGACAAGTCACTCAGATGCGAACAGAGGAGAGCGTAAGATATAAGCAATCTCTTGATGATGCTGCCAAAACCATCCAGGATAAAAACAAGGAGATAGAAAGGTTAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCNNNN | pathogenic | 105,473 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 7582695, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCA | TAAAACAACTGATCGACAAAGAAACAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCANN | pathogenic | 105,478 |
Mutation found at chromosome 6 position 7582719, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTG | CAAATGACCGGAAATGCCTGGAAGATGAAAACGCGAGATTACAAAGGGTCCAGTATGACCTGCAGAAAGCAAACAGTAGTGCGACGGAGACAATAAACAAACTGAAGGTTCAGGAGCAAGAACTGACACGCCTGAGGATCGACTATGAAAGGGTTTCCCAGGAGAGGACTGTGAAGGACCAGGATATCACGCGGTTCCAGAACTCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGT | pathogenic | 105,480 |
Determine if the mutation at chromosome 6, position 7582922 in gene DSP (desmoplakin) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACC | TCTCTGAAAGAGCTGCAGCTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCNNNN | pathogenic | 105,492 |
Benign or pathogenic: chromosome 6, position 7582940, gene DSP (desmoplakin) variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'DSP-related_disorder', 'Familial_isolated_arrhythmogenic_right_ventricular_dysplasia', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa'] | CTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGT | CTGCAGAAGCAGAAGGTGGAAGAGGAGCTGAATCGGCTGAAGAGGACCGCGTCAGAAGACTCCTGCAAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTNNNN | pathogenic | 105,493 |
A mutation at chromosome position 7583006 on chromosome 6 in gene DSP (desmoplakin): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCC | AAGAGGAAGAAGCTGGAGGAAGAGCTGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATC | pathogenic | 105,497 |
Benign or pathogenic: chromosome 6, position 7583031, gene DSP (desmoplakin) variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGA | TGGAAGGCATGAGGAGGTCGCTGAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGANN | pathogenic | 105,500 |
Clinical impact (benign or pathogenic) of the variant at chromosome 6, location 7583053, gene DSP (desmoplakin): what disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiomyopathy'] | GAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCT | GAAGGAGCAAGCCATCAAAATCACCAACCTGACCCAGCAGCTGGAGCAGGCATCCATTGTTAAGAAGAGGAGTGAGGATGACCTCCGGCAGCAGAGGGACGTGCTGGATGGCCACCTGAGGGAAAAGCAGAGGACCCAGGAAGAGCTGAGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAGAGTTAGATAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTT | pathogenic | 105,502 |
Clinically, how would you classify the variant at chromosome 6, position 7583201, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | AGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCAC | AGGAGGCTCTCTTCTGAGGTCGAGGCCCTGAGGCGGCAGTTACTCCAGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCA | pathogenic | 105,515 |
Does the genetic variant at chromosome 6, position 7583247, impacting gene DSP (desmoplakin), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGG | AGGAACAGGAAAGTGTCAAACAAGCTCACTTGAGGAATGAGCATTTCCAGAAGGCGATAGAAGATAAAAGCAGAAGCTTAAATGAAAGCAAAATAGAAATTGAGAGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGN | pathogenic | 105,517 |
Gene mutation in DSP (desmoplakin) at chromosome 6, position 7583351—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa', 'Woolly_hair-skin_fragility_syndrome'] | AGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCA | AGGCTGCAGTCTCTCACAGAGAACCTGACCAAGGAGCACTTGATGTTAGAAGAAGAACTGCGGAACCTGAGGCTGGAGTACGATGACCTGAGGAGAGGACGAAGCGAAGCGGACAGTGATAAAAATGCAACCATCTTGGAACTAAGGAGCCAGCTGCAGATCAGCAACAACCGGACCCTGGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCANN | pathogenic | 105,522 |
Mutation at chromosome 6, position 7583530, within DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiac_arrhythmia'] | GGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAA | GGAACTGCAGGGGCTGATTAATGATTTACAGAGAGAGAGGGAAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAN | pathogenic | 105,534 |
Is the chromosome 6, position 7583571 variant in DSP (desmoplakin) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | AAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATA | AAAATTTGAGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGCAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAN | pathogenic | 105,537 |
Regarding the variant found on chromosome 6 at position 7583579 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCC | AGACAGGAAATTGAGAAATTCCAAAAGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCN | pathogenic | 105,538 |
A genetic variant at chromosome 6, position 7583604, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Cardiovascular_phenotype'] | AGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATA | AGCAGGCTTTAGAGGTATTCACAAATACTTGATCACAGCTTCACTGTTTCTCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATANNNN | pathogenic | 105,540 |
Does the variant impacting DSP (desmoplakin) on chromosome 6, position 7583654, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Primary_dilated_cardiomyopathy'] | TCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTA | TCAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTAN | pathogenic | 105,547 |
Evaluate if the mutation on chromosome 6 at position 7583655 in DSP (desmoplakin) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTAC | CAAATTATTCATCACATTATTATCTCATCTGAACTGTGCTCTTTCTGCTTAAATAGATGCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTA | pathogenic | 105,548 |
Mutation at chromosome 6, position 7583713, within DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | GCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATC | GCTTATAGAAAATCTAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGAT | pathogenic | 105,554 |
The mutation in gene DSP (desmoplakin) at chromosome 6, position 7583727—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTC | TAATTTTTCTTTTTATTGCTCTACTACTTCCTGTCATAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCT | pathogenic | 105,557 |
Gene DSP (desmoplakin) variant at chromosome position 7583763 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis', 'Cardiovascular_phenotype', 'Keratosis_palmoplantaris_striata_2', 'Lethal_acantholytic_epidermolysis_bullosa', 'Woolly_hair-skin_fragility_syndrome'] | TAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCT | TAATCCAGGTAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTNNNN | pathogenic | 105,562 |
Evaluate the clinical significance of the mutation at chromosome 6, position 7583772 in gene DSP (desmoplakin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCA | TAACTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAACTAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGC | pathogenic | 105,563 |
Variant in gene DSP (desmoplakin), located at chromosome 6 position 7583775: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAG | CTGCTTTAAAATAATTTCAATGCTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGN | pathogenic | 105,564 |
Regarding the variant found on chromosome 6 at position 7583797 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiomyopathy'] | CTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTC | CTGTGTGCCCTGCTGTTCTTTAATTGCATCAAATGCTGATCTCTGGGTAGCCTGTGTTTGGCCCTGCTTTTAAGAACACTAATACATGTATAACTTCCTCCGAATGTTCCATTCTACTTCTTAGAAGTTAGCTCTTATTTAGTGAGCTATGACATACATTTGTAATGAAAATTTTCTTAAATAGAAGCCATACTAAAGTGTTTCCCTATGCAATTTTTAAAACACTTTTTCTTTTGCCTGCTTAGATGATTTTTTTGCATGGATTATTTAGTGTTCGCTTTTGATCATGGCCCTAGTGTGTTTCCTTTTGTTTGACTTTCCTTCTCCTAACCCTTAATTTAAAAATAACTTATTTAACTTCTACAGACAATATTTGTGTGTGGCTGGGTTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCNN | pathogenic | 105,566 |
Located at chromosome 6 position 7584197, the variant affecting gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCA | TGTGTGTGTGTGTGTGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCAN | pathogenic | 105,596 |
Clinically, how would you classify the variant at chromosome 6, position 7584211, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_cardiomyopathy', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTC | TGTGTATATCTATATATTATATATATAATTATATAATTACATAATATATATTTATCTATAATATATATTTTATATAATATATATCTTCATATATTTGTATTGCTTCATTAAGTATGTTCATCTAGCTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCNN | pathogenic | 105,599 |
Is chromosome 6, position 7584336, gene DSP (desmoplakin) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTC | CTGTAACAGGTGAGATGTAGGTGTAGCAGGTATGATAACCTGAAACAAAACTCCCCACATTTTTTCAAAGCATAATTATTGTTAAGAGTAAGACAGGTCTGCAACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCTCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCN | pathogenic | 105,607 |
Regarding the variant at chromosome 6 and position 7584438, affecting gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Cardiovascular_phenotype'] | AACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTT | AACTTACAGTTCCTTCTATAGAAAAAAATAGTAAGTATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTNN | pathogenic | 105,618 |
Clinical classification of chromosome 6, position 7584473, gene DSP (desmoplakin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | TATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTT | TATGAAGCCATTTATTGAAGTGGCAACATATACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTNNNN | pathogenic | 105,621 |
Does the variant on chromosome 6 at location 7584504 affecting gene DSP (desmoplakin) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Lethal_acantholytic_epidermolysis_bullosa'] | ACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGG | ACAGAATTTTTCCCACAAATTTGTAAAATAACAAGCTCACAGTGTATCCAGGGACAATATAGAAAGAAAAAATAAGCAAGGCTTTTTTTTTTAAAGATAGATACACAAAAGAAAGTTAAGTCGTGATAGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGN | pathogenic | 105,624 |
Does the variant impacting DSP (desmoplakin) on chromosome 6, position 7584631, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiac_arrhythmia'] | AGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAAT | AGTAATATGATATGATTCAAAACATTATTTTTTCCCATTTCTTTCTTCTTCAATTCCAGGCATCTAATAGGATTCAGGAATCAAAGAATCAGTGTACTCAGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATNN | pathogenic | 105,630 |
Is the variant located on chromosome 6 at position 7584730, gene DSP (desmoplakin), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | AGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGG | AGGTGGTACAGGAAAGAGAGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTTGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGN | pathogenic | 105,634 |
Variant chromosome 6, position 7584748, gene DSP (desmoplakin): benign or pathogenic? Disease(s)? | pathogenic; ['Cardiovascular_phenotype'] | AGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGC | AGAGCCTTCTGGTGAAAATCAAAGTCCTGGAGCAAGACAAGGCAAGGCTGCAGAGGCTGGAGGATGAGCTGAATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCNN | pathogenic | 105,636 |
Gene DSP (desmoplakin) variant at chromosome position 7584820 on chromosome 6: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | ATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCA | ATCGTGCAAAATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCANNNN | pathogenic | 105,642 |
The genetic variant at chromosome 6, position 7584829, affecting gene DSP (desmoplakin): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype', 'Primary_dilated_cardiomyopathy'] | AATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAA | AATCAACTCTAGAGGCAGAAACCAGGGTGAAACAGCGCCTGGAGTGTGAGAAACAGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAANNNN | pathogenic | 105,644 |
Clinical classification of chromosome 6, position 7584883, gene DSP (desmoplakin): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | AGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTAT | AGCAAATTCAGAATGACCTGAATCAGTGGAAGACTCAATATTCCCGCAAGGAGGAGGCTATTAGGAAGATAGAATCGGAAAGAGAAAAGAGTGAGAGAGAGAAGAACAGTCTTAGGAGTGAGATCGAAAGACTCCAAGCAGAGATCAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATN | pathogenic | 105,648 |
Benign or pathogenic: chromosome 6, position 7585028, gene DSP (desmoplakin) variant? Disease(s) if pathogenic? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy'] | CAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTAC | CAAGAGAATTGAAGAGAGGTGCAGGCGTAAGCTGGAGGATTCTACCAGGGAGACACAGTCACAGTTAGAAACAGAACGCTCCCGATATCAGAGGGAGATTGATAAACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACNNNN | pathogenic | 105,662 |
Variant in DSP (desmoplakin), chromosome 6, position 7585132—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | AACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCC | AACTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCNN | pathogenic | 105,667 |
A genetic variant on chromosome 6, position 7585134, affects the gene DSP (desmoplakin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | CTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCC | CTCAGACAGCGCCCATATGGGTCCCATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACAACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCC | pathogenic | 105,668 |
A genetic alteration at chromosome 6, position 7585159, in gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma'] | ATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGG | ATCGAGAGACCCAGACTGAGTGTGAGTGGACCGTTGACACCTCCAAGCTGGTGTTTGATGGGCTGAGGAAGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGG | pathogenic | 105,670 |
A genetic variant at chromosome 6, position 7585228, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | AGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAA | AGAAGGTGACAGCAATGCAGCTCTATGAGTGTCAGCTGATCGACAAAACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAANNNNN | pathogenic | 105,674 |
Regarding the variant found on chromosome 6 at position 7585275 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8'] | ACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAA | ACAACCTTGGACAAACTATTGAAGGGGAAGAAGTCAGTGGAAGAAGTTGCTTCTGAAATCCAGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGA | pathogenic | 105,679 |
Mutation at chromosome 6, position 7585336, within DSP (desmoplakin): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiomyopathy,_dilated,_with_wooly_hair,_keratoderma,_and_tooth_agenesis'] | AGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCC | AGCCATTCCTTCGGGGTGCAGGATCTATCGCTGGAGCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCNNNN | pathogenic | 105,681 |
Is the genetic mutation found on chromosome 6 at position 7585371, within the gene DSP (desmoplakin), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCA | GCATCTGCTTCTCCTAAGGAAAAATACTCTTTGGTAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCANNN | benign | 105,686 |
A genetic variant on chromosome 6, position 7585405, affects the gene DSP (desmoplakin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | TAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTA | TAGAGGCCAAGAGAAAGAAATTAATCAGCCCAGAATCCACAGTCATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTT | pathogenic | 105,692 |
Variant chromosome 6, position 7585448, gene DSP (desmoplakin): benign or pathogenic? Disease(s)? | pathogenic; ['Arrhythmogenic_cardiomyopathy_with_wooly_hair_and_keratoderma', 'Arrhythmogenic_right_ventricular_dysplasia_8', 'Cardiovascular_phenotype'] | CATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCAT | CATGCTTCTGGAGGCCCAGGCAGCTACAGGTGGTATAATTGATCCCCATCGGAATGAGAAGCTGACTGTCGACAGTGCCATAGCTCGGGACCTCATTGACTTCGATGACCGTCAGCAGATATATGCAGCAGAAAAAGCTATCACTGGTTTTGATGATCCATTTTCAGGCAAGACAGTATCTGTTTCAGAAGCCATCAAGAAAAATTTGATTGATAGAGAAACCGGAATGCGCCTGCTGGAAGCCCAGATTGCTTCAGGGGGTGTAGTAGACCCTGTGAACAGTGTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATN | pathogenic | 105,697 |
Located at chromosome 6 position 7585731, the variant affecting gene DSP (desmoplakin)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCT | GTCTTTTTGCCAAAAGATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTNNNNNNNNNNNN | benign | 105,726 |
A genetic variant on chromosome 6, position 7585746, affects the gene DSP (desmoplakin). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | benign | GATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAAC | GATGTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACNNNNNNNNNNNN | benign | 105,730 |
Regarding the variant found on chromosome 6 at position 7585749 in gene DSP (desmoplakin): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTG | GTCGCCTTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGNNNNNNNNNNNN | benign | 105,731 |
The genetic variant at chromosome 6, position 7585755, affecting gene DSP (desmoplakin): benign or pathogenic? Disease name(s) if pathogenic? | benign | TTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCAT | TTGGCCCGGGGGCTGATTGATAGAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATNNNNNNNNNNNN | benign | 105,735 |
A genetic variant at chromosome 6, position 7585777, affecting gene DSP (desmoplakin)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATGGGTGGCTATCAGTCTTATCTG | GAGATTTGTATCGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCAGTGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATGGGTGGCTATCAGTCTTATCTG | benign | 105,741 |
Evaluate this variant at chromosome 6, position 7585788, gene DSP (desmoplakin): benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | CGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATGGGTGGCTATCAGTCTTATCTGATTAGAGTACC | CGATCCCTGAATGATCCCCGAGATAGTCAGAAAAACTTTGTGGATCCAGTCACCAAAAAGAAGGTCAGTTACGTGCAGCTGAAGGAACGGTGCAGAATCGAACCACATACTGGTCTGCTCTTGCTTTCAGTACAGAAGAGAAGCATGTCCTTCCAAGGAATCAGACAACCTGTGACCGTCACTGAGCTAGTAGATTCTGGTATATTGAGACCGTCCACTGTCAATGAACTGGAATCTGGTCAGATTTCTTATGACGAGGTTGGTGAGAGAATTAAGGACTTCCTCCAGGGTTCAAGCTGCATAGCAGGCATATACAATGAGACCACAAAACAGAAGCTTGGCATTTATGAGGCCATGAAAATTGGCTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATGGGTGGCTATCAGTCTTATCTGATTAGAGTACCNNNNNNNNNNNN | benign | 105,743 |
Gene DSP (desmoplakin) variant at chromosome 6, position 7586153—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | CTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTCTCTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATGGGTGGCTATCAGTCTTATCTGATTAGAGTACCCACCCCTCCTTTATGACCTCATTTAACTTTAATTACCTCTTAGGGCTCTATCTCCTTATACAGTCACATTGTGGGTTGGTACTTCAACATAGGCATTTTTGAGGGACTCAATCCAATCCATAACAGAGGCCTAGCCTAGAACAGGAGTCTGGAGACCACTCCAGGAAAGTGATATCAAAACAGATCAGCAGCATCAGTGTAGAGCAGTTCCTCGGGCTGAAACAGTAACTAGAGAGTACAGTCAATTGACAAATCTTTCCTACTCCCTCCAGGCTTGTGCCAATGTTGTCATGAAGCTCTGAGATGACATGGGGCTGTATCCTGAAGAGAGGATATGTTTGACGTGGGCTAAGTTTTAATTTGGT | CTTAGTCCGACCTGGTACTGCTCTGGAGTTGCTGGAAGCCCAAGCAGCTACTGGCTTTATAGTGGATCCTGTTAGCAACTTGAGGTTACCAGTGGAGGAAGCCTACAAGAGAGGTCTGGTGGGCATTGAGTTCAAAGAGAAGCTCCTGTCTGCAGAACGAGCTGTCACTGGGTATAATGATCCTGAAACAGGAAACATCATCTCTTTGTTCCAAGCCATGAATAAGGAACTCATCGAAAAGGGCCACGGTATTCGCTTATTAGAAGCACAGATCGCAACCGGGGGGATCATTGACCCAAAGGAGAGCCATCGTTTACCAGTTGACATAGCATATAAGAGGGGCTATTTCAATGAGGAACTCAGTGAGATTCTCTCAGATCCAAGTGATGATACCAAAGGATTTTTTGACCCCAACACTGAAGAAAATCTTACCTATCTGCAACTAAAAGAAAGATGCATTAAGGATGAGGAAACAGGGCTCTGTCTTCTGCCTCTGAAAGAAAAGAAGAAACAGGTGCAGACATCACAAAAGAATACCCTCAGGAAGCGTAGAGTGGTCATAGTTGACCCAGAAACCAATAAAGAAATGTCTGTTCAGGAGGCCTACAAGAAGGGCCTAATTGATTATGAAACCTTCAAAGAACTGTGTGAGCAGGAATGTGAATGGGAAGAAATAACCATCACGGGATCAGATGGCTCCACCAGGGTGGTCCTGGTAGATAGAAAGACAGGCAGTCAGTATGATATTCAAGATGCTATTGACAAGGGCCTTGTTGACAGGAAGTTCTTTGATCAGTACCGATCCGGCAGCCTCAGCCTCACTCAATTTGCTGACATGATCTCCTTGAAAAATGGTGTCGGCACCAGCAGCAGCATGGGCAGTGGTGTCAGCGATGATGTTTTTAGCAGCTCCCGACATGAATCAGTAAGTAAGATTTCCACCATATCCAGCGTCAGGAATTTAACCATAAGGAGCAGCTCTTTTTCAGACACCCTGGAAGAATCGAGCCCCATTGCAGCCATCTTTGACACAGAAAACCTGGAGAAAATCTCCATTACAGAAGGTATAGAGCGGGGCATCGTTGACAGCATCACGGGTCAGAGGCTTCTGGAGGCTCAGGCCTGCACAGGTGGCATCATCCACCCAACCACGGGCCAGAAGCTGTCACTTCAGGACGCAGTCTCCCAGGGTGTGATTGACCAAGACATGGCCACCAGGCTGAAGCCTGCTCAGAAAGCCTTCATAGGCTTCGAGGGTGTGAAGGGAAAGAAGAAGATGTCAGCAGCAGAGGCAGTGAAAGAAAAATGGCTCCCGTATGAGGCTGGCCAGCGCTTCCTGGAGTTCCAGTACCTCACGGGAGGTCTTGTTGACCCGGAAGTGCATGGGAGGATAAGCACCGAAGAAGCCATCCGGAAGGGGTTCATAGATGGCCGCGCCGCACAGAGGCTGCAAGACACCAGCAGCTATGCCAAAATCCTGACCTGCCCCAAAACCAAATTAAAAATATCCTATAAGGATGCCATAAATCGCTCCATGGTAGAAGATATCACTGGGCTGCGCCTTCTGGAAGCCGCCTCCGTGTCGTCCAAGGGCTTACCCAGCCCTTACAACATGTCTTCGGCTCCGGGGTCCCGCTCCGGCTCCCGCTCGGGATCTCGCTCCGGATCTCGCTCCGGGTCCCGCAGTGGGTCCCGGAGAGGAAGCTTTGACGCCACAGGGAATTCTTCCTACTCTTATTCCTACTCATTTAGCAGTAGTTCTATTGGGCACTAGTAGTCAGTTGGGAGTGGTTGCTATACCTTGACTTCATTTATATGAATTTCCACTTTATTAAATAATAGAAAAGAAAATCCCGGTGCTTGCAGTAGAGTGATAGGACATTCTATGCTTACAGAAAATATAGCCATGATTGAAATCAAATAGTAAAGGCTGTTCTGGCTTTTTATCTTCTTAGCTCATCTTAAATAAGCAGTACACTTGGATGCAGTGCGTCTGAAGTGCTAATCAGTTGTAACAATAGCACAAATCGAACTTAGGATTTGTTTCTTTTCTGTGTTTCGATTTTTGATCAATTCTTTAATTTTGGAAGCCTATAATACAGTTTTCTATTCTTGGAGATAAAAATTAAATGGATCACTGATATTTTAGTCATTCTGCTTCTCATCTAAATATTTCCATATTCTGTATTAGGAGAAAATTACCCTCCCAGCACCAGCCCCCCTCTCAAACCCCCAACCCAAAACCAAGCATTTTGGAATGAGTCTCCTTTAGTTTCAGAGTGTGGATTGTATAACCCATATACTCTTCGATGTACTTGTTTGGTTTGGTATTAATTTGACTGTGCATGACAGCGGCAATCTTTTCTTTGGTCAAAGTTTTCTGTTTATTTTGCTTGTCATATTCGATGTACTTTAAGGTGTCTTTATGAAGTTTGCTATTCTGGCAATAAACTTTTAGACTTTTGAAGTGTTTGTGTTTTAATTTAATATGTTTATAAGCATGTATAAACATTTAGCATATTTTTATCATAGGTCTAAAAATATTTGTTTACTAAATACCTGTGAAGAAATACCATTAAAAAACTATTTGGTTCTGAATTCTTACTAGAAGGTGGTCTTTTGAAGTTAGTCCTTTCGGTACTTCTCAGATGCCTGTCATGTACCCGATGGAGTCCTTGGAAAGAAGGCCTGTGTAAAGAGGCCAGCCTGGAGGTCAATAACCTGTTCTAGTTTATTCTGGACATTGAGTACCAAGTAGCATTGGCAAAAGTCATCATCATAGCATTGAAAAAACATGAAGTTGCTAAGATGCTTTTTGGGTATCCTCAAAATAGATAGTGTTTCACTTTGTCCCGTAAGAGGAAAGAATTGTCCTGGAACCCATGAAAATGATTTCTGAAGAGTTCTTGGCTCTCTGTTGAAGGACAAGGAAGTATAAGCCTATTCCTTTGGATCAAAGAGAAACTACTGAAATTCACACATTTGTCATTAGATTAACATGACTTCACTGAATACCCACCATGTCTAGTATTGGGTTAGGTACTATGAAGACTGAGTAGAATTTACAAGCCCCCGACAACAAAGCATTGGCAATATGGGTGGGGACAGAAACAGATAAAGCAATCAGTGGGACAACTTTCAAATGTCAGCAGTATATATTAATACAAATTTTATAGTACAGATAGAAAATAGGAAAACATGCTAATTGTATAGAACAAAAATCAAGATTAGATTAATTATTGGGGGCTTTTGGTACTTAGGGTGAAAGTCACCTCCATTCTCATTGCATGGGCTATTTTTCCTCCACAGCACTCTTTTCTTCCTTATTTCACCTCTTCTTCCTTACTCCCTCTCCTAATTTGGAGGAGTTGAAATTAATTTTATGCATTAAATACTGAGTTCGCGTGCCATGCATTGTGCCAGAAGCCATGGAGTCTGTGCTAGAAATACATGGTGAAAAAGAGCCCTCATAATCCAAAAGGAAGAAGAAAATGTGGTAAATGCTGTATTGGGAAAAATGAAGGAAATTCCTTATGCTAGAGCTGGGAGACTATATTAGTCACCTCACCCTGCCATAACAAGATGCCACAGACTGTGAGCGGCTTAAACGGAAGTGTATTTTCTCACAGTTCTGGAAGCTAAAAGTACAAGCTCAAGATGCAGGCAGGGCTGGTTTCTAGTGAAACCTGGCTCATGGGTGGCTATCAGTCTTATCTGATTAGAGTACCCACCCCTCCTTTATGACCTCATTTAACTTTAATTACCTCTTAGGGCTCTATCTCCTTATACAGTCACATTGTGGGTTGGTACTTCAACATAGGCATTTTTGAGGGACTCAATCCAATCCATAACAGAGGCCTAGCCTAGAACAGGAGTCTGGAGACCACTCCAGGAAAGTGATATCAAAACAGATCAGCAGCATCAGTGTAGAGCAGTTCCTCGGGCTGAAACAGTAACTAGAGAGTACAGTCAATTGACAAATCTTTCCTACTCCCTCCAGGCTTGTGCCAATGTTGTCATGAAGCTCTGAGATGACATGGGGCTGTATCCTGAAGAGAGGATATGTTTGACGTGGGCTAAGTTTTAATTTGGTNNN | benign | 105,754 |
Does the variant on chromosome 6 at location 10398692 affecting gene TFAP2A (transcription factor AP-2 alpha) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Abnormality_of_visual_evoked_potentials', 'Amblyopia', 'Branchiooculofacial_syndrome', 'EEG_abnormality', 'Epicanthus', 'Esotropia', 'High_palate', 'Hypertelorism', 'Iris_coloboma', 'Lens_subluxation', 'Low-set_ears', 'Microphthalmia', 'Nystagmus', 'Short_neck'] | TGGTTTCCAAAACACAAATGAAAACCTAAAGGATCAACATAAATAAAATAAAACTTTATTTTTAATAATAAAATTAATGTTTCTAGTAAGGAAAAGACAGTATGTCATTCCTTTAGCAGTACAAACAATCTTTTATCCAAAAGAATACATTGGGTTTTATTGTGTCATTTGTCTGAATACAGACACAGTGGAATATCTAAATGATACCCTGCTCTGAACTCCAAGTTGAAAGTAAGTTTTTATTATACTTGAGGGAAACAATGGGTTCAGCTGCTTATTGCAAGGAGCAATTGCCAAGGGAGAGTTAAACTCAATTACTGTAACCATACTGAATAAAAAATACTGCCAAGAACAAAAATACGCCTGGGTAAAGACAGCCACTGAATAAAAAAAAATCGACATAAAGCGTATCAAATATTTATTTATCTGGGCAACAAAGGACTATGATACATTGACAGGCATGGAAACTACTGCCAGCACAACTCAATACAATGCAACTAGAACTGCTTCCAATATGGCCAGTGAAAATACAGAATACCAGGTGGTCCCAAATGTTTGAAGTTCTTTGAACAGAAAGAGAGAGGAGAGAGAGAGAGAGAGGAAAATTCCCTAACCCTTGGTTTAAAGACAATATTCATTTATTGCTCAAATGATGCTTTTAAGGGAGGACAGTGGAATAAAATAAACTTTTTTTTTTCTCCCTACAATACATAGAAGGGTTATCAAACCACTCAAGTTTCAAAATCTTTCCAGGGTCCAATATCACTTTTTTTCTTTCGGTTCAATGAAAAGCTAAATGTAATAATACTAATTATAGATAAAATTTTATTTTACTTTTTAAAAATTTGTCCAGCTGTTTGTCACCTTTAACATGCTACAACAGGGCTAAATTCATGAATCCCAGAGAAAAAAATCCCCCAAACACTGGATTTCTAAATCAGTACCATGAACCACATGAAGAACTAATAGGGAAGATTCAAAACCCACTAAACAAGAGGTAAACAAGATCAGATAAATAAAAAAAAAAAGGCTTAAAACAGACTCACCATATTTACAATTCCCATTAAATTACACATAAATAAATATATACAGAGACGTGAACACTGATTCCCTTATATAACTGCGAATCGTGTTGCCAGAGAAAGTTCAAGTTGGTCGCTTTACCTTAAAGAGGAAAAACTTCTACAACTGAAGACATGACATGGAACTTCGTGTATTTGTGTTCAAGTTTATTCACAATACTGATAAAAATGTTGTCATCATCTTTTGGCTTTTTTTTTTTTTTTAAGTATGGCTACAATCTGAACTGAAGTATGTAAGGGAAGGTGGTGACTCAGTCCCATGAAGCGCATATAATTTTTTTTATTTTCACTTTTTTTTTAGAAAAAAGTTTTTAATTTTTGTTGTTGTTGTTGCTGTTGTTGATTTGTTGTTTTGTTTAAAAAAAAAAGGGTTCACAAACTTGGCAGAACTTTTCTCTGCTGGCTTCACGGCCTGTTCTGTTCTCTTAGGCTCCACATGAGGGCACAGGGGTGTGGGAGCGGGTGGGGAGGTCGAGGCGGGTGCAGAGTCGGAGAGGCTGCCCCACTGACAGTCGAGAGGGCAGTCCCGGAGACTCGGGGGGACCCAAGGGCAGCGGCGGCGGCGGCGGCGGCAGCAGCAGCAGCAGTAGCAGCAGCAGGAAGGGTTGCTGATCCCGGAGCTGTCACCCGCCGGAGGGTGGGCGCGCGGGGGGCTGGTGAGGCGTGGGAGGGGCGGGGCGGGAGGAGAGCCTCACTTTCTGTGCTTCTCCTCTTTGTCACTGCTTTTGGCGTTGTTGTCCGTGTGGCTGTTGGGGTTGTTGCTGAGGTACATTTTGTCCATGGCCTTGAGGGCCTCGGTGAGATAGTTCTGCAGGGCCGTGACCGCGGCACACACCGCGGGGCTGCCGAAGCCGTGGGAGATGAGGTTGAAGTGGGTCAAGCAGCTCTGGATGCCGGGCTCCAGGATGGGGTTGGGCCGTGAGTTCCCCAGGGGAGATCGGTCCTGAGCCAGCAGGTCGGTGAACTCTTTGCATATCTGTCTGCAGCACAAGTGGAGCAGAGAGAGAGACATAAGGCTCCACTATGGGCAGCACTAGCAGCAAAGAGAAAACCTCCCTCCCTGCAGCTACCTCTGCCGGGATCCAGCCGGTACCTGACATGACCCAAGACCCCAGAGACAGACAGTGTGGCCACATGTTGGGAGATCCAGCCACCTTTCAGTGACCACTAAACCATCTCTCTTTACTTCCTACCTTCACAAATGACTCTCTCTCTCTTTCCTCTCAGATATGGTAAACTTTTATTCCCACCTTTCTCCCTCACACAAAACATCCTAGACATAGGAAACCATTTCACACATTGGAAGAGAAAGAAAGGAGTCACGCAGACCGGAAGTCAGAAACAGTAGCATCTTGCGAACATTATGCTGCAGCCATCAGCCTTCCTATTCAAAATGTCATAAAGACCCTCTTCCCTGCTCCTCTAGAGAGACCTCAGCAGCAGTTTGTAGAATGAAGTCCACACTCGTTCACCTTCAAATCAAATTCAGGTCAATGTGGACAGAGAGACAAAACTTTACTTGGGATTATTTTGCCTTTAAAAAACAAGAATAACAAAAAAACAAAACGGGCCCACACAAGCCCTGTTACTTGGAGATAATTCAAAGTAGTGTTTGGGAAGAAGAAACAGACATTTCGATTTCCCATTCCTCCTCTTTCCCCACATAGCTCAAAATAAAAATACTGCAGGGAAATTGTGGAGATGGGTGTGCTTACGAAGCCTGGGGAAAGAGAAAGTTGAAATTTCGCAGAGGTAGATGAGGCCTGCACTCAGGAAGCTCTGTCTCTGAATCTGGGAAGCAAGGGCTAGCTGGGGCCTTCCAGGGGCAGCAGCAGCCTGGCCTGGGGGGCTGGGGAGGGGGATGAATGAGGAGCCTGGGCTGGCTCCCTTCTCCAAGGCCAGCTGATGTCCCCAGGCCAGAAACAGGGTCCCACCCAAGGCCTCAGCTTCTGCCCTCTGCTTCCATGCCCTCCTGTGACATCAACTTTGATAATTAAGGGCTTCCAAACAAGCCTTTTAATTTCCAGAAAACACATCAAAACAGTCATTTTCTTTTCACACATCACCTGGAGAAGCCTATTCAGCCCAGGCACCGATGGGAATATAACTTGGGCCATTTTGAAATCTATTTGACTTCTCGCCTGTGGGCTAAAACTTATGTGGGGTGTGGGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTGTGTGTGTGTGTGTGTGTGTCACTTTCGAGAAGGGGTTGTGAAAGGAAGGTAAGAAATGGAATAACAGATTAGGGTTGAAACTAGGACAGCTTCTGGCTTGCACATTTTGCAGGCCACTGTTTAATCTTTGCCCTTGGAGAACATATTGATAGGATACAAAAACTGATATAGGTAAGCCTGTTACCCCTTTGAGGATTTGATTCTGGTCTTTCTGAAACAACATAGTCACAAATCCACCCTTAACTTCAGTCAAACCCCTCCTACAACCCACTCCCATACACACTCATTAAAAAAAAAAAAAAATGAGTAAATGGGACAGATGAGAGGAAAAAGATGGGAGCGCCCAAGAATCCCACCTGTATTTCTTCCTTAACATAGACTATATATAAGATGGTGTTATAACTGCAACAAAGCTGATTAACACAAAAGGAAAACAAGGGAGAAGGAAGAGCAAAAACGATTTTTGTTTCTCTTTCTCTTGACAACGAGACACAGAGACCCCATAGAGGTAAATGCCTTACTTTGTAGCCAGGAGCATGTTTTTTCTTGTCACTTGCTCATTGGGATCGGAATGTTGTCGGTTGAGAAATTCAGCTACTGCTTTGGCAGGAAATTCGGTTTCGCACACGTACCCAAAGTCCCTGGCTAGGTGGACAGCTTCTCCTGGCAAGAGGGGAGAGGAGGGAGCCAGTGCGAGAGAATGAAGAGTGGGGATCCTAACTTCCTCCCCACTCCCAACTCCCTAATTCCCTTCACCCCAGATGTTGCAGGAAACACAAACTACTTGTTTTCTCATTTCAGGCATTTTATTTC | TGGTTTCCAAAACACAAATGAAAACCTAAAGGATCAACATAAATAAAATAAAACTTTATTTTTAATAATAAAATTAATGTTTCTAGTAAGGAAAAGACAGTATGTCATTCCTTTAGCAGTACAAACAATCTTTTATCCAAAAGAATACATTGGGTTTTATTGTGTCATTTGTCTGAATACAGACACAGTGGAATATCTAAATGATACCCTGCTCTGAACTCCAAGTTGAAAGTAAGTTTTTATTATACTTGAGGGAAACAATGGGTTCAGCTGCTTATTGCAAGGAGCAATTGCCAAGGGAGAGTTAAACTCAATTACTGTAACCATACTGAATAAAAAATACTGCCAAGAACAAAAATACGCCTGGGTAAAGACAGCCACTGAATAAAAAAAAATCGACATAAAGCGTATCAAATATTTATTTATCTGGGCAACAAAGGACTATGATACATTGACAGGCATGGAAACTACTGCCAGCACAACTCAATACAATGCAACTAGAACTGCTTCCAATATGGCCAGTGAAAATACAGAATACCAGGTGGTCCCAAATGTTTGAAGTTCTTTGAACAGAAAGAGAGAGGAGAGAGAGAGAGAGAGGAAAATTCCCTAACCCTTGGTTTAAAGACAATATTCATTTATTGCTCAAATGATGCTTTTAAGGGAGGACAGTGGAATAAAATAAACTTTTTTTTTTCTCCCTACAATACATAGAAGGGTTATCAAACCACTCAAGTTTCAAAATCTTTCCAGGGTCCAATATCACTTTTTTTCTTTCGGTTCAATGAAAAGCTAAATGTAATAATACTAATTATAGATAAAATTTTATTTTACTTTTTAAAAATTTGTCCAGCTGTTTGTCACCTTTAACATGCTACAACAGGGCTAAATTCATGAATCCCAGAGAAAAAAATCCCCCAAACACTGGATTTCTAAATCAGTACCATGAACCACATGAAGAACTAATAGGGAAGATTCAAAACCCACTAAACAAGAGGTAAACAAGATCAGATAAATAAAAAAAAAAAGGCTTAAAACAGACTCACCATATTTACAATTCCCATTAAATTACACATAAATAAATATATACAGAGACGTGAACACTGATTCCCTTATATAACTGCGAATCGTGTTGCCAGAGAAAGTTCAAGTTGGTCGCTTTACCTTAAAGAGGAAAAACTTCTACAACTGAAGACATGACATGGAACTTCGTGTATTTGTGTTCAAGTTTATTCACAATACTGATAAAAATGTTGTCATCATCTTTTGGCTTTTTTTTTTTTTTTAAGTATGGCTACAATCTGAACTGAAGTATGTAAGGGAAGGTGGTGACTCAGTCCCATGAAGCGCATATAATTTTTTTTATTTTCACTTTTTTTTTAGAAAAAAGTTTTTAATTTTTGTTGTTGTTGTTGCTGTTGTTGATTTGTTGTTTTGTTTAAAAAAAAAAGGGTTCACAAACTTGGCAGAACTTTTCTCTGCTGGCTTCACGGCCTGTTCTGTTCTCTTAGGCTCCACATGAGGGCACAGGGGTGTGGGAGCGGGTGGGGAGGTCGAGGCGGGTGCAGAGTCGGAGAGGCTGCCCCACTGACAGTCGAGAGGGCAGTCCCGGAGACTCGGGGGGACCCAAGGGCAGCGGCGGCGGCGGCGGCGGCAGCAGCAGCAGCAGTAGCAGCAGCAGGAAGGGTTGCTGATCCCGGAGCTGTCACCCGCCGGAGGGTGGGCGCGCGGGGGGCTGGTGAGGCGTGGGAGGGGCGGGGCGGGAGGAGAGCCTCACTTTCTGTGCTTCTCCTCTTTGTCACTGCTTTTGGCGTTGTTGTCCGTGTGGCTGTTGGGGTTGTTGCTGAGGTACATTTTGTCCATGGCCTTGAGGGCCTCGGTGAGATAGTTCTGCAGGGCCGTGACCGCGGCACACACCGCGGGGCTGCCGAAGCCGTGGGAGATGAGGTTGAAGTGGGTCAAGCAGCTCTGGATGCCGGGCTCCAGGATGGGGTTGGGCCGTGAGTTCCCCAGGGGAGATCGGTCCTGAGCCAGCAGGTCGGTGAACTCTGCATATCTGTCTGCAGCACAAGTGGAGCAGAGAGAGAGACATAAGGCTCCACTATGGGCAGCACTAGCAGCAAAGAGAAAACCTCCCTCCCTGCAGCTACCTCTGCCGGGATCCAGCCGGTACCTGACATGACCCAAGACCCCAGAGACAGACAGTGTGGCCACATGTTGGGAGATCCAGCCACCTTTCAGTGACCACTAAACCATCTCTCTTTACTTCCTACCTTCACAAATGACTCTCTCTCTCTTTCCTCTCAGATATGGTAAACTTTTATTCCCACCTTTCTCCCTCACACAAAACATCCTAGACATAGGAAACCATTTCACACATTGGAAGAGAAAGAAAGGAGTCACGCAGACCGGAAGTCAGAAACAGTAGCATCTTGCGAACATTATGCTGCAGCCATCAGCCTTCCTATTCAAAATGTCATAAAGACCCTCTTCCCTGCTCCTCTAGAGAGACCTCAGCAGCAGTTTGTAGAATGAAGTCCACACTCGTTCACCTTCAAATCAAATTCAGGTCAATGTGGACAGAGAGACAAAACTTTACTTGGGATTATTTTGCCTTTAAAAAACAAGAATAACAAAAAAACAAAACGGGCCCACACAAGCCCTGTTACTTGGAGATAATTCAAAGTAGTGTTTGGGAAGAAGAAACAGACATTTCGATTTCCCATTCCTCCTCTTTCCCCACATAGCTCAAAATAAAAATACTGCAGGGAAATTGTGGAGATGGGTGTGCTTACGAAGCCTGGGGAAAGAGAAAGTTGAAATTTCGCAGAGGTAGATGAGGCCTGCACTCAGGAAGCTCTGTCTCTGAATCTGGGAAGCAAGGGCTAGCTGGGGCCTTCCAGGGGCAGCAGCAGCCTGGCCTGGGGGGCTGGGGAGGGGGATGAATGAGGAGCCTGGGCTGGCTCCCTTCTCCAAGGCCAGCTGATGTCCCCAGGCCAGAAACAGGGTCCCACCCAAGGCCTCAGCTTCTGCCCTCTGCTTCCATGCCCTCCTGTGACATCAACTTTGATAATTAAGGGCTTCCAAACAAGCCTTTTAATTTCCAGAAAACACATCAAAACAGTCATTTTCTTTTCACACATCACCTGGAGAAGCCTATTCAGCCCAGGCACCGATGGGAATATAACTTGGGCCATTTTGAAATCTATTTGACTTCTCGCCTGTGGGCTAAAACTTATGTGGGGTGTGGGTCTCTCTCTCTCTCTCTCTCTCTCTGTCTGTGTGTGTGTGTGTGTGTGTCACTTTCGAGAAGGGGTTGTGAAAGGAAGGTAAGAAATGGAATAACAGATTAGGGTTGAAACTAGGACAGCTTCTGGCTTGCACATTTTGCAGGCCACTGTTTAATCTTTGCCCTTGGAGAACATATTGATAGGATACAAAAACTGATATAGGTAAGCCTGTTACCCCTTTGAGGATTTGATTCTGGTCTTTCTGAAACAACATAGTCACAAATCCACCCTTAACTTCAGTCAAACCCCTCCTACAACCCACTCCCATACACACTCATTAAAAAAAAAAAAAAATGAGTAAATGGGACAGATGAGAGGAAAAAGATGGGAGCGCCCAAGAATCCCACCTGTATTTCTTCCTTAACATAGACTATATATAAGATGGTGTTATAACTGCAACAAAGCTGATTAACACAAAAGGAAAACAAGGGAGAAGGAAGAGCAAAAACGATTTTTGTTTCTCTTTCTCTTGACAACGAGACACAGAGACCCCATAGAGGTAAATGCCTTACTTTGTAGCCAGGAGCATGTTTTTTCTTGTCACTTGCTCATTGGGATCGGAATGTTGTCGGTTGAGAAATTCAGCTACTGCTTTGGCAGGAAATTCGGTTTCGCACACGTACCCAAAGTCCCTGGCTAGGTGGACAGCTTCTCCTGGCAAGAGGGGAGAGGAGGGAGCCAGTGCGAGAGAATGAAGAGTGGGGATCCTAACTTCCTCCCCACTCCCAACTCCCTAATTCCCTTCACCCCAGATGTTGCAGGAAACACAAACTACTTGTTTTCTCATTTCAGGCATTTTATTTCNN | pathogenic | 105,761 |
Classify the chromosome 6 variant at position 10770199 affecting gene MAK (male germ cell associated kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Isolated_macular_dystrophy', 'Retinal_dystrophy'] | AATAATTAATATATAAAGGCCTTCAATATCTTACAAAAATATTTTTTAAAAGACCCACTCTTGATTTATAAGAGTAGATACCTAGGTAACAAAATAATTTGAAACATTATGATTTTCTGCCTTTATATTAAAAATATAAAATGTGGCCGGGTGCAGTGGTTCATGCCTGTAATCCCAGCACTTGTGGGAGGCTGAGGCAGGTGAATCATTTGAGGTCACGAGTTCAAGACCAGCCTGACCAACACAGTGAAACTGCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAATAAATAAAATTTTATATTTCATATAAATGAATGGCTCATAAGGCTGGCTTAAATATTTGAGGCCTTATAAAAATCACTGCTGTATATAAAATGTTTACTTATTTTGTTTCAGCGAAAAGATAATGAAGCAATTCTTTTCACAGATAAGGTAACTGTAGTACTATTTAAGCAGTTCTATTGCGGCAAGAAATAAAAAAATAAAGAAGTCCAGGCTTTATACATTTTTAGCTCCAATAGTGTGAACTTTAAAGACTGGCACATCTAATCAGGGGTTTTAATATAAGATAGTGGTTAGGATAGGCTGTGAGCACACTTTCAGAGTCAACTTTTAAATTAAACTACAGGCCGGGCATAGTGGTTCATGCCTATAATCCCAGAGTTTTGGGAGGCCAAGGTGGGAGGATTGCTTGCGCCCACGAGTCAAGATCCAGCTTGGGCAACATAGCAAGACCCTGTCCCTACAAAAAACATTTTTTTTAATTAGCTGGGCACGGTCGTGTGTGCCTGTAGTCCCATCTACTCAGAAGGCGGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGGCTGCAGTGAACCATGATTGCATCCCTGCACTCCAGCCTGGGTGACAGAGCAAGGCTTTTTCTCTATAAAAAAGAATTAAAATAAATAAATTAAACTACAATTAGGTATCTTATTAAAGTTCTAATGATTGGCTTTAATGTTTATTTTTGGTGCTTCACTAAGAATATCTATTTCAGATTCAAATGATTCGAAGACCATTCATGGTCAAATCTGATTGGCTTAAGTACAGAATCATCACCCTCCATTTCAAGTGTGTACCCCCACATGTGGCTGTCACATGCCACACCACTGGGGAGCAAGCTTACCTCAGTTAGGCATAACGCTGGAGGGTGGAGGGATAAACCCTTCCCCCTGAATACTATTGCAAAGCAAAAGGCAGGGTGTGAAAGTCCTGCCACCGCTAATTTCTACGCCCTAAGATGGAACTGTAGAGACACACCTCATGTTAACTCATTCATAAATAGAGTGTCAGCATTTATTAAGCTTTCACCCTGTGCCAGGTCCTGGGCAGAGGGCTCTGGAAAAGGCATTTTCTCACATCTCTCTGTGCAGCACAGCACACTCTTTGGAAGTGGATTAAGTTGGGTTTCTATCCCAGCTCCACTAGCTGTGTGACCTCAGGTAAGTTACTTCACCTACATTTCATCATCTGTAAAGAAGAGATCTAGCTACATCATCAGGTTATCATGAGGATTAAATGATATAATTCCAGTAAGCCCTTTACACTGTGCCTGGCAGAGAGTCACCACTTAATTAGTGGTAGCTCTTATAATTATTAGACCCTCAAATCCTCATTTTTGGAAGAAAAATAGGACATTTCGGTAAAAACAAAAAGAAATGCGTTAATGAGGTGAGGCTGACTAAAAGTCTTCGCTTGGGAAAAGTGACTGCATAAACTTAAAAAGGAAAATGTTCCTTTCTGCTAGGAATCTAGAAAACTGTATCTGAAGTTGTTCCTACCTGAAGCCGTTGCATTGAGAGGTGCTAAGTGGATCCTCTGGCCAGCTGACTGCACTTCTTTTTTGAGAAAGGAAGGAATATATCCTGACTGATTGTAAGTAGCATAACTTCCAAGATTTCCTAGTGACATATCATAAAGTTTCACAGTCAGAAGGTGAATATTTTAGGCACAGTAGAATAACATTGAATACTACCCCATTACTTCTAAATACTATTTTTCAGCATCTACTATGTTTTAGGCACTGAGCTGCACTTGTTACAGATATTCTTATTCCATCCATACAACAGCCCGCTTAGATCATATTAGTATCCATATCGTGTGGCTCTCCAATGTTGAGTAACTTGCCTAACTTCTCACAGTTAGTAAGAGACTGAGCTGGGGTCTGAACTCAAGGCCCAGGGGTGTTCAGTTCACCCTGAACACGCCAGGCTTTCTCACGACCCCACTTCTTCACATGGGGGTGTATTTCCCACTGCGAAGCCCCTATCTCTGAAGTGCTCTCTGTGTCTGTCTTCATTCTGTAAAATGGTTGTAAGTGGACCTATTCTCGTAGGGTTGTTGTAGGGATTGATGAGACTCTTCAGAGCACGTGGCATAGAATCTGTACGCATTAAACGTCAGCTAGCATAATTGCCATCATTATCAACACCATCATCATCATCACTATTGGTGAATGCTCAATCTGGCGTTAGCATAGGGATGCATTGATGAGGAAAAATCTAAAGTCTGGAGACCAGTGAGGAAGTCACTGCTAAGAGCTGAAATGAGGGAGGATGAGGGTCTGAACCACAGCAGTGGCAGAGGGTGAAGAAGAAGGGAACTAAGCAGGTTCACGGGGTGGAGGTGGTAGGGAAAGAGGGAAATATAAACTCCTAAGTTTGCAGCTCAGGTGACTGGGGGGTGCGTTGTCCATGAATAGCAACATAGGAGGAGAATCAGGATTGGGGGAAAGACATGGTACCCAGAGGACATTCATGTTGTGGCAGGCAGAGGGCAAGTGGGCAGGCGTGGAGATTGGTGATGATCAGGGTGTGGTGGTTACAGAGTTGTGGGCTGAAGGAGCCAGCTCAGAGGCACTGCGAATGTGCAGAGACCTGGAGTAGACCCCCAAGGAACACCAGCATTAAGGGACAGGAGAGAAAAGGACCTCATGGAGGAAGAGAACAGGTAGAGAGGTGGATGGTAGGAGGAACAGGGTATGGAAATCCAAGAGAATACACACTGAGTGTGGAAAAAAGGAATGGGAGATGAGGCAGAGAGCTCGGATAGGACCAGCACCGCCCCTGGGATCTGGCCACTAGGATGTCAAGATCTAGCAGGAGCTGCTGCACTGGCAGGAAGCAGACTGAAGACAAACGACAACCAGAAGCAATAGGAGGAGCTAGCTCTGCAGGAAGGGAGACAGGTTTATCTCTAGAAGGCGAAATGGGGCTCTGATCACCCTCGTGGTTTCAAAGCACTGTTCAGTAAACAGTGTTTTCTCTATAGCGTTATCTGTTTACACGTCTCGACACTGGGCTCTGTGTCCGTTGTCTCTCACGGCATATCAGGCTTCAACAGGTGTCTGCTCTTGAAGCAACAAATGTCAAAGCGCAATATTATGTTATCAGCCCCTAAAGGGTTACATACAGTGAGCACATGCTCTCAGTCTATACATGTTTAACCCTACTGAATTTTGTGTAAGTTCAGCTGCCTACTTTAACCTTTTTCCCATCTCAGAAACTCATTCTGAAACACTAATCAGTTCTTTACTTCAGAAAAATTTTCGGAAGGAAATTCAAAGCAGTGATTGCATTCACTAGCAGCTTCAGTCATGTCTCTTGCTCTCATCCTCATCAGCAGAGCAAACACTTATTAAATGCTTAGCATGTGTTAAAATTCCAGGTAGGGTTATGTAAGAATACCTAAGGAAATTTCGTCCGTTTTATGGACGGGAAAGCTGGCTTAAACAACTTGTCCCAAACCACAAAAGCTGGTGAGTGACAAAATGGGATATATCAGACTCTAGGATTCATGCATTATGATGCTTCTTATTGGAGAAAGAAGTTGTTAGGGAAAAAACATGAACAGAAAATTAAGTCTTCTTAAATTATTTTGGCTTATTATTTGAAGTACCTTGTATGCTGTGAATTTTC | AATAATTAATATATAAAGGCCTTCAATATCTTACAAAAATATTTTTTAAAAGACCCACTCTTGATTTATAAGAGTAGATACCTAGGTAACAAAATAATTTGAAACATTATGATTTTCTGCCTTTATATTAAAAATATAAAATGTGGCCGGGTGCAGTGGTTCATGCCTGTAATCCCAGCACTTGTGGGAGGCTGAGGCAGGTGAATCATTTGAGGTCACGAGTTCAAGACCAGCCTGACCAACACAGTGAAACTGCGTCTCTACTAAAAATACAAAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTGCTTGGGAGGCTGAGGCAGGAGAATCGTTTGAACCCGGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCCATCTCAAAATAAATAAAATTTTATATTTCATATAAATGAATGGCTCATAAGGCTGGCTTAAATATTTGAGGCCTTATAAAAATCACTGCTGTATATAAAATGTTTACTTATTTTGTTTCAGCGAAAAGATAATGAAGCAATTCTTTTCACAGATAAGGTAACTGTAGTACTATTTAAGCAGTTCTATTGCGGCAAGAAATAAAAAAATAAAGAAGTCCAGGCTTTATACATTTTTAGCTCCAATAGTGTGAACTTTAAAGACTGGCACATCTAATCAGGGGTTTTAATATAAGATAGTGGTTAGGATAGGCTGTGAGCACACTTTCAGAGTCAACTTTTAAATTAAACTACAGGCCGGGCATAGTGGTTCATGCCTATAATCCCAGAGTTTTGGGAGGCCAAGGTGGGAGGATTGCTTGCGCCCACGAGTCAAGATCCAGCTTGGGCAACATAGCAAGACCCTGTCCCTACAAAAAACATTTTTTTTAATTAGCTGGGCACGGTCGTGTGTGCCTGTAGTCCCATCTACTCAGAAGGCGGAGGCAGGAGGATCACTTGAGCCCAGGAGTTCGAGGCTGCAGTGAACCATGATTGCATCCCTGCACTCCAGCCTGGGTGACAGAGCAAGGCTTTTTCTCTATAAAAAAGAATTAAAATAAATAAATTAAACTACAATTAGGTATCTTATTAAAGTTCTAATGATTGGCTTTAATGTTTATTTTTGGTGCTTCACTAAGAATATCTATTTCAGATTCAAATGATTCGAAGACCATTCATGGTCAAATCTGATTGGCTTAAGTACAGAATCATCACCCTCCATTTCAAGTGTGTACCCCCACATGTGGCTGTCACATGCCACACCACTGGGGAGCAAGCTTACCTCAGTTAGGCATAACGCTGGAGGGTGGAGGGATAAACCCTTCCCCCTGAATACTATTGCAAAGCAAAAGGCAGGGTGTGAAAGTCCTGCCACCGCTAATTTCTACGCCCTAAGATGGAACTGTAGAGACACACCTCATGTTAACTCATTCATAAATAGAGTGTCAGCATTTATTAAGCTTTCACCCTGTGCCAGGTCCTGGGCAGAGGGCTCTGGAAAAGGCATTTTCTCACATCTCTCTGTGCAGCACAGCACACTCTTTGGAAGTGGATTAAGTTGGGTTTCTATCCCAGCTCCACTAGCTGTGTGACCTCAGGTAAGTTACTTCACCTACATTTCATCATCTGTAAAGAAGAGATCTAGCTACATCATCAGGTTATCATGAGGATTAAATGATATAATTCCAGTAAGCCCTTTACACTGTGCCTGGCAGAGAGTCACCACTTAATTAGTGGTAGCTCTTATAATTATTAGACCCTCAAATCCTCATTTTTGGAAGAAAAATAGGACATTTCGGTAAAAACAAAAAGAAATGCGTTAATGAGGTGAGGCTGACTAAAAGTCTTCGCTTGGGAAAAGTGACTGCATAAACTTAAAAAGGAAAATGTTCCTTTCTGCTAGGAATCTAGAAAACTGTATCTGAAGTTGTTCCTACCTGAAGCCGTTGCATTGAGAGGTGCTAAGTGGATCCTCTGGCCAGCTGACTGCACTTCTTTTTTGAGAAAGGAAGGAATATATCCTGACTGTAAGTAGCATAACTTCCAAGATTTCCTAGTGACATATCATAAAGTTTCACAGTCAGAAGGTGAATATTTTAGGCACAGTAGAATAACATTGAATACTACCCCATTACTTCTAAATACTATTTTTCAGCATCTACTATGTTTTAGGCACTGAGCTGCACTTGTTACAGATATTCTTATTCCATCCATACAACAGCCCGCTTAGATCATATTAGTATCCATATCGTGTGGCTCTCCAATGTTGAGTAACTTGCCTAACTTCTCACAGTTAGTAAGAGACTGAGCTGGGGTCTGAACTCAAGGCCCAGGGGTGTTCAGTTCACCCTGAACACGCCAGGCTTTCTCACGACCCCACTTCTTCACATGGGGGTGTATTTCCCACTGCGAAGCCCCTATCTCTGAAGTGCTCTCTGTGTCTGTCTTCATTCTGTAAAATGGTTGTAAGTGGACCTATTCTCGTAGGGTTGTTGTAGGGATTGATGAGACTCTTCAGAGCACGTGGCATAGAATCTGTACGCATTAAACGTCAGCTAGCATAATTGCCATCATTATCAACACCATCATCATCATCACTATTGGTGAATGCTCAATCTGGCGTTAGCATAGGGATGCATTGATGAGGAAAAATCTAAAGTCTGGAGACCAGTGAGGAAGTCACTGCTAAGAGCTGAAATGAGGGAGGATGAGGGTCTGAACCACAGCAGTGGCAGAGGGTGAAGAAGAAGGGAACTAAGCAGGTTCACGGGGTGGAGGTGGTAGGGAAAGAGGGAAATATAAACTCCTAAGTTTGCAGCTCAGGTGACTGGGGGGTGCGTTGTCCATGAATAGCAACATAGGAGGAGAATCAGGATTGGGGGAAAGACATGGTACCCAGAGGACATTCATGTTGTGGCAGGCAGAGGGCAAGTGGGCAGGCGTGGAGATTGGTGATGATCAGGGTGTGGTGGTTACAGAGTTGTGGGCTGAAGGAGCCAGCTCAGAGGCACTGCGAATGTGCAGAGACCTGGAGTAGACCCCCAAGGAACACCAGCATTAAGGGACAGGAGAGAAAAGGACCTCATGGAGGAAGAGAACAGGTAGAGAGGTGGATGGTAGGAGGAACAGGGTATGGAAATCCAAGAGAATACACACTGAGTGTGGAAAAAAGGAATGGGAGATGAGGCAGAGAGCTCGGATAGGACCAGCACCGCCCCTGGGATCTGGCCACTAGGATGTCAAGATCTAGCAGGAGCTGCTGCACTGGCAGGAAGCAGACTGAAGACAAACGACAACCAGAAGCAATAGGAGGAGCTAGCTCTGCAGGAAGGGAGACAGGTTTATCTCTAGAAGGCGAAATGGGGCTCTGATCACCCTCGTGGTTTCAAAGCACTGTTCAGTAAACAGTGTTTTCTCTATAGCGTTATCTGTTTACACGTCTCGACACTGGGCTCTGTGTCCGTTGTCTCTCACGGCATATCAGGCTTCAACAGGTGTCTGCTCTTGAAGCAACAAATGTCAAAGCGCAATATTATGTTATCAGCCCCTAAAGGGTTACATACAGTGAGCACATGCTCTCAGTCTATACATGTTTAACCCTACTGAATTTTGTGTAAGTTCAGCTGCCTACTTTAACCTTTTTCCCATCTCAGAAACTCATTCTGAAACACTAATCAGTTCTTTACTTCAGAAAAATTTTCGGAAGGAAATTCAAAGCAGTGATTGCATTCACTAGCAGCTTCAGTCATGTCTCTTGCTCTCATCCTCATCAGCAGAGCAAACACTTATTAAATGCTTAGCATGTGTTAAAATTCCAGGTAGGGTTATGTAAGAATACCTAAGGAAATTTCGTCCGTTTTATGGACGGGAAAGCTGGCTTAAACAACTTGTCCCAAACCACAAAAGCTGGTGAGTGACAAAATGGGATATATCAGACTCTAGGATTCATGCATTATGATGCTTCTTATTGGAGAAAGAAGTTGTTAGGGAAAAAACATGAACAGAAAATTAAGTCTTCTTAAATTATTTTGGCTTATTATTTGAAGTACCTTGTATGCTGTGAATTTTCNNNN | pathogenic | 105,805 |
Variant at chromosome 6, position 10784521, gene MAK (male germ cell associated kinase): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic | CACCGTGCCTTCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCTAGCTGGATTCTTAGAACTGAAATTTCTATGTTTGCCTAAAAGGTACACAGGGAAGTGTGTTACAGATCCATCTTTTGCTGGCAATCCTGTCTCAACCTTTTCTCTTGTTTGCCATGCCCCATCTTCCCAAACAAGCTTCTGGGAAATGGAGACTGTGTCTTGCTTCAGGAGACTTAGATGTGAAAAGCAAATCTTCCTCAGTTAAACAGTGGCCCACTCGTGTTTAGAAAGTTATAAATGACCATGCCCACAAAAACACAAAAGAAAAAGATCATCTTCTCCCTCACTGGATTAAAGATGTATCTGTGTAGATACAGGACGATTTAAAAATGGATTATCTTTTAGATTAAATTGAATTGAAACATTTCCTTTTTATTTGGATTTAGAGGAGAAAATGCTATTTGCAGGCACATGATAAACTCCCCACTGTCTGTCCAGATCTTTCTCCCAAGCTCCAGATTCATATACCCAGGCGCCCATTAGATGGATCAATTCAGATGTTTAACAGGCATCCCGCACTCAGCTCTCCATTCTCTACTTCCACAATCTTCTCCTCTTCTAATCTTCCCTTTCTCAGCTAAAGTCACCACCGTTCACCCAGTTCCCAAGTCAAAACCTCAGATGCTGCCACTAATTCTTTCCACCAATCTACCCACAAGTCCTATTGGTTCCAGTACCAAAACATGTCTAGGTTTTGCCCACTTGTACCTCTGCCACTTCCACTCTGGAACCAGCCATTTACATTACCCCACCCCATCCGGACATAAGCAGTGGCCTCTTAGCCAGTGTCTTTGCCTCTCTTGAGTTCCCAGCATGCTCTTCCGAGCAGGCAGAATCTTTTAAAAATATACACCAGATTGGCTGGGCACAGTGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACACCATCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCTCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAATCTGTCTCAAAAAAAACAAAAAAACAAACAAACAAAAAAATGTACACCAGATCATTTAGGAAAGAGTATTTGAAAATCTACATTTTATAAAAAGTTGTAATGGGGGCATAGAATTGGCTTAATAAAATTTAGGATTTACTGAATGCATAGCTTTGGTGGGGGGTGGGGGTTGGTGTTTTCTGGAAGCATATTCATCATCTTGATTTTTGCTCCTAAGCATTTCTTGAGCAGAATTCTACTAGTGGTAGAAACAGGAGGTCCAGAAAAGTCCTTGGCGACAGACTGAGCTACCAAAGAGCTCTGTGATTAGATTTTTTGCTTCACTGCTGCCCTTTCTTTGGAGATTCCAAGACACTTGAACCTGACCTATCTATACTCTAGTTAGCAGCAAACATTTTCTTTGCTCTACTTACCTGGAAGATATCTTGATTGTTTCAAGTAGTACTGTTTAGAGGTTGGAGCAGTTGACAATTCGGAATCAGATTTTAGGGAAGTAACAGCAGGTAAGCTCTTGTTTTCCCCTGTCGAGTGGTTGGAGCCTGAGGGTACTGGCTCTGGAAGCCTTGAAAGCCAATGAAAGGTAGCATTACAGCACGAACAACGAGAGGATCTCGCCCACCCTCTGCACATCTCGCCCACCCTCTGCACATCTTCCTAAGCCAGTCAATCTGACCTCACTTAAATGGTTTCCATCAGTCTTTTGGCTAAGTGACAACTTCCCCTCCACCCGCGTAGATATTGGGTCGTGCACAGACTCATTTCTGATACCAGTATGTGACAGGAACCTTTATAACTGAGCAGCAATTTACTTGTGTGTAACATGTTTCTATCTGTCCTGCAACGGCTGCAGTTGGATTCATAACGTGGGAAACTGGTGTGCTGAGAGGGAAATAACAGCCATCTTCACCTGTTGACTAAAATAATTTACAATCAATGAGGTTGTTTGGGGCATGGTTTGGATGGCCTAAAAAACTGAAATGGGGAAAGAAGTGCTAGAAAAGCTCCCGTATACAATTTCCCGTCACCCTAGTGTCAGGCACAGAAAATAGGTATTTGTGGAGACATGCCTGTGTCTCAGCCAGAACAGACTTGTGCAGTGGCTAAGCACCTCGCTAGCTGTTTAGTGGTGTTTGTTAGTATTAAGACTGACTCTCTGCCTGTTGGTCCCTAACTCCCACAGTCCTGTTTCTGTGTACGGACTGAGGACTTTCTGCTTCGAGGCTTAGTTCTGTCTCATTCCCGAGGCCTGTCCCTGAGGCCTGTTTGACCAGGCAGCAGTGCGTGAGGCGGCCATTGCTTTGTGTTGCTGCCCATCCCTCTGTGTGCTGTAATGAGCCCTCCACGACCAACCTTCTCCCCACCACCCTCCGACTGGGCTCCTTCTTTGCTGGGGCCTGAATATACTGCCCAATTTCCATCACTTGTTAACTCCAAGCATCCATGGTTTCCACCTAGAAATTCATGCTACCAAACCCTACTCACCAAGTTGGCTCCCTTGGAAATGGATACTCACTTGGGTGGCCCTTTGAACTGCTGGCCACCTGCTTGGGGGCAGTTCTAGGCACAGGTGCGTCTGCTTCAATGGGAACAGTCCCGCCATTTCTGGCAACTTTCCCTTCCCCTGAGCCCACTGCTGTTATATCACTAACTGAAATTCTACCCATTCCCAAAACTACTCACTCTAAAAAGACTTTTCTGTCCTCATCAGAGGGATCTCTGCCCATAGACAGAACTCCCAGAGCTCCTTGCAGCTGTCACTAGTGGCACTAAATGCACACACTTGTCATGTGTTATAGTCCTCTGGAGGTCTTATTTCTGTTGCCATATATTTGATGAGTTGAAGAGAGGCTTAATTCCAACTAGGTATTTAGTAAACATCTACTGAATATAAATACAAGTATAAATCTAAATATAAATATCTTGCTTTTTGTTCACTTTTAAGAAGACAACCAGGCTGGGTGCAGTGGCTCACGCCTGTAATTCTAGCACTTTGAGAGGCAAAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCAGCCTGGGCGACAAGAGCAAAGCTCCATCTCAATCATAATAATAATTTAAAAAATAAGACAACCATTAAATAAAAGGTATACATGTTAGTATTTGGTACTCTGTATTCTTTATGGGGAGGCCCTGGCTGCCTGAGAGACCAAGCAGGGGATGGCAGGGTCTGTTCAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCAC | CACCGTGCCTTCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCTAGCTGGATTCTTAGAACTGAAATTTCTATGTTTGCCTAAAAGGTACACAGGGAAGTGTGTTACAGATCCATCTTTTGCTGGCAATCCTGTCTCAACCTTTTCTCTTGTTTGCCATGCCCCATCTTCCCAAACAAGCTTCTGGGAAATGGAGACTGTGTCTTGCTTCAGGAGACTTAGATGTGAAAAGCAAATCTTCCTCAGTTAAACAGTGGCCCACTCGTGTTTAGAAAGTTATAAATGACCATGCCCACAAAAACACAAAAGAAAAAGATCATCTTCTCCCTCACTGGATTAAAGATGTATCTGTGTAGATACAGGACGATTTAAAAATGGATTATCTTTTAGATTAAATTGAATTGAAACATTTCCTTTTTATTTGGATTTAGAGGAGAAAATGCTATTTGCAGGCACATGATAAACTCCCCACTGTCTGTCCAGATCTTTCTCCCAAGCTCCAGATTCATATACCCAGGCGCCCATTAGATGGATCAATTCAGATGTTTAACAGGCATCCCGCACTCAGCTCTCCATTCTCTACTTCCACAATCTTCTCCTCTTCTAATCTTCCCTTTCTCAGCTAAAGTCACCACCGTTCACCCAGTTCCCAAGTCAAAACCTCAGATGCTGCCACTAATTCTTTCCACCAATCTACCCACAAGTCCTATTGGTTCCAGTACCAAAACATGTCTAGGTTTTGCCCACTTGTACCTCTGCCACTTCCACTCTGGAACCAGCCATTTACATTACCCCACCCCATCCGGACATAAGCAGTGGCCTCTTAGCCAGTGTCTTTGCCTCTCTTGAGTTCCCAGCATGCTCTTCCGAGCAGGCAGAATCTTTTAAAAATATACACCAGATTGGCTGGGCACAGTGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACACCATCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCTCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAATCTGTCTCAAAAAAAACAAAAAAACAAACAAACAAAAAAATGTACACCAGATCATTTAGGAAAGAGTATTTGAAAATCTACATTTTATAAAAAGTTGTAATGGGGGCATAGAATTGGCTTAATAAAATTTAGGATTTACTGAATGCATAGCTTTGGTGGGGGGTGGGGGTTGGTGTTTTCTGGAAGCATATTCATCATCTTGATTTTTGCTCCTAAGCATTTCTTGAGCAGAATTCTACTAGTGGTAGAAACAGGAGGTCCAGAAAAGTCCTTGGCGACAGACTGAGCTACCAAAGAGCTCTGTGATTAGATTTTTTGCTTCACTGCTGCCCTTTCTTTGGAGATTCCAAGACACTTGAACCTGACCTATCTATACTCTAGTTAGCAGCAAACATTTTCTTTGCTCTACTTACCTGGAAGATATCTTGATTGTTTCAAGTAGTACTGTTTAGAGGTTGGAGCAGTTGACAATTCGGAATCAGATTTTAGGGAAGTAACAGCAGGTAAGCTCGTTTTCCCCTGTCGAGTGGTTGGAGCCTGAGGGTACTGGCTCTGGAAGCCTTGAAAGCCAATGAAAGGTAGCATTACAGCACGAACAACGAGAGGATCTCGCCCACCCTCTGCACATCTCGCCCACCCTCTGCACATCTTCCTAAGCCAGTCAATCTGACCTCACTTAAATGGTTTCCATCAGTCTTTTGGCTAAGTGACAACTTCCCCTCCACCCGCGTAGATATTGGGTCGTGCACAGACTCATTTCTGATACCAGTATGTGACAGGAACCTTTATAACTGAGCAGCAATTTACTTGTGTGTAACATGTTTCTATCTGTCCTGCAACGGCTGCAGTTGGATTCATAACGTGGGAAACTGGTGTGCTGAGAGGGAAATAACAGCCATCTTCACCTGTTGACTAAAATAATTTACAATCAATGAGGTTGTTTGGGGCATGGTTTGGATGGCCTAAAAAACTGAAATGGGGAAAGAAGTGCTAGAAAAGCTCCCGTATACAATTTCCCGTCACCCTAGTGTCAGGCACAGAAAATAGGTATTTGTGGAGACATGCCTGTGTCTCAGCCAGAACAGACTTGTGCAGTGGCTAAGCACCTCGCTAGCTGTTTAGTGGTGTTTGTTAGTATTAAGACTGACTCTCTGCCTGTTGGTCCCTAACTCCCACAGTCCTGTTTCTGTGTACGGACTGAGGACTTTCTGCTTCGAGGCTTAGTTCTGTCTCATTCCCGAGGCCTGTCCCTGAGGCCTGTTTGACCAGGCAGCAGTGCGTGAGGCGGCCATTGCTTTGTGTTGCTGCCCATCCCTCTGTGTGCTGTAATGAGCCCTCCACGACCAACCTTCTCCCCACCACCCTCCGACTGGGCTCCTTCTTTGCTGGGGCCTGAATATACTGCCCAATTTCCATCACTTGTTAACTCCAAGCATCCATGGTTTCCACCTAGAAATTCATGCTACCAAACCCTACTCACCAAGTTGGCTCCCTTGGAAATGGATACTCACTTGGGTGGCCCTTTGAACTGCTGGCCACCTGCTTGGGGGCAGTTCTAGGCACAGGTGCGTCTGCTTCAATGGGAACAGTCCCGCCATTTCTGGCAACTTTCCCTTCCCCTGAGCCCACTGCTGTTATATCACTAACTGAAATTCTACCCATTCCCAAAACTACTCACTCTAAAAAGACTTTTCTGTCCTCATCAGAGGGATCTCTGCCCATAGACAGAACTCCCAGAGCTCCTTGCAGCTGTCACTAGTGGCACTAAATGCACACACTTGTCATGTGTTATAGTCCTCTGGAGGTCTTATTTCTGTTGCCATATATTTGATGAGTTGAAGAGAGGCTTAATTCCAACTAGGTATTTAGTAAACATCTACTGAATATAAATACAAGTATAAATCTAAATATAAATATCTTGCTTTTTGTTCACTTTTAAGAAGACAACCAGGCTGGGTGCAGTGGCTCACGCCTGTAATTCTAGCACTTTGAGAGGCAAAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCAGCCTGGGCGACAAGAGCAAAGCTCCATCTCAATCATAATAATAATTTAAAAAATAAGACAACCATTAAATAAAAGGTATACATGTTAGTATTTGGTACTCTGTATTCTTTATGGGGAGGCCCTGGCTGCCTGAGAGACCAAGCAGGGGATGGCAGGGTCTGTTCAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACNN | pathogenic | 105,811 |
Classify the chromosome 6 variant at position 10784531 affecting gene MAK (male germ cell associated kinase) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa_62'] | TCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCTAGCTGGATTCTTAGAACTGAAATTTCTATGTTTGCCTAAAAGGTACACAGGGAAGTGTGTTACAGATCCATCTTTTGCTGGCAATCCTGTCTCAACCTTTTCTCTTGTTTGCCATGCCCCATCTTCCCAAACAAGCTTCTGGGAAATGGAGACTGTGTCTTGCTTCAGGAGACTTAGATGTGAAAAGCAAATCTTCCTCAGTTAAACAGTGGCCCACTCGTGTTTAGAAAGTTATAAATGACCATGCCCACAAAAACACAAAAGAAAAAGATCATCTTCTCCCTCACTGGATTAAAGATGTATCTGTGTAGATACAGGACGATTTAAAAATGGATTATCTTTTAGATTAAATTGAATTGAAACATTTCCTTTTTATTTGGATTTAGAGGAGAAAATGCTATTTGCAGGCACATGATAAACTCCCCACTGTCTGTCCAGATCTTTCTCCCAAGCTCCAGATTCATATACCCAGGCGCCCATTAGATGGATCAATTCAGATGTTTAACAGGCATCCCGCACTCAGCTCTCCATTCTCTACTTCCACAATCTTCTCCTCTTCTAATCTTCCCTTTCTCAGCTAAAGTCACCACCGTTCACCCAGTTCCCAAGTCAAAACCTCAGATGCTGCCACTAATTCTTTCCACCAATCTACCCACAAGTCCTATTGGTTCCAGTACCAAAACATGTCTAGGTTTTGCCCACTTGTACCTCTGCCACTTCCACTCTGGAACCAGCCATTTACATTACCCCACCCCATCCGGACATAAGCAGTGGCCTCTTAGCCAGTGTCTTTGCCTCTCTTGAGTTCCCAGCATGCTCTTCCGAGCAGGCAGAATCTTTTAAAAATATACACCAGATTGGCTGGGCACAGTGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACACCATCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCTCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAATCTGTCTCAAAAAAAACAAAAAAACAAACAAACAAAAAAATGTACACCAGATCATTTAGGAAAGAGTATTTGAAAATCTACATTTTATAAAAAGTTGTAATGGGGGCATAGAATTGGCTTAATAAAATTTAGGATTTACTGAATGCATAGCTTTGGTGGGGGGTGGGGGTTGGTGTTTTCTGGAAGCATATTCATCATCTTGATTTTTGCTCCTAAGCATTTCTTGAGCAGAATTCTACTAGTGGTAGAAACAGGAGGTCCAGAAAAGTCCTTGGCGACAGACTGAGCTACCAAAGAGCTCTGTGATTAGATTTTTTGCTTCACTGCTGCCCTTTCTTTGGAGATTCCAAGACACTTGAACCTGACCTATCTATACTCTAGTTAGCAGCAAACATTTTCTTTGCTCTACTTACCTGGAAGATATCTTGATTGTTTCAAGTAGTACTGTTTAGAGGTTGGAGCAGTTGACAATTCGGAATCAGATTTTAGGGAAGTAACAGCAGGTAAGCTCTTGTTTTCCCCTGTCGAGTGGTTGGAGCCTGAGGGTACTGGCTCTGGAAGCCTTGAAAGCCAATGAAAGGTAGCATTACAGCACGAACAACGAGAGGATCTCGCCCACCCTCTGCACATCTCGCCCACCCTCTGCACATCTTCCTAAGCCAGTCAATCTGACCTCACTTAAATGGTTTCCATCAGTCTTTTGGCTAAGTGACAACTTCCCCTCCACCCGCGTAGATATTGGGTCGTGCACAGACTCATTTCTGATACCAGTATGTGACAGGAACCTTTATAACTGAGCAGCAATTTACTTGTGTGTAACATGTTTCTATCTGTCCTGCAACGGCTGCAGTTGGATTCATAACGTGGGAAACTGGTGTGCTGAGAGGGAAATAACAGCCATCTTCACCTGTTGACTAAAATAATTTACAATCAATGAGGTTGTTTGGGGCATGGTTTGGATGGCCTAAAAAACTGAAATGGGGAAAGAAGTGCTAGAAAAGCTCCCGTATACAATTTCCCGTCACCCTAGTGTCAGGCACAGAAAATAGGTATTTGTGGAGACATGCCTGTGTCTCAGCCAGAACAGACTTGTGCAGTGGCTAAGCACCTCGCTAGCTGTTTAGTGGTGTTTGTTAGTATTAAGACTGACTCTCTGCCTGTTGGTCCCTAACTCCCACAGTCCTGTTTCTGTGTACGGACTGAGGACTTTCTGCTTCGAGGCTTAGTTCTGTCTCATTCCCGAGGCCTGTCCCTGAGGCCTGTTTGACCAGGCAGCAGTGCGTGAGGCGGCCATTGCTTTGTGTTGCTGCCCATCCCTCTGTGTGCTGTAATGAGCCCTCCACGACCAACCTTCTCCCCACCACCCTCCGACTGGGCTCCTTCTTTGCTGGGGCCTGAATATACTGCCCAATTTCCATCACTTGTTAACTCCAAGCATCCATGGTTTCCACCTAGAAATTCATGCTACCAAACCCTACTCACCAAGTTGGCTCCCTTGGAAATGGATACTCACTTGGGTGGCCCTTTGAACTGCTGGCCACCTGCTTGGGGGCAGTTCTAGGCACAGGTGCGTCTGCTTCAATGGGAACAGTCCCGCCATTTCTGGCAACTTTCCCTTCCCCTGAGCCCACTGCTGTTATATCACTAACTGAAATTCTACCCATTCCCAAAACTACTCACTCTAAAAAGACTTTTCTGTCCTCATCAGAGGGATCTCTGCCCATAGACAGAACTCCCAGAGCTCCTTGCAGCTGTCACTAGTGGCACTAAATGCACACACTTGTCATGTGTTATAGTCCTCTGGAGGTCTTATTTCTGTTGCCATATATTTGATGAGTTGAAGAGAGGCTTAATTCCAACTAGGTATTTAGTAAACATCTACTGAATATAAATACAAGTATAAATCTAAATATAAATATCTTGCTTTTTGTTCACTTTTAAGAAGACAACCAGGCTGGGTGCAGTGGCTCACGCCTGTAATTCTAGCACTTTGAGAGGCAAAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCAGCCTGGGCGACAAGAGCAAAGCTCCATCTCAATCATAATAATAATTTAAAAAATAAGACAACCATTAAATAAAAGGTATACATGTTAGTATTTGGTACTCTGTATTCTTTATGGGGAGGCCCTGGCTGCCTGAGAGACCAAGCAGGGGATGGCAGGGTCTGTTCAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCA | TCTGTTTTCTCTCCCATTCATCTCTAAACCCTCTACTTGCTTTCATTTTTTTTCTTTTCCCCAATTACTAACAGCAAGAGAGGGTCCCAACTGGATTTTTTTTTTTTTTTTTTTTTGACACAGTCTTGCTCTGTTGCCCATGCTGGAGTGCAGCGGTGCCATCTCGGCTCACTGCAACCTCCACCTCCTGGGTCAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCACCACCACGTCCAGCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGCTGGTCTCAAACTCCTGAACTCAGGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCCTAGCTGGATTCTTAGAACTGAAATTTCTATGTTTGCCTAAAAGGTACACAGGGAAGTGTGTTACAGATCCATCTTTTGCTGGCAATCCTGTCTCAACCTTTTCTCTTGTTTGCCATGCCCCATCTTCCCAAACAAGCTTCTGGGAAATGGAGACTGTGTCTTGCTTCAGGAGACTTAGATGTGAAAAGCAAATCTTCCTCAGTTAAACAGTGGCCCACTCGTGTTTAGAAAGTTATAAATGACCATGCCCACAAAAACACAAAAGAAAAAGATCATCTTCTCCCTCACTGGATTAAAGATGTATCTGTGTAGATACAGGACGATTTAAAAATGGATTATCTTTTAGATTAAATTGAATTGAAACATTTCCTTTTTATTTGGATTTAGAGGAGAAAATGCTATTTGCAGGCACATGATAAACTCCCCACTGTCTGTCCAGATCTTTCTCCCAAGCTCCAGATTCATATACCCAGGCGCCCATTAGATGGATCAATTCAGATGTTTAACAGGCATCCCGCACTCAGCTCTCCATTCTCTACTTCCACAATCTTCTCCTCTTCTAATCTTCCCTTTCTCAGCTAAAGTCACCACCGTTCACCCAGTTCCCAAGTCAAAACCTCAGATGCTGCCACTAATTCTTTCCACCAATCTACCCACAAGTCCTATTGGTTCCAGTACCAAAACATGTCTAGGTTTTGCCCACTTGTACCTCTGCCACTTCCACTCTGGAACCAGCCATTTACATTACCCCACCCCATCCGGACATAAGCAGTGGCCTCTTAGCCAGTGTCTTTGCCTCTCTTGAGTTCCCAGCATGCTCTTCCGAGCAGGCAGAATCTTTTAAAAATATACACCAGATTGGCTGGGCACAGTGGCTCACGCCTGTCATCTCAGCACTTTGGGAGGCCAAGGCGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCCGGCTAACACGGTGAAACACCATCTCTACTAAAAATGCAAAAATTAGCCAGGCGTGGTGGCTCGCACCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGAATCTGTCTCAAAAAAAACAAAAAAACAAACAAACAAAAAAATGTACACCAGATCATTTAGGAAAGAGTATTTGAAAATCTACATTTTATAAAAAGTTGTAATGGGGGCATAGAATTGGCTTAATAAAATTTAGGATTTACTGAATGCATAGCTTTGGTGGGGGGTGGGGGTTGGTGTTTTCTGGAAGCATATTCATCATCTTGATTTTTGCTCCTAAGCATTTCTTGAGCAGAATTCTACTAGTGGTAGAAACAGGAGGTCCAGAAAAGTCCTTGGCGACAGACTGAGCTACCAAAGAGCTCTGTGATTAGATTTTTTGCTTCACTGCTGCCCTTTCTTTGGAGATTCCAAGACACTTGAACCTGACCTATCTATACTCTAGTTAGCAGCAAACATTTTCTTTGCTCTACTTACCTGGAAGATATCTTGATTGTTTCAAGTAGTACTGTTTAGAGGTTGGAGCAGTTGACAATTCGGAATCAGATTTTAGGGAAGTAACAGCAGGTAAGCTCTTGTTTTCCCGTCGAGTGGTTGGAGCCTGAGGGTACTGGCTCTGGAAGCCTTGAAAGCCAATGAAAGGTAGCATTACAGCACGAACAACGAGAGGATCTCGCCCACCCTCTGCACATCTCGCCCACCCTCTGCACATCTTCCTAAGCCAGTCAATCTGACCTCACTTAAATGGTTTCCATCAGTCTTTTGGCTAAGTGACAACTTCCCCTCCACCCGCGTAGATATTGGGTCGTGCACAGACTCATTTCTGATACCAGTATGTGACAGGAACCTTTATAACTGAGCAGCAATTTACTTGTGTGTAACATGTTTCTATCTGTCCTGCAACGGCTGCAGTTGGATTCATAACGTGGGAAACTGGTGTGCTGAGAGGGAAATAACAGCCATCTTCACCTGTTGACTAAAATAATTTACAATCAATGAGGTTGTTTGGGGCATGGTTTGGATGGCCTAAAAAACTGAAATGGGGAAAGAAGTGCTAGAAAAGCTCCCGTATACAATTTCCCGTCACCCTAGTGTCAGGCACAGAAAATAGGTATTTGTGGAGACATGCCTGTGTCTCAGCCAGAACAGACTTGTGCAGTGGCTAAGCACCTCGCTAGCTGTTTAGTGGTGTTTGTTAGTATTAAGACTGACTCTCTGCCTGTTGGTCCCTAACTCCCACAGTCCTGTTTCTGTGTACGGACTGAGGACTTTCTGCTTCGAGGCTTAGTTCTGTCTCATTCCCGAGGCCTGTCCCTGAGGCCTGTTTGACCAGGCAGCAGTGCGTGAGGCGGCCATTGCTTTGTGTTGCTGCCCATCCCTCTGTGTGCTGTAATGAGCCCTCCACGACCAACCTTCTCCCCACCACCCTCCGACTGGGCTCCTTCTTTGCTGGGGCCTGAATATACTGCCCAATTTCCATCACTTGTTAACTCCAAGCATCCATGGTTTCCACCTAGAAATTCATGCTACCAAACCCTACTCACCAAGTTGGCTCCCTTGGAAATGGATACTCACTTGGGTGGCCCTTTGAACTGCTGGCCACCTGCTTGGGGGCAGTTCTAGGCACAGGTGCGTCTGCTTCAATGGGAACAGTCCCGCCATTTCTGGCAACTTTCCCTTCCCCTGAGCCCACTGCTGTTATATCACTAACTGAAATTCTACCCATTCCCAAAACTACTCACTCTAAAAAGACTTTTCTGTCCTCATCAGAGGGATCTCTGCCCATAGACAGAACTCCCAGAGCTCCTTGCAGCTGTCACTAGTGGCACTAAATGCACACACTTGTCATGTGTTATAGTCCTCTGGAGGTCTTATTTCTGTTGCCATATATTTGATGAGTTGAAGAGAGGCTTAATTCCAACTAGGTATTTAGTAAACATCTACTGAATATAAATACAAGTATAAATCTAAATATAAATATCTTGCTTTTTGTTCACTTTTAAGAAGACAACCAGGCTGGGTGCAGTGGCTCACGCCTGTAATTCTAGCACTTTGAGAGGCAAAGGCAGGTGGATCACCTGAGATCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGGCCACCTGTAATCCCAGCTACTTGGGAGGCTGAGACAGGAGGATCACTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGCACCACTGCACTCAGCCTGGGCGACAAGAGCAAAGCTCCATCTCAATCATAATAATAATTTAAAAAATAAGACAACCATTAAATAAAAGGTATACATGTTAGTATTTGGTACTCTGTATTCTTTATGGGGAGGCCCTGGCTGCCTGAGAGACCAAGCAGGGGATGGCAGGGTCTGTTCAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATGCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCACCACTCCACTAATTCACCAGTTCACCTCCTATTCANN | pathogenic | 105,812 |
Assess the variant on chromosome 6, position 10791696, impacting MAK (male germ cell associated kinase): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Retinitis_pigmentosa_62'] | GTGCTCTCAAAAATATCTTTTTTTTGTTTTGAGACGGAGTCTCACTCTCACTCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAAGCCAGTTTTCTGATTTGTCCCTTTATTTAGTAACCCTATGCCATGTAAGAGTTGAAATAACTGAGAGGTGTGACTTTCTTGCCTAGAGTGGAAGAGGACTTGAGTGGGCTTTTCCTCCAGTTCATGTATTTTTAGGAAAGAGTACCTATGGAATGTGAAGACCTGGAAACGGATTGCATAAGAGTTATCCAAGCAAAAAAAGAATTATCCAAGCATATGTACTCCTTAGAGATTCCTCGTGCTCCAAAGTGAAGACTTCCATACTATGTCATGCCAAATAGCTACTTGTATAAGTTTTCCTGACTCATAACACACTTGTTCTTTCTATTCTTCTGTTTCAAAGAGGAAAACAAAAAAAAAAGAAAGTATCTTTCCAAAATATTCACCAAAACTTAACCCATCCTAACTTCAAAGTCGAATAATGTACTAAGGATGACCTCACTTATAAAAAGTAAAGGAACTGCTAGAGATATTAAACTTCCAGAAAAGGCTCAGAAAATGATTGAAAAAAGTTTAGAATAGCGAGGAGGCAGTTAGTGAAATCTTAACACCATCAGAAGAAGCTGTTAACTTGGCACGTGGTGCTCTACTTCCTGCAACGAGGCATGTCAATTTCAAATGGGAATAATGATTGTCATTCACAAGAGCATCGTAAAAATGGAACAAGATCCCCTCTGATACGTTTTGGACATCTGTCCTCTCTAAATCTCATGTTGAAATGTAATCCCCAGTTTTGAGGTGGGGCCTGGCGGGAGGTGTTTGGACCATGGGAGCAGATCCCTCACAAATGGCTTGGTACTATCCTTGCGGTAACGAGTGAGTTCTCACTCTGAGTTCATGCAAGACTTGATCGTTTAAAAGAGTCTGGGACCTCCTCCCTCTCTCTCTTGCTCCCTCTCTTGCCATGTGACAGGCTGGATCCTCTGCCACCTTCTGCCATTATTCTAAGTTTCCAAAAGCCCTCACCAGAAGCACATGCTGGCACTATGCTTCCTGTACAACCTGCAGAACCATGGGCCAACACATTCTTTATAGCAATGTAAAAACGGACTGACACACTCTCTACACACACACACAGACACACACACCCCACTCATCTGTTAATACTGAGAACTGTTACTGTGAGAAGATTCTTACCTTTTCAGAAGTATGTGGAAAGATTTGTGTTTTGTGGAAGGCACCAATATTAAGCAAATTTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCACTTTGTTACCCAGGCTGGAATGCAATGGCACAATCTTGGCTCACTGCAACATTCACCTCCCAGGTTCAAGAAATTCTCATGTCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTACACCTGGCCTGTTAAGCAAACTTTTCTTCTTTTAGGGTCTACATGCATTTATATTTAATGAGTAAAATAAAGTTAATGCATGGCAAAAATATTTTTCTGAGGAATTTGAAATCTTACCGAAATGGAGAATCTTTTTTCCTTTTTTCTTTAAAAACACCCATGCTTGGCTTCTTGGAATGGGAGGCTCCGAAATCATAGTCCTCCAACTCTTCCCAGCTATCTCCAGACTTGAAGATAGTCTGACCCCAACGCCTCCTACCACTTTTATGACTCAGTGTGCCATTTGGCTTCTGTGGTGGAAAATCAGTCATCATAATCTTTAATCATGTACTGAATGCCTTTCATGCACAAGCTACTATCTATGTAAGACACTAACAGTCCCCATTCTCAAGGAGCGTTCCATACATGTAAGGGCATAACATATATACACATTTAAAAGCATGAACAAAAATGGGCGGTACATGCCAAAAATATGATAGGTGTTCAGAGGAGAGATCTCTGTGAACTAGGTTGGTGAGAGACTTGAATATTTAGGATCTGAGTTGACTCTTCATTGACAGGAAGGATCTGGAAACCTGAGACTTGGCTATGCTCTTTGGGCAAGTGACTTAACTTCTCAAAGCCTTAGTGTCCTCCTTAAGTGGGGACAGCCTTAATGAGAAGGACACTAAGGCTGGCATGTGCCAGCATCTTTTACTCTTCCCCCTCCTTGAATGCAGACACGACATCCAAAGGAACACCAGTCATCCTGTGGCCACAGGAATGAAAGCCACCTGCTCAGGGTGGTGGAGCGGGAAGCCAGCAGCAGCCTGCCTCCTCTGCAAGCTTCATGAGCTCCAGCTACCCACCACCCGATTTCTTGTTATCTGAGAACAACAATCCCTATTGTTTAAGCCACAGTGGTCGAGTTTTTGTCATAAGTCCCTGAATGTAATCCTAACGGAAACAGAGAGGGAAGTATGAGTCTGACTGTCACAGAATGGAGGCATCATTAACAGAAATAAGGAATGGGAAAGAAGTCCTGGCTTAGAGCACACAATGAATTGGTTTTATACAAATTTACAGAAAGTGGTTTGGGGGCACATAAACAGAAAAATCCAAAAGGCAACTCAAAACTAGGGAAGAGAGCATGGAAAATTTTCAGAAAATACACCTATGTTGGGTGCAGGGAGATTCTTAAAGAATGGACATGCTATTGCTTGAAGCTGACGGTATTACAGTGATAGTGATGGATGATAACAAAAAGCAGTATTTGCCAGCTTCTCTACACTATTACTTTCTCTGCCAGGCACAACAATCTCCAGAATAAAGAGAATAAAAAAAATGTTAAGCTCCAGATGAGTAGGGTTAATAAAAGGTTACCCTTAGCTGAGTTTGAGCCTCCCTTCTGTTGAATTGTATTTTAGGGTACTGATCCTGAACACTGCTGAACAATATCAGTGATATGCAAGAATCTGGTATGGCTGAGAAGACTGGAAAGGGGCAAATATAATACTTTTAATAAAGTAGAAGATTTATTTTTGCAAACTCCACATCAGTAAGTTTGGTAGAGGATGAGGGCAAAGATTCTAAAATCAATTATTAAAGGGGATGTTTGTGAGCACTAAGGAAAAACAGTGATAGCTCATATAGACCACACTTTTTCATAAAAGGCAAACAATGAATTCATTCAGTGTAGTGTATGTGGACTTCAGCCCAGTGGGTGAAGGCAGCAAAGGGGATCAGCACATAGTTGAAGAACTTGACCAACAGTACTGACAAATGGATCAACGTCAATCTAGAGAAAGGTTCTAGTAGCCTGCCCAAGATCTCACGGTCGTTCTATTCATCATGAAGATTCAGGAGCAAAACAGACAACTAAACAAATACACAGCTGGCAACAAGCTGGGCAGAATGGGTAAACTGAGAAGAAAAAATACAGATTCAAAAATAATTAGAAATTGAAGAGGTAAGAGATCTTGCAACTTTTTGAATCCTAGAGATGAAATACACAAGTCAGAGGTACAGAATATGCAATTTAGGAGAAGCATTTGTGAAAAAACAGGTATACTTAGAAATTTTAGTTAACACAGTACTTAATCCCAGCTCTGGAACTCACCTATATAAAAATGTGTGTGTGGCGGGGCTGGGGGCTAGGTTATTCTCTTTAACTTAGAGAATGCACACAGCGTCCCTCGCATATGCAT | GTGCTCTCAAAAATATCTTTTTTTTGTTTTGAGACGGAGTCTCACTCTCACTCAGGCTGGAGTGCAGTGGCACAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAAGCCAGTTTTCTGATTTGTCCCTTTATTTAGTAACCCTATGCCATGTAAGAGTTGAAATAACTGAGAGGTGTGACTTTCTTGCCTAGAGTGGAAGAGGACTTGAGTGGGCTTTTCCTCCAGTTCATGTATTTTTAGGAAAGAGTACCTATGGAATGTGAAGACCTGGAAACGGATTGCATAAGAGTTATCCAAGCAAAAAAAGAATTATCCAAGCATATGTACTCCTTAGAGATTCCTCGTGCTCCAAAGTGAAGACTTCCATACTATGTCATGCCAAATAGCTACTTGTATAAGTTTTCCTGACTCATAACACACTTGTTCTTTCTATTCTTCTGTTTCAAAGAGGAAAACAAAAAAAAAAGAAAGTATCTTTCCAAAATATTCACCAAAACTTAACCCATCCTAACTTCAAAGTCGAATAATGTACTAAGGATGACCTCACTTATAAAAAGTAAAGGAACTGCTAGAGATATTAAACTTCCAGAAAAGGCTCAGAAAATGATTGAAAAAAGTTTAGAATAGCGAGGAGGCAGTTAGTGAAATCTTAACACCATCAGAAGAAGCTGTTAACTTGGCACGTGGTGCTCTACTTCCTGCAACGAGGCATGTCAATTTCAAATGGGAATAATGATTGTCATTCACAAGAGCATCGTAAAAATGGAACAAGATCCCCTCTGATACGTTTTGGACATCTGTCCTCTCTAAATCTCATGTTGAAATGTAATCCCCAGTTTTGAGGTGGGGCCTGGCGGGAGGTGTTTGGACCATGGGAGCAGATCCCTCACAAATGGCTTGGTACTATCCTTGCGGTAACGAGTGAGTTCTCACTCTGAGTTCATGCAAGACTTGATCGTTTAAAAGAGTCTGGGACCTCCTCCCTCTCTCTCTTGCTCCCTCTCTTGCCATGTGACAGGCTGGATCCTCTGCCACCTTCTGCCATTATTCTAAGTTTCCAAAAGCCCTCACCAGAAGCACATGCTGGCACTATGCTTCCTGTACAACCTGCAGAACCATGGGCCAACACATTCTTTATAGCAATGTAAAAACGGACTGACACACTCTCTACACACACACACAGACACACACACCCCACTCATCTGTTAATACTGAGAACTGTTACTGTGAGAAGATTCTTACCTTTTCAGAAGTATGTGGAAAGATTTGTGTTTTGTGGAAGGCACCAATATTAAGCAAATTTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCACTTTGTTACCCAGGCTGGAATGCAATGGCACAATCTTGGCTCACTGCAACATTCACCTCCCAGGTTCAAGAAATTCTCATGTCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTACACCTGGCCTGTTAAGCAAACTTTTCTTCTTTTAGGGTCTACATGCATTTATATTTAATGAGTAAAATAAAGTTAATGCATGGCAAAAATATTTTTCTGAGGAATTTGAAATCTTACCGAAATGGAGAATCTTTTTTCCTTTTTTTCTTTAAAAACACCCATGCTTGGCTTCTTGGAATGGGAGGCTCCGAAATCATAGTCCTCCAACTCTTCCCAGCTATCTCCAGACTTGAAGATAGTCTGACCCCAACGCCTCCTACCACTTTTATGACTCAGTGTGCCATTTGGCTTCTGTGGTGGAAAATCAGTCATCATAATCTTTAATCATGTACTGAATGCCTTTCATGCACAAGCTACTATCTATGTAAGACACTAACAGTCCCCATTCTCAAGGAGCGTTCCATACATGTAAGGGCATAACATATATACACATTTAAAAGCATGAACAAAAATGGGCGGTACATGCCAAAAATATGATAGGTGTTCAGAGGAGAGATCTCTGTGAACTAGGTTGGTGAGAGACTTGAATATTTAGGATCTGAGTTGACTCTTCATTGACAGGAAGGATCTGGAAACCTGAGACTTGGCTATGCTCTTTGGGCAAGTGACTTAACTTCTCAAAGCCTTAGTGTCCTCCTTAAGTGGGGACAGCCTTAATGAGAAGGACACTAAGGCTGGCATGTGCCAGCATCTTTTACTCTTCCCCCTCCTTGAATGCAGACACGACATCCAAAGGAACACCAGTCATCCTGTGGCCACAGGAATGAAAGCCACCTGCTCAGGGTGGTGGAGCGGGAAGCCAGCAGCAGCCTGCCTCCTCTGCAAGCTTCATGAGCTCCAGCTACCCACCACCCGATTTCTTGTTATCTGAGAACAACAATCCCTATTGTTTAAGCCACAGTGGTCGAGTTTTTGTCATAAGTCCCTGAATGTAATCCTAACGGAAACAGAGAGGGAAGTATGAGTCTGACTGTCACAGAATGGAGGCATCATTAACAGAAATAAGGAATGGGAAAGAAGTCCTGGCTTAGAGCACACAATGAATTGGTTTTATACAAATTTACAGAAAGTGGTTTGGGGGCACATAAACAGAAAAATCCAAAAGGCAACTCAAAACTAGGGAAGAGAGCATGGAAAATTTTCAGAAAATACACCTATGTTGGGTGCAGGGAGATTCTTAAAGAATGGACATGCTATTGCTTGAAGCTGACGGTATTACAGTGATAGTGATGGATGATAACAAAAAGCAGTATTTGCCAGCTTCTCTACACTATTACTTTCTCTGCCAGGCACAACAATCTCCAGAATAAAGAGAATAAAAAAAATGTTAAGCTCCAGATGAGTAGGGTTAATAAAAGGTTACCCTTAGCTGAGTTTGAGCCTCCCTTCTGTTGAATTGTATTTTAGGGTACTGATCCTGAACACTGCTGAACAATATCAGTGATATGCAAGAATCTGGTATGGCTGAGAAGACTGGAAAGGGGCAAATATAATACTTTTAATAAAGTAGAAGATTTATTTTTGCAAACTCCACATCAGTAAGTTTGGTAGAGGATGAGGGCAAAGATTCTAAAATCAATTATTAAAGGGGATGTTTGTGAGCACTAAGGAAAAACAGTGATAGCTCATATAGACCACACTTTTTCATAAAAGGCAAACAATGAATTCATTCAGTGTAGTGTATGTGGACTTCAGCCCAGTGGGTGAAGGCAGCAAAGGGGATCAGCACATAGTTGAAGAACTTGACCAACAGTACTGACAAATGGATCAACGTCAATCTAGAGAAAGGTTCTAGTAGCCTGCCCAAGATCTCACGGTCGTTCTATTCATCATGAAGATTCAGGAGCAAAACAGACAACTAAACAAATACACAGCTGGCAACAAGCTGGGCAGAATGGGTAAACTGAGAAGAAAAAATACAGATTCAAAAATAATTAGAAATTGAAGAGGTAAGAGATCTTGCAACTTTTTGAATCCTAGAGATGAAATACACAAGTCAGAGGTACAGAATATGCAATTTAGGAGAAGCATTTGTGAAAAAACAGGTATACTTAGAAATTTTAGTTAACACAGTACTTAATCCCAGCTCTGGAACTCACCTATATAAAAATGTGTGTGTGGCGGGGCTGGGGGCTAGGTTATTCTCTTTAACTTAGAGAATGCACACAGCGTCCCTCGCATATGCA | pathogenic | 105,813 |
Variant at chromosome position 10791768, chromosome 6, gene MAK (male germ cell associated kinase): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Retinitis_pigmentosa_62'] | CAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAAGCCAGTTTTCTGATTTGTCCCTTTATTTAGTAACCCTATGCCATGTAAGAGTTGAAATAACTGAGAGGTGTGACTTTCTTGCCTAGAGTGGAAGAGGACTTGAGTGGGCTTTTCCTCCAGTTCATGTATTTTTAGGAAAGAGTACCTATGGAATGTGAAGACCTGGAAACGGATTGCATAAGAGTTATCCAAGCAAAAAAAGAATTATCCAAGCATATGTACTCCTTAGAGATTCCTCGTGCTCCAAAGTGAAGACTTCCATACTATGTCATGCCAAATAGCTACTTGTATAAGTTTTCCTGACTCATAACACACTTGTTCTTTCTATTCTTCTGTTTCAAAGAGGAAAACAAAAAAAAAAGAAAGTATCTTTCCAAAATATTCACCAAAACTTAACCCATCCTAACTTCAAAGTCGAATAATGTACTAAGGATGACCTCACTTATAAAAAGTAAAGGAACTGCTAGAGATATTAAACTTCCAGAAAAGGCTCAGAAAATGATTGAAAAAAGTTTAGAATAGCGAGGAGGCAGTTAGTGAAATCTTAACACCATCAGAAGAAGCTGTTAACTTGGCACGTGGTGCTCTACTTCCTGCAACGAGGCATGTCAATTTCAAATGGGAATAATGATTGTCATTCACAAGAGCATCGTAAAAATGGAACAAGATCCCCTCTGATACGTTTTGGACATCTGTCCTCTCTAAATCTCATGTTGAAATGTAATCCCCAGTTTTGAGGTGGGGCCTGGCGGGAGGTGTTTGGACCATGGGAGCAGATCCCTCACAAATGGCTTGGTACTATCCTTGCGGTAACGAGTGAGTTCTCACTCTGAGTTCATGCAAGACTTGATCGTTTAAAAGAGTCTGGGACCTCCTCCCTCTCTCTCTTGCTCCCTCTCTTGCCATGTGACAGGCTGGATCCTCTGCCACCTTCTGCCATTATTCTAAGTTTCCAAAAGCCCTCACCAGAAGCACATGCTGGCACTATGCTTCCTGTACAACCTGCAGAACCATGGGCCAACACATTCTTTATAGCAATGTAAAAACGGACTGACACACTCTCTACACACACACACAGACACACACACCCCACTCATCTGTTAATACTGAGAACTGTTACTGTGAGAAGATTCTTACCTTTTCAGAAGTATGTGGAAAGATTTGTGTTTTGTGGAAGGCACCAATATTAAGCAAATTTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCACTTTGTTACCCAGGCTGGAATGCAATGGCACAATCTTGGCTCACTGCAACATTCACCTCCCAGGTTCAAGAAATTCTCATGTCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTACACCTGGCCTGTTAAGCAAACTTTTCTTCTTTTAGGGTCTACATGCATTTATATTTAATGAGTAAAATAAAGTTAATGCATGGCAAAAATATTTTTCTGAGGAATTTGAAATCTTACCGAAATGGAGAATCTTTTTTCCTTTTTTCTTTAAAAACACCCATGCTTGGCTTCTTGGAATGGGAGGCTCCGAAATCATAGTCCTCCAACTCTTCCCAGCTATCTCCAGACTTGAAGATAGTCTGACCCCAACGCCTCCTACCACTTTTATGACTCAGTGTGCCATTTGGCTTCTGTGGTGGAAAATCAGTCATCATAATCTTTAATCATGTACTGAATGCCTTTCATGCACAAGCTACTATCTATGTAAGACACTAACAGTCCCCATTCTCAAGGAGCGTTCCATACATGTAAGGGCATAACATATATACACATTTAAAAGCATGAACAAAAATGGGCGGTACATGCCAAAAATATGATAGGTGTTCAGAGGAGAGATCTCTGTGAACTAGGTTGGTGAGAGACTTGAATATTTAGGATCTGAGTTGACTCTTCATTGACAGGAAGGATCTGGAAACCTGAGACTTGGCTATGCTCTTTGGGCAAGTGACTTAACTTCTCAAAGCCTTAGTGTCCTCCTTAAGTGGGGACAGCCTTAATGAGAAGGACACTAAGGCTGGCATGTGCCAGCATCTTTTACTCTTCCCCCTCCTTGAATGCAGACACGACATCCAAAGGAACACCAGTCATCCTGTGGCCACAGGAATGAAAGCCACCTGCTCAGGGTGGTGGAGCGGGAAGCCAGCAGCAGCCTGCCTCCTCTGCAAGCTTCATGAGCTCCAGCTACCCACCACCCGATTTCTTGTTATCTGAGAACAACAATCCCTATTGTTTAAGCCACAGTGGTCGAGTTTTTGTCATAAGTCCCTGAATGTAATCCTAACGGAAACAGAGAGGGAAGTATGAGTCTGACTGTCACAGAATGGAGGCATCATTAACAGAAATAAGGAATGGGAAAGAAGTCCTGGCTTAGAGCACACAATGAATTGGTTTTATACAAATTTACAGAAAGTGGTTTGGGGGCACATAAACAGAAAAATCCAAAAGGCAACTCAAAACTAGGGAAGAGAGCATGGAAAATTTTCAGAAAATACACCTATGTTGGGTGCAGGGAGATTCTTAAAGAATGGACATGCTATTGCTTGAAGCTGACGGTATTACAGTGATAGTGATGGATGATAACAAAAAGCAGTATTTGCCAGCTTCTCTACACTATTACTTTCTCTGCCAGGCACAACAATCTCCAGAATAAAGAGAATAAAAAAAATGTTAAGCTCCAGATGAGTAGGGTTAATAAAAGGTTACCCTTAGCTGAGTTTGAGCCTCCCTTCTGTTGAATTGTATTTTAGGGTACTGATCCTGAACACTGCTGAACAATATCAGTGATATGCAAGAATCTGGTATGGCTGAGAAGACTGGAAAGGGGCAAATATAATACTTTTAATAAAGTAGAAGATTTATTTTTGCAAACTCCACATCAGTAAGTTTGGTAGAGGATGAGGGCAAAGATTCTAAAATCAATTATTAAAGGGGATGTTTGTGAGCACTAAGGAAAAACAGTGATAGCTCATATAGACCACACTTTTTCATAAAAGGCAAACAATGAATTCATTCAGTGTAGTGTATGTGGACTTCAGCCCAGTGGGTGAAGGCAGCAAAGGGGATCAGCACATAGTTGAAGAACTTGACCAACAGTACTGACAAATGGATCAACGTCAATCTAGAGAAAGGTTCTAGTAGCCTGCCCAAGATCTCACGGTCGTTCTATTCATCATGAAGATTCAGGAGCAAAACAGACAACTAAACAAATACACAGCTGGCAACAAGCTGGGCAGAATGGGTAAACTGAGAAGAAAAAATACAGATTCAAAAATAATTAGAAATTGAAGAGGTAAGAGATCTTGCAACTTTTTGAATCCTAGAGATGAAATACACAAGTCAGAGGTACAGAATATGCAATTTAGGAGAAGCATTTGTGAAAAAACAGGTATACTTAGAAATTTTAGTTAACACAGTACTTAATCCCAGCTCTGGAACTCACCTATATAAAAATGTGTGTGTGGCGGGGCTGGGGGCTAGGTTATTCTCTTTAACTTAGAGAATGCACACAGCGTCCCTCGCATATGCATGGCACTTGGAAGCTACTCAATAAATATTAACTTCCTTTCCTTCCCTCACAATATGAGTCAACAATTGATGCA | CAATCTCGGCTCACCACAACCTCTGCCTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAAGCCAGTTTTCTGATTTGTCCCTTTATTTAGTAACCCTATGCCATGTAAGAGTTGAAATAACTGAGAGGTGTGACTTTCTTGCCTAGAGTGGAAGAGGACTTGAGTGGGCTTTTCCTCCAGTTCATGTATTTTTAGGAAAGAGTACCTATGGAATGTGAAGACCTGGAAACGGATTGCATAAGAGTTATCCAAGCAAAAAAAGAATTATCCAAGCATATGTACTCCTTAGAGATTCCTCGTGCTCCAAAGTGAAGACTTCCATACTATGTCATGCCAAATAGCTACTTGTATAAGTTTTCCTGACTCATAACACACTTGTTCTTTCTATTCTTCTGTTTCAAAGAGGAAAACAAAAAAAAAAGAAAGTATCTTTCCAAAATATTCACCAAAACTTAACCCATCCTAACTTCAAAGTCGAATAATGTACTAAGGATGACCTCACTTATAAAAAGTAAAGGAACTGCTAGAGATATTAAACTTCCAGAAAAGGCTCAGAAAATGATTGAAAAAAGTTTAGAATAGCGAGGAGGCAGTTAGTGAAATCTTAACACCATCAGAAGAAGCTGTTAACTTGGCACGTGGTGCTCTACTTCCTGCAACGAGGCATGTCAATTTCAAATGGGAATAATGATTGTCATTCACAAGAGCATCGTAAAAATGGAACAAGATCCCCTCTGATACGTTTTGGACATCTGTCCTCTCTAAATCTCATGTTGAAATGTAATCCCCAGTTTTGAGGTGGGGCCTGGCGGGAGGTGTTTGGACCATGGGAGCAGATCCCTCACAAATGGCTTGGTACTATCCTTGCGGTAACGAGTGAGTTCTCACTCTGAGTTCATGCAAGACTTGATCGTTTAAAAGAGTCTGGGACCTCCTCCCTCTCTCTCTTGCTCCCTCTCTTGCCATGTGACAGGCTGGATCCTCTGCCACCTTCTGCCATTATTCTAAGTTTCCAAAAGCCCTCACCAGAAGCACATGCTGGCACTATGCTTCCTGTACAACCTGCAGAACCATGGGCCAACACATTCTTTATAGCAATGTAAAAACGGACTGACACACTCTCTACACACACACACAGACACACACACCCCACTCATCTGTTAATACTGAGAACTGTTACTGTGAGAAGATTCTTACCTTTTCAGAAGTATGTGGAAAGATTTGTGTTTTGTGGAAGGCACCAATATTAAGCAAATTTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCACTTTGTTACCCAGGCTGGAATGCAATGGCACAATCTTGGCTCACTGCAACATTCACCTCCCAGGTTCAAGAAATTCTCATGTCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTACACCTGGCCTGTTAAGCAAACTTTTCTTCTTTTAGGGTCTACATGCATTTATATTTAATGAGTAAAATAAAGTTAATGCATGGCAAAAATATTTTTCTGAGGAATTTGAAATCTTACCGAAATGGAGAATCTTTTTTCCTTTTTTCTTTAAAAACACCCATGCTTGGCTTCTTGGAATGGGAGGCTCCGAAATCATAGTCCTCCAACTCTTCCAGCTATCTCCAGACTTGAAGATAGTCTGACCCCAACGCCTCCTACCACTTTTATGACTCAGTGTGCCATTTGGCTTCTGTGGTGGAAAATCAGTCATCATAATCTTTAATCATGTACTGAATGCCTTTCATGCACAAGCTACTATCTATGTAAGACACTAACAGTCCCCATTCTCAAGGAGCGTTCCATACATGTAAGGGCATAACATATATACACATTTAAAAGCATGAACAAAAATGGGCGGTACATGCCAAAAATATGATAGGTGTTCAGAGGAGAGATCTCTGTGAACTAGGTTGGTGAGAGACTTGAATATTTAGGATCTGAGTTGACTCTTCATTGACAGGAAGGATCTGGAAACCTGAGACTTGGCTATGCTCTTTGGGCAAGTGACTTAACTTCTCAAAGCCTTAGTGTCCTCCTTAAGTGGGGACAGCCTTAATGAGAAGGACACTAAGGCTGGCATGTGCCAGCATCTTTTACTCTTCCCCCTCCTTGAATGCAGACACGACATCCAAAGGAACACCAGTCATCCTGTGGCCACAGGAATGAAAGCCACCTGCTCAGGGTGGTGGAGCGGGAAGCCAGCAGCAGCCTGCCTCCTCTGCAAGCTTCATGAGCTCCAGCTACCCACCACCCGATTTCTTGTTATCTGAGAACAACAATCCCTATTGTTTAAGCCACAGTGGTCGAGTTTTTGTCATAAGTCCCTGAATGTAATCCTAACGGAAACAGAGAGGGAAGTATGAGTCTGACTGTCACAGAATGGAGGCATCATTAACAGAAATAAGGAATGGGAAAGAAGTCCTGGCTTAGAGCACACAATGAATTGGTTTTATACAAATTTACAGAAAGTGGTTTGGGGGCACATAAACAGAAAAATCCAAAAGGCAACTCAAAACTAGGGAAGAGAGCATGGAAAATTTTCAGAAAATACACCTATGTTGGGTGCAGGGAGATTCTTAAAGAATGGACATGCTATTGCTTGAAGCTGACGGTATTACAGTGATAGTGATGGATGATAACAAAAAGCAGTATTTGCCAGCTTCTCTACACTATTACTTTCTCTGCCAGGCACAACAATCTCCAGAATAAAGAGAATAAAAAAAATGTTAAGCTCCAGATGAGTAGGGTTAATAAAAGGTTACCCTTAGCTGAGTTTGAGCCTCCCTTCTGTTGAATTGTATTTTAGGGTACTGATCCTGAACACTGCTGAACAATATCAGTGATATGCAAGAATCTGGTATGGCTGAGAAGACTGGAAAGGGGCAAATATAATACTTTTAATAAAGTAGAAGATTTATTTTTGCAAACTCCACATCAGTAAGTTTGGTAGAGGATGAGGGCAAAGATTCTAAAATCAATTATTAAAGGGGATGTTTGTGAGCACTAAGGAAAAACAGTGATAGCTCATATAGACCACACTTTTTCATAAAAGGCAAACAATGAATTCATTCAGTGTAGTGTATGTGGACTTCAGCCCAGTGGGTGAAGGCAGCAAAGGGGATCAGCACATAGTTGAAGAACTTGACCAACAGTACTGACAAATGGATCAACGTCAATCTAGAGAAAGGTTCTAGTAGCCTGCCCAAGATCTCACGGTCGTTCTATTCATCATGAAGATTCAGGAGCAAAACAGACAACTAAACAAATACACAGCTGGCAACAAGCTGGGCAGAATGGGTAAACTGAGAAGAAAAAATACAGATTCAAAAATAATTAGAAATTGAAGAGGTAAGAGATCTTGCAACTTTTTGAATCCTAGAGATGAAATACACAAGTCAGAGGTACAGAATATGCAATTTAGGAGAAGCATTTGTGAAAAAACAGGTATACTTAGAAATTTTAGTTAACACAGTACTTAATCCCAGCTCTGGAACTCACCTATATAAAAATGTGTGTGTGGCGGGGCTGGGGGCTAGGTTATTCTCTTTAACTTAGAGAATGCACACAGCGTCCCTCGCATATGCATGGCACTTGGAAGCTACTCAATAAATATTAACTTCCTTTCCTTCCCTCACAATATGAGTCAACAATTGATGCAN | pathogenic | 105,814 |
Does the genetic variant at chromosome 6, position 10791794, impacting gene MAK (male germ cell associated kinase), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic | CTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAAGCCAGTTTTCTGATTTGTCCCTTTATTTAGTAACCCTATGCCATGTAAGAGTTGAAATAACTGAGAGGTGTGACTTTCTTGCCTAGAGTGGAAGAGGACTTGAGTGGGCTTTTCCTCCAGTTCATGTATTTTTAGGAAAGAGTACCTATGGAATGTGAAGACCTGGAAACGGATTGCATAAGAGTTATCCAAGCAAAAAAAGAATTATCCAAGCATATGTACTCCTTAGAGATTCCTCGTGCTCCAAAGTGAAGACTTCCATACTATGTCATGCCAAATAGCTACTTGTATAAGTTTTCCTGACTCATAACACACTTGTTCTTTCTATTCTTCTGTTTCAAAGAGGAAAACAAAAAAAAAAGAAAGTATCTTTCCAAAATATTCACCAAAACTTAACCCATCCTAACTTCAAAGTCGAATAATGTACTAAGGATGACCTCACTTATAAAAAGTAAAGGAACTGCTAGAGATATTAAACTTCCAGAAAAGGCTCAGAAAATGATTGAAAAAAGTTTAGAATAGCGAGGAGGCAGTTAGTGAAATCTTAACACCATCAGAAGAAGCTGTTAACTTGGCACGTGGTGCTCTACTTCCTGCAACGAGGCATGTCAATTTCAAATGGGAATAATGATTGTCATTCACAAGAGCATCGTAAAAATGGAACAAGATCCCCTCTGATACGTTTTGGACATCTGTCCTCTCTAAATCTCATGTTGAAATGTAATCCCCAGTTTTGAGGTGGGGCCTGGCGGGAGGTGTTTGGACCATGGGAGCAGATCCCTCACAAATGGCTTGGTACTATCCTTGCGGTAACGAGTGAGTTCTCACTCTGAGTTCATGCAAGACTTGATCGTTTAAAAGAGTCTGGGACCTCCTCCCTCTCTCTCTTGCTCCCTCTCTTGCCATGTGACAGGCTGGATCCTCTGCCACCTTCTGCCATTATTCTAAGTTTCCAAAAGCCCTCACCAGAAGCACATGCTGGCACTATGCTTCCTGTACAACCTGCAGAACCATGGGCCAACACATTCTTTATAGCAATGTAAAAACGGACTGACACACTCTCTACACACACACACAGACACACACACCCCACTCATCTGTTAATACTGAGAACTGTTACTGTGAGAAGATTCTTACCTTTTCAGAAGTATGTGGAAAGATTTGTGTTTTGTGGAAGGCACCAATATTAAGCAAATTTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCACTTTGTTACCCAGGCTGGAATGCAATGGCACAATCTTGGCTCACTGCAACATTCACCTCCCAGGTTCAAGAAATTCTCATGTCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTACACCTGGCCTGTTAAGCAAACTTTTCTTCTTTTAGGGTCTACATGCATTTATATTTAATGAGTAAAATAAAGTTAATGCATGGCAAAAATATTTTTCTGAGGAATTTGAAATCTTACCGAAATGGAGAATCTTTTTTCCTTTTTTCTTTAAAAACACCCATGCTTGGCTTCTTGGAATGGGAGGCTCCGAAATCATAGTCCTCCAACTCTTCCCAGCTATCTCCAGACTTGAAGATAGTCTGACCCCAACGCCTCCTACCACTTTTATGACTCAGTGTGCCATTTGGCTTCTGTGGTGGAAAATCAGTCATCATAATCTTTAATCATGTACTGAATGCCTTTCATGCACAAGCTACTATCTATGTAAGACACTAACAGTCCCCATTCTCAAGGAGCGTTCCATACATGTAAGGGCATAACATATATACACATTTAAAAGCATGAACAAAAATGGGCGGTACATGCCAAAAATATGATAGGTGTTCAGAGGAGAGATCTCTGTGAACTAGGTTGGTGAGAGACTTGAATATTTAGGATCTGAGTTGACTCTTCATTGACAGGAAGGATCTGGAAACCTGAGACTTGGCTATGCTCTTTGGGCAAGTGACTTAACTTCTCAAAGCCTTAGTGTCCTCCTTAAGTGGGGACAGCCTTAATGAGAAGGACACTAAGGCTGGCATGTGCCAGCATCTTTTACTCTTCCCCCTCCTTGAATGCAGACACGACATCCAAAGGAACACCAGTCATCCTGTGGCCACAGGAATGAAAGCCACCTGCTCAGGGTGGTGGAGCGGGAAGCCAGCAGCAGCCTGCCTCCTCTGCAAGCTTCATGAGCTCCAGCTACCCACCACCCGATTTCTTGTTATCTGAGAACAACAATCCCTATTGTTTAAGCCACAGTGGTCGAGTTTTTGTCATAAGTCCCTGAATGTAATCCTAACGGAAACAGAGAGGGAAGTATGAGTCTGACTGTCACAGAATGGAGGCATCATTAACAGAAATAAGGAATGGGAAAGAAGTCCTGGCTTAGAGCACACAATGAATTGGTTTTATACAAATTTACAGAAAGTGGTTTGGGGGCACATAAACAGAAAAATCCAAAAGGCAACTCAAAACTAGGGAAGAGAGCATGGAAAATTTTCAGAAAATACACCTATGTTGGGTGCAGGGAGATTCTTAAAGAATGGACATGCTATTGCTTGAAGCTGACGGTATTACAGTGATAGTGATGGATGATAACAAAAAGCAGTATTTGCCAGCTTCTCTACACTATTACTTTCTCTGCCAGGCACAACAATCTCCAGAATAAAGAGAATAAAAAAAATGTTAAGCTCCAGATGAGTAGGGTTAATAAAAGGTTACCCTTAGCTGAGTTTGAGCCTCCCTTCTGTTGAATTGTATTTTAGGGTACTGATCCTGAACACTGCTGAACAATATCAGTGATATGCAAGAATCTGGTATGGCTGAGAAGACTGGAAAGGGGCAAATATAATACTTTTAATAAAGTAGAAGATTTATTTTTGCAAACTCCACATCAGTAAGTTTGGTAGAGGATGAGGGCAAAGATTCTAAAATCAATTATTAAAGGGGATGTTTGTGAGCACTAAGGAAAAACAGTGATAGCTCATATAGACCACACTTTTTCATAAAAGGCAAACAATGAATTCATTCAGTGTAGTGTATGTGGACTTCAGCCCAGTGGGTGAAGGCAGCAAAGGGGATCAGCACATAGTTGAAGAACTTGACCAACAGTACTGACAAATGGATCAACGTCAATCTAGAGAAAGGTTCTAGTAGCCTGCCCAAGATCTCACGGTCGTTCTATTCATCATGAAGATTCAGGAGCAAAACAGACAACTAAACAAATACACAGCTGGCAACAAGCTGGGCAGAATGGGTAAACTGAGAAGAAAAAATACAGATTCAAAAATAATTAGAAATTGAAGAGGTAAGAGATCTTGCAACTTTTTGAATCCTAGAGATGAAATACACAAGTCAGAGGTACAGAATATGCAATTTAGGAGAAGCATTTGTGAAAAAACAGGTATACTTAGAAATTTTAGTTAACACAGTACTTAATCCCAGCTCTGGAACTCACCTATATAAAAATGTGTGTGTGGCGGGGCTGGGGGCTAGGTTATTCTCTTTAACTTAGAGAATGCACACAGCGTCCCTCGCATATGCATGGCACTTGGAAGCTACTCAATAAATATTAACTTCCTTTCCTTCCCTCACAATATGAGTCAACAATTGATGCATCTTCCAAGGGGTCATGGGGAGGACT | CTCCTGGGTTCAAGTTTCTCCTGCCTCAGCCTGCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACACCCAGCTAATTTTTGTATTTTTAGTAAAGACGAGGTTTCACCATGTTGGCCAGGCTGGTCTCAATCTCCTGAACTCAGGTGATCCACCTACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATTGAGCCTCCGCACCCAGCCCAAAATATCTTATTGCACCGTACTGCAGGTAAATGAAACCATGGAAGGTGAAACTGCAGATTCAGGGGACTACTGTACCCAATTTCTGTAAGACAAGAACCAACAGAAAGCCAGTTTTCTGATTTGTCCCTTTATTTAGTAACCCTATGCCATGTAAGAGTTGAAATAACTGAGAGGTGTGACTTTCTTGCCTAGAGTGGAAGAGGACTTGAGTGGGCTTTTCCTCCAGTTCATGTATTTTTAGGAAAGAGTACCTATGGAATGTGAAGACCTGGAAACGGATTGCATAAGAGTTATCCAAGCAAAAAAAGAATTATCCAAGCATATGTACTCCTTAGAGATTCCTCGTGCTCCAAAGTGAAGACTTCCATACTATGTCATGCCAAATAGCTACTTGTATAAGTTTTCCTGACTCATAACACACTTGTTCTTTCTATTCTTCTGTTTCAAAGAGGAAAACAAAAAAAAAAGAAAGTATCTTTCCAAAATATTCACCAAAACTTAACCCATCCTAACTTCAAAGTCGAATAATGTACTAAGGATGACCTCACTTATAAAAAGTAAAGGAACTGCTAGAGATATTAAACTTCCAGAAAAGGCTCAGAAAATGATTGAAAAAAGTTTAGAATAGCGAGGAGGCAGTTAGTGAAATCTTAACACCATCAGAAGAAGCTGTTAACTTGGCACGTGGTGCTCTACTTCCTGCAACGAGGCATGTCAATTTCAAATGGGAATAATGATTGTCATTCACAAGAGCATCGTAAAAATGGAACAAGATCCCCTCTGATACGTTTTGGACATCTGTCCTCTCTAAATCTCATGTTGAAATGTAATCCCCAGTTTTGAGGTGGGGCCTGGCGGGAGGTGTTTGGACCATGGGAGCAGATCCCTCACAAATGGCTTGGTACTATCCTTGCGGTAACGAGTGAGTTCTCACTCTGAGTTCATGCAAGACTTGATCGTTTAAAAGAGTCTGGGACCTCCTCCCTCTCTCTCTTGCTCCCTCTCTTGCCATGTGACAGGCTGGATCCTCTGCCACCTTCTGCCATTATTCTAAGTTTCCAAAAGCCCTCACCAGAAGCACATGCTGGCACTATGCTTCCTGTACAACCTGCAGAACCATGGGCCAACACATTCTTTATAGCAATGTAAAAACGGACTGACACACTCTCTACACACACACACAGACACACACACCCCACTCATCTGTTAATACTGAGAACTGTTACTGTGAGAAGATTCTTACCTTTTCAGAAGTATGTGGAAAGATTTGTGTTTTGTGGAAGGCACCAATATTAAGCAAATTTTTTTCTTTTTTTCTTTTTTTTGAGACAGAGTCTCACTTTGTTACCCAGGCTGGAATGCAATGGCACAATCTTGGCTCACTGCAACATTCACCTCCCAGGTTCAAGAAATTCTCATGTCTCAGCTTCCCGAGTAGCTGGGATTACAGGTGCACACCACCACACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTCAGCCAGGCTAGTTTCAAACTCCTGGCCTCAAGTGATCAACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCCTGAGCCACTACACCTGGCCTGTTAAGCAAACTTTTCTTCTTTTAGGGTCTACATGCATTTATATTTAATGAGTAAAATAAAGTTAATGCATGGCAAAAATATTTTTCTGAGGAATTTGAAATCTTACCGAAATGGAGAATCTTTTTTCCTTTTTTCTTTAAAAACACCCATGCTTGGCTTCTTGGAATGGGAGGCTCCGAAATCATAGTCCTCCAACTCTTCCCAGCTATCTCCAGACTTGAAGATACTGACCCCAACGCCTCCTACCACTTTTATGACTCAGTGTGCCATTTGGCTTCTGTGGTGGAAAATCAGTCATCATAATCTTTAATCATGTACTGAATGCCTTTCATGCACAAGCTACTATCTATGTAAGACACTAACAGTCCCCATTCTCAAGGAGCGTTCCATACATGTAAGGGCATAACATATATACACATTTAAAAGCATGAACAAAAATGGGCGGTACATGCCAAAAATATGATAGGTGTTCAGAGGAGAGATCTCTGTGAACTAGGTTGGTGAGAGACTTGAATATTTAGGATCTGAGTTGACTCTTCATTGACAGGAAGGATCTGGAAACCTGAGACTTGGCTATGCTCTTTGGGCAAGTGACTTAACTTCTCAAAGCCTTAGTGTCCTCCTTAAGTGGGGACAGCCTTAATGAGAAGGACACTAAGGCTGGCATGTGCCAGCATCTTTTACTCTTCCCCCTCCTTGAATGCAGACACGACATCCAAAGGAACACCAGTCATCCTGTGGCCACAGGAATGAAAGCCACCTGCTCAGGGTGGTGGAGCGGGAAGCCAGCAGCAGCCTGCCTCCTCTGCAAGCTTCATGAGCTCCAGCTACCCACCACCCGATTTCTTGTTATCTGAGAACAACAATCCCTATTGTTTAAGCCACAGTGGTCGAGTTTTTGTCATAAGTCCCTGAATGTAATCCTAACGGAAACAGAGAGGGAAGTATGAGTCTGACTGTCACAGAATGGAGGCATCATTAACAGAAATAAGGAATGGGAAAGAAGTCCTGGCTTAGAGCACACAATGAATTGGTTTTATACAAATTTACAGAAAGTGGTTTGGGGGCACATAAACAGAAAAATCCAAAAGGCAACTCAAAACTAGGGAAGAGAGCATGGAAAATTTTCAGAAAATACACCTATGTTGGGTGCAGGGAGATTCTTAAAGAATGGACATGCTATTGCTTGAAGCTGACGGTATTACAGTGATAGTGATGGATGATAACAAAAAGCAGTATTTGCCAGCTTCTCTACACTATTACTTTCTCTGCCAGGCACAACAATCTCCAGAATAAAGAGAATAAAAAAAATGTTAAGCTCCAGATGAGTAGGGTTAATAAAAGGTTACCCTTAGCTGAGTTTGAGCCTCCCTTCTGTTGAATTGTATTTTAGGGTACTGATCCTGAACACTGCTGAACAATATCAGTGATATGCAAGAATCTGGTATGGCTGAGAAGACTGGAAAGGGGCAAATATAATACTTTTAATAAAGTAGAAGATTTATTTTTGCAAACTCCACATCAGTAAGTTTGGTAGAGGATGAGGGCAAAGATTCTAAAATCAATTATTAAAGGGGATGTTTGTGAGCACTAAGGAAAAACAGTGATAGCTCATATAGACCACACTTTTTCATAAAAGGCAAACAATGAATTCATTCAGTGTAGTGTATGTGGACTTCAGCCCAGTGGGTGAAGGCAGCAAAGGGGATCAGCACATAGTTGAAGAACTTGACCAACAGTACTGACAAATGGATCAACGTCAATCTAGAGAAAGGTTCTAGTAGCCTGCCCAAGATCTCACGGTCGTTCTATTCATCATGAAGATTCAGGAGCAAAACAGACAACTAAACAAATACACAGCTGGCAACAAGCTGGGCAGAATGGGTAAACTGAGAAGAAAAAATACAGATTCAAAAATAATTAGAAATTGAAGAGGTAAGAGATCTTGCAACTTTTTGAATCCTAGAGATGAAATACACAAGTCAGAGGTACAGAATATGCAATTTAGGAGAAGCATTTGTGAAAAAACAGGTATACTTAGAAATTTTAGTTAACACAGTACTTAATCCCAGCTCTGGAACTCACCTATATAAAAATGTGTGTGTGGCGGGGCTGGGGGCTAGGTTATTCTCTTTAACTTAGAGAATGCACACAGCGTCCCTCGCATATGCATGGCACTTGGAAGCTACTCAATAAATATTAACTTCCTTTCCTTCCCTCACAATATGAGTCAACAATTGATGCATCTTCCAAGGGGTCATGGGGAGGACTNN | pathogenic | 105,815 |
Variant chromosome 6, position 10796052, gene MAK (male germ cell associated kinase): benign or pathogenic? Disease(s)? | pathogenic; ['Retinitis_pigmentosa', 'Retinitis_pigmentosa_62'] | AGAGTTATCAGTCATTGGTGAATGGTGTTATATGCAGAGCCCTTAAGGGAATTGGAGAAGTTTCTCTAGAGAAAAGGGCAGATAATATAAGGGCTATTTTCAAATATCTAAAAGGCTGCCTTTCTAGAAAAGTGATTAGCCTTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGTGGCAGGCACTGGTCGGGGTGCTGAGGCTGTACTGATAAACACACAAACATTCCTGACCTCACTGAGCTTGCTGCATTCCAGAGGAAGAGACAAATAAACAATAAACATAAGAAGTAATTAACAGTATGTTAGAATGTGATTAGTGCTATTGGGGGACGAGGAGGCCTTGCTTATCTAGGTTGGTGGGGCAGTTGGGGACTGGAAGGAAATAGATACAGTGCTGTATAAGACCGATTTCCATCCTAAAATGCCATAATGCAAACACATTTGGGAGTGTATACCCAGTGGGACAGCTAAAATACTACAGCAACTGAAGAGCTCCTGGAGCTGAACAAAAGATGGAAGAAAAAGTTTTATACTATGCCTGACACTTTAAAAACCTATTCTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAATAATAATAATAATAATAATAAATAAAAACCCATTCTCTCCATGTTCCTTAGCATTTAAGAACACTGTAAAATGAAAGTACTGTTAAAAATTCTTAAGATTTAGGATCAGTACTCTGGAGTACCCGATTCTTTTAAATTCTTTCTTTGAATTCTTCTGCATTGAAAGAATTTTAGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTCTCCACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTATAATCCCAGCCACTCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAAATAGAGTGAAACTCCGTCTCAAGAAATAAAAAAGAAAAGCCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGTATCACTTGCAGTCAGGAACTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATATCCAGGCGTGGTGGTGGGCGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGTCAGAGATTGCAGTGAGCTAAGGTCGTGCCACTGCACTCCAGCCTAGGCAACAAAAGCGAACCTCCGTCTCAAAAAAAGAAAAAGAAAAAAGACTGAAGACTGTAGCATGTAAACTTGGTTACTTTTATCCTGAAAGTTTTTCTTTTTATAAACCATATTAGAATTTTAAGTGATCTCATGTCAAGCTCCAACCAGAGGACTCAGGGTCTTTAACAAAGAAAAATCTTTTATATCTTTTCCAACATTATTAGAAATGCCTCGAAAAAAATCTTAATTGCACGAGTCAAACTATTTCATTGCAAGTGTCATGACTGGCTACTCACAGTTGGCATGTTTTTGACGATGCTCGGGAATAGCGTTTGTGGCGGTTTCTCCTGACTCTGTTGCTTTGGAGGTTGCTGGACGCTCAGGTTCTGTGGCGGCTGAATGGGCTGCAGTGGCTGCTGGCTAGTTTTTGGCTGGGGTTGTCCAACAACCTGATCGATTATATCCGGCAGAGGCTTAGGCTCTACCTCAACTAAAGATGGCTTTGATTCTAATGGTTGCAGCTGCTTATTTAAAGACTGTTTTGATTCCAGATGATTTGACGAAGGGCCTAATACCTGACCAACTTGAAAATATGGGTGTTTCAATGCCTATAAAAACACAGAGAAAACAACAAATGGAAAACAGTTCCACCTAAATGTATTGCACATAAACTATGGTTGGCCCTGTGCGAGGCATTTATCATTAGCCCACATGAGCTTCAAAGATTTAGAAAGCAGCCATCATTCCCTATACAGTGCCTCTTTTAAAAGATAACCAGAAAAAAATGATTTGAGAAATAAATTGCATTAAAAAATTAAAAGTGGCTGGGCATGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGATGAGGTGGGAGGATCACTTGCGGTCAGGAGTTCAAGACCAGCCCGACCAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTTGGTGGATGCCTGTAACCCCAGTTATACGGGAGGGTGAGGCATGAGAATCGCTTGAACCTGGGAGGAGGAGATTGTAGTGAGCCAAGATTGTGCCACTGCACTTCAACCTAGGCAACACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTACTAGTAGGAAAAAATAGAAAGCTCACTTGTTATTATAACATCTAAGCAAAACAGCTGTTCTATTTATTTAAAGATTTGTTAGTGAAAATAAAATGTAATTTATAGACATTGGCTAAATTAATGTGATTACTTCAAGCTAAAATACTACACACCAATAATGGTTTAGAGTACACTCAAAGACATTAAAAAGTGAATTAAGAAAATCTTCCATATAGATTATTTGAAATGATTAACCAGAGCTGTATGTAAAATTCCGGGTTACTCTCAGCCTGAGTACAACAATATACCTACTAGTAATAAAAAAAAAATCTAAAGAGGGGACAACAAACACATACTGTTGAAGTTTATTTCATCGGTATACCAGCAAAGAGAAGACATTTATGGGAAGAAAATATAAAAATATTATGAAAAATGATCACTGTTTGAGTTTTATCTAGATCAGTCACCTGACTGCTTGCATGAGAGGGAAAGGACCCCCTGGTGTATGGGTGGCACCATCTAATAGCAGTGCTTCCCAAATGGAGGCAAGTTTGCCCCTTGGGAGATATCTGGCAATGTCTGGAGACATTTCTTATTATAATGACAGGGGTTGGGGGACGCTACTAGTGTCTAGTGTCTAGAGGGCCAGGGACATTGCTAACTATCCCATAATGCACACAATAGCACCCCACAGCAAAGAGTTATCTGGTTCACAACGTCAGTAAGGCTAAAACCGAAAAAATATTCTACAGAATGTCTAAAGCCTGTGTAGCTCAGCTATGGAAAAATTCCCTTATTGGCATCAAATACCTGGGCAAAGTAGCTGGTCATTTTTGGGGGGATGGGTTCCTTAAGATGGTCAAGCTCTGTTCCCCTGAACCTCCTGCCTTTAGCCAGTCCCCACATAGGTGGGAACATAGCCCTGACCAACAGTTAACTCCTCCCATGTGTAAGGGCAGTTTTTAGAGGAACAGAAGGCAGCTTGGTACTTTAAATGGTCTTCATATTCTACAACTTAACCAACCTCTCTCCCTAATTAGGTCTTTCCACTTCCACTAAAAAGCAGGGCTGTGAAACAGAGCACAAGAAAGAGTTTGTTAAGGGTTACTTGCATTCTCAGTGGAATACACAAATATACATAATTTGAATACTTCAATGCCTAGCACACTGAAGGTACTCAAATTCTGAATTAAGTCACATTAAGTAATTAGTATGTCAATATTCCTAAATTAATGATGCATATTTTGGAGCTGGAAACTTTGAGGATGTGTTTTGTAATTTCAAGGCTTTATTT | AGAGTTATCAGTCATTGGTGAATGGTGTTATATGCAGAGCCCTTAAGGGAATTGGAGAAGTTTCTCTAGAGAAAAGGGCAGATAATATAAGGGCTATTTTCAAATATCTAAAAGGCTGCCTTTCTAGAAAAGTGATTAGCCTTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGTGGCAGGCACTGGTCGGGGTGCTGAGGCTGTACTGATAAACACACAAACATTCCTGACCTCACTGAGCTTGCTGCATTCCAGAGGAAGAGACAAATAAACAATAAACATAAGAAGTAATTAACAGTATGTTAGAATGTGATTAGTGCTATTGGGGGACGAGGAGGCCTTGCTTATCTAGGTTGGTGGGGCAGTTGGGGACTGGAAGGAAATAGATACAGTGCTGTATAAGACCGATTTCCATCCTAAAATGCCATAATGCAAACACATTTGGGAGTGTATACCCAGTGGGACAGCTAAAATACTACAGCAACTGAAGAGCTCCTGGAGCTGAACAAAAGATGGAAGAAAAAGTTTTATACTATGCCTGACACTTTAAAAACCTATTCTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAATAATAATAATAATAATAATAAATAAAAACCCATTCTCTCCATGTTCCTTAGCATTTAAGAACACTGTAAAATGAAAGTACTGTTAAAAATTCTTAAGATTTAGGATCAGTACTCTGGAGTACCCGATTCTTTTAAATTCTTTCTTTGAATTCTTCTGCATTGAAAGAATTTTAGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTCTCCACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTATAATCCCAGCCACTCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAAATAGAGTGAAACTCCGTCTCAAGAAATAAAAAAGAAAAGCCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGTATCACTTGCAGTCAGGAACTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATATCCAGGCGTGGTGGTGGGCGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGTCAGAGATTGCAGTGAGCTAAGGTCGTGCCACTGCACTCCAGCCTAGGCAACAAAAGCGAACCTCCGTCTCAAAAAAAGAAAAAGAAAAAAGACTGAAGACTGTAGCATGTAAACTTGGTTACTTTTATCCTGAAAGTTTTTCTTTTTATAAACCATATTAGAATTTTAAGTGATCTCATGTCAAGCTCCAACCAGAGGACTCAGGGTCTTTAACAAAGAAAAATCTTTTATATCTTTTCCAACATTATTAGAAATGCCTCGAAAAAAATCTTAATTGCACGAGTCAAACTATTTCATTGCAAGTGTCATGACTGGCTACTCACAGTTGGCATGTTTTTGACGATGCTCGGGAATAGCGTTTGTGGCGGTTTCTCCTGACTGTTGCTTTGGAGGTTGCTGGACGCTCAGGTTCTGTGGCGGCTGAATGGGCTGCAGTGGCTGCTGGCTAGTTTTTGGCTGGGGTTGTCCAACAACCTGATCGATTATATCCGGCAGAGGCTTAGGCTCTACCTCAACTAAAGATGGCTTTGATTCTAATGGTTGCAGCTGCTTATTTAAAGACTGTTTTGATTCCAGATGATTTGACGAAGGGCCTAATACCTGACCAACTTGAAAATATGGGTGTTTCAATGCCTATAAAAACACAGAGAAAACAACAAATGGAAAACAGTTCCACCTAAATGTATTGCACATAAACTATGGTTGGCCCTGTGCGAGGCATTTATCATTAGCCCACATGAGCTTCAAAGATTTAGAAAGCAGCCATCATTCCCTATACAGTGCCTCTTTTAAAAGATAACCAGAAAAAAATGATTTGAGAAATAAATTGCATTAAAAAATTAAAAGTGGCTGGGCATGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGATGAGGTGGGAGGATCACTTGCGGTCAGGAGTTCAAGACCAGCCCGACCAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTTGGTGGATGCCTGTAACCCCAGTTATACGGGAGGGTGAGGCATGAGAATCGCTTGAACCTGGGAGGAGGAGATTGTAGTGAGCCAAGATTGTGCCACTGCACTTCAACCTAGGCAACACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTACTAGTAGGAAAAAATAGAAAGCTCACTTGTTATTATAACATCTAAGCAAAACAGCTGTTCTATTTATTTAAAGATTTGTTAGTGAAAATAAAATGTAATTTATAGACATTGGCTAAATTAATGTGATTACTTCAAGCTAAAATACTACACACCAATAATGGTTTAGAGTACACTCAAAGACATTAAAAAGTGAATTAAGAAAATCTTCCATATAGATTATTTGAAATGATTAACCAGAGCTGTATGTAAAATTCCGGGTTACTCTCAGCCTGAGTACAACAATATACCTACTAGTAATAAAAAAAAAATCTAAAGAGGGGACAACAAACACATACTGTTGAAGTTTATTTCATCGGTATACCAGCAAAGAGAAGACATTTATGGGAAGAAAATATAAAAATATTATGAAAAATGATCACTGTTTGAGTTTTATCTAGATCAGTCACCTGACTGCTTGCATGAGAGGGAAAGGACCCCCTGGTGTATGGGTGGCACCATCTAATAGCAGTGCTTCCCAAATGGAGGCAAGTTTGCCCCTTGGGAGATATCTGGCAATGTCTGGAGACATTTCTTATTATAATGACAGGGGTTGGGGGACGCTACTAGTGTCTAGTGTCTAGAGGGCCAGGGACATTGCTAACTATCCCATAATGCACACAATAGCACCCCACAGCAAAGAGTTATCTGGTTCACAACGTCAGTAAGGCTAAAACCGAAAAAATATTCTACAGAATGTCTAAAGCCTGTGTAGCTCAGCTATGGAAAAATTCCCTTATTGGCATCAAATACCTGGGCAAAGTAGCTGGTCATTTTTGGGGGGATGGGTTCCTTAAGATGGTCAAGCTCTGTTCCCCTGAACCTCCTGCCTTTAGCCAGTCCCCACATAGGTGGGAACATAGCCCTGACCAACAGTTAACTCCTCCCATGTGTAAGGGCAGTTTTTAGAGGAACAGAAGGCAGCTTGGTACTTTAAATGGTCTTCATATTCTACAACTTAACCAACCTCTCTCCCTAATTAGGTCTTTCCACTTCCACTAAAAAGCAGGGCTGTGAAACAGAGCACAAGAAAGAGTTTGTTAAGGGTTACTTGCATTCTCAGTGGAATACACAAATATACATAATTTGAATACTTCAATGCCTAGCACACTGAAGGTACTCAAATTCTGAATTAAGTCACATTAAGTAATTAGTATGTCAATATTCCTAAATTAATGATGCATATTTTGGAGCTGGAAACTTTGAGGATGTGTTTTGTAATTTCAAGGCTTTATTTNN | pathogenic | 105,818 |
Is the genetic mutation found on chromosome 6 at position 10796193, within the gene MAK (male germ cell associated kinase), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Retinitis_pigmentosa_62'] | TTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGTGGCAGGCACTGGTCGGGGTGCTGAGGCTGTACTGATAAACACACAAACATTCCTGACCTCACTGAGCTTGCTGCATTCCAGAGGAAGAGACAAATAAACAATAAACATAAGAAGTAATTAACAGTATGTTAGAATGTGATTAGTGCTATTGGGGGACGAGGAGGCCTTGCTTATCTAGGTTGGTGGGGCAGTTGGGGACTGGAAGGAAATAGATACAGTGCTGTATAAGACCGATTTCCATCCTAAAATGCCATAATGCAAACACATTTGGGAGTGTATACCCAGTGGGACAGCTAAAATACTACAGCAACTGAAGAGCTCCTGGAGCTGAACAAAAGATGGAAGAAAAAGTTTTATACTATGCCTGACACTTTAAAAACCTATTCTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAATAATAATAATAATAATAATAAATAAAAACCCATTCTCTCCATGTTCCTTAGCATTTAAGAACACTGTAAAATGAAAGTACTGTTAAAAATTCTTAAGATTTAGGATCAGTACTCTGGAGTACCCGATTCTTTTAAATTCTTTCTTTGAATTCTTCTGCATTGAAAGAATTTTAGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTCTCCACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTATAATCCCAGCCACTCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAAATAGAGTGAAACTCCGTCTCAAGAAATAAAAAAGAAAAGCCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGTATCACTTGCAGTCAGGAACTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATATCCAGGCGTGGTGGTGGGCGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGTCAGAGATTGCAGTGAGCTAAGGTCGTGCCACTGCACTCCAGCCTAGGCAACAAAAGCGAACCTCCGTCTCAAAAAAAGAAAAAGAAAAAAGACTGAAGACTGTAGCATGTAAACTTGGTTACTTTTATCCTGAAAGTTTTTCTTTTTATAAACCATATTAGAATTTTAAGTGATCTCATGTCAAGCTCCAACCAGAGGACTCAGGGTCTTTAACAAAGAAAAATCTTTTATATCTTTTCCAACATTATTAGAAATGCCTCGAAAAAAATCTTAATTGCACGAGTCAAACTATTTCATTGCAAGTGTCATGACTGGCTACTCACAGTTGGCATGTTTTTGACGATGCTCGGGAATAGCGTTTGTGGCGGTTTCTCCTGACTCTGTTGCTTTGGAGGTTGCTGGACGCTCAGGTTCTGTGGCGGCTGAATGGGCTGCAGTGGCTGCTGGCTAGTTTTTGGCTGGGGTTGTCCAACAACCTGATCGATTATATCCGGCAGAGGCTTAGGCTCTACCTCAACTAAAGATGGCTTTGATTCTAATGGTTGCAGCTGCTTATTTAAAGACTGTTTTGATTCCAGATGATTTGACGAAGGGCCTAATACCTGACCAACTTGAAAATATGGGTGTTTCAATGCCTATAAAAACACAGAGAAAACAACAAATGGAAAACAGTTCCACCTAAATGTATTGCACATAAACTATGGTTGGCCCTGTGCGAGGCATTTATCATTAGCCCACATGAGCTTCAAAGATTTAGAAAGCAGCCATCATTCCCTATACAGTGCCTCTTTTAAAAGATAACCAGAAAAAAATGATTTGAGAAATAAATTGCATTAAAAAATTAAAAGTGGCTGGGCATGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGATGAGGTGGGAGGATCACTTGCGGTCAGGAGTTCAAGACCAGCCCGACCAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTTGGTGGATGCCTGTAACCCCAGTTATACGGGAGGGTGAGGCATGAGAATCGCTTGAACCTGGGAGGAGGAGATTGTAGTGAGCCAAGATTGTGCCACTGCACTTCAACCTAGGCAACACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTACTAGTAGGAAAAAATAGAAAGCTCACTTGTTATTATAACATCTAAGCAAAACAGCTGTTCTATTTATTTAAAGATTTGTTAGTGAAAATAAAATGTAATTTATAGACATTGGCTAAATTAATGTGATTACTTCAAGCTAAAATACTACACACCAATAATGGTTTAGAGTACACTCAAAGACATTAAAAAGTGAATTAAGAAAATCTTCCATATAGATTATTTGAAATGATTAACCAGAGCTGTATGTAAAATTCCGGGTTACTCTCAGCCTGAGTACAACAATATACCTACTAGTAATAAAAAAAAAATCTAAAGAGGGGACAACAAACACATACTGTTGAAGTTTATTTCATCGGTATACCAGCAAAGAGAAGACATTTATGGGAAGAAAATATAAAAATATTATGAAAAATGATCACTGTTTGAGTTTTATCTAGATCAGTCACCTGACTGCTTGCATGAGAGGGAAAGGACCCCCTGGTGTATGGGTGGCACCATCTAATAGCAGTGCTTCCCAAATGGAGGCAAGTTTGCCCCTTGGGAGATATCTGGCAATGTCTGGAGACATTTCTTATTATAATGACAGGGGTTGGGGGACGCTACTAGTGTCTAGTGTCTAGAGGGCCAGGGACATTGCTAACTATCCCATAATGCACACAATAGCACCCCACAGCAAAGAGTTATCTGGTTCACAACGTCAGTAAGGCTAAAACCGAAAAAATATTCTACAGAATGTCTAAAGCCTGTGTAGCTCAGCTATGGAAAAATTCCCTTATTGGCATCAAATACCTGGGCAAAGTAGCTGGTCATTTTTGGGGGGATGGGTTCCTTAAGATGGTCAAGCTCTGTTCCCCTGAACCTCCTGCCTTTAGCCAGTCCCCACATAGGTGGGAACATAGCCCTGACCAACAGTTAACTCCTCCCATGTGTAAGGGCAGTTTTTAGAGGAACAGAAGGCAGCTTGGTACTTTAAATGGTCTTCATATTCTACAACTTAACCAACCTCTCTCCCTAATTAGGTCTTTCCACTTCCACTAAAAAGCAGGGCTGTGAAACAGAGCACAAGAAAGAGTTTGTTAAGGGTTACTTGCATTCTCAGTGGAATACACAAATATACATAATTTGAATACTTCAATGCCTAGCACACTGAAGGTACTCAAATTCTGAATTAAGTCACATTAAGTAATTAGTATGTCAATATTCCTAAATTAATGATGCATATTTTGGAGCTGGAAACTTTGAGGATGTGTTTTGTAATTTCAAGGCTTTATTTATAACAACTCTTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCACGATCTTGGCTCACTGCATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCG | TTCATTAAAAGCTAGAAAACCAGATTTTACCCAGTATTAAGGAAGAACTTTCTAATATTCAGAACTGTTCCAAAGATAAAAGTGGACTCCCCAGGACCCCAGAGGTGGTTTACAAGTCATGTGGGCAATTATTCATTCCTTCATTCACTGAACAAATATCTACTGAGAATCTACCATGTGGCAGGCACTGGTCGGGGTGCTGAGGCTGTACTGATAAACACACAAACATTCCTGACCTCACTGAGCTTGCTGCATTCCAGAGGAAGAGACAAATAAACAATAAACATAAGAAGTAATTAACAGTATGTTAGAATGTGATTAGTGCTATTGGGGGACGAGGAGGCCTTGCTTATCTAGGTTGGTGGGGCAGTTGGGGACTGGAAGGAAATAGATACAGTGCTGTATAAGACCGATTTCCATCCTAAAATGCCATAATGCAAACACATTTGGGAGTGTATACCCAGTGGGACAGCTAAAATACTACAGCAACTGAAGAGCTCCTGGAGCTGAACAAAAGATGGAAGAAAAAGTTTTATACTATGCCTGACACTTTAAAAACCTATTCTGGCCAGGTGCGGTGGCTCAGGCCTGTAATCCAAGCACTTTGGGAGGCCAAGGAGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCGGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCTGGGCATGGTGGCACATGCCTGTAATCCGAGCTACTCAGGAGGCTGAGGCAGGAGGATTGCTTGAACCTGGGAGGTGGAGGTTGTGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAATAATAATAATAATAATAATAAATAAAAACCCATTCTCTCCATGTTCCTTAGCATTTAAGAACACTGTAAAATGAAAGTACTGTTAAAAATTCTTAAGATTTAGGATCAGTACTCTGGAGTACCCGATTCTTTTAAATTCTTTCTTTGAATTCTTCTGCATTGAAAGAATTTTAGGCCGGGCTTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGATGGGTGGATCATCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTCTCCACTAAAAATACAAAAATTAGCTGGGTGTGGTGGTGGGTGCCTATAATCCCAGCCACTCAGGAAGCTGAGGCAAGAGAACTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCTGGGCAAATAGAGTGAAACTCCGTCTCAAGAAATAAAAAAGAAAAGCCCAGGTGCAGTGGCTCATGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGCGGGTGTATCACTTGCAGTCAGGAACTCAAGACCAGCCTGGACAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAATATCCAGGCGTGGTGGTGGGCGTCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGTCAGAGATTGCAGTGAGCTAAGGTCGTGCCACTGCACTCCAGCCTAGGCAACAAAAGCGAACCTCCGTCTCAAAAAAAGAAAAAGAAAAAAGACTGAAGACTGTAGCATGTAAACTTGGTTACTTTTATCCTGAAAGTTTTTCTTTTTATAAACCATATTAGAATTTTAAGTGATCTCATGTCAAGCTCCAACCAGAGGACTCAGGGTCTTTAACAAAGAAAAATCTTTTATATCTTTTCCAACATTATTAGAAATGCCTCGAAAAAAATCTTAATTGCACGAGTCAAACTATTTCATTGCAAGTGTCATGACTGGCTACTCACAGTTGGCATGTTTTTGACGATGCTCGGGAATAGCGTTTGTGGCGGTTTCTCCTGACTCTGTTGCTTTGGAGGTTGCTGGACGCTCAGGTTCTGTGGCGGCTGAATGGGCTGCAGTGGCTGCTGGCTAGTTTTTGGCTGGGGTTGTCCAACAACCTGATCGATTATATCCGGCAGAGGCTTAGGCTCTACCTCAACTAAAAGATGGCTTTGATTCTAATGGTTGCAGCTGCTTATTTAAAGACTGTTTTGATTCCAGATGATTTGACGAAGGGCCTAATACCTGACCAACTTGAAAATATGGGTGTTTCAATGCCTATAAAAACACAGAGAAAACAACAAATGGAAAACAGTTCCACCTAAATGTATTGCACATAAACTATGGTTGGCCCTGTGCGAGGCATTTATCATTAGCCCACATGAGCTTCAAAGATTTAGAAAGCAGCCATCATTCCCTATACAGTGCCTCTTTTAAAAGATAACCAGAAAAAAATGATTTGAGAAATAAATTGCATTAAAAAATTAAAAGTGGCTGGGCATGGTGGCTCACGCCTATAATCCTAGCACTTTGGGAGGATGAGGTGGGAGGATCACTTGCGGTCAGGAGTTCAAGACCAGCCCGACCAACATGGTGAAACCCAGTCTCTACTAAAAATACAAAAATTAGCCAGGCGTGTTGGTGGATGCCTGTAACCCCAGTTATACGGGAGGGTGAGGCATGAGAATCGCTTGAACCTGGGAGGAGGAGATTGTAGTGAGCCAAGATTGTGCCACTGCACTTCAACCTAGGCAACACAGCGAGACTCCACCTCAAAAAAAAAAAAAAAAAAGTACTAGTAGGAAAAAATAGAAAGCTCACTTGTTATTATAACATCTAAGCAAAACAGCTGTTCTATTTATTTAAAGATTTGTTAGTGAAAATAAAATGTAATTTATAGACATTGGCTAAATTAATGTGATTACTTCAAGCTAAAATACTACACACCAATAATGGTTTAGAGTACACTCAAAGACATTAAAAAGTGAATTAAGAAAATCTTCCATATAGATTATTTGAAATGATTAACCAGAGCTGTATGTAAAATTCCGGGTTACTCTCAGCCTGAGTACAACAATATACCTACTAGTAATAAAAAAAAAATCTAAAGAGGGGACAACAAACACATACTGTTGAAGTTTATTTCATCGGTATACCAGCAAAGAGAAGACATTTATGGGAAGAAAATATAAAAATATTATGAAAAATGATCACTGTTTGAGTTTTATCTAGATCAGTCACCTGACTGCTTGCATGAGAGGGAAAGGACCCCCTGGTGTATGGGTGGCACCATCTAATAGCAGTGCTTCCCAAATGGAGGCAAGTTTGCCCCTTGGGAGATATCTGGCAATGTCTGGAGACATTTCTTATTATAATGACAGGGGTTGGGGGACGCTACTAGTGTCTAGTGTCTAGAGGGCCAGGGACATTGCTAACTATCCCATAATGCACACAATAGCACCCCACAGCAAAGAGTTATCTGGTTCACAACGTCAGTAAGGCTAAAACCGAAAAAATATTCTACAGAATGTCTAAAGCCTGTGTAGCTCAGCTATGGAAAAATTCCCTTATTGGCATCAAATACCTGGGCAAAGTAGCTGGTCATTTTTGGGGGGATGGGTTCCTTAAGATGGTCAAGCTCTGTTCCCCTGAACCTCCTGCCTTTAGCCAGTCCCCACATAGGTGGGAACATAGCCCTGACCAACAGTTAACTCCTCCCATGTGTAAGGGCAGTTTTTAGAGGAACAGAAGGCAGCTTGGTACTTTAAATGGTCTTCATATTCTACAACTTAACCAACCTCTCTCCCTAATTAGGTCTTTCCACTTCCACTAAAAAGCAGGGCTGTGAAACAGAGCACAAGAAAGAGTTTGTTAAGGGTTACTTGCATTCTCAGTGGAATACACAAATATACATAATTTGAATACTTCAATGCCTAGCACACTGAAGGTACTCAAATTCTGAATTAAGTCACATTAAGTAATTAGTATGTCAATATTCCTAAATTAATGATGCATATTTTGGAGCTGGAAACTTTGAGGATGTGTTTTGTAATTTCAAGGCTTTATTTATAACAACTCTTCCCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGACTGGAGTGCAGTGGCACGATCTTGGCTCACTGCATCCGCCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCC | pathogenic | 105,821 |
Variant in gene MAK (male germ cell associated kinase), located at chromosome 6 position 10802003: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Retinal_dystrophy'] | GAAGAATTGCTTGTATCTGGGAGGCGGAGGGTGTAGTGAACCGAGATCACGCTACTGCACTCCAGCCTGGGCGATGGAGCGAGACTCCGTTTCAAAAACAAAAACAAAAACAAAAAAAAACTAAACAAAAAAACCCCTCTGGTCTCTACAAAAATACAAAAATAAGCCAAGCGTGGTGGCGGGCACCTGCAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTACACTCCAGCCTGGGCAACAGAAACTCCATCTCAAAAAAAAAAGAAAATACACATACACATTTCAGTATTTTTCTTGTGTTTCTGTAGGAGTATTATATTAAGAATTAAAAATAATTTTCTCTGTCTTATCTTTCCATTTTAAGATTTTTACATAGAGAAAAATTTTACTTTTTATGTAATCAAATTGTTTGAATCTTCCTTTTGTGGTTTCTTCTATTATTTTTATACCCGTGTTTTTTCACCTTGAGATCAAATACACATGTATGCTTTCCTTTTGTTTCTAACAGTTTAGGGTGCTTTTTTTTTTACACTTTGAAAATGTAATCCTGGTCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTGGGAGGTCGAGACCAGCCTCACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCTCATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAACAACAACAACAAAATGTAACCCTTCTGTGAGTTGTAAAGTATGGTGAGCAGTAAGGACCTCAATTTATTTTTTTCCCTAAGAGCTAATGAATTTTCCCAGTATCACCCACTGAGCCGTCCTCCCCTCTTTGTGATGCCACGTTTGTTTACCTTGTGCTGACTCATATGTTCTGCAACATTCAGCTATTTGTCAATTCTTATGCCAGTACTTCCACTGTTACCATCATCAATTTAAAGATTACTTTAATATCTGATGGGGCAAGCTGTCCATCCCTATCACCGCTCTCTAATTCCTTATTCTTGTTTTAACATATCTTGACTATCCTTTCCCATTTGTTCTTCCAGATGACATTTAGAAAACATTTTCTCAAGATTAATTTTAAAAAAAGCAAAATAAATTTTTGTAATTTTCACATGGAATTTATATTTAAATGATGAGAATACAATAAAGTTTATTATTGCCTTTTTATTGAAGCCTTGCAGACAAAAACACTGGGTTTAAAGGCCCTAGACTTGGAATACATCTGTAGATATGTCAGGTGTAGTCACAAAGGAACAAAGCCTGGGTGCCACAATGCTGCCCTCTTGTGGCAGCCAGAGGCTGCACACTCCAGTCCCAGCAAGGGATGATACTGTTGTATAAAGTGAACCAGAATCCCACCCCTAAACTGTAAAGGCAGCATAGGAAAGTCTACTATGTGGAATGATTCATGAGATGCCTTTTTGCTTCCATGACAGATTCCTTCATAACTAGTCTGTCGCAGGTCTGAATTTTTATCATTGCAGATTGATTCCTTGTTGCAACCTCAGGGTTCTTCATTTGAACCACAAAACTCAGAAAATCATTGGTGTGGCTATTTCTGCATTTCTCCCAATGATATTATATGCCTAGAAATTAATTTATTACATACGCTGGATGCCTAGGACTTTGTGTTTAATTCTCTTAGTAAAATCCTGGTTGAGAATAGACCTGCCTTTGTAAATGAAAACATCCCTGATATTACAAAACCTAAACATTTTTAAAGGTCTAACAGGAAGACTCCTCTTACCTGGCTTGCTGTCGGTCGTTTCTTTGGATCCCAATTCAACATTTCGGTCATGAGCTGAATAGCTTCATTACTGGCATTGGGAATAAGAGTTTTTAAGTTTATAGGAACACACTGGGGAAAACGGAAGTTCATAGAGGATGCCAGCTGGTATCCTTCTGGCCAGTCACTCTGTTTCAGGAATATATAAGTGCAGGTGGGGAGGGCAAAACAAATTGTTTTTAGTAATCCATTTAAAAAACACAGCAGTAATATAAACATCATTTATGTTTGAACATTTTCATGTTGATCCATATAAACATGAAAATGAAATACCAGACCACGTCTATAATTTAGTGCTACGACAGTATAGAAAGAACATTAAGCTGAGAGTTAGGAAACAATGCGAAAAGCACTTTTATAGCTTTTTTTTGTTTGTTTTTTTGTGTTTTTTTTGAGACAGGATCTGGCTCTGTTATCCAGGTTGGAGTGCAGTGGAGCAATCATGGCTCACTACAGCCTCACCCTCCCGGGCTCAAAAGATCCTCCTACCTCAGACTCCTGAGTAGCTGGGACTACAGGTGCGCACCATCACACCTGGCTAATTTTTTTTTGTGGAGACGGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTGGGCTTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCATGCCCGCCTTTATAAATTTTGCAATATTAAGCTCTTGTCTGGTTTTAGATCCTGATGGTGATGTTGCTGTGATGATACCTGGGTTAACTCTGAACAAATAAGGAAAAGTGCTTTACAAAGAGGCTGACTGTGAACAAAGATCCTTGTCGTGTATATTACCCATTGCATACAATGTTAAAAATGCACATATCTGGGAAATGACAATTACATTAAAGCTTTAATATCTACATTTACTTGTGTAATGTTAACTACAAGGCACTTACTAATTTAATTAGGATGTCATTATATACACACTTATAAAGCACATTTCAGAAAGAAAGGTGTAGATGAAATATAGTTAATTGAAAAGCACTCAGTTCAAGAAGTCAAATATCCACAGGGGAGATATAAAAAAGGAAACAAGAAACGGTTAAGAAAAAACAAGGTTCAAGACACCAGGGGTTAACAGGTGATGCCAATGGCCAGCCACAGAATGAGCAGGAAAGAGCTCAAGCAAGGCTGTCTGTACAGTGTCAGCTGGGCATCACCCCCAAGTTACACTCTAAACACACAGAATTTTTCCTGAAGTTCTTAAGGAAAGGCAAGCACCTGTTTTTCTTCAGCTGGTGGGATTCTGGCTTCTTGCAATCCTTAACCCACTCCGATTAAAAAAATAAGGATTACAGCCGGGCGTGGTGGCTCACACCAAGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCAGATCGCTTGAGCTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCTCCTCTCTACTAACAATAGAAAAATTGACCAGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAATTATAAGAAAATTAATCATTAAAGTATGAGCCTATTTCAAAATGAAAATATCAGATATCTAGGCAAAAGTTGTAAATAATCAAAATTATAAAATTAAAAGCAAAGTAGCAAGATAGAAATAATCAAAAGTTATAGCAACTTAGGGACAAGAGTACTTACTTTTTTGGGAGTCCCTAAAACTTGGCAAATTTTAAAGATTTCATCGACCTCACTTGTCCCTGGGAAAAGTGGCCTTAACATATAGAGTTCAGCCATGATACTTCCAACAGCCCACACATCAATGGGAGAACTATAAACTGAAGATCTCAGTAAAACTTCAGGGGCACGATACCTATGAAAATAGAGAACAAAAGAGGTAATTTTGATTGCAATTTCAAAGGTGGATGGGCAGTAGCATTCTACGCTGTGTGGTCATGCATTTCCATCAAGGAACAGGTATTCAGACCCTGTTCCATCTGTGTGTCAGGCATTTGTACAATGTTCTGGGGAT | GAAGAATTGCTTGTATCTGGGAGGCGGAGGGTGTAGTGAACCGAGATCACGCTACTGCACTCCAGCCTGGGCGATGGAGCGAGACTCCGTTTCAAAAACAAAAACAAAAACAAAAAAAAACTAAACAAAAAAACCCCTCTGGTCTCTACAAAAATACAAAAATAAGCCAAGCGTGGTGGCGGGCACCTGCAATCCCAGCAACTCGGGAGGCTGAGGCAGGAGAATCGCCTGAACCCAGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTACACTCCAGCCTGGGCAACAGAAACTCCATCTCAAAAAAAAAAGAAAATACACATACACATTTCAGTATTTTTCTTGTGTTTCTGTAGGAGTATTATATTAAGAATTAAAAATAATTTTCTCTGTCTTATCTTTCCATTTTAAGATTTTTACATAGAGAAAAATTTTACTTTTTATGTAATCAAATTGTTTGAATCTTCCTTTTGTGGTTTCTTCTATTATTTTTATACCCGTGTTTTTTCACCTTGAGATCAAATACACATGTATGCTTTCCTTTTGTTTCTAACAGTTTAGGGTGCTTTTTTTTTTACACTTTGAAAATGTAATCCTGGTCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCAGATCACCTGAGGTTGGGAGGTCGAGACCAGCCTCACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGCGTGGTGGCTCATGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGGTGGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCGGTGAGCCGAGATCATGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCATCTCAACAACAACAACAAAATGTAACCCTTCTGTGAGTTGTAAAGTATGGTGAGCAGTAAGGACCTCAATTTATTTTTTTCCCTAAGAGCTAATGAATTTTCCCAGTATCACCCACTGAGCCGTCCTCCCCTCTTTGTGATGCCACGTTTGTTTACCTTGTGCTGACTCATATGTTCTGCAACATTCAGCTATTTGTCAATTCTTATGCCAGTACTTCCACTGTTACCATCATCAATTTAAAGATTACTTTAATATCTGATGGGGCAAGCTGTCCATCCCTATCACCGCTCTCTAATTCCTTATTCTTGTTTTAACATATCTTGACTATCCTTTCCCATTTGTTCTTCCAGATGACATTTAGAAAACATTTTCTCAAGATTAATTTTAAAAAAAGCAAAATAAATTTTTGTAATTTTCACATGGAATTTATATTTAAATGATGAGAATACAATAAAGTTTATTATTGCCTTTTTATTGAAGCCTTGCAGACAAAAACACTGGGTTTAAAGGCCCTAGACTTGGAATACATCTGTAGATATGTCAGGTGTAGTCACAAAGGAACAAAGCCTGGGTGCCACAATGCTGCCCTCTTGTGGCAGCCAGAGGCTGCACACTCCAGTCCCAGCAAGGGATGATACTGTTGTATAAAGTGAACCAGAATCCCACCCCTAAACTGTAAAGGCAGCATAGGAAAGTCTACTATGTGGAATGATTCATGAGATGCCTTTTTGCTTCCATGACAGATTCCTTCATAACTAGTCTGTCGCAGGTCTGAATTTTTATCATTGCAGATTGATTCCTTGTTGCAACCTCAGGGTTCTTCATTTGAACCACAAAACTCAGAAAATCATTGGTGTGGCTATTTCTGCATTTCTCCCAATGATATTATATGCCTAGAAATTAATTTATTACATACGCTGGATGCCTAGGACTTTGTGTTTAATTCTCTTAGTAAAATCCTGGTTGAGAATAGACCTGCCTTTGTAAATGAAAACATCCCTGATATTACAAAACCTAAACATTTTTAAAGGTCTAACAGGAAGACTCCTCTTACCTGGCTTGCTGTCGGTCGTTTCTTTGGATCCCAATTCAACATTTCGGTCATGAGCTGAATAGCTTCATTACTGGCATTGGGAATAAGAGTTTTTAAGTTTATAGGAACACACGGGAAAACGGAAGTTCATAGAGGATGCCAGCTGGTATCCTTCTGGCCAGTCACTCTGTTTCAGGAATATATAAGTGCAGGTGGGGAGGGCAAAACAAATTGTTTTTAGTAATCCATTTAAAAAACACAGCAGTAATATAAACATCATTTATGTTTGAACATTTTCATGTTGATCCATATAAACATGAAAATGAAATACCAGACCACGTCTATAATTTAGTGCTACGACAGTATAGAAAGAACATTAAGCTGAGAGTTAGGAAACAATGCGAAAAGCACTTTTATAGCTTTTTTTTGTTTGTTTTTTTGTGTTTTTTTTGAGACAGGATCTGGCTCTGTTATCCAGGTTGGAGTGCAGTGGAGCAATCATGGCTCACTACAGCCTCACCCTCCCGGGCTCAAAAGATCCTCCTACCTCAGACTCCTGAGTAGCTGGGACTACAGGTGCGCACCATCACACCTGGCTAATTTTTTTTTGTGGAGACGGGGTTTCACTATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCTGCCTGGGCTTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCATGCCCGCCTTTATAAATTTTGCAATATTAAGCTCTTGTCTGGTTTTAGATCCTGATGGTGATGTTGCTGTGATGATACCTGGGTTAACTCTGAACAAATAAGGAAAAGTGCTTTACAAAGAGGCTGACTGTGAACAAAGATCCTTGTCGTGTATATTACCCATTGCATACAATGTTAAAAATGCACATATCTGGGAAATGACAATTACATTAAAGCTTTAATATCTACATTTACTTGTGTAATGTTAACTACAAGGCACTTACTAATTTAATTAGGATGTCATTATATACACACTTATAAAGCACATTTCAGAAAGAAAGGTGTAGATGAAATATAGTTAATTGAAAAGCACTCAGTTCAAGAAGTCAAATATCCACAGGGGAGATATAAAAAAGGAAACAAGAAACGGTTAAGAAAAAACAAGGTTCAAGACACCAGGGGTTAACAGGTGATGCCAATGGCCAGCCACAGAATGAGCAGGAAAGAGCTCAAGCAAGGCTGTCTGTACAGTGTCAGCTGGGCATCACCCCCAAGTTACACTCTAAACACACAGAATTTTTCCTGAAGTTCTTAAGGAAAGGCAAGCACCTGTTTTTCTTCAGCTGGTGGGATTCTGGCTTCTTGCAATCCTTAACCCACTCCGATTAAAAAAATAAGGATTACAGCCGGGCGTGGTGGCTCACACCAAGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCAGATCGCAGATCGCTTGAGCTCAAGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCTCCTCTCTACTAACAATAGAAAAATTGACCAGGCGTGGTGGTGCACACCTGTAATCCCAGCTACTTGGGAGGCTGAGGCATGAGAATTGCTTAAACCTGGGAGGTGGAGGTTGCAGTGAGCTGAGATTGAGCCACTGCACTCCAACCTGGGCAACAGAGCAAGACTCCATCTCAAAAAAAAAAAAAGAATTATAAGAAAATTAATCATTAAAGTATGAGCCTATTTCAAAATGAAAATATCAGATATCTAGGCAAAAGTTGTAAATAATCAAAATTATAAAATTAAAAGCAAAGTAGCAAGATAGAAATAATCAAAAGTTATAGCAACTTAGGGACAAGAGTACTTACTTTTTTGGGAGTCCCTAAAACTTGGCAAATTTTAAAGATTTCATCGACCTCACTTGTCCCTGGGAAAAGTGGCCTTAACATATAGAGTTCAGCCATGATACTTCCAACAGCCCACACATCAATGGGAGAACTATAAACTGAAGATCTCAGTAAAACTTCAGGGGCACGATACCTATGAAAATAGAGAACAAAAGAGGTAATTTTGATTGCAATTTCAAAGGTGGATGGGCAGTAGCATTCTACGCTGTGTGGTCATGCATTTCCATCAAGGAACAGGTATTCAGACCCTGTTCCATCTGTGTGTCAGGCATTTGTACAATGTTCTGGGGATNN | pathogenic | 105,824 |
Chromosome 6, position 10808906, gene MAK (male germ cell associated kinase): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Retinitis_pigmentosa_62'] | CCATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAAAAAAATCCTGCTGGCCCTGGCATCTCCATCAGGGCTACTCTCAGTCAGACCCTCCATGTAACATTCCTTTCTCTCCCCATCTCCCCCAACTCCCTGCCCCCTTTCCTATTTTATTTTTCTTTATAATAATGTATCAACATCTGATACACATATATTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCAAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGCACCAAGGCGCGTGACACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGATACACATATGTTCTTGTTTTCACTGGAGTATAATATTCACACAGGCAGAGGCATGTGTTGTAAGAGTAGAGCTTGATGAATTTTCACAAATACAACACATCCACAGACCCAGCACCCAGATCAAGAAAGACATGTTATCGGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACTATGCATAGGAGGCCAAGGTGGGAGGATCACCGGAGGTCAGGAATTTGAGACCAGCCTGGCTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAGACATGCTATCAGCACCCAGAAGGCCCCTTGTGCACTAGTCCAGGCACTACACACATCCCCACCCCATAGAACTGCTTGCTATCCTGACTTTCATGGCACAGATTAGTTTTCTCTTTTTTTGTACTTTGCATAAATGAAATCATATGGTATGTGCTCTTTTTCTCTTTGGGCTCTTGATCTCAACATTGTCTAAGATTCGTCCACATTGCTGCATGCAGTCATAGACCCTTCGTTCTCATTGTTGCAAAGCATTCCACTGGGTGAGTATACGATGCTACTGTTCATGGACGTTTGGGTGGCGTGCAGTAGAGAGGATTCATGTCTTCTGGTGAACACGTGTATGTCTTTCTGTTGGTGATCCATAATATTTTTAACTTGTTTATCTGTCTATTGGCTGTCATGTAAGCAGCATAAGGCAGAGATTTTTCTTTTCTTTTTTTATTTCACTGCTGTGTTCTCTGTGCCTAAAATGATGTTTGGCACATAGTAGGTGTTCAATAAATATTTGTTGAATGAATGAATGAGTGAATAAATGAAATTCTTTTTCCTTTTTTTTTCAGTGATCAGAATAGCAATAAACCAATCCTTCGCTTTCTTTAAAGAATATAAAATTCAATTCTGTGTTTTAAATATTCAATATGGAACTTCCAGAAATATGTAACAATCCATCGTAGGAAAATTTCACCATAGGCTTATGCCTCAGGAGGGCTGCATAACCCCTACTCACCATCTGGTAGATACATAATCAGTGTATGGTGGCTGTGACCTTAATTCTCTTGCAAGTCCAAAATCAGCAATTTTCACAAGCTCTGGACCCATACAAAGCAAGTTTTCTGGTTTCATGTCCCTATGAAAAAAGCCTTGATGATATACGGAGAAAAAAAAATACAGTAAATCATTACGTTTAAACATAGCTTTATTTGATTTATAAACAAAATATAAATGAACCCCCTCTTTTATAATTCAAAACATCATCTTAGGAAAAAAGTAAACCATATTTATTGTCTAAGAAGTAAATGGGGCGTAGGGACCCTGCTTTTAAAATGCTTTGGCAAGAAAGTTCACACAGTGTATGAGATAATTAAAAATAACCACCCATTTAACATTTATTTTTATTTGTGACTCCAGTGGGTGTTCAGGCACTGGGCTAGGTATTACCACACTATGATTATCTCCATTCATTTGCACAACAACCTGAAGGAGGTACTGTTATCACTATTGTGCAATAGAGGAGGAGGTTGAGGGCCAGAGTGAAGTCACCTAATTAACGTGTGAGAAGTGTTTTTGTTTTTAAGATAGGTCTTGCTCTGTTGTCCAGGCCAGAGCGTAGTGGCTCGATCTCGGCTCAAGCAATCCTCTCGGCCCACTAAGTAGCTGGGACCACAGGTGCATGCCACCACTCCCACCTAATTTTTGGTATTTTTGATAGAGACAGGGTTTTGCCACGTCACCCAGGCTGAGAAGAGCACTTTTTAATCAGGCTTGAGTCAGTGCAGCTGACTTCTTGAGAAAAATCACTTGTTTAAAAAGTCCATTCAATAAAAATGGAACTCCACACATCAGAACTAATTTCTTCATTTAAAATTATTTTATCTAATGTTCAGTTTTCCTCAATAGCTGTGTCGTTGCAAAATCCCAATAATTATAATGTTTATATTAGCAATTCAATCTATAAAATAAATGGTTATGAAGCTAAAAGGGAAACCAAAGAAAATGAGGCAGAAAGCCCAGTGGGGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTATACTAAAAATACCAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAACCCAGGGGGAAAAGAACAAACATTAAAGCCCTCCTGGCAGATGAGATTTGTCTTAAGGGAGGCTTTTTCTAAGGGCAGTCTACAGCATTCTGGTTATATCCAAATGGCTTGGGTTCCAAAGGCCTTGGGAGGCAGGGAGACTGCAGGTGATCACTTGAAGAGGGTTTTCATGTAGCTTTGGAGCTGGGAAGACTTTCTTTTATCTTTTTCTTTTTTTTTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGGAGTGTAGTGGCGCAATCTGGGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGGATTACAGGCGTCTGCCACCACACTCGGCTAATTGTTTGTATTTTTAGTAGAAACTGGATTTTGCCATGTTGGCCAGGGTGGTCTCAAACTTCTGACCTTGTGATCCACCTGCTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGGCCAGCTGGGGTTGGGAAGCCTTTTTAAGCCTAAATGTTTTTAATCACTTCAAAGCCAGAGTGGGCTCTGTTTGTGACATCTGTTTAACAGTTTTGTAATCTGAGTTTATCCAGTACTTCTTACTCTAAATAGTAAGTAACATCCATTTCACTATGTCCAAGAGACATTCAGATACTTTTGTAATGTAACGACAGGAATGGGACCATGTGATGCACAGCAGAGTGACACTAATCCATAAAGTCTTAGAGAACTAAACCAATTACATATTTGTACAGCTGAGGTTTTCCCCATCCTAATATACATATATTAATAATTCAGTCC | CCATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAAAAAAATCCTGCTGGCCCTGGCATCTCCATCAGGGCTACTCTCAGTCAGACCCTCCATGTAACATTCCTTTCTCTCCCCATCTCCCCCAACTCCCTGCCCCCTTTCCTATTTTATTTTTCTTTATAATAATGTATCAACATCTGATACACATATATTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCAAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGCACCAAGGCGCGTGACACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGATACACATATGTTCTTGTTTTCACTGGAGTATAATATTCACACAGGCAGAGGCATGTGTTGTAAGAGTAGAGCTTGATGAATTTTCACAAATACAACACATCCACAGACCCAGCACCCAGATCAAGAAAGACATGTTATCGGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACTATGCATAGGAGGCCAAGGTGGGAGGATCACCGGAGGTCAGGAATTTGAGACCAGCCTGGCTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAGACATGCTATCAGCACCCAGAAGGCCCCTTGTGCACTAGTCCAGGCACTACACACATCCCCACCCCATAGAACTGCTTGCTATCCTGACTTTCATGGCACAGATTAGTTTTCTCTTTTTTTGTACTTTGCATAAATGAAATCATATGGTATGTGCTCTTTTTCTCTTTGGGCTCTTGATCTCAACATTGTCTAAGATTCGTCCACATTGCTGCATGCAGTCATAGACCCTTCGTTCTCATTGTTGCAAAGCATTCCACTGGGTGAGTATACGATGCTACTGTTCATGGACGTTTGGGTGGCGTGCAGTAGAGAGGATTCATGTCTTCTGGTGAACACGTGTATGTCTTTCTGTTGGTGATCCATAATATTTTTAACTTGTTTATCTGTCTATTGGCTGTCATGTAAGCAGCATAAGGCAGAGATTTTTCTTTTCTTTTTTTATTTCACTGCTGTGTTCTCTGTGCCTAAAATGATGTTTGGCACATAGTAGGTGTTCAATAAATATTTGTTGAATGAATGAATGAGTGAATAAATGAAATTCTTTTTCCTTTTTTTTTCAGTGATCAGAATAGCAATAAACCAATCCTTCGCTTTCTTTAAAGAATATAAAATTCAATTCTGTGTTTTAAATATTCAATATGGAACTTCCAGAAATATGTAACAATCCATCGTAGGAAAATTTCACCATAGGCTTATGCCTCAGGAGGGCTGCATAACCCCTACTCACCATCTGGTAGATACATAATCAGTGTATGGTGGCTGTGACCTTAATTCTCTTGCAAGTCCAAAATCAGCAATTTTCACAAGCTCTGGACCCATACAAAGAAGGCAAGTTTTCTGGTTTCATGTCCCTATGAAAAAAGCCTTGATGATATACGGAGAAAAAAAAATACAGTAAATCATTACGTTTAAACATAGCTTTATTTGATTTATAAACAAAATATAAATGAACCCCCTCTTTTATAATTCAAAACATCATCTTAGGAAAAAAGTAAACCATATTTATTGTCTAAGAAGTAAATGGGGCGTAGGGACCCTGCTTTTAAAATGCTTTGGCAAGAAAGTTCACACAGTGTATGAGATAATTAAAAATAACCACCCATTTAACATTTATTTTTATTTGTGACTCCAGTGGGTGTTCAGGCACTGGGCTAGGTATTACCACACTATGATTATCTCCATTCATTTGCACAACAACCTGAAGGAGGTACTGTTATCACTATTGTGCAATAGAGGAGGAGGTTGAGGGCCAGAGTGAAGTCACCTAATTAACGTGTGAGAAGTGTTTTTGTTTTTAAGATAGGTCTTGCTCTGTTGTCCAGGCCAGAGCGTAGTGGCTCGATCTCGGCTCAAGCAATCCTCTCGGCCCACTAAGTAGCTGGGACCACAGGTGCATGCCACCACTCCCACCTAATTTTTGGTATTTTTGATAGAGACAGGGTTTTGCCACGTCACCCAGGCTGAGAAGAGCACTTTTTAATCAGGCTTGAGTCAGTGCAGCTGACTTCTTGAGAAAAATCACTTGTTTAAAAAGTCCATTCAATAAAAATGGAACTCCACACATCAGAACTAATTTCTTCATTTAAAATTATTTTATCTAATGTTCAGTTTTCCTCAATAGCTGTGTCGTTGCAAAATCCCAATAATTATAATGTTTATATTAGCAATTCAATCTATAAAATAAATGGTTATGAAGCTAAAAGGGAAACCAAAGAAAATGAGGCAGAAAGCCCAGTGGGGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTATACTAAAAATACCAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAACCCAGGGGGAAAAGAACAAACATTAAAGCCCTCCTGGCAGATGAGATTTGTCTTAAGGGAGGCTTTTTCTAAGGGCAGTCTACAGCATTCTGGTTATATCCAAATGGCTTGGGTTCCAAAGGCCTTGGGAGGCAGGGAGACTGCAGGTGATCACTTGAAGAGGGTTTTCATGTAGCTTTGGAGCTGGGAAGACTTTCTTTTATCTTTTTCTTTTTTTTTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGGAGTGTAGTGGCGCAATCTGGGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGGATTACAGGCGTCTGCCACCACACTCGGCTAATTGTTTGTATTTTTAGTAGAAACTGGATTTTGCCATGTTGGCCAGGGTGGTCTCAAACTTCTGACCTTGTGATCCACCTGCTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGGCCAGCTGGGGTTGGGAAGCCTTTTTAAGCCTAAATGTTTTTAATCACTTCAAAGCCAGAGTGGGCTCTGTTTGTGACATCTGTTTAACAGTTTTGTAATCTGAGTTTATCCAGTACTTCTTACTCTAAATAGTAAGTAACATCCATTTCACTATGTCCAAGAGACATTCAGATACTTTTGTAATGTAACGACAGGAATGGGACCATGTGATGCACAGCAGAGTGACACTAATCCATAAAGTCTTAGAGAACTAAACCAATTACATATTTGTACAGCTGAGGTTTTCCCCATCCTAATATACATATATTAATAATTCA | pathogenic | 105,827 |
Mutation found at chromosome 6 position 10808907, gene MAK (male germ cell associated kinase): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Retinitis_pigmentosa'] | CATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAAAAAAATCCTGCTGGCCCTGGCATCTCCATCAGGGCTACTCTCAGTCAGACCCTCCATGTAACATTCCTTTCTCTCCCCATCTCCCCCAACTCCCTGCCCCCTTTCCTATTTTATTTTTCTTTATAATAATGTATCAACATCTGATACACATATATTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCAAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGCACCAAGGCGCGTGACACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGATACACATATGTTCTTGTTTTCACTGGAGTATAATATTCACACAGGCAGAGGCATGTGTTGTAAGAGTAGAGCTTGATGAATTTTCACAAATACAACACATCCACAGACCCAGCACCCAGATCAAGAAAGACATGTTATCGGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACTATGCATAGGAGGCCAAGGTGGGAGGATCACCGGAGGTCAGGAATTTGAGACCAGCCTGGCTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAGACATGCTATCAGCACCCAGAAGGCCCCTTGTGCACTAGTCCAGGCACTACACACATCCCCACCCCATAGAACTGCTTGCTATCCTGACTTTCATGGCACAGATTAGTTTTCTCTTTTTTTGTACTTTGCATAAATGAAATCATATGGTATGTGCTCTTTTTCTCTTTGGGCTCTTGATCTCAACATTGTCTAAGATTCGTCCACATTGCTGCATGCAGTCATAGACCCTTCGTTCTCATTGTTGCAAAGCATTCCACTGGGTGAGTATACGATGCTACTGTTCATGGACGTTTGGGTGGCGTGCAGTAGAGAGGATTCATGTCTTCTGGTGAACACGTGTATGTCTTTCTGTTGGTGATCCATAATATTTTTAACTTGTTTATCTGTCTATTGGCTGTCATGTAAGCAGCATAAGGCAGAGATTTTTCTTTTCTTTTTTTATTTCACTGCTGTGTTCTCTGTGCCTAAAATGATGTTTGGCACATAGTAGGTGTTCAATAAATATTTGTTGAATGAATGAATGAGTGAATAAATGAAATTCTTTTTCCTTTTTTTTTCAGTGATCAGAATAGCAATAAACCAATCCTTCGCTTTCTTTAAAGAATATAAAATTCAATTCTGTGTTTTAAATATTCAATATGGAACTTCCAGAAATATGTAACAATCCATCGTAGGAAAATTTCACCATAGGCTTATGCCTCAGGAGGGCTGCATAACCCCTACTCACCATCTGGTAGATACATAATCAGTGTATGGTGGCTGTGACCTTAATTCTCTTGCAAGTCCAAAATCAGCAATTTTCACAAGCTCTGGACCCATACAAAGCAAGTTTTCTGGTTTCATGTCCCTATGAAAAAAGCCTTGATGATATACGGAGAAAAAAAAATACAGTAAATCATTACGTTTAAACATAGCTTTATTTGATTTATAAACAAAATATAAATGAACCCCCTCTTTTATAATTCAAAACATCATCTTAGGAAAAAAGTAAACCATATTTATTGTCTAAGAAGTAAATGGGGCGTAGGGACCCTGCTTTTAAAATGCTTTGGCAAGAAAGTTCACACAGTGTATGAGATAATTAAAAATAACCACCCATTTAACATTTATTTTTATTTGTGACTCCAGTGGGTGTTCAGGCACTGGGCTAGGTATTACCACACTATGATTATCTCCATTCATTTGCACAACAACCTGAAGGAGGTACTGTTATCACTATTGTGCAATAGAGGAGGAGGTTGAGGGCCAGAGTGAAGTCACCTAATTAACGTGTGAGAAGTGTTTTTGTTTTTAAGATAGGTCTTGCTCTGTTGTCCAGGCCAGAGCGTAGTGGCTCGATCTCGGCTCAAGCAATCCTCTCGGCCCACTAAGTAGCTGGGACCACAGGTGCATGCCACCACTCCCACCTAATTTTTGGTATTTTTGATAGAGACAGGGTTTTGCCACGTCACCCAGGCTGAGAAGAGCACTTTTTAATCAGGCTTGAGTCAGTGCAGCTGACTTCTTGAGAAAAATCACTTGTTTAAAAAGTCCATTCAATAAAAATGGAACTCCACACATCAGAACTAATTTCTTCATTTAAAATTATTTTATCTAATGTTCAGTTTTCCTCAATAGCTGTGTCGTTGCAAAATCCCAATAATTATAATGTTTATATTAGCAATTCAATCTATAAAATAAATGGTTATGAAGCTAAAAGGGAAACCAAAGAAAATGAGGCAGAAAGCCCAGTGGGGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTATACTAAAAATACCAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAACCCAGGGGGAAAAGAACAAACATTAAAGCCCTCCTGGCAGATGAGATTTGTCTTAAGGGAGGCTTTTTCTAAGGGCAGTCTACAGCATTCTGGTTATATCCAAATGGCTTGGGTTCCAAAGGCCTTGGGAGGCAGGGAGACTGCAGGTGATCACTTGAAGAGGGTTTTCATGTAGCTTTGGAGCTGGGAAGACTTTCTTTTATCTTTTTCTTTTTTTTTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGGAGTGTAGTGGCGCAATCTGGGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGGATTACAGGCGTCTGCCACCACACTCGGCTAATTGTTTGTATTTTTAGTAGAAACTGGATTTTGCCATGTTGGCCAGGGTGGTCTCAAACTTCTGACCTTGTGATCCACCTGCTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGGCCAGCTGGGGTTGGGAAGCCTTTTTAAGCCTAAATGTTTTTAATCACTTCAAAGCCAGAGTGGGCTCTGTTTGTGACATCTGTTTAACAGTTTTGTAATCTGAGTTTATCCAGTACTTCTTACTCTAAATAGTAAGTAACATCCATTTCACTATGTCCAAGAGACATTCAGATACTTTTGTAATGTAACGACAGGAATGGGACCATGTGATGCACAGCAGAGTGACACTAATCCATAAAGTCTTAGAGAACTAAACCAATTACATATTTGTACAGCTGAGGTTTTCCCCATCCTAATATACATATATTAATAATTCAGTCCT | CATGCTTCTTGTACAGCCTGCAGAACTGGAAGCCAAATAAACCTCCTTTCTTTACCAACTTCCCAGCCGCAGGTGTTCCTTTACAGCAACACAAAAAAACACACTAAGACACGGACTCCTTTCTTTCAGCCCCCACATCTGATTCATTAGAATCCCACATTTCTCACTACCTGCATGGCCAGCAGGTCCAAGTCACTATCATTTCTGGCCACTCTACAAACTCTGCCCTTGTTTCCTACGACTGCCCTCCTTATTCATTCTGCACTGTGCAGAATTCACGTGTGGCGTGCACCTGTCTCAAGGCTTTTACTCTGCCTAAAAAAAATCCTGCTGGCCCTGGCATCTCCATCAGGGCTACTCTCAGTCAGACCCTCCATGTAACATTCCTTTCTCTCCCCATCTCCCCCAACTCCCTGCCCCCTTTCCTATTTTATTTTTCTTTATAATAATGTATCAACATCTGATACACATATATTCCTTTTTTTTTTTTTTTTTTTTTTTTGAGAAAGAGTCTTGCTCTGTTGCCCAGGCTGGAGTTCAGTGGCGCAATCTCGGCTCACTGCAACCTCTGCCCCCAAGGTTCAAGTGATTCTCATGCCTCAGCCTCCCAAGTAACTGGCACCAAGGCGCGTGACACCACACCCGGCTAATTTTGTATTTTTAGTAGAAACGGGGTTTAGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGTCTCAAGTGATCCCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCTGATACACATATGTTCTTGTTTTCACTGGAGTATAATATTCACACAGGCAGAGGCATGTGTTGTAAGAGTAGAGCTTGATGAATTTTCACAAATACAACACATCCACAGACCCAGCACCCAGATCAAGAAAGACATGTTATCGGCCGGGCCCGGTGGCTCACGCCTGTAATCCCAGCACTATGCATAGGAGGCCAAGGTGGGAGGATCACCGGAGGTCAGGAATTTGAGACCAGCCTGGCTAACACGGTGAAACCACGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGATGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAAACCGGGAGGCAGAGGTTGCAGTGAGCCGAGATCACGCCATTGCACTCCAGCCTGGGCGAGAGAGCGAAACTCCATCTCAAAAAAAAAAGAAAGACATGCTATCAGCACCCAGAAGGCCCCTTGTGCACTAGTCCAGGCACTACACACATCCCCACCCCATAGAACTGCTTGCTATCCTGACTTTCATGGCACAGATTAGTTTTCTCTTTTTTTGTACTTTGCATAAATGAAATCATATGGTATGTGCTCTTTTTCTCTTTGGGCTCTTGATCTCAACATTGTCTAAGATTCGTCCACATTGCTGCATGCAGTCATAGACCCTTCGTTCTCATTGTTGCAAAGCATTCCACTGGGTGAGTATACGATGCTACTGTTCATGGACGTTTGGGTGGCGTGCAGTAGAGAGGATTCATGTCTTCTGGTGAACACGTGTATGTCTTTCTGTTGGTGATCCATAATATTTTTAACTTGTTTATCTGTCTATTGGCTGTCATGTAAGCAGCATAAGGCAGAGATTTTTCTTTTCTTTTTTTATTTCACTGCTGTGTTCTCTGTGCCTAAAATGATGTTTGGCACATAGTAGGTGTTCAATAAATATTTGTTGAATGAATGAATGAGTGAATAAATGAAATTCTTTTTCCTTTTTTTTTCAGTGATCAGAATAGCAATAAACCAATCCTTCGCTTTCTTTAAAGAATATAAAATTCAATTCTGTGTTTTAAATATTCAATATGGAACTTCCAGAAATATGTAACAATCCATCGTAGGAAAATTTCACCATAGGCTTATGCCTCAGGAGGGCTGCATAACCCCTACTCACCATCTGGTAGATACATAATCAGTGTATGGTGGCTGTGACCTTAATTCTCTTGCAAGTCCAAAATCAGCAATTTTCACAAGCTCTGGACCCATACAAAGCCAAGTTTTCTGGTTTCATGTCCCTATGAAAAAAGCCTTGATGATATACGGAGAAAAAAAAATACAGTAAATCATTACGTTTAAACATAGCTTTATTTGATTTATAAACAAAATATAAATGAACCCCCTCTTTTATAATTCAAAACATCATCTTAGGAAAAAAGTAAACCATATTTATTGTCTAAGAAGTAAATGGGGCGTAGGGACCCTGCTTTTAAAATGCTTTGGCAAGAAAGTTCACACAGTGTATGAGATAATTAAAAATAACCACCCATTTAACATTTATTTTTATTTGTGACTCCAGTGGGTGTTCAGGCACTGGGCTAGGTATTACCACACTATGATTATCTCCATTCATTTGCACAACAACCTGAAGGAGGTACTGTTATCACTATTGTGCAATAGAGGAGGAGGTTGAGGGCCAGAGTGAAGTCACCTAATTAACGTGTGAGAAGTGTTTTTGTTTTTAAGATAGGTCTTGCTCTGTTGTCCAGGCCAGAGCGTAGTGGCTCGATCTCGGCTCAAGCAATCCTCTCGGCCCACTAAGTAGCTGGGACCACAGGTGCATGCCACCACTCCCACCTAATTTTTGGTATTTTTGATAGAGACAGGGTTTTGCCACGTCACCCAGGCTGAGAAGAGCACTTTTTAATCAGGCTTGAGTCAGTGCAGCTGACTTCTTGAGAAAAATCACTTGTTTAAAAAGTCCATTCAATAAAAATGGAACTCCACACATCAGAACTAATTTCTTCATTTAAAATTATTTTATCTAATGTTCAGTTTTCCTCAATAGCTGTGTCGTTGCAAAATCCCAATAATTATAATGTTTATATTAGCAATTCAATCTATAAAATAAATGGTTATGAAGCTAAAAGGGAAACCAAAGAAAATGAGGCAGAAAGCCCAGTGGGGGCCAGGCGTGGTGGCTCACGCCTATAATCCCAGCACTTTGGGAGGCCGAGGTAGGTGGATCATGAGGTCAGGAGTTTGAGACCAGCCTGGCCAATATGATGAAACCCCGTCTATACTAAAAATACCAAAATTAGCCGGGCATGGTGGTGTGCGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCTGAGATCATGCCACCGCACTCCAGCCTGGGCAACAGAGCAAGACACTGTCTCAAAAAAAAAAAAAAAAAAGAAAGAAAAGAAAAAGAAAACCCAGGGGGAAAAGAACAAACATTAAAGCCCTCCTGGCAGATGAGATTTGTCTTAAGGGAGGCTTTTTCTAAGGGCAGTCTACAGCATTCTGGTTATATCCAAATGGCTTGGGTTCCAAAGGCCTTGGGAGGCAGGGAGACTGCAGGTGATCACTTGAAGAGGGTTTTCATGTAGCTTTGGAGCTGGGAAGACTTTCTTTTATCTTTTTCTTTTTTTTTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGGAGTGTAGTGGCGCAATCTGGGCTCATTGCAACCTCCGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCTGGAATAGCTGGGATTACAGGCGTCTGCCACCACACTCGGCTAATTGTTTGTATTTTTAGTAGAAACTGGATTTTGCCATGTTGGCCAGGGTGGTCTCAAACTTCTGACCTTGTGATCCACCTGCTTCACCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCACGGCCAGCTGGGGTTGGGAAGCCTTTTTAAGCCTAAATGTTTTTAATCACTTCAAAGCCAGAGTGGGCTCTGTTTGTGACATCTGTTTAACAGTTTTGTAATCTGAGTTTATCCAGTACTTCTTACTCTAAATAGTAAGTAACATCCATTTCACTATGTCCAAGAGACATTCAGATACTTTTGTAATGTAACGACAGGAATGGGACCATGTGATGCACAGCAGAGTGACACTAATCCATAAAGTCTTAGAGAACTAAACCAATTACATATTTGTACAGCTGAGGTTTTCCCCATCCTAATATACATATATTAATAATTCAGTCC | pathogenic | 105,828 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 10813661, gene MAK (male germ cell associated kinase). What disease(s) is it linked to if pathogenic? | pathogenic; ['Retinal_dystrophy', 'Retinitis_pigmentosa', 'Retinitis_pigmentosa_62'] | TATGAATAATTAAAATAGCAGATGTCCCTTATTTCCATATAATTAATACATTACTGCTGTTTGCCAATAAAGTGTAGTATATCATTACAGGATTTAGACTTTTAAAAGACCCCAATAGTTTACATATGGTGCAAATAAAAAGTTTTTTTTTAATGTTCTTAAAACATTCTAAACATACCCTTTTTATAAGTTTAAGAAGTGTTCTTAAAATATTTATATGGAATCCTGCATAGCATTTTTGGAAGGCAAATAATTCCTGTAGCAGTTAAGAAAATAAAAAAAACAAAATATAAACTACAGGAGGAGGATGGGTGTGATGGCTCCTGCCTGTAATCCCAGCACTTCCGGAGGCTGAGGTTGGAGGATCACTTGAGTCCAGGAGTTCAAGACCAGCCTGGGAAAAATGGCGAAACCTCATCTCTACAAAAAAGAAAAAAATTAGCTGGGTGTGGAAGCGTGCGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCCATGATGGCACCACTGCACTCCAGCCTGGGCATCAGAGTGAGATCCTGTCTCAAATAATAATAATAATAGCAATAAAATAAAATACAGGATGAGACATGAAGGGAAACTAATGGTGATTTTCCAGTGCCTATGTTCAGAACACAGCAATGGTATGGGACAAACTTTTCTAATTTAGTATCTAAACATCTAGTGATTCTAAACAAATGTTTTTAAAAAATAATCATATTAACTTTTTGGACTAATAATTATTTTGATTTGATAGATATGAAAAACTACATTAATTGAAGTACATAATTCATAGAAAATAGATCAAGTATTAATACTTGCTTTAATTTCATTCACAGAATAGAAACAACTAAATGTAAAAACTAAGGAAAACTATAAAACACTGCTCCGTGGGTGCTACAAACTATTTAAGTGTTAATAATTGGTCATGCTAGATCAAAATAATCTAATCTTTTCCAAAAGAAGGTCCTTTTTTTTTCATTTCCACGATAAAATTAGGGAGAATGAGGTTGCAAGATGGGTATATGATGACTGAGACTAAAGGCTGATGATGATTAAACTGTTAAAAAATTCTGCTGTGGTGGAAGATAATTATAGATTATAGAAATTCTATTTTTTTATTTTTTGAGATGGAGCTTCGTTCTTTTTGCCTAGGCTGGAGTGCAATGCCACAATATCAGCTCACTGCAATCTCTGCCTCCTGCGTTCAAGCGATTCTCCTGCCTCAGACTCTCAAGTAGCTGGGATTATAGGCGCGCGCCACCAAGCCTGGCTAATTTTTTACATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAAGGTGATCCCCCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCCGGCCTGGTATGTATGTATGTTATGTATTTTTATATATATATATATATATATATATATATATATATATATATATATATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCAATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTTAACAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCGTTTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACACACGTGAGCCACCGTGCCAGCCAGAAATTCCATTTTATACAGAATCACAGAAATTGATAAAGTTTTTAAATAAAAATGTCAGTGTGTATAGGCACATACTCCAGATTCATAGTTATCCAATATAACAGTTATTTAACAGTTTAATAAATTTGTATGCACAATCTGGACAGTAATCTAAAGAGGTAGGGAAATTAAACTTAAAAGAAACCTACCATGTTTATGGATAAAAGCCAGCCCTTGCAATATTTGATACATAATATTTCTGATGACTGATTCAGGGAACAACTTGTTTCTGTAAAGAAATGAACAGTCACATAATTCTGTTAAGCAACCAGCCAACCAATCCAAAGAAGGTTTATATTCCCCCTGCCTTGGAGCCTCTACTGGCCTCACGATACTGGTTAAACCTATGATTTATAGATTTATACTCTTAAAGCTCACACATTTAAAACATGAAAATTAGATTTTTTTTTGTTTTGATGTGAGGTAAAAACTCAAATCCAAAACTGAATATATTGCACACATATTAAATAGCTAATTTTTTTTTTTCTTTTGAGACAGAGTTTCACTCTTTGTTGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACGATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGCGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGCACCTGGCCTAAATAGCTAAATTTTAAACTGTCCCAAGAAGAGCAAAGCAAGTTGAAAAACTGAATTACTAACAGATAAGCCAAGCATGCAAATCTGTATTATGCAGGCTTGAAGAATTTGAGAGATGGCCGGATGTGGTGGCTAATGCCTATAATACCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTAAGCCCAAGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTTGTGTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTAGCGCATGCCTGTAGTCCAGCTGCTGGAGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAATTCGAGGCTGCAGTGAGCTGTGACTGTGCCACTCCACTCCAGCCTGGTGACAGAGTGAGATCCTGCCTCCAAAAAAAAAAGCGGGGGGGAAATAAATTTAGAGATATAAATAAATGCTTCAGTTCTATTCTGCATATTGGTGTTGTCCAGTAGAAATATAAGAGCCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGAGGTCAGGAGTTCGAGAGCAGCCTCGCCAACATGGTGAAACCTCATCTCTACTACAAATACAAAAATTAGCTGGCGTGATGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAAAATCGCTTGAACCCGGAGGGTGGAGGTTGCAGTGAGCTGAGATTACACCACTTCACTCCAGCCTGGGTGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATAAAGAAAGAAATATATATGAGAGCCACTTGTGTACTTAACATCATTTTTCTAGCAGCCATGTTAAAATAAATCAAACAGGTAAAATTAATTTTTAACAATATATTTAATTTAACCTAATATATGCCAAATATTATTTCAACATGTAATCAGTATAAAAATGAGCTGACTGTACCACTGTACTCCAGCTTGGGTGACACAGCAAGACTATGCCTCTAAAACAATGTTTTTTTAATTATTTATTTTTAAAATTTTACCTTTTTAATTTTTATTTTTTGAAAAAGAGATGCGGGCTGGGTGCGGTGGCTCCCCCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCCCTTGAGTTCAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGGCACCGAGGCAGGGGAATTGCTGGAGCCCAAGAGGTCGAGGCTACAGTGAGCCATGTTTGCACCACTGCACTCTGGCCCTCCAGCCAAGGTGAAAGAGCAAGACCCTGTCTCTGAAAAAAAAGAGAGACACATGGTCTCGCTATGTTGCCTAGGCTGGTCTCAAACTCCTGGGGCTCAAGCAATCCTCCC | TATGAATAATTAAAATAGCAGATGTCCCTTATTTCCATATAATTAATACATTACTGCTGTTTGCCAATAAAGTGTAGTATATCATTACAGGATTTAGACTTTTAAAAGACCCCAATAGTTTACATATGGTGCAAATAAAAAGTTTTTTTTTAATGTTCTTAAAACATTCTAAACATACCCTTTTTATAAGTTTAAGAAGTGTTCTTAAAATATTTATATGGAATCCTGCATAGCATTTTTGGAAGGCAAATAATTCCTGTAGCAGTTAAGAAAATAAAAAAAACAAAATATAAACTACAGGAGGAGGATGGGTGTGATGGCTCCTGCCTGTAATCCCAGCACTTCCGGAGGCTGAGGTTGGAGGATCACTTGAGTCCAGGAGTTCAAGACCAGCCTGGGAAAAATGGCGAAACCTCATCTCTACAAAAAAGAAAAAAATTAGCTGGGTGTGGAAGCGTGCGCCTGTAGTCCCAGCTACTAGGGAGGCTGAGGTGGGAGGATCACCTGAGCCCAGGAAGTGGAGGCTGCAGTGAGCCATGATGGCACCACTGCACTCCAGCCTGGGCATCAGAGTGAGATCCTGTCTCAAATAATAATAATAATAGCAATAAAATAAAATACAGGATGAGACATGAAGGGAAACTAATGGTGATTTTCCAGTGCCTATGTTCAGAACACAGCAATGGTATGGGACAAACTTTTCTAATTTAGTATCTAAACATCTAGTGATTCTAAACAAATGTTTTTAAAAAATAATCATATTAACTTTTTGGACTAATAATTATTTTGATTTGATAGATATGAAAAACTACATTAATTGAAGTACATAATTCATAGAAAATAGATCAAGTATTAATACTTGCTTTAATTTCATTCACAGAATAGAAACAACTAAATGTAAAAACTAAGGAAAACTATAAAACACTGCTCCGTGGGTGCTACAAACTATTTAAGTGTTAATAATTGGTCATGCTAGATCAAAATAATCTAATCTTTTCCAAAAGAAGGTCCTTTTTTTTTCATTTCCACGATAAAATTAGGGAGAATGAGGTTGCAAGATGGGTATATGATGACTGAGACTAAAGGCTGATGATGATTAAACTGTTAAAAAATTCTGCTGTGGTGGAAGATAATTATAGATTATAGAAATTCTATTTTTTTATTTTTTGAGATGGAGCTTCGTTCTTTTTGCCTAGGCTGGAGTGCAATGCCACAATATCAGCTCACTGCAATCTCTGCCTCCTGCGTTCAAGCGATTCTCCTGCCTCAGACTCTCAAGTAGCTGGGATTATAGGCGCGCGCCACCAAGCCTGGCTAATTTTTTACATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTAAGGTGATCCCCCCCCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCCGGCCTGGTATGTATGTATGTTATGTATTTTTATATATATATATATATATATATATATATATATATATATATATATATAAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCAGCTCACTGCAACCTCCACCTCTGGGGTTCAAGCAATTCTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCACGCCCAGCTAATTTTTGTATTTTTTTTTAACAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCGTTTGACCTCAGGTGATCCGCCTGCCTTGGCCTCCCAAAGTGCTGAGATTACACACGTGAGCCACCGTGCCAGCCAGAAATTCCATTTTATACAGAATCACAGAAATTGATAAAGTTTTTAAATAAAAATGTCAGTGTGTATAGGCACATACTCCAGATTCATAGTTATCCAATATAACAGTTATTTAACAGTTTAATAAATTTGTATGCACAATCTGGACAGTAATCTAAAGAGGTAGGGAAATTAAACTTAAAAGAAACCTACCATGTTTATGGATAAAAGCCCAGCCCTTGCAATATTTGATACATAATATTTCTGATGACTGATTCAGGGAACAACTTGTTTCTGTAAAGAAATGAACAGTCACATAATTCTGTTAAGCAACCAGCCAACCAATCCAAAGAAGGTTTATATTCCCCCTGCCTTGGAGCCTCTACTGGCCTCACGATACTGGTTAAACCTATGATTTATAGATTTATACTCTTAAAGCTCACACATTTAAAACATGAAAATTAGATTTTTTTTTGTTTTGATGTGAGGTAAAAACTCAAATCCAAAACTGAATATATTGCACACATATTAAATAGCTAATTTTTTTTTTTCTTTTGAGACAGAGTTTCACTCTTTGTTGCACAGGCTGGAGTGCAGTGGCGCAATCTCGGCTCACTGAAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCAAGTAGCTGGGATTATAGGCATGCACCACGATGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCGCCATGTTGGTCAGGCTGGTCTTGAACTCCTGACCTCAGGCGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACGGGCATGAGCCACTGCACCTGGCCTAAATAGCTAAATTTTAAACTGTCCCAAGAAGAGCAAAGCAAGTTGAAAAACTGAATTACTAACAGATAAGCCAAGCATGCAAATCTGTATTATGCAGGCTTGAAGAATTTGAGAGATGGCCGGATGTGGTGGCTAATGCCTATAATACCAGCACTTTGGGAGGCCAAGGTGGGAGGATCGCTTAAGCCCAAGAGTTCAAGACCAGCCTGGGCAACATGGTGAAACCTTGTGTCTACAAAAAATACAAAAATTAGCCAGGTGTGGTAGCGCATGCCTGTAGTCCAGCTGCTGGAGAGGCTGAGGTGGGAGGATCACTTGAGCCTGGGAATTCGAGGCTGCAGTGAGCTGTGACTGTGCCACTCCACTCCAGCCTGGTGACAGAGTGAGATCCTGCCTCCAAAAAAAAAAGCGGGGGGGAAATAAATTTAGAGATATAAATAAATGCTTCAGTTCTATTCTGCATATTGGTGTTGTCCAGTAGAAATATAAGAGCCGGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGAGGTCAGGAGTTCGAGAGCAGCCTCGCCAACATGGTGAAACCTCATCTCTACTACAAATACAAAAATTAGCTGGCGTGATGGCACATGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGAAAAATCGCTTGAACCCGGAGGGTGGAGGTTGCAGTGAGCTGAGATTACACCACTTCACTCCAGCCTGGGTGAAAGAGCGAGACTCCATCTCAAAAAAAAAAAAAATAAAGAAAGAAATATATATGAGAGCCACTTGTGTACTTAACATCATTTTTCTAGCAGCCATGTTAAAATAAATCAAACAGGTAAAATTAATTTTTAACAATATATTTAATTTAACCTAATATATGCCAAATATTATTTCAACATGTAATCAGTATAAAAATGAGCTGACTGTACCACTGTACTCCAGCTTGGGTGACACAGCAAGACTATGCCTCTAAAACAATGTTTTTTTAATTATTTATTTTTAAAATTTTACCTTTTTAATTTTTATTTTTTGAAAAAGAGATGCGGGCTGGGTGCGGTGGCTCCCCCCTGTAATCCCAGCACTCTGGGAGGCCAAGGCAGGTGGATCCCTTGAGTTCAGGAGTTCAAGACCAGCCTGGGAAACATGGTGAGACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCACGTGCCTGCAGTCCCAGCTACTTGGGGCACCGAGGCAGGGGAATTGCTGGAGCCCAAGAGGTCGAGGCTACAGTGAGCCATGTTTGCACCACTGCACTCTGGCCCTCCAGCCAAGGTGAAAGAGCAAGACCCTGTCTCTGAAAAAAAAGAGAGACACATGGTCTCGCTATGTTGCCTAGGCTGGTCTCAAACTCCTGGGGCTCAAGCAATCCTCC | pathogenic | 105,830 |
Regarding the variant at chromosome 6 and position 10817956, affecting gene MAK (male germ cell associated kinase): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Retinitis_pigmentosa_62'] | TACAGTATATATATATATATATATATATATATATATATATGTATGTTTTCTTTTTTGTTTGAGATGGAGTCTTCTTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTCCCTCCTGGCCAACGCAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGCCTCCTGGGTTCAAGCAATTCTTCTGTCTTACCTTCCCGAGTGGCTGGGATTATGGGTGGCCTCAACCTCCTGGGCTCAAGCAATCTTCTCACCTCAGCCTCCAAGTAGCTAGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGAGTCTCACTATGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCGCAAAGTACTGGATTAAAGGCAGGAACTACCACATCCATCCAGATTTATATATATTTCAAAAATAGATGAAAATTTAATATTTCATGAATTTACATGTATTTCATTTTTTTCTTCAACAAGGGTATCTTGATATTTCATGTAAGTATATATCATTTCAATATTTTAAAGGACAAAATTTATTAGAGGCTGAAAATTAAGATTACCCATAATCCCACCACCTGATTAAGAAACTTTTAATTTTTCAGTATTCTAATCCAGTCCTAATCCATCTGCATACATAACTTTTATATTAGGAATGAAAGTCACATACACACAATTTGGTTTGTTTTTTCACTTACAAGCGTTTTCATAACCCTTATAATTATCACCTTTAATGGTAATAATTCCATCAATATTATATACAATAATTACCAACCTATTTTCACACTAATTATTTATTTTAAATAGTTCAAAAAGTGAAGCTTAGTATAGCCATTTAACAGAATATATTATTTATAACTATAAAGACTAAGTATCCACATAAAAAATACTTGTAAGTAAATTAATCAAATAAAAAACTTTGTCCCACTAAAATTACAACTAAGTAAAAAGGCGTGCATGTCTATATAGAAGGCCTAGAAGGGACTCTGAAAAAGTAAAAACTGATTTGAGGGGCAGAAATTTACTTTTATTTTAATTGACATTAATGTTATGATGATTTCGGCCTGGAACATAAGAGGCATTCAATAAATATGTTTTGAGAAAGGGAAAAATATGATTAAAGAATAATTCAAGTAACATCCTCAGACCTTGAGCGAGAGTGTGTGTGTGTGTGTGTGTGTGTAAGAATCAAAGAGAAATCAACATCATTACTTCGGAAAATTATTTCTAAGTATTTCAGAGTTTGTTGTTGAACATTTCTCACTTTAAAAGCAGGCAAAATGGATGTTAATCTCCCAGACATGACCAGAACCACCACCAAAACATTATCTCCCCAAGCCCAGGGCGGAAGACCAAAGCTCTCCCTTTACAGATTCTGCCCACACATATTTAAAAATTGTGAATTTCCTTGGGATTGGTAACACATCAAGTCTTATCACTGACTTGTGCATTCTAATGACTGAGCTTTTTAGATCCTTTCTTGAAAGCAACTTCATTCCTTTCTCCATTCTTTCATTAACCTTCACAAGATGCTTGGGAGAGCAACCAAGATAATTTTCTCAATAATGCCCAAGGCCAGCTTTATTATTGAGTAATAAACTATACATAAATTTGTATTTTAAAAAGCATAAATAGATAGTATGTGTATTTATATGAGATACTGGCCTTCACTTTCAAGGATTTACAACAGAAAAATGCTGGCTATGTCACAGCTGGTTCTTCAGTGTTAAATGTTACCCTTTGATAAAGGTAACAGAACTGGTTAATTTAAATTTACCTTTTGGAGCAATCAATCTTTCTCTCATAAAGTATGACATATCAAAAGGATCCAAAGAACTCATGGAGAGAATAACAGGGAAAAACATGAATAAAAACATACCTGTCTTTCATTAATTGATAGAGGTTTTCTTTCATATATTCAAATATAAAATAAAGATGGTCATTTTCTCTGATAACTTCTTTCAATTTAATAACATTGGCATGATTAAGTTTCTTCAGAGACTGAAAAATAACAAATATGCCTTAAAATTTCTTAAAAAAAACTTACAGAATTTGGCAAAATTGCATCAATGCTAAGTGTAATAATTACCTTATGTAATTTTCCATTTCTCCTGGGTTCATTAATTAATTACATTTTAATATCTACATAATTGCTTTAAGTAATGAACGTTAAGTGCAAACAATAAATCAAGCCAACAATAGCTATTAAACATTTCAATCTGTTACGTTTTTCCCTTGGTTTATAAATAGGTCTAACTTTTGTCTGACTTAACCATGCAAAGGTATCCAAAATTGTATCCAAGTCTTTAAGCATAAAATCTAAGGAAATGGTATGTAGTAATTTAAAAAGTTGTCTTTGGTGGCTGAGCGTGGTGGCTCTTGCCTGCTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGCAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTGTAGTCCCAGCTACTCGGGAAGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCACAAAAAAAAAAAAAAAAAAGTTGTCTTTGCATAATATGATTTTAAGATGCTCTTTTAAAAGTGAAAGTGAATTTTCAAATGTGAGGATATAATTATACGCTGTTCTCCACTGACATCAGAACCAGAAGAAATGAGAAATTAATTTAGGAATATAAAGGAAAAACAAACAAAATTATCTTCAGAATGCTTCCCACAGAGAATAAAATCATCTTAACTACGGTCCTCAGGTAGTGTTAAGGCCTTCTCAGGTTCTTTTCATCTTTAGGATTTTACCTTAACTTCTCTCAAGTTCATGCATTCATCCCAAGAATAGAACTTTCTCTTCATCCTAAAATAAATTAGGGAAAGTTTAGTGTTCAGGGATTGAGGATTCAAAGACACACATTACACTGTTGGCTTTCTTACTCCACTACTGGTTCACTTTGGGCGAGCTATCTTTCTCTGTCCTCATCCTTATAAGGAAATCACCTCCTATACCTCAAGGCTACTTGGTAGGCCTACGTCACATCCAAAATTCAGCTTTAATCAAAAGTGAAAAAATTACCATTAATCTTCTTTTCTGGGTGAGTTCTTAACATTTCTCTAATCAGTTTAATTGTGCCTTTCTTAAAGGGTCCTTTTCAAGATTCTCTCTTTTTAGAACTTAAGAGGCCCATAAAGTTAAATGTCTCCCTACTTAAATGATTTAAGTTGGCAAAAATTCAGAAGTAACTACAAACGTTAGAAATGGCTTTCTTGGCCGGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGTGGGCGGATCACAAGGTCAGGAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGATGAGAAATGGCTTTCTTGAATTTTGTTCTTTACTTCCCCTCTTTCATCCCAATGTTGGTTTCTATTAGAGATAAATATACCAAAAGTGTATTTAAGAGTAAAAACTATTTCCACTATATACACCAGTTAGTTGTTGTTTTTATATGAACATGTGTTTTTATATGAACAGATTTTTAGTCACCATACAAAACAGGGGATAATAAACAGGATTCATGGCCGGGCGCGGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTCGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACT | TACAGTATATATATATATATATATATATATATATATATATGTATGTTTTCTTTTTTGTTTGAGATGGAGTCTTCTTCTGTTGCCCAGGCTGCAGTGCAGTGGTGCAATCTTGGCTCACTGCAACCTCTCCCTCCTGGCCAACGCAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTGGCCTCCTGGGTTCAAGCAATTCTTCTGTCTTACCTTCCCGAGTGGCTGGGATTATGGGTGGCCTCAACCTCCTGGGCTCAAGCAATCTTCTCACCTCAGCCTCCAAGTAGCTAGGACTACAGGTGTGTGCCACCACACCTGGCTAATTTTTTAATTTTTTTGTAGAGATGGAGTCTCACTATGTTGCCTAGGCTGGTCTCAAATTCCTGGGCTCAAGTGATCCTCCCACCTCAGCCTCGCAAAGTACTGGATTAAAGGCAGGAACTACCACATCCATCCAGATTTATATATATTTCAAAAATAGATGAAAATTTAATATTTCATGAATTTACATGTATTTCATTTTTTTCTTCAACAAGGGTATCTTGATATTTCATGTAAGTATATATCATTTCAATATTTTAAAGGACAAAATTTATTAGAGGCTGAAAATTAAGATTACCCATAATCCCACCACCTGATTAAGAAACTTTTAATTTTTCAGTATTCTAATCCAGTCCTAATCCATCTGCATACATAACTTTTATATTAGGAATGAAAGTCACATACACACAATTTGGTTTGTTTTTTCACTTACAAGCGTTTTCATAACCCTTATAATTATCACCTTTAATGGTAATAATTCCATCAATATTATATACAATAATTACCAACCTATTTTCACACTAATTATTTATTTTAAATAGTTCAAAAAGTGAAGCTTAGTATAGCCATTTAACAGAATATATTATTTATAACTATAAAGACTAAGTATCCACATAAAAAATACTTGTAAGTAAATTAATCAAATAAAAAACTTTGTCCCACTAAAATTACAACTAAGTAAAAAGGCGTGCATGTCTATATAGAAGGCCTAGAAGGGACTCTGAAAAAGTAAAAACTGATTTGAGGGGCAGAAATTTACTTTTATTTTAATTGACATTAATGTTATGATGATTTCGGCCTGGAACATAAGAGGCATTCAATAAATATGTTTTGAGAAAGGGAAAAATATGATTAAAGAATAATTCAAGTAACATCCTCAGACCTTGAGCGAGAGTGTGTGTGTGTGTGTGTGTGTGTAAGAATCAAAGAGAAATCAACATCATTACTTCGGAAAATTATTTCTAAGTATTTCAGAGTTTGTTGTTGAACATTTCTCACTTTAAAAGCAGGCAAAATGGATGTTAATCTCCCAGACATGACCAGAACCACCACCAAAACATTATCTCCCCAAGCCCAGGGCGGAAGACCAAAGCTCTCCCTTTACAGATTCTGCCCACACATATTTAAAAATTGTGAATTTCCTTGGGATTGGTAACACATCAAGTCTTATCACTGACTTGTGCATTCTAATGACTGAGCTTTTTAGATCCTTTCTTGAAAGCAACTTCATTCCTTTCTCCATTCTTTCATTAACCTTCACAAGATGCTTGGGAGAGCAACCAAGATAATTTTCTCAATAATGCCCAAGGCCAGCTTTATTATTGAGTAATAAACTATACATAAATTTGTATTTTAAAAAGCATAAATAGATAGTATGTGTATTTATATGAGATACTGGCCTTCACTTTCAAGGATTTACAACAGAAAAATGCTGGCTATGTCACAGCTGGTTCTTCAGTGTTAAATGTTACCCTTTGATAAAGGTAACAGAACTGGTTAATTTAAATTTACCTTTTGGAGCAATCAATCTTTCTCTCATAAAGTATGACATATCAAAAGGATCCAAAGAACTCATGGAGAGAATAACAGGGAAAAACATGAATAAAAACATACCTGTCTTTCATTAATTGATAGAGGTTTTCTTTCATATATTCAAATATAAAATAAAGATGGTCATTTTCTCTGATAACTTCTTTCAATTTAATAACATTGGCATGATTGTTTCTTCAGAGACTGAAAAATAACAAATATGCCTTAAAATTTCTTAAAAAAAACTTACAGAATTTGGCAAAATTGCATCAATGCTAAGTGTAATAATTACCTTATGTAATTTTCCATTTCTCCTGGGTTCATTAATTAATTACATTTTAATATCTACATAATTGCTTTAAGTAATGAACGTTAAGTGCAAACAATAAATCAAGCCAACAATAGCTATTAAACATTTCAATCTGTTACGTTTTTCCCTTGGTTTATAAATAGGTCTAACTTTTGTCTGACTTAACCATGCAAAGGTATCCAAAATTGTATCCAAGTCTTTAAGCATAAAATCTAAGGAAATGGTATGTAGTAATTTAAAAAGTTGTCTTTGGTGGCTGAGCGTGGTGGCTCTTGCCTGCTATCCCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACCTGAGGTCAGGAGTTGCAGACCAGCCTGGCCAACATGGTGAAACCTTGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGACACACACCTGTAGTCCCAGCTACTCGGGAAGCTGAAGCAGGAGAATCACTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGTAAGACTCTGTCACAAAAAAAAAAAAAAAAAAGTTGTCTTTGCATAATATGATTTTAAGATGCTCTTTTAAAAGTGAAAGTGAATTTTCAAATGTGAGGATATAATTATACGCTGTTCTCCACTGACATCAGAACCAGAAGAAATGAGAAATTAATTTAGGAATATAAAGGAAAAACAAACAAAATTATCTTCAGAATGCTTCCCACAGAGAATAAAATCATCTTAACTACGGTCCTCAGGTAGTGTTAAGGCCTTCTCAGGTTCTTTTCATCTTTAGGATTTTACCTTAACTTCTCTCAAGTTCATGCATTCATCCCAAGAATAGAACTTTCTCTTCATCCTAAAATAAATTAGGGAAAGTTTAGTGTTCAGGGATTGAGGATTCAAAGACACACATTACACTGTTGGCTTTCTTACTCCACTACTGGTTCACTTTGGGCGAGCTATCTTTCTCTGTCCTCATCCTTATAAGGAAATCACCTCCTATACCTCAAGGCTACTTGGTAGGCCTACGTCACATCCAAAATTCAGCTTTAATCAAAAGTGAAAAAATTACCATTAATCTTCTTTTCTGGGTGAGTTCTTAACATTTCTCTAATCAGTTTAATTGTGCCTTTCTTAAAGGGTCCTTTTCAAGATTCTCTCTTTTTAGAACTTAAGAGGCCCATAAAGTTAAATGTCTCCCTACTTAAATGATTTAAGTTGGCAAAAATTCAGAAGTAACTACAAACGTTAGAAATGGCTTTCTTGGCCGGGAACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTTGAGGTGGGCGGATCACAAGGTCAGGAGTTCAAGACCATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAACAATTAGCTGGGCGTGGTGGCAGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGATGAGAAATGGCTTTCTTGAATTTTGTTCTTTACTTCCCCTCTTTCATCCCAATGTTGGTTTCTATTAGAGATAAATATACCAAAAGTGTATTTAAGAGTAAAAACTATTTCCACTATATACACCAGTTAGTTGTTGTTTTTATATGAACATGTGTTTTTATATGAACAGATTTTTAGTCACCATACAAAACAGGGGATAATAAACAGGATTCATGGCCGGGCGCGGTGGCTCACACCTGTAAGCCCAGCACTTTGGGAGGCGGAGGCGGGTGGATCATGAGGTCAGGAGATCGAGACCATCCTCGCTAACACAGTGAAACCTCATCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCCCAGCTACTNN | pathogenic | 105,832 |
Chromosome 6, position 10874330, gene GCM2 (glial cells missing transcription factor 2): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | benign | TTGGCAATGGAAGTTCAAAGGAAAAAGTAACCAATGAGTGTACTAAGCATCTTTCCCTTTAAAAAAAATTGGTTGGTTAGAAACTCATAGGAGTGTACTCATACCTACTCAATCTTTTGTTAAGTACTGCATGCATTTATGATGTTGGAGTATTAGGCTTTTATGAATTAGTTGGATGATACAGAATGCTCAATGATTTAAAATGGCATCTGACTGACTACAATTTAGTTATACAAATTGATTATTCTATGCAAATTTGAGGATGATACTTCTAGGCACCCCCCCCCAAAATATATTGCTCCTGTAGTTTATCTTTATTTGAAAACAGAATATTTTCACTAAAGTGTGTGTGTGAACACTCCAAATGTTTTGAAAAGGCTTTCTGTTATGACAGAGTACAACAGCAGGTATTTTGCAAATAAACTACAAAACAGTCAAACTATTTAATACTTGTTTTATTTATTTATTTATTTATTTATTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTAGCACAAAGATGGCTGACTGCAGCCTTGACCTCGTGGGTTCAAATGATCCTCCCACCTCAGCTTCCCAAGTAGTTAGAACCACAGGCCCACTGCCATGCCCTGGGGTCTCTCTCTGTTGCCCAGAGATGAGGGCTCTCCCTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCTCTCAGCCAATTTAATAAGTTTTAATGTTTCATAACAACTGTTTCCCAGGTCATAATATGAACAATTTTTTTCCTATTTCTGTTTTGAAGTCAGGCAAGAATTAGCTTCATTTAAAATGTCCTTATTACATTTAATTGAACATTATCAATTACCTTTATGAAGAATAACAGAGGAACCGTAAAGCTGTATTTCAGCAAAACATTTTAATTATAATTCTGAAACCTAATCAGAAAAAAAATGTATTTAGTACAATGGTAATCCATTAAATACAACTCATCATTGTTAGGCTGTCTCTGTTATGGAAACTATCATGTTATGAAAAGGTTATGAAAAGGTTAGGAAACTATCATGTTATGAAAAGCTAATATTGAATCTTTTAAAAACAACTGAACTTTACCATTGCTAGAGATTTTTTGAAAAGCTGTAGATACACACGTTGGAGATAAAACAATCAAAATTACTTCCTGAAGCTAGTTTAACAGGTTCTAAATGCTAAACAAAAATTTCATGAAATGACTCAGGTGATAAGATTGTAAAAATTTCTTCCTGAAGCTATTTTGGCAGCCTCTAGGGATGTGAAATTCCCTAAGGTGCTCTAATGGGAAAAGTCCTAGAATAAGAACCAGAATCCTTGACTTCTACTCCTGCTAATAAGCTAAGTGAACTTAGGTCAGTATTTAACCTCCTACAGTTTGCTTATTTGTTCATTTGAGAGACTCACACTTTCCTCACTACTTCTATGTATTGTAGCCAGTTTCAAAATGCTGTGTGAAATTTCCCATATTATCTAATCATTTCCAACTGATTATTTTCTCAGTTACTCAGAATTTTTACTACTATCTGTGTTTCTTTGCACACAAGGTGAATCTCCCAACTCAATAAGAGATCATTGCCATTTCACATTTCCCTGCCTCCTGCCTGCATGCACACTGCTATTATGTCCCCTGGATTGTCTTTCAAAAATCCTCATTGTTGTAGGTAAAGAAGGGACCCACTCTGTCTGAGTAACTGACTGCGGAGCCCAGCCCAGACAGACACACATCCCAAGTCTCTGCTTCATCTGTCCTAGAGGAAACTGGCTCGTGGGGAATAGCCACAGTGGGTCTGATGGCCCGGCAATCTCCTGCAATTTTCATAGGAGGTGGCCCTGAAGGAGAGGCTGCCCTGGTGACTGTCACCGGAGGACCCCAGGGTTCTGGATAGACAGACATCCCAGTATCTTCAGGAGCATAGTTACAGCTCGAAAGGCTCTTCACCTCTCGCACACTGTCACTGTATTTCATAGCAGGGGGCTGGTAGGCCTGGTAGGACACTTTAGTGGTGGTGGTGATCACGGTTTGTAGGGCAGGGGCACCTGGTGGTGGAGTCGTGAGGTACCTGCAGGGAAGCTCTGGGTTATAATAAGGGCGAGTGGCCATGGCCTGAAACTGCCCATGGTTAGTCCTTTCCACAAGGCTGGGTTTTCCAAGAGCTGGTTTCCAGCCATGCTGTTTGTTGGTGAAATCAAAGCTTCTCTCATAGCTGCTGTATGAATTGACATTACATTGTAGTGTGTTCAGATGAACCCAGTCTGTGTCATTAGGGATACTGGTGGAATCCTTATAAAGGGTGGGATATGGGCTTGAATTTGTATAACCAGGGTTTGCCAATTCATAGCTGCAAGGTGGCCTAGGCAAATAGATTCTTGGGCTTGAGTATTTCTGGAAGGGTGGCATTTTGTCTCCTTGAAAGGTGGCTAGGTCACAGGTAGCTTTGTAAACATCAGACTTTGGGAAGGAAGGGCAAGGCTGCCCTGGAATAGGGAAGCTGGTTTCAGTAACTATATCAAAGTCTTCTGGATTTTCCAAGGGAGGTATGTTGCTGAAATGACCACTGCTGTCTTGATTTTCTTCTGCCTAGAAAAATGATACAAACATAGACACACGCTATGTAAATCGTGTGGACACCCTCACCTGTAACAATAGCCTAGAAGTAAGTAAAAACAGACATCCATGTGCTGGGCTCTGTGTTGTGAACATGGCACTGCTCAGGTACGTGATGTAAGCACGTGGTCCAGGGGTTGCTAAGCTTGGGCTCACTCAGACATAAATACCAACGACTGAATGACAAAGGTCCATGGTAGCCAGGTAGGATGCTTCTGAGTGGCAGATGGTCCTGTTCTCACCTATACTGTCTTCCTAATAGTGGAGACTTAGGAGCCACACGGGCCTGGGTTCAATTCCTGACTCTGTCCCTCACAAATTGTACAAGCCACTTAACCTCTCTGAGCCTCAGATCCTTCATCTTAAAAATGGAACTTAATAACAGTAACCTCATTATAAGGTTTCTGCAACCATTAAATGTGTGAAACTCTTAGACCAGTGCCTGGCACATAGGAAGTGCTGGAAAATGTCAGCTTCTGTTATCCTTACACTAACACTCTGCCTGCTTGGCGTGCTTTGGTTGAAAAGCCAAACTGAATTAAATTGCGCAGAGAAATTTTATCCATTCTTGTGGATGAAATAATGGAAAGGACCCTCTCAAGGGTGCACTGTTAACTTCCTGTTGGTAGGCACATATTTCTATCTTTATTACTGTTGCATAATCGCCCTTATATTAGGATGTCAGCTCAGCACACTGACATATCAGGACTGTATCATTGCCTGTAGAGATTGTTGCTTTTTGTTTTAAGGAGAAGGGATTAGAAACCCTGTCCAAATGTTGATTTAATGATATTTTGTTACAGACGTATAATTTTCAGATGAAATCAAACCCTTGTAATTAACGTATGACCTTCATATTTTGCATAACGATCAGCGTATCTTGGGATGAAAATGAGCTGAGACCACTGTGCACTATCAGCTCCCTGTTACCTCGGATTCTCGAATTCTCTTTTTCTGGGGTTGGTAGAAAGAGGCCATTTGTCTCTTGATGGCGCTTCTTCTAGCTTCTGTCTCTGATTTGCTCTCTGGTCTTGGATGATCATGAACTCCCTTGGCCTGCGATAACGAGAAAATGAATCATACATTTGTGCCTCTAAAGGAAGCTGACAATGTTGCCCAAAAATTGATCATGCCTTTCCCAACATCTCAAGAGTTTAGTTTTGTTTCTTTCAAAATGACAGAAAAAAAAATTCTTGAACAAATAAAACAGGCTCAAGAATTGACATCTGAAAAGATCACCTGCAATCCCTTCACTCTATTAAAAGAACTATAACTTGGTTTACCATCTGTGTACCTTAAAGAGCACAAAGTAGTGAGTGAATTTCTAGGCTCCCGCTAGGTCCCTGGGGAGCTCCAGCACCTATTTCTGGCCACTGGGGCTGTATTTTGTTTGGCCCAGGGTTCCCAAGGCACACGA | TTGGCAATGGAAGTTCAAAGGAAAAAGTAACCAATGAGTGTACTAAGCATCTTTCCCTTTAAAAAAAATTGGTTGGTTAGAAACTCATAGGAGTGTACTCATACCTACTCAATCTTTTGTTAAGTACTGCATGCATTTATGATGTTGGAGTATTAGGCTTTTATGAATTAGTTGGATGATACAGAATGCTCAATGATTTAAAATGGCATCTGACTGACTACAATTTAGTTATACAAATTGATTATTCTATGCAAATTTGAGGATGATACTTCTAGGCACCCCCCCCCAAAATATATTGCTCCTGTAGTTTATCTTTATTTGAAAACAGAATATTTTCACTAAAGTGTGTGTGTGAACACTCCAAATGTTTTGAAAAGGCTTTCTGTTATGACAGAGTACAACAGCAGGTATTTTGCAAATAAACTACAAAACAGTCAAACTATTTAATACTTGTTTTATTTATTTATTTATTTATTTATTTTTTTGAGACAGGGTCTTGCTCTGTTGCCCAAGCTGGAGTGCAGTAGCACAAAGATGGCTGACTGCAGCCTTGACCTCGTGGGTTCAAATGATCCTCCCACCTCAGCTTCCCAAGTAGTTAGAACCACAGGCCCACTGCCATGCCCTGGGGTCTCTCTCTGTTGCCCAGAGATGAGGGCTCTCCCTGTTGCCCAGGCTGGTCTCAAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGTCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCTCTCTCAGCCAATTTAATAAGTTTTAATGTTTCATAACAACTGTTTCCCAGGTCATAATATGAACAATTTTTTTCCTATTTCTGTTTTGAAGTCAGGCAAGAATTAGCTTCATTTAAAATGTCCTTATTACATTTAATTGAACATTATCAATTACCTTTATGAAGAATAACAGAGGAACCGTAAAGCTGTATTTCAGCAAAACATTTTAATTATAATTCTGAAACCTAATCAGAAAAAAAATGTATTTAGTACAATGGTAATCCATTAAATACAACTCATCATTGTTAGGCTGTCTCTGTTATGGAAACTATCATGTTATGAAAAGGTTATGAAAAGGTTAGGAAACTATCATGTTATGAAAAGCTAATATTGAATCTTTTAAAAACAACTGAACTTTACCATTGCTAGAGATTTTTTGAAAAGCTGTAGATACACACGTTGGAGATAAAACAATCAAAATTACTTCCTGAAGCTAGTTTAACAGGTTCTAAATGCTAAACAAAAATTTCATGAAATGACTCAGGTGATAAGATTGTAAAAATTTCTTCCTGAAGCTATTTTGGCAGCCTCTAGGGATGTGAAATTCCCTAAGGTGCTCTAATGGGAAAAGTCCTAGAATAAGAACCAGAATCCTTGACTTCTACTCCTGCTAATAAGCTAAGTGAACTTAGGTCAGTATTTAACCTCCTACAGTTTGCTTATTTGTTCATTTGAGAGACTCACACTTTCCTCACTACTTCTATGTATTGTAGCCAGTTTCAAAATGCTGTGTGAAATTTCCCATATTATCTAATCATTTCCAACTGATTATTTTCTCAGTTACTCAGAATTTTTACTACTATCTGTGTTTCTTTGCACACAAGGTGAATCTCCCAACTCAATAAGAGATCATTGCCATTTCACATTTCCCTGCCTCCTGCCTGCATGCACACTGCTATTATGTCCCCTGGATTGTCTTTCAAAAATCCTCATTGTTGTAGGTAAAGAAGGGACCCACTCTGTCTGAGTAACTGACTGCGGAGCCCAGCCCAGACAGACACACATCCCAAGTCTCTGCTTCATCTGTCCTAGAGGAAACTGGCTCGTGGGGAATAGCCACAGTGGGTCTGATGGCCCGGCAATCTCCTGCAATTTTCATAGGAGGTGGCCCTGAAGGAGAGGCTGCCCTGGTGACTGTCACCGGAGGACCCCAGGGTTCTGGATAGACAGACATCCCAGTATCTTCAGGAGCATAGTTACAGCTCGAAAGGCTCTTCACCTCTCGCACACTGTCACTGTATTTCATAGCAGGGGGCTGGTAGGCCTGGTAGGCCTGGTAGGACACTTTAGTGGTGGTGGTGATCACGGTTTGTAGGGCAGGGGCACCTGGTGGTGGAGTCGTGAGGTACCTGCAGGGAAGCTCTGGGTTATAATAAGGGCGAGTGGCCATGGCCTGAAACTGCCCATGGTTAGTCCTTTCCACAAGGCTGGGTTTTCCAAGAGCTGGTTTCCAGCCATGCTGTTTGTTGGTGAAATCAAAGCTTCTCTCATAGCTGCTGTATGAATTGACATTACATTGTAGTGTGTTCAGATGAACCCAGTCTGTGTCATTAGGGATACTGGTGGAATCCTTATAAAGGGTGGGATATGGGCTTGAATTTGTATAACCAGGGTTTGCCAATTCATAGCTGCAAGGTGGCCTAGGCAAATAGATTCTTGGGCTTGAGTATTTCTGGAAGGGTGGCATTTTGTCTCCTTGAAAGGTGGCTAGGTCACAGGTAGCTTTGTAAACATCAGACTTTGGGAAGGAAGGGCAAGGCTGCCCTGGAATAGGGAAGCTGGTTTCAGTAACTATATCAAAGTCTTCTGGATTTTCCAAGGGAGGTATGTTGCTGAAATGACCACTGCTGTCTTGATTTTCTTCTGCCTAGAAAAATGATACAAACATAGACACACGCTATGTAAATCGTGTGGACACCCTCACCTGTAACAATAGCCTAGAAGTAAGTAAAAACAGACATCCATGTGCTGGGCTCTGTGTTGTGAACATGGCACTGCTCAGGTACGTGATGTAAGCACGTGGTCCAGGGGTTGCTAAGCTTGGGCTCACTCAGACATAAATACCAACGACTGAATGACAAAGGTCCATGGTAGCCAGGTAGGATGCTTCTGAGTGGCAGATGGTCCTGTTCTCACCTATACTGTCTTCCTAATAGTGGAGACTTAGGAGCCACACGGGCCTGGGTTCAATTCCTGACTCTGTCCCTCACAAATTGTACAAGCCACTTAACCTCTCTGAGCCTCAGATCCTTCATCTTAAAAATGGAACTTAATAACAGTAACCTCATTATAAGGTTTCTGCAACCATTAAATGTGTGAAACTCTTAGACCAGTGCCTGGCACATAGGAAGTGCTGGAAAATGTCAGCTTCTGTTATCCTTACACTAACACTCTGCCTGCTTGGCGTGCTTTGGTTGAAAAGCCAAACTGAATTAAATTGCGCAGAGAAATTTTATCCATTCTTGTGGATGAAATAATGGAAAGGACCCTCTCAAGGGTGCACTGTTAACTTCCTGTTGGTAGGCACATATTTCTATCTTTATTACTGTTGCATAATCGCCCTTATATTAGGATGTCAGCTCAGCACACTGACATATCAGGACTGTATCATTGCCTGTAGAGATTGTTGCTTTTTGTTTTAAGGAGAAGGGATTAGAAACCCTGTCCAAATGTTGATTTAATGATATTTTGTTACAGACGTATAATTTTCAGATGAAATCAAACCCTTGTAATTAACGTATGACCTTCATATTTTGCATAACGATCAGCGTATCTTGGGATGAAAATGAGCTGAGACCACTGTGCACTATCAGCTCCCTGTTACCTCGGATTCTCGAATTCTCTTTTTCTGGGGTTGGTAGAAAGAGGCCATTTGTCTCTTGATGGCGCTTCTTCTAGCTTCTGTCTCTGATTTGCTCTCTGGTCTTGGATGATCATGAACTCCCTTGGCCTGCGATAACGAGAAAATGAATCATACATTTGTGCCTCTAAAGGAAGCTGACAATGTTGCCCAAAAATTGATCATGCCTTTCCCAACATCTCAAGAGTTTAGTTTTGTTTCTTTCAAAATGACAGAAAAAAAAATTCTTGAACAAATAAAACAGGCTCAAGAATTGACATCTGAAAAGATCACCTGCAATCCCTTCACTCTATTAAAAGAACTATAACTTGGTTTACCATCTGTGTACCTTAAAGAGCACAAAGTAGTGAGTGAATTTCTAGGCTCCCGCTAGGTCCCTGGGGAGCTCCAGCACCTATTTCTGGCCACTGGGGCTGTATTTTGTTTGGCCCAGGGTTCCCAA | benign | 105,839 |
Does the variant impacting DTNBP1 (dystrobrevin binding protein 1) on chromosome 6, position 15615305, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Hermansky-Pudlak_syndrome'] | CATGCCATTGCACTCCAGCCTGAGCAACAACAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGCCCCTTTTTTGACACGGACCCCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTGCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGCACAGTATCGATCTCCTGACCACATGATCTGCCCGCCTTGGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACTGCACCTGGCCAAGGACTCCATTCTTAATGCTGCCAAATGCCCTCCTACAATCTTTGTGGGACAAATGAAATGTACAGAAAGCACCTCTGGAAAATTCGCACACATACAACCTTTTGTGAACAATTTGATCCATGGCCTCCCTGGAGCTCTTCTGAAGCTCTTCCATTTACAGCCTGCACACAACCCAATCTCCCATCCCTGCCTGGCAGTCTCTCAAACTATGGTCCACAGGCCACCCATATCAGAATTACCTAGAATGCCTGTTTCAAACCATTCTAAATTTAAACCATTCTAGAGGCTTGTGGAATAAGGAGTCATTTCAACTTTCTCCACTGGAATTAACTTTAGAATGGACTCCCCAAGGATGAAGCCCAGGAATCCCCATTTTAAATACTCTCCCCAGGTGACTCTTATGGCTCATTAACATTTAGTGCCCATCTCTAAGGACACATGACCCTGATTGAGAACTTGTGTTCTAAAATACTCATTTCTATTCATTTCTGCCTCATCCCTTGGCCTCATTCTAGAAGATTTTAACATCAATACAATAATCCACCTCACCTATGTATTAGCTTCATTGGGGGTAGGGGGGTGGTGGTATATTAGTGACCAGCTCCTCCTGTCCATGATAGCAACCCACTCCTGTTATTGTCACATCCTAGATCCAGAACAGCTCCACTCATCAACACTCCTAACACCAAGAGTGTACTCTGCCCAACCTATCCATCTTTCTCTCCACCAAATCTGCTCTTGGGCCACAGCCAGACCCAATCCCATGACTTCCGCTTCCTCCCAACTAGCAAAGCCCGCCTCCAGCTTCAGTTCCAGAGGCGCCCAGCACAGATGACAGTCTGTCTCATGTCCTCTGAGACTGACTCCCCACGGACTTCAGAAATACCAACCCTGTACCTTCCTTCTCTGAGATGGCCACTGCAGGACTTGGGATGCCAGAGCTAGTCTAGCAGGCTGTTACCCTTAGACTCCTTTTCCATCTCCAGTTCAGGTTGGCCTAGTGATAACAGCCATTATTATAACTAATATTTACAAAGCACTAACTGAATTAGGTAACAATTAATTCATTTAATCCTTATAACAACTCTATGATAGGGGTACATCATTATCCCATCATAAATCAGTGACATTGAGGCCAAGAGAGATAAAATAATTTGCCTAAGGTCTCAAAGGTAGTGTGTGACCGAGCTGAGATTTGAAGCCCTCCAGCCCCTTTCCACAGCCTGAGCTCATGCTCCTTTCCTTCTGCTCTAGTAATGGAGGAGAAGAGCAGGAAAAGAAAAGAGCAACCCAGTCATTTGCCTCTTGGAGAAAACTAGCTCAGGGCTCCTATTTTGCTGGAAAACTTTGCCCTGTGCTCCACTCCTTCATCTTTATATTTGGGATTCATGTTTTACCTTCTCCTGAGTTTTTTATAACTCATCTCCAAAAGATGGCAACAGACAGTGGTTTTTAAAAAAAGTTTTGGAAAGCTTATTTATCAGTTTTATGTTGAAACCTTTGTCTTTTATCAGCCGGGACTTCTAAAGAGTAGCATGTAAAGTAATATGGAAAACTTCGAGACTGGAATGAATACTGTGGCAAACTTTTCAAACTCACCTCTTATTTTTCTTGTAATTCTCCAGTTGCTGGGACTGCATATGTTTGCATCTTTCTAATTCACACTGCCCACATAAGTCTTCCAGATGCAGCAGGTTGTTCTCTACCTCCTCAAAACTCGCCTCTAAATGAGCTGAAAGTATATAAAAATAAACAGACCTCAAAAGTCAGAATCCTCAATCATGATGAATACAAAAAGTATCAAAAAGGTAAAAGTTCACATTGTTGAGATTGTTTTGCATTTTTAATGTTTTTTATTAAACTTTCTTGAAGCAAAATAAAATATACTGGCCAACATTAAACCATAATTCAAATTACTTTTTTGACTACATTTCAAGCATTTTCAAGAAATAACTTTCCTAAACACTTATTAACCAGGAAGACAAAGAAATGGAGAAACATTATCTTGATTAACGTAATGCTATATCCTAATGATCCCATATACCACATGTGAATAACCAATTTTCACATAAGAATATGGTAAAATATAATTAACACAAATTATACCTACCTTAACCTAATTACACCTATACTTAACTAACTTAATATCTGTGTTTCTAAATTACGTTAGCATTTGTTTTGCCTCTGGCACATCACATACACAAATCTTCAAGGCACAGTAGATATGCACAAATACTTGGTAAGCATGAGTTACCAGGCTACTCAGTGGTTGGGTGAGGAACAGACTTTGCTCTGCCTGTCAGGTGACTAGTCTTTCACTACTCCACTCTGCTGCTAGGCCACAGAGCCTTGCAGCTGTATTGGAACATGAAGATCACCCACTCAAACCTTTCACTGAGAAGATTCAAGACTAAAGCCTAGAAAAACAAATACAGTGCCTTGCCCAGGCAAGCTAGTGAAGGGCCACACGGCCAGTGAAGGGCAGTCAGGAATCCAAACTGAATCCCTCTCACATTACACTAATTTCCAATTGACAGGGTGCTAAGTAAACTGAGATTGTAGGGGCAAGGATTAGTTGTTTTCTTATACGAAAGAAAAGCTTTCGAGGTCAAAGATTTGAGAACTCAGAGCCTCATAACTAGTTATCTATTATTCACTGACATATGCCAGTCACTGTGCCAGTCACTGTGATACAAAGATGAAAAAGACAGTCCTGGAGCTCAAGGAGCTTACAGGAGAGGGGAGGTATATTTCAATGGCAACAGAGCATGACAGAGTAAGGCATGAGGTGCCGAAGGAACTCAAAGGAGTGGCATCTAACACAGATGAGGGAAAGCTCAGCCAGAAATGACTCCCAAGTCAGGAAGTAACAGCGATCCAGTGGGGAAGGGAGCAGTGAAGAACAAGTTGGCTGTGCAGCCTTCCAGTCTTGGGTTCACTTAAACGGCTACAATATAATTCCTTCATTTACGTACTAGCTTTTTACATGACTTTCTAAACTAGCTTTCATAGCATTTAGGTTTGAGGCAAACTCCTCAAATTTCAACTTACAATTATAGGTTTATTGTAATGCAAATTTTTGCCGTTTTTTGAAGTCCTAGAGAGAGCAATTAGGCACAAGAAAGAAATAAAGACATCCAAATAGGAAAGGAGGAAGTCAAAATGCCTCTGTTTGCAGATGACATGATCTTATGTATAGAAAACTCTAAAAGCGCCACCAAAAAAACTTTCAGAACTTGATAAATAAATTCAGTAAAGTTGCAGGATACAAAATCAATACACAAAAATCAGTAGCATTTCTATACAACAACAATGAAATTGCAGGGGGGAAGAAATCAAGAAAGCAGTCCCATTTACAATAGTTACAAAATATTACAATACTTAAGAATAAATTTAACCAAGGGAAGGAAAGAGCCAGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGTTTCAGATCAAGGGGATGAAAGATCTCTACAAGACAAAGTATAAAACACTAATGAAAGAAGTTGAAGAAGACACAAAAATGAAAAGACATCCCCATGTTCATGCATTAGAAGAATATTGTGAAAATGATCATGCTGCCAAAAGTGATCTACAGATTAAATGCAATCCCTATCAAAACACCAATGACATTCCTCACA | CATGCCATTGCACTCCAGCCTGAGCAACAACAGTGAAACTCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAATGCCCCTTTTTTGACACGGACCCCATTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGATGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTGCGCCTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCACACCCGGCTAATTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCGTGTTAGCCAGCACAGTATCGATCTCCTGACCACATGATCTGCCCGCCTTGGCCTCCCAAAATGCTAGGATTACAGGCGTGAGCCACTGCACCTGGCCAAGGACTCCATTCTTAATGCTGCCAAATGCCCTCCTACAATCTTTGTGGGACAAATGAAATGTACAGAAAGCACCTCTGGAAAATTCGCACACATACAACCTTTTGTGAACAATTTGATCCATGGCCTCCCTGGAGCTCTTCTGAAGCTCTTCCATTTACAGCCTGCACACAACCCAATCTCCCATCCCTGCCTGGCAGTCTCTCAAACTATGGTCCACAGGCCACCCATATCAGAATTACCTAGAATGCCTGTTTCAAACCATTCTAAATTTAAACCATTCTAGAGGCTTGTGGAATAAGGAGTCATTTCAACTTTCTCCACTGGAATTAACTTTAGAATGGACTCCCCAAGGATGAAGCCCAGGAATCCCCATTTTAAATACTCTCCCCAGGTGACTCTTATGGCTCATTAACATTTAGTGCCCATCTCTAAGGACACATGACCCTGATTGAGAACTTGTGTTCTAAAATACTCATTTCTATTCATTTCTGCCTCATCCCTTGGCCTCATTCTAGAAGATTTTAACATCAATACAATAATCCACCTCACCTATGTATTAGCTTCATTGGGGGTAGGGGGGTGGTGGTATATTAGTGACCAGCTCCTCCTGTCCATGATAGCAACCCACTCCTGTTATTGTCACATCCTAGATCCAGAACAGCTCCACTCATCAACACTCCTAACACCAAGAGTGTACTCTGCCCAACCTATCCATCTTTCTCTCCACCAAATCTGCTCTTGGGCCACAGCCAGACCCAATCCCATGACTTCCGCTTCCTCCCAACTAGCAAAGCCCGCCTCCAGCTTCAGTTCCAGAGGCGCCCAGCACAGATGACAGTCTGTCTCATGTCCTCTGAGACTGACTCCCCACGGACTTCAGAAATACCAACCCTGTACCTTCCTTCTCTGAGATGGCCACTGCAGGACTTGGGATGCCAGAGCTAGTCTAGCAGGCTGTTACCCTTAGACTCCTTTTCCATCTCCAGTTCAGGTTGGCCTAGTGATAACAGCCATTATTATAACTAATATTTACAAAGCACTAACTGAATTAGGTAACAATTAATTCATTTAATCCTTATAACAACTCTATGATAGGGGTACATCATTATCCCATCATAAATCAGTGACATTGAGGCCAAGAGAGATAAAATAATTTGCCTAAGGTCTCAAAGGTAGTGTGTGACCGAGCTGAGATTTGAAGCCCTCCAGCCCCTTTCCACAGCCTGAGCTCATGCTCCTTTCCTTCTGCTCTAGTAATGGAGGAGAAGAGCAGGAAAAGAAAAGAGCAACCCAGTCATTTGCCTCTTGGAGAAAACTAGCTCAGGGCTCCTATTTTGCTGGAAAACTTTGCCCTGTGCTCCACTCCTTCATCTTTATATTTGGGATTCATGTTTTACCTTCTCCTGAGTTTTTTATAACTCATCTCCAAAAGATGGCAACAGACAGTGGTTTTTAAAAAAAGTTTTGGAAAGCTTATTTATCAGTTTTATGTTGAAACCTTTGTCTTTTATCAGCCGGGACTTCTAAAGAGTAGCATGTAAAGTAATATGGAAAACTTCGAGACTGGAATGAATACTGTGGCAAACTTTTCAAACTCACCTCTTATTTTTCTTGTAATTCTCCAGTTGCTGGGACTGCATGTTTGCATCTTTCTAATTCACACTGCCCACATAAGTCTTCCAGATGCAGCAGGTTGTTCTCTACCTCCTCAAAACTCGCCTCTAAATGAGCTGAAAGTATATAAAAATAAACAGACCTCAAAAGTCAGAATCCTCAATCATGATGAATACAAAAAGTATCAAAAAGGTAAAAGTTCACATTGTTGAGATTGTTTTGCATTTTTAATGTTTTTTATTAAACTTTCTTGAAGCAAAATAAAATATACTGGCCAACATTAAACCATAATTCAAATTACTTTTTTGACTACATTTCAAGCATTTTCAAGAAATAACTTTCCTAAACACTTATTAACCAGGAAGACAAAGAAATGGAGAAACATTATCTTGATTAACGTAATGCTATATCCTAATGATCCCATATACCACATGTGAATAACCAATTTTCACATAAGAATATGGTAAAATATAATTAACACAAATTATACCTACCTTAACCTAATTACACCTATACTTAACTAACTTAATATCTGTGTTTCTAAATTACGTTAGCATTTGTTTTGCCTCTGGCACATCACATACACAAATCTTCAAGGCACAGTAGATATGCACAAATACTTGGTAAGCATGAGTTACCAGGCTACTCAGTGGTTGGGTGAGGAACAGACTTTGCTCTGCCTGTCAGGTGACTAGTCTTTCACTACTCCACTCTGCTGCTAGGCCACAGAGCCTTGCAGCTGTATTGGAACATGAAGATCACCCACTCAAACCTTTCACTGAGAAGATTCAAGACTAAAGCCTAGAAAAACAAATACAGTGCCTTGCCCAGGCAAGCTAGTGAAGGGCCACACGGCCAGTGAAGGGCAGTCAGGAATCCAAACTGAATCCCTCTCACATTACACTAATTTCCAATTGACAGGGTGCTAAGTAAACTGAGATTGTAGGGGCAAGGATTAGTTGTTTTCTTATACGAAAGAAAAGCTTTCGAGGTCAAAGATTTGAGAACTCAGAGCCTCATAACTAGTTATCTATTATTCACTGACATATGCCAGTCACTGTGCCAGTCACTGTGATACAAAGATGAAAAAGACAGTCCTGGAGCTCAAGGAGCTTACAGGAGAGGGGAGGTATATTTCAATGGCAACAGAGCATGACAGAGTAAGGCATGAGGTGCCGAAGGAACTCAAAGGAGTGGCATCTAACACAGATGAGGGAAAGCTCAGCCAGAAATGACTCCCAAGTCAGGAAGTAACAGCGATCCAGTGGGGAAGGGAGCAGTGAAGAACAAGTTGGCTGTGCAGCCTTCCAGTCTTGGGTTCACTTAAACGGCTACAATATAATTCCTTCATTTACGTACTAGCTTTTTACATGACTTTCTAAACTAGCTTTCATAGCATTTAGGTTTGAGGCAAACTCCTCAAATTTCAACTTACAATTATAGGTTTATTGTAATGCAAATTTTTGCCGTTTTTTGAAGTCCTAGAGAGAGCAATTAGGCACAAGAAAGAAATAAAGACATCCAAATAGGAAAGGAGGAAGTCAAAATGCCTCTGTTTGCAGATGACATGATCTTATGTATAGAAAACTCTAAAAGCGCCACCAAAAAAACTTTCAGAACTTGATAAATAAATTCAGTAAAGTTGCAGGATACAAAATCAATACACAAAAATCAGTAGCATTTCTATACAACAACAATGAAATTGCAGGGGGGAAGAAATCAAGAAAGCAGTCCCATTTACAATAGTTACAAAATATTACAATACTTAAGAATAAATTTAACCAAGGGAAGGAAAGAGCCAGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAGGCTGAGGCAGGAGGATTGCTTGAGCCTAGGAGTTTCAGATCAAGGGGATGAAAGATCTCTACAAGACAAAGTATAAAACACTAATGAAAGAAGTTGAAGAAGACACAAAAATGAAAAGACATCCCCATGTTCATGCATTAGAAGAATATTGTGAAAATGATCATGCTGCCAAAAGTGATCTACAGATTAAATGCAATCCCTATCAAAACACCAATGACATTCCTCACANN | pathogenic | 105,910 |
Is the genetic variant on chromosome 6, position 18122137, gene NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Inborn_genetic_diseases', 'Lafora_disease', 'Myoclonic_epilepsy_of_Lafora_2'] | CTTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAAATAATTAGCTACTTGTAAAGACAGTACACATAGCAACACTACACATTCACATATTTTTCCCACATCTGTTGTCTTATTTAAGCGCAACTTATTTGGAATCAGAATTGAATTCAAATTGGGACTAAGGCAGTAAGTAACTATGACCTCGAGGAAGTCACTTAAGCTCTCTGGGTCTCAGTTTTCTCACTTGTACAATGAGATTAATAATAAAAATTATGGCTGAGCAAGTGGCTATGCCTGTACTCCTAGTACTTTGGGAGGCCGAGGAAGGTGGATTGCTTGAACTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTGCCAAAATACAAAAATTAGCTGAGTGTGGTAATGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGACCACCTGAGCGGGGGACGTTGAAACTGTAGTGAGCTGTGATCATGCTTCTGCACTCCAGCCTGGGTGACAGAGCTTGACTCTATCTTGGGGGGGAAGAAATTACCTCACTGGATAGTACAGATTAAATAAGCTAATATTTGCAAATTTCCTTGCACAGAGTATGCATTCAATAAATGGTAGATTAATCTCCAATAACTGTCCCAAGCTTTGTAAGTCTGCCAGATGGTTTTAATTATCCCTGCCTGGATAGATGAGTTTAAGTGACTTATCCAGGGTTAAACAATTCATTAATGGCAGCACTAGTGCTTCTGATTCCAGGGACCCACCCCAGCCCATCACCCCCAGTCAACTTTATAGACTTTTATAGAATGAGATGCTGTGTCCAGCACAAGAAGAGAATTCTCCTTGGTGAAGGTAAGAGCCACAGGATGCGAAAGACCATGAGTGACCATGGGCTTCGGTACTGGAAACTCCTCAGGTTTTCCTAAGCAAAGGATAGCTGGACCAGATGTATCTGCAACAATCACATTTCCCTGGTGATCAAAGGTCACAGCGGAGGCAGTTATTTTGGAGGGAAAGTAGAGGCTCAGCCCAAAGGTATCCACTTGGCCGACAAGCTGCATACTTGAGCTAAACACTTTCACCCTGGTGCTGCAAACCCCAGTCCCCAGGGCCAGGGGGTGCTCCAGGACCGCAATGGCCCCGGTGAGCCAAGACACTGCCACCCCTCGGGGATTGCACAGATGAGCTTGCAACCTTTCAGTTCTCCGAAGGACCCCTTCCGCGAAGTCGACGTCCAGGAGGTGCAGGGACCCTGCCTCCGCATCAGTTACCACAATCCCATTCTGAGGGGTGGTCTCCACACCCCAAGGTAAGGAGAATTGGCCTCCAATGACAAGCTTGATCTGGCCAAAAAAATCAAACACTTTGATGGAGCGATCGCCGGCGTCAGTGACAACCACATGGCAGTCGTTGGTGATGGTGACATCCACAGGGTACCTAATGTCTTGGGCAGCGTCCCCCTTCTCTCCAAACTGATGCGCGCATCCTCCCCCTGAGTCAAAAATCTTGACACGCCTCCTGCCGTCGTGCACCACCACGACACGCCCCGTCTTGGGACAAAGCGCCAGTCCGGTGGGGTTGACCAGGGTCCCCCAGCCGCCGAAGGTGTGGTGGCAGGTGAGGGCTCCGGGGGCGCTGGGGGCGGCGCGATGGGCGGCCGGGGACTGGCGAAGCGCTGAGCCCAGGAGCTCTATGAGGTGCAGCACCGGCAGGCAGTCGCTGGTGTCGCAGCCCCGGCAAGCTCGCCTGCAGAATGGGCACTCGAGGGCCAGAGTGCGCGGGTGCGCCAGGGCGGCCACGCAGGCCAGGCAGACCACGTGGCCGCAGGACAGGTTGCGCGGGCGCCGCTGCTGCCGGTGGCCAAACTTCTCAAAGCACACCTTGCACTCGAGCAGGCTGATCTCCGCCTCGCGCATGAGCTCATGCAGCGCTGGCCCGCTCTCCGAGGCTTCGGCCGCCATGGCGCGTCCTGTGCACTCCCGCCGCGCCGCCTGGCCGTGCCCCAGCGACGCTCTCGGTCACGGTCACAGTCATGGTCACGGGGTGGGACGTGCGCCCTGACGTCGAGCGCCGCGGGCCTCTGCACTGCGATCTGCTGCCCCTTGGTGGGCACGCGCGGCACTGTTTCCTGAGGGCCTGATGGTGGACGTTTGCAAGACAAATCCACATGCGCGTTGTGTAGACCTGTAATCGTCACAGCAGTCATGGATGGATTGTGTACACTTTCAGATGAGGAAACACACCTATTGAGGACAACAGGATTGCTCCCTGTCACCCAGCCTGTAAGCGGCAAAACAAGAACTAGAACCCAATCTTCCAGCCCGGGTGCCTAGCAGTGTCTCCAATCCGCAGCGCCGGGTGCTACGGCTGTCCGGGCATAAAACATGGTCCCTTAGCTCATGATGCTTATGATCTGAACCGGAAAACACGAACACACTAGAGAAGATAAACTCCAAGGGAGGTGAGGCAGATGTGTACATTTCTTTTGTGTCTTCTGTCATACTCATAGTTAAGTCAATGTTAGATGAATACATACTTGTAAAATGAATTTGTGCATGAATGAATGTTATAGAACAACAACAACAACAAAAAAAAATCAACGAGGTGAATGAGTGTCAGATGGGGCAACCATGCTGGAAGTGTCTTGCAGAGTAATTAATATGAAATAAGAAAGCTGTTAGTTAATAATAATTACCATAGAACTTCATTTTTTTGTTTTTTAAGACAAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGCACGATCACAGCTCACTGCAGCCTCCATCTCCCAGGCTCAAGCAATCCTCCCACTTCAGTAGCTGGGACTACAGGCATGCACCATCACACTAGGCTAATTTTTTAATTTTTTTGTAGAGAGGAGGTCTCACTATGTTGCCTAGGCTGGTCTTGAACTTGTGAAAATTGTTCACATTCCTCCCCACCCCTTGGCCTCCCAAAGTGCTGGTGTGAGCCACTGTGCCCAGCCTATGGAATTCACATATGCCTGCCCCATTGTGTTAGGTTGGTGAAAAGGATTCGCAGTGTTTGCCATCACTTTTAATGGCAAAACCGTGATTACTTTTGCAGCAAATTAATAAATAATTTACATAGATTATCTTGTTTAAACCTCATAGCAATCCTACAAAAATATGTTATTTTTATTGTCTTTTTTTCTGATAGAATTCATAGAAATCAAATATCTTGCCCAGGGTCACATGGCTAGGAAGTGGCTGGCCTGGAATTTGAAGCCAGGCAGTTTGACTTCAGAGTTACCTATTTTAGTCATTTTCAAACTTCTTTGCACATGGTAAACACCTGGGTCGCACCCGAAAAGTTTAATTGGCCCATGGTGTGGTCTGGACAGCTGGGATTTATAAAAGCTCCCCAGGTGATTATAATGTACAGCCAAGTTTGAGAAACACTGCATTATAATAATTCCCTCAAATGACACTAAGTTCAGTTTTTCCAATCTCAGTTAAGACCAAAAACAAAGAGAATTTGCCATATGTTGGAAAATCTTCAAACAAGGGATA | CTTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAAATAATTAGCTACTTGTAAAGACAGTACACATAGCAACACTACACATTCACATATTTTTCCCACATCTGTTGTCTTATTTAAGCGCAACTTATTTGGAATCAGAATTGAATTCAAATTGGGACTAAGGCAGTAAGTAACTATGACCTCGAGGAAGTCACTTAAGCTCTCTGGGTCTCAGTTTTCTCACTTGTACAATGAGATTAATAATAAAAATTATGGCTGAGCAAGTGGCTATGCCTGTACTCCTAGTACTTTGGGAGGCCGAGGAAGGTGGATTGCTTGAACTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTGCCAAAATACAAAAATTAGCTGAGTGTGGTAATGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGACCACCTGAGCGGGGGACGTTGAAACTGTAGTGAGCTGTGATCATGCTTCTGCACTCCAGCCTGGGTGACAGAGCTTGACTCTATCTTGGGGGGGAAGAAATTACCTCACTGGATAGTACAGATTAAATAAGCTAATATTTGCAAATTTCCTTGCACAGAGTATGCATTCAATAAATGGTAGATTAATCTCCAATAACTGTCCCAAGCTTTGTAAGTCTGCCAGATGGTTTTAATTATCCCTGCCTGGATAGATGAGTTTAAGTGACTTATCCAGGGTTAAACAATTCATTAATGGCAGCACTAGTGCTTCTGATTCCAGGGACCCACCCCAGCCCATCACCCCCAGTCAACTTTATAGACTTTTATAGAATGAGATGCTGTGTCCAGCACAAGAAGAGAATTCTCCTTGGTGAAGGTAAGAGCCACAGGATGCGAAAGACCATGAGTGACCATGGGCTTCGGTACTGGAAACTCCTCAGGTTTTCCTAAGCAAAGGATAGCTGGACCAGATGTATCTGCAACAATCACATTTCCCTGGTGATCAAAGGTCACAGCGGAGGCAGTTATTTTGGAGGGAAAGTAGAGGCTCAGCCCAAAGGTATCCACTTGGCCGACAAGCTGCATACTTGAGCTAAACACTTTCACCCTGGTGCTGCAAACCCCAGTCCCCAGGGCCAGGGGGTGCTCCAGGACCGCAATGGCCCCGGTGAGCCAAGACACTGCCACCCCTCGGGGATTGCACAGATGAGCTTGCAACCTTTCAGTTCTCCGAAGGACCCCTTCCGCGAAGTCGACGTCCAGGAGGTGCAGGGACCCTGCCTCCGCATCAGTTACCACAATCCCATTCTGAGGGGTGGTCTCCACACCCCAAGGTAAGGAGAATTGGCCTCCAATGACAAGCTTGATCTGGCCAAAAAAATCAAACACTTTGATGGAGCGATCGCCGGCGTCAGTGACAACCACATGGCAGTCGTTGGTGATGGTGACATCCACAGGGTACCTAATGTCTTGGGCAGCGTCCCCCTTCTCTCCAAACTGATGCGCGCATCCTCCCCGAGTCAAAAATCTTGACACGCCTCCTGCCGTCGTGCACCACCACGACACGCCCCGTCTTGGGACAAAGCGCCAGTCCGGTGGGGTTGACCAGGGTCCCCCAGCCGCCGAAGGTGTGGTGGCAGGTGAGGGCTCCGGGGGCGCTGGGGGCGGCGCGATGGGCGGCCGGGGACTGGCGAAGCGCTGAGCCCAGGAGCTCTATGAGGTGCAGCACCGGCAGGCAGTCGCTGGTGTCGCAGCCCCGGCAAGCTCGCCTGCAGAATGGGCACTCGAGGGCCAGAGTGCGCGGGTGCGCCAGGGCGGCCACGCAGGCCAGGCAGACCACGTGGCCGCAGGACAGGTTGCGCGGGCGCCGCTGCTGCCGGTGGCCAAACTTCTCAAAGCACACCTTGCACTCGAGCAGGCTGATCTCCGCCTCGCGCATGAGCTCATGCAGCGCTGGCCCGCTCTCCGAGGCTTCGGCCGCCATGGCGCGTCCTGTGCACTCCCGCCGCGCCGCCTGGCCGTGCCCCAGCGACGCTCTCGGTCACGGTCACAGTCATGGTCACGGGGTGGGACGTGCGCCCTGACGTCGAGCGCCGCGGGCCTCTGCACTGCGATCTGCTGCCCCTTGGTGGGCACGCGCGGCACTGTTTCCTGAGGGCCTGATGGTGGACGTTTGCAAGACAAATCCACATGCGCGTTGTGTAGACCTGTAATCGTCACAGCAGTCATGGATGGATTGTGTACACTTTCAGATGAGGAAACACACCTATTGAGGACAACAGGATTGCTCCCTGTCACCCAGCCTGTAAGCGGCAAAACAAGAACTAGAACCCAATCTTCCAGCCCGGGTGCCTAGCAGTGTCTCCAATCCGCAGCGCCGGGTGCTACGGCTGTCCGGGCATAAAACATGGTCCCTTAGCTCATGATGCTTATGATCTGAACCGGAAAACACGAACACACTAGAGAAGATAAACTCCAAGGGAGGTGAGGCAGATGTGTACATTTCTTTTGTGTCTTCTGTCATACTCATAGTTAAGTCAATGTTAGATGAATACATACTTGTAAAATGAATTTGTGCATGAATGAATGTTATAGAACAACAACAACAACAAAAAAAAATCAACGAGGTGAATGAGTGTCAGATGGGGCAACCATGCTGGAAGTGTCTTGCAGAGTAATTAATATGAAATAAGAAAGCTGTTAGTTAATAATAATTACCATAGAACTTCATTTTTTTGTTTTTTAAGACAAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGCACGATCACAGCTCACTGCAGCCTCCATCTCCCAGGCTCAAGCAATCCTCCCACTTCAGTAGCTGGGACTACAGGCATGCACCATCACACTAGGCTAATTTTTTAATTTTTTTGTAGAGAGGAGGTCTCACTATGTTGCCTAGGCTGGTCTTGAACTTGTGAAAATTGTTCACATTCCTCCCCACCCCTTGGCCTCCCAAAGTGCTGGTGTGAGCCACTGTGCCCAGCCTATGGAATTCACATATGCCTGCCCCATTGTGTTAGGTTGGTGAAAAGGATTCGCAGTGTTTGCCATCACTTTTAATGGCAAAACCGTGATTACTTTTGCAGCAAATTAATAAATAATTTACATAGATTATCTTGTTTAAACCTCATAGCAATCCTACAAAAATATGTTATTTTTATTGTCTTTTTTTCTGATAGAATTCATAGAAATCAAATATCTTGCCCAGGGTCACATGGCTAGGAAGTGGCTGGCCTGGAATTTGAAGCCAGGCAGTTTGACTTCAGAGTTACCTATTTTAGTCATTTTCAAACTTCTTTGCACATGGTAAACACCTGGGTCGCACCCGAAAAGTTTAATTGGCCCATGGTGTGGTCTGGACAGCTGGGATTTATAAAAGCTCCCCAGGTGATTATAATGTACAGCCAAGTTTGAGAAACACTGCATTATAATAATTCCCTCAAATGACACTAAGTTCAGTTTTTCCAATCTCAGTTAAGACCAAAAACAAAGAGAATTTGCCATATGTTGGAAAATCTTCAAACAAGGGATANN | pathogenic | 105,946 |
Assess the variant on chromosome 6, position 18122138, impacting NHLRC1 (NHL repeat containing E3 ubiquitin protein ligase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Lafora_disease'] | TTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAAATAATTAGCTACTTGTAAAGACAGTACACATAGCAACACTACACATTCACATATTTTTCCCACATCTGTTGTCTTATTTAAGCGCAACTTATTTGGAATCAGAATTGAATTCAAATTGGGACTAAGGCAGTAAGTAACTATGACCTCGAGGAAGTCACTTAAGCTCTCTGGGTCTCAGTTTTCTCACTTGTACAATGAGATTAATAATAAAAATTATGGCTGAGCAAGTGGCTATGCCTGTACTCCTAGTACTTTGGGAGGCCGAGGAAGGTGGATTGCTTGAACTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTGCCAAAATACAAAAATTAGCTGAGTGTGGTAATGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGACCACCTGAGCGGGGGACGTTGAAACTGTAGTGAGCTGTGATCATGCTTCTGCACTCCAGCCTGGGTGACAGAGCTTGACTCTATCTTGGGGGGGAAGAAATTACCTCACTGGATAGTACAGATTAAATAAGCTAATATTTGCAAATTTCCTTGCACAGAGTATGCATTCAATAAATGGTAGATTAATCTCCAATAACTGTCCCAAGCTTTGTAAGTCTGCCAGATGGTTTTAATTATCCCTGCCTGGATAGATGAGTTTAAGTGACTTATCCAGGGTTAAACAATTCATTAATGGCAGCACTAGTGCTTCTGATTCCAGGGACCCACCCCAGCCCATCACCCCCAGTCAACTTTATAGACTTTTATAGAATGAGATGCTGTGTCCAGCACAAGAAGAGAATTCTCCTTGGTGAAGGTAAGAGCCACAGGATGCGAAAGACCATGAGTGACCATGGGCTTCGGTACTGGAAACTCCTCAGGTTTTCCTAAGCAAAGGATAGCTGGACCAGATGTATCTGCAACAATCACATTTCCCTGGTGATCAAAGGTCACAGCGGAGGCAGTTATTTTGGAGGGAAAGTAGAGGCTCAGCCCAAAGGTATCCACTTGGCCGACAAGCTGCATACTTGAGCTAAACACTTTCACCCTGGTGCTGCAAACCCCAGTCCCCAGGGCCAGGGGGTGCTCCAGGACCGCAATGGCCCCGGTGAGCCAAGACACTGCCACCCCTCGGGGATTGCACAGATGAGCTTGCAACCTTTCAGTTCTCCGAAGGACCCCTTCCGCGAAGTCGACGTCCAGGAGGTGCAGGGACCCTGCCTCCGCATCAGTTACCACAATCCCATTCTGAGGGGTGGTCTCCACACCCCAAGGTAAGGAGAATTGGCCTCCAATGACAAGCTTGATCTGGCCAAAAAAATCAAACACTTTGATGGAGCGATCGCCGGCGTCAGTGACAACCACATGGCAGTCGTTGGTGATGGTGACATCCACAGGGTACCTAATGTCTTGGGCAGCGTCCCCCTTCTCTCCAAACTGATGCGCGCATCCTCCCCCTGAGTCAAAAATCTTGACACGCCTCCTGCCGTCGTGCACCACCACGACACGCCCCGTCTTGGGACAAAGCGCCAGTCCGGTGGGGTTGACCAGGGTCCCCCAGCCGCCGAAGGTGTGGTGGCAGGTGAGGGCTCCGGGGGCGCTGGGGGCGGCGCGATGGGCGGCCGGGGACTGGCGAAGCGCTGAGCCCAGGAGCTCTATGAGGTGCAGCACCGGCAGGCAGTCGCTGGTGTCGCAGCCCCGGCAAGCTCGCCTGCAGAATGGGCACTCGAGGGCCAGAGTGCGCGGGTGCGCCAGGGCGGCCACGCAGGCCAGGCAGACCACGTGGCCGCAGGACAGGTTGCGCGGGCGCCGCTGCTGCCGGTGGCCAAACTTCTCAAAGCACACCTTGCACTCGAGCAGGCTGATCTCCGCCTCGCGCATGAGCTCATGCAGCGCTGGCCCGCTCTCCGAGGCTTCGGCCGCCATGGCGCGTCCTGTGCACTCCCGCCGCGCCGCCTGGCCGTGCCCCAGCGACGCTCTCGGTCACGGTCACAGTCATGGTCACGGGGTGGGACGTGCGCCCTGACGTCGAGCGCCGCGGGCCTCTGCACTGCGATCTGCTGCCCCTTGGTGGGCACGCGCGGCACTGTTTCCTGAGGGCCTGATGGTGGACGTTTGCAAGACAAATCCACATGCGCGTTGTGTAGACCTGTAATCGTCACAGCAGTCATGGATGGATTGTGTACACTTTCAGATGAGGAAACACACCTATTGAGGACAACAGGATTGCTCCCTGTCACCCAGCCTGTAAGCGGCAAAACAAGAACTAGAACCCAATCTTCCAGCCCGGGTGCCTAGCAGTGTCTCCAATCCGCAGCGCCGGGTGCTACGGCTGTCCGGGCATAAAACATGGTCCCTTAGCTCATGATGCTTATGATCTGAACCGGAAAACACGAACACACTAGAGAAGATAAACTCCAAGGGAGGTGAGGCAGATGTGTACATTTCTTTTGTGTCTTCTGTCATACTCATAGTTAAGTCAATGTTAGATGAATACATACTTGTAAAATGAATTTGTGCATGAATGAATGTTATAGAACAACAACAACAACAAAAAAAAATCAACGAGGTGAATGAGTGTCAGATGGGGCAACCATGCTGGAAGTGTCTTGCAGAGTAATTAATATGAAATAAGAAAGCTGTTAGTTAATAATAATTACCATAGAACTTCATTTTTTTGTTTTTTAAGACAAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGCACGATCACAGCTCACTGCAGCCTCCATCTCCCAGGCTCAAGCAATCCTCCCACTTCAGTAGCTGGGACTACAGGCATGCACCATCACACTAGGCTAATTTTTTAATTTTTTTGTAGAGAGGAGGTCTCACTATGTTGCCTAGGCTGGTCTTGAACTTGTGAAAATTGTTCACATTCCTCCCCACCCCTTGGCCTCCCAAAGTGCTGGTGTGAGCCACTGTGCCCAGCCTATGGAATTCACATATGCCTGCCCCATTGTGTTAGGTTGGTGAAAAGGATTCGCAGTGTTTGCCATCACTTTTAATGGCAAAACCGTGATTACTTTTGCAGCAAATTAATAAATAATTTACATAGATTATCTTGTTTAAACCTCATAGCAATCCTACAAAAATATGTTATTTTTATTGTCTTTTTTTCTGATAGAATTCATAGAAATCAAATATCTTGCCCAGGGTCACATGGCTAGGAAGTGGCTGGCCTGGAATTTGAAGCCAGGCAGTTTGACTTCAGAGTTACCTATTTTAGTCATTTTCAAACTTCTTTGCACATGGTAAACACCTGGGTCGCACCCGAAAAGTTTAATTGGCCCATGGTGTGGTCTGGACAGCTGGGATTTATAAAAGCTCCCCAGGTGATTATAATGTACAGCCAAGTTTGAGAAACACTGCATTATAATAATTCCCTCAAATGACACTAAGTTCAGTTTTTCCAATCTCAGTTAAGACCAAAAACAAAGAGAATTTGCCATATGTTGGAAAATCTTCAAACAAGGGATAG | TTGAGCCCAGGAGCTTGAAACCAGTTTGGGCAACAAAAACAAGATCCCATCCCTACGAAAAATTTAAAAATTAGCTGGGCATGGTGACACACCTGTAGTCCCAGCTACTCAGGATGCTGACGCAGGAGGATCGCTTGAGCCCAGGGAGTCGAGGCTGCAGTGAGCAGTGATCAATCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCATGTCTAAAAGCAAACAAACAAACGAAAAAACCCCATAAACATGTAACAGGAGCGTCATCAGCCCTTTGACGCTAGTATGTAGTGTGTTCTGCAATAGTTTAGAACTTACACAAATATAGGCCTTTCTCAAACAACCAAGTGGTATTTTCTGAGTTTGTATAGTGGAGAAGATATAGGCGTTAAAAGACATGTTTACTTTTTTAATAAGCAGTTCAATTGTTTTTCTTATTCACGTAACTCAGGATCAACAGTAACTTCATCTAATGTGCCATCAGAGCAGTCGCAAATTGAATGAAAGTGATGGCCACCACAAAATCCTTTTTCTCCTGAACTCTCCATAAAGTCTCCTTTCTTTGCACATCTTTGTGCTAAAATAATTAGCTACTTGTAAAGACAGTACACATAGCAACACTACACATTCACATATTTTTCCCACATCTGTTGTCTTATTTAAGCGCAACTTATTTGGAATCAGAATTGAATTCAAATTGGGACTAAGGCAGTAAGTAACTATGACCTCGAGGAAGTCACTTAAGCTCTCTGGGTCTCAGTTTTCTCACTTGTACAATGAGATTAATAATAAAAATTATGGCTGAGCAAGTGGCTATGCCTGTACTCCTAGTACTTTGGGAGGCCGAGGAAGGTGGATTGCTTGAACTCAGGAGTTTGAGACCAGCCTGGGCAACATGGTGAAACCCCATCTCTGCCAAAATACAAAAATTAGCTGAGTGTGGTAATGCACACTTGTGGTCCCAGCTACTTGGGAGGCTGAGGTGGAAGGACCACCTGAGCGGGGGACGTTGAAACTGTAGTGAGCTGTGATCATGCTTCTGCACTCCAGCCTGGGTGACAGAGCTTGACTCTATCTTGGGGGGGAAGAAATTACCTCACTGGATAGTACAGATTAAATAAGCTAATATTTGCAAATTTCCTTGCACAGAGTATGCATTCAATAAATGGTAGATTAATCTCCAATAACTGTCCCAAGCTTTGTAAGTCTGCCAGATGGTTTTAATTATCCCTGCCTGGATAGATGAGTTTAAGTGACTTATCCAGGGTTAAACAATTCATTAATGGCAGCACTAGTGCTTCTGATTCCAGGGACCCACCCCAGCCCATCACCCCCAGTCAACTTTATAGACTTTTATAGAATGAGATGCTGTGTCCAGCACAAGAAGAGAATTCTCCTTGGTGAAGGTAAGAGCCACAGGATGCGAAAGACCATGAGTGACCATGGGCTTCGGTACTGGAAACTCCTCAGGTTTTCCTAAGCAAAGGATAGCTGGACCAGATGTATCTGCAACAATCACATTTCCCTGGTGATCAAAGGTCACAGCGGAGGCAGTTATTTTGGAGGGAAAGTAGAGGCTCAGCCCAAAGGTATCCACTTGGCCGACAAGCTGCATACTTGAGCTAAACACTTTCACCCTGGTGCTGCAAACCCCAGTCCCCAGGGCCAGGGGGTGCTCCAGGACCGCAATGGCCCCGGTGAGCCAAGACACTGCCACCCCTCGGGGATTGCACAGATGAGCTTGCAACCTTTCAGTTCTCCGAAGGACCCCTTCCGCGAAGTCGACGTCCAGGAGGTGCAGGGACCCTGCCTCCGCATCAGTTACCACAATCCCATTCTGAGGGGTGGTCTCCACACCCCAAGGTAAGGAGAATTGGCCTCCAATGACAAGCTTGATCTGGCCAAAAAAATCAAACACTTTGATGGAGCGATCGCCGGCGTCAGTGACAACCACATGGCAGTCGTTGGTGATGGTGACATCCACAGGGTACCTAATGTCTTGGGCAGCGTCCCCCTTCTCTCCAAACTGATGCGCGCATCCTCCCCCGAGTCAAAAATCTTGACACGCCTCCTGCCGTCGTGCACCACCACGACACGCCCCGTCTTGGGACAAAGCGCCAGTCCGGTGGGGTTGACCAGGGTCCCCCAGCCGCCGAAGGTGTGGTGGCAGGTGAGGGCTCCGGGGGCGCTGGGGGCGGCGCGATGGGCGGCCGGGGACTGGCGAAGCGCTGAGCCCAGGAGCTCTATGAGGTGCAGCACCGGCAGGCAGTCGCTGGTGTCGCAGCCCCGGCAAGCTCGCCTGCAGAATGGGCACTCGAGGGCCAGAGTGCGCGGGTGCGCCAGGGCGGCCACGCAGGCCAGGCAGACCACGTGGCCGCAGGACAGGTTGCGCGGGCGCCGCTGCTGCCGGTGGCCAAACTTCTCAAAGCACACCTTGCACTCGAGCAGGCTGATCTCCGCCTCGCGCATGAGCTCATGCAGCGCTGGCCCGCTCTCCGAGGCTTCGGCCGCCATGGCGCGTCCTGTGCACTCCCGCCGCGCCGCCTGGCCGTGCCCCAGCGACGCTCTCGGTCACGGTCACAGTCATGGTCACGGGGTGGGACGTGCGCCCTGACGTCGAGCGCCGCGGGCCTCTGCACTGCGATCTGCTGCCCCTTGGTGGGCACGCGCGGCACTGTTTCCTGAGGGCCTGATGGTGGACGTTTGCAAGACAAATCCACATGCGCGTTGTGTAGACCTGTAATCGTCACAGCAGTCATGGATGGATTGTGTACACTTTCAGATGAGGAAACACACCTATTGAGGACAACAGGATTGCTCCCTGTCACCCAGCCTGTAAGCGGCAAAACAAGAACTAGAACCCAATCTTCCAGCCCGGGTGCCTAGCAGTGTCTCCAATCCGCAGCGCCGGGTGCTACGGCTGTCCGGGCATAAAACATGGTCCCTTAGCTCATGATGCTTATGATCTGAACCGGAAAACACGAACACACTAGAGAAGATAAACTCCAAGGGAGGTGAGGCAGATGTGTACATTTCTTTTGTGTCTTCTGTCATACTCATAGTTAAGTCAATGTTAGATGAATACATACTTGTAAAATGAATTTGTGCATGAATGAATGTTATAGAACAACAACAACAACAAAAAAAAATCAACGAGGTGAATGAGTGTCAGATGGGGCAACCATGCTGGAAGTGTCTTGCAGAGTAATTAATATGAAATAAGAAAGCTGTTAGTTAATAATAATTACCATAGAACTTCATTTTTTTGTTTTTTAAGACAAAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGGGGCACGATCACAGCTCACTGCAGCCTCCATCTCCCAGGCTCAAGCAATCCTCCCACTTCAGTAGCTGGGACTACAGGCATGCACCATCACACTAGGCTAATTTTTTAATTTTTTTGTAGAGAGGAGGTCTCACTATGTTGCCTAGGCTGGTCTTGAACTTGTGAAAATTGTTCACATTCCTCCCCACCCCTTGGCCTCCCAAAGTGCTGGTGTGAGCCACTGTGCCCAGCCTATGGAATTCACATATGCCTGCCCCATTGTGTTAGGTTGGTGAAAAGGATTCGCAGTGTTTGCCATCACTTTTAATGGCAAAACCGTGATTACTTTTGCAGCAAATTAATAAATAATTTACATAGATTATCTTGTTTAAACCTCATAGCAATCCTACAAAAATATGTTATTTTTATTGTCTTTTTTTCTGATAGAATTCATAGAAATCAAATATCTTGCCCAGGGTCACATGGCTAGGAAGTGGCTGGCCTGGAATTTGAAGCCAGGCAGTTTGACTTCAGAGTTACCTATTTTAGTCATTTTCAAACTTCTTTGCACATGGTAAACACCTGGGTCGCACCCGAAAAGTTTAATTGGCCCATGGTGTGGTCTGGACAGCTGGGATTTATAAAAGCTCCCCAGGTGATTATAATGTACAGCCAAGTTTGAGAAACACTGCATTATAATAATTCCCTCAAATGACACTAAGTTCAGTTTTTCCAATCTCAGTTAAGACCAAAAACAAAGAGAATTTGCCATATGTTGGAAAATCTTCAAACAAGGGATAGN | pathogenic | 105,947 |
Chromosome 6, position 24495026, gene ALDH5A1: benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | TAAACATTTGTGAGTGCTCCTAAAAGTTTTATGGGCCCTTGGCATCGTACCTACTGTGCGTAATGGATAAGTCATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTAC | TAAACATTTGTGAGTGCTCCTAAAAGTTTTATGGGCCCTTGGCATCGTACCTACTGTGCGTAATGGATAAGTCATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTA | pathogenic | 106,016 |
Benign or pathogenic: chromosome 6, position 24495099, gene ALDH5A1 variant? Disease(s) if pathogenic? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | ATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTACAGCTCTTAAAGATGGCATGGACCCAAAGAATGAGTGGTAGCAACATTTATTGTGAAGAGCAAAAGAAGAAAGC | ATCTGGGAAAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTACAGCTCTTAAAGATGGCATGGACCCAAAGAATGAGTGGTAGCAACATTTATTGTGAAGAGCAAAAGAAGAAAGCNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 106,018 |
Evaluate the clinical significance of the mutation at chromosome 6, position 24495107 in gene ALDH5A1: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | AAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTACAGCTCTTAAAGATGGCATGGACCCAAAGAATGAGTGGTAGCAACATTTATTGTGAAGAGCAAAAGAAGAAAGCTTCCACAG | AAGGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCGGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTACAGCTCTTAAAGATGGCATGGACCCAAAGAATGAGTGGTAGCAACATTTATTGTGAAGAGCAAAAGAAGAAAGCTTCCACAGNNNNNNNNNNN | pathogenic | 106,020 |
Gene mutation in ALDH5A1 at chromosome 6, position 24495109—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | GGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTACAGCTCTTAAAGATGGCATGGACCCAAAGAATGAGTGGTAGCAACATTTATTGTGAAGAGCAAAAGAAGAAAGCTTCCACAGCG | GGGAGTGGGTACCGTTTGAAATAGAACCTTAAAAAGGTAAGTGGGCTAGGGTAATTTTTGAACAAGAGAGGCAGCCACAATTAACTTGGCTTTTCTGGGCCTCAGTTGATTGAGGCCTCAATTGAATGATTTCCCCAGGCCAGTAGAAATGAGCCCTGTAATCCCAGCACTTTGGGAGGCCAAGGAGGGCGGATAACTTGAGGTCAGGCATTCAAGACCAGCCTGGCCAACACGGTGAAAACCTGTCTCTACTAAAAATACAAAAATTAGCTGGGCTTGGTGGCACACACCTGTAGCCCCATCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCGGAAGTTGCAGGGAGCTGAAATCGCACCACTGCACTCCACCCTGGGTGACAGAATGAGTCTGTCGGTCTCACAAGAACAAAACAAACAAAAAACAAAAACCACCACCAAAAACAAAACAAAACAAAAACAAAAACTCCCTCCGCAGGCAGGAGATGTAAACACGCCAGCTCCCCAGCCCCACCTGTGATACCTACTGGCCCACATCCCTATTAGGACTCCCTGGTTCTCCCCAGTTCCTGCAATAAAATACAGAGCAAAATAGTGTGAAATTGATTAAACTCTACTGTTATCACTTCTGCCATATGTGACTGGCTCAAAACTCAATGGATCTGACTCAGCAAAAGACAAAGTCAAAATTTAAAGTTACTGCCTCGGCATTTTGCAAATGTCCTAGAAAAAAATTCAACGTCCTAGAAAAAGGTGAAAGCTAGCAAGATACTCTCAACGCTGTAGGAGTTGAGAAAGGGAGATATGTAACCTAAAATCAATGCATAGGGCTGGGCTTCATTTGCACCCACAAATTCCCAGCATACGCCTGCTATTTTTATTTTTATCCTCATTAGGTTTTAAGCTTCCCTGCTGCTTTCAGAGTCTTAAGCCCAAGTCTAATTTTTTAACGGATGAAGAATGCTGTTTAAAGGTGCTCAAATACCTTGGTTGGATAGTATGCTCAATCCTTATACCTTGGTTGATTCAATTTTGACAAATGCTTCCATTTACTAGTTGGTGACCCAACTTTAATCTTACTAGTGGCTTGACTAGGGTAGCTAGTATGACTTTGAACGCTATATTGAATTTAATGTGGCAACTGTAATGAGCATTTTACGTTATCTCACAACAAAATGGGGTAGATATGGTTCTATTTTATAAGTGACTGGACTAAGGTTAACCTGTCGGTCACACAGCTTGTCGGCAACAGACTTGAGTTTGGATCCTAGTCTGTTTATTTCCAAAGCGCTGTTATTTATCGGGAGCAACCCTAGGAGAATGCCTAGACACACACCCAAAAAAGCAGCCAGGCAGCAGAACGCGGGGTCACACTTCGACCCCTCAGAGAACGATCGCTCCCAATCAATACTACGTGCTCAGGAGCTACAACTGAAGAAGCGTGATCACGGCCTTGGCATTTAGGGCAGGCACCAGCGCATCTATGGACCGCGCACAAATTCCGGGGATGCCGAATTTGGGGGATGCTAAGGGGAGAGAGTGGGTCTCTAGCAGCGATTGGGGGCTCAGGAGCAGTTAGTGACAAATGAGCACCCGAAAAGTGAAAAGGTGACAGCAGTCCGCAGGTGCATCTACTGGCGAGCCTTCTCCATCCCCGAACCCAACCCTCCCCCGGGAGAAGGTCGCGCCAGGAGAGAAGCCGCGCGGCGCTTAGGGCAAGGTGCAGAGGGCGGCGCGGCGGTGCAGCGAGAAAGACGCGGAGAGAGGGCGCTGCTCTGTGGCTCTGCAACCTTCCGCCAGCTCCCACGCTTTCCCCGCGCGTCCCCGGCGCCTCCTCGCTCCTCTTGCTTCCCCGCGACCCCTGCGTTCCCGTGCGCGCGCGCCCGCTTGCCTGTTTCCTGTCGCCGTCGTTGCCCGGGCCATGGCGACCTGCATTTGGCTGCGGAGCTGTGGGGCCCGGCGCCTCGGGTCGACGTTTCCAGGCTGCCGCCTCCGCCCCCGCGCCGGCGGCCTGGTCCCTGCCTCCGGGCCTGCGCCCGGCCCGGCCCGGCCCAGCTCCGCTGCTACGCTGGGCGCCTGGCGGGCCTCTCTGCGGCGCTGCTGCGCACCGACAGCTTCGTGGGCGGCCGCTGGCTCCCGGCCGCCGCCACCTTCCCCGTGCAAGACCCGGCCAGCGGCGCCGCTCTGGGCATGGTAGCCGACTGCGGGGTGCGAGAGGCCCGCGCCGCCGTGCGCGCTGCCTACGAGGCTTTCTGCCGCTGGAGGGAGGTCTCCGCCAAGGTGAGAGAGCCCGGATGCAGGGGGCCAGAGCTGGCCGGGGACACGGCGGGGAGCAGAGGGGGCTTTACCCCAAAGTGACACCAGCCGCGTCGCCTCCCTCCTGTGCTCAGTTCCCCAGGGTATACAAAGTGGAAAGTCAGAGCAACAAGGGAGACGACCGACAAATAAGTTTGGAGCTTCCACTTTGAGCCGGGCACTAGGGACACGACCCCTGCCCTCAAGCCTCATCAAGTTATGCACTGCCCAGTAGGGGAGGCAGAACGTGAGCGCCTAATACAAGCGAGCTGCTTGTTATGGTCAACAAGCCTAACCGTGGAGGGGCGGGGAGAAAGGGGAGGGGTGTCAGGGAAGTGAGAGCACGTGTGGCCCTTCAGAGTAGCTGAAATATCTCCGCAGCTGCAGGGAGCCCACGCAGGAGGCTGCTTCAGCGGCCCTTGAGAAGGCTGGTAGTGAGGGCCCCTGGCCAGAATCATGGGATCGGAAACGGAGAGAACTGTAGAAAGATTTGGGTTTTGTGCAGGGGAAGAGAGAAATCCAGGAGCGTTCTCCAGGTTTTCACCCTAAATGGATAAATGCTGCTATTGGCCATTGCATAGAGAACACTGGAGAATTGGGAGTAAGGGGTGGAGGGCCATTAAATGGGAAGAATAGAGTAAGAAGAAAACTAAGAAAGTAGTTTCTTCCTTCTAATATTATATTATTAAACCTGGAGTCAACGCAGTGAAATTTTTTACCGTGTCCTTCAAAGCTCTCCCTCTGAAGGAATGCATCCAGCGATCCCTACGAGTACAAGAGAGTCTTAGCACTCATTCATCCATCAGCTGTTTACTGAGCACCTGCTGTATGCCCTGCACTGTTGGAGGTGCTTGGGATACCTCAGTTAAACGAAAGAAGGATTCTGCCCTTATGGAGCTCACATGGGGTGGAAGGGGAGCAGAAGAGAGATCAGAACTCTAAACAACAAACATAATATCTAAGCAAATAAGTATGTGAGAGATGCTGAGTGCAATATGGAAAAAAGGTAGAAGCAGGAGAGGATCCGGGCCAGAGGGAAGGGGCAAGATGCAGCATCAACAGTGTGACCAGGCATATTCCTCTGCTAGGGCTGCCATAGCAAAGTACCACAGACTGGGTGGCCTGAACAACAGACATTTCTCATTTTACCGCTCTGGAGGGTAGAAATCCCAGATCGAGGTGTTGTCAGAGTTGGTTTCTTCTAAGGCCTCTCATTGGCTTGCAGAGAGCTCAGCTTTTGTCTTTGTATCTCATCAGACCTCAATTTTAGACTCATGGAGTCTGAGATGTCTGTTCACGCCCAAGTGAGGATGTAAAGTAAGCAGTTGGTTATATGAATGAATCTTCCCTGTGTGTCTCCACATGGTCTTTCCTCTGTGTGTATATGTGTCCTAATCTCTTCTTCTTTTAAAAACAGGAGTCAGATTGGATTGGGGCCCACCAGAATGACCTCATCATAACTTAATTCCCTTTTTAAAGACCCTATTTCCAAATGCACTCACATTCTGAGATACTGGGGGGTTAGGACTTCGACATGTCAATTTTGCCAGGAGCACCATTCAGCCCGTAACATCAGGGTAGGTCTCATTGAGGACATGAGATACAAAGACCAAAGGAGGTAAGTGTGTCCGGAGTTGGTTCCTGCCGGTAGGTTTGTGGCCTCGCTGACTTCAAAAATGGAGCCGCGGACCTTTGCAGTGAGTGTTACAGCTCTTAAAGATGGCATGGACCCAAAGAATGAGTGGTAGCAACATTTATTGTGAAGAGCAAAAGAAGAAAGCTTCCA | pathogenic | 106,021 |
Evaluate the clinical significance of the mutation at chromosome 6, position 24503385 in gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | GTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGTGAGGTATGATCACACCACTGCACTTCAGCCTGGGTGACAGAACAAAACCCTGTCTCTTTTTTAAAATTTTTTTAAATTTTTGATTTTTTTTATTTGTGTGCTTTTCATTGTCCAAACCCAGACCCTGTCTCAAAAACAAACAATCAAAAAACACAGAAGTTCAATGTATGTTTCCCCAAGCATCTTACTCAGGGTTGTCCAGAAAAATAGAACCAATGTTTTATATATATATATATATATATGTGTGTGTGTGTGTGTGGGTGTATATATATATGTGTGTGTGTGTATATATATATGTGTATGTGTGTATATATATAATCATAGATATGTAGGAATATAGGAAGAGACTTCTTATAAAGGACTGGCTCATGTGACTGTGGATGCTAAGAAGTCCCACCCTCTGCTGTCTGCAAGCTGGAGACCTAAGAAAGCTGATATGTCCAGTCTGAGTTCCAGACTGGGTCCAAAGTCCTGAGTACCAGGAATGACAATGTCTGGTGTCTGACAACAGGAGGAAATGGATGTCCTAGCTCATGCAGAGAGTGAATTTGCTCTTCCTCTGCCACTTTGTTCTTTTCAGGTTCTCAGCAGATTGGATGATACCCACCTGAATTTTTGAAGGCAAATCTTCTTTATTCAGTCTACTGATTCAAATGCTAATCTCTTCCGAAAACACTCACGGACATACCCAGAAATGATGTTTTACCAGCTATCTGGGTCTCCCAGTCAAATTTACACATAAAATTAACCATTACAACCAAGGAGAATGAGACCATACAGCTAATATTTTAGGATATTGAATTTTATTTAGCATTCTGTCTTACACTTGGCATTTTATTACTTTTCTGCCTTGTTATTTCTTTTGCAGGAGAGGAGTTCATTACTTCGGAAGTGGTACAATTTAATGATACAAAATAAGGATGACCTTGCCAGAATAATCACAGCTGAAAGTGTAAGTTCAGGGTTCTGGCTTGGTGCACTGAGAAATTCTCCAGGAATTTTTACACTAAACTTGGGAAAGCCGCTGACTTCCCTTCACTGCTGGCTGTAGCTGAAGAATATGTGATTCCTTCTCTACTGATCAAATACCAAATCATTATTGTGCCAGGGTACTTAGATTTGCTAAAATAATATTTGTATGTTCTAGTTTATTCTTTAATAGTATCCAAAAATAGATTTTGTTTGCAACTATATGAATAACTGCTGTTTCACCATTCTGATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAAGGTAATACGTGGGTTCTTTTCTGATTTAATTTAGGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGGTAGGTGACAGGATCAGCAAGATCCTAGGGTGGGAGATTGGATAGGGAGTTGGGAAACAATTCATTCTTCCTCGTGAGCAGGTGTGCTCATCCTGTTAGTTTTGTCACCTGTTCCTGGTTTCCTGATGCTTTTGCTGGATGTGGAAGTGTGTTTCCTAGTCCTCTGTGATGATGTTAGGTGTGGTGGCAGTGAGTGGAATGATGCATTTCTAATGCCTGCAAAAGTGGGATGAGCCGCAGGAGGACCCAGGGGCTCTTCTGACTTGGCATGGAGGCTTCTTCCTGGCATTGCCTAGCACCTCTGAAAAGATCTTCCAGTATTTATCATTTTTAAAAAGACTTAAGATATGATACATTTTTAAACTTGCCATAGTTTGGAAAAAAGTGTTATGCTTAATTGATGGTTATCATCAATAACAAAGCATTTGTGGACCCACTAGCAGGCACTGGGCCAGGTTCTAGAGGTAAAAAGGCTAAGAAATAAGGTATCACATCTGCCTGGATGGGGCTGCAGTATATTTGTGGAACGCCCAGCTTTCCTTCTGGGTCCTGCCTTCTACTAGGTCCCATATTAACCTCTCTCCTGTATCTGTCAGCTGGTCTCGAGACGTCTGTGTTTTTCCTGCTCAGCATAGTTACAGACAGAATCCCCCTGATTGCCTAGACTGGCTAGGTTTGACTTGAAGGTCACTATTTACTAAATGTGCAACCTTGGCCAAATTACTTAACTGCACTGTCTCCGTTTTCTTGAACTTGCAAATGAGGTTAATATCAACCTCATTGGGTTGTGATAAGGATTTAATTAATTTTAATTTTGAAGTACTTAGAAAAATACCTGATACAGAGTAAGTACTATATAATAGAGTTTTTCAAAATAAAATAAAATACTGTTATTATAGGTATATGTATAGGCATTTATAAATATGTATGTGGAAGGAATAATAAATCATCTGCCATTTTCAAAACCATTGCTAATACTTACTCCCATGGGCCTCAGGCCAAATCCAGCCCACTGCCTATGTTTGTAAATAAAGTTTTATTGGGACACAGCCACACCCATTCATACACCTACTATCTGTGGCTGTTTTCACAATACAGCTGCAGAGTTGAGTAATTGCCATAGAAACCATACATTCTACAAAGCCTAAAAAATTTACGATCTGGCCCTTCACAGAAAAAGTTGGCTGACCCCTGGTCTAACTAATTTTTTACTGTGTTAAATTCTAAAAATATTTCCTGTCTTCAAGAGCCTTTATCTCAGAGTCCCTCAAGTTGGCGGGGGGGTCAGGTGTTCTGAGAGCTCACCTGTGCAGCCAAACGGGTTTGTCAATCAGTTGTGCAATGAAATTTGTTCACTGACTTCCCAACATGCCTTCCTTTGCACTAAGGAGGTGGTCCTTCCTCTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGGTGAGCCGCTCTCCCTGTGTTTGTACAAAGCAGACAAAGTTCAAAAATTGATGTTTATCTGGGACAGAAAGAAGCAATTTTGGAGCCTACTTCTTTGCTTACGCCTCCTGATGCATGGTGTTGTGTATTAATCTACTGGTGATTACTTTAAGTCAGCTGTAGCTCTTTTGGGAAAAAAATGGATGAGGGATCTTCTGACATCTGCAGGCCATATGTTTTCAGCCTACTGTAAAATGGTATCTATCCATCATCTTCATAAACTAGGCACTTAAACATGGGTGTTTCTCACATTTAGGAAACTTCTTATTTCCCATTCCCATTCCCAGTTCAATCTGCATTCCATTAGATCTTATTCTTTTGTTTGAAAACCTCAAGTGGCCTCTTGTGTCACTCACTCAGAGTAAAGTCCAGATTCCTTAGTGGCTTTCAAGGTCCTATGTCACTTCC | GTCCTCTAGAAATAGGTTAAACTGAATCAACTTGATGGAAGGAACTCTCCACAGGGCTTGTTTTCCAAAGAAAAGTATAGTTTGGAGAAGCAAAGTTACAAGCCTACCTAAGCATATCATAAAGCTGTTCAGAAATAACTCAGAGCCAGTCTCGTGGATGGAAATGTAGTGCCTGAGTCACATTCTGCTTAAAGTTGTAACAGACACAGAGGAGTTAAAAAAATAGCTGAGCGTGATGATGTGTGCCTGTGGTCCCAGCTACTCAGTAGTAGGCTGAGCTGGGGGGATCACTTGAACCAAGGAAGCAGAGGTTGCAGTGAGGTATGATCACACCACTGCACTTCAGCCTGGGTGACAGAACAAAACCCTGTCTCTTTTTTAAAATTTTTTTAAATTTTTGATTTTTTTTATTTGTGTGCTTTTCATTGTCCAAACCCAGACCCTGTCTCAAAAACAAACAATCAAAAAACACAGAAGTTCAATGTATGTTTCCCCAAGCATCTTACTCAGGGTTGTCCAGAAAAATAGAACCAATGTTTTATATATATATATATATATATGTGTGTGTGTGTGTGTGGGTGTATATATATATGTGTGTGTGTGTATATATATATGTGTATGTGTGTATATATATAATCATAGATATGTAGGAATATAGGAAGAGACTTCTTATAAAGGACTGGCTCATGTGACTGTGGATGCTAAGAAGTCCCACCCTCTGCTGTCTGCAAGCTGGAGACCTAAGAAAGCTGATATGTCCAGTCTGAGTTCCAGACTGGGTCCAAAGTCCTGAGTACCAGGAATGACAATGTCTGGTGTCTGACAACAGGAGGAAATGGATGTCCTAGCTCATGCAGAGAGTGAATTTGCTCTTCCTCTGCCACTTTGTTCTTTTCAGGTTCTCAGCAGATTGGATGATACCCACCTGAATTTTTGAAGGCAAATCTTCTTTATTCAGTCTACTGATTCAAATGCTAATCTCTTCCGAAAACACTCACGGACATACCCAGAAATGATGTTTTACCAGCTATCTGGGTCTCCCAGTCAAATTTACACATAAAATTAACCATTACAACCAAGGAGAATGAGACCATACAGCTAATATTTTAGGATATTGAATTTTATTTAGCATTCTGTCTTACACTTGGCATTTTATTACTTTTCTGCCTTGTTATTTCTTTTGCAGGAGAGGAGTTCATTACTTCGGAAGTGGTACAATTTAATGATACAAAATAAGGATGACCTTGCCAGAATAATCACAGCTGAAAGTGTAAGTTCAGGGTTCTGGCTTGGTGCACTGAGAAATTCTCCAGGAATTTTTACACTAAACTTGGGAAAGCCGCTGACTTCCCTTCACTGCTGGCTGTAGCTGAAGAATATGTGATTCCTTCTCTACTGATCAAATACCAAATCATTATTGTGCCAGGGTACTTAGATTTGCTAAAATAATATTTGTATGTTCTAGTTTATTCTTTAATAGTATCCAAAAATAGATTTTGTTTGCAACTATATGAATAACTGCTGTTTCACCATTCTGATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAAGGTAATACGTGGGTTCTTTTCTGATTTAATTTAGGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTTTGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGGTAGGTGACAGGATCAGCAAGATCCTAGGGTGGGAGATTGGATAGGGAGTTGGGAAACAATTCATTCTTCCTCGTGAGCAGGTGTGCTCATCCTGTTAGTTTTGTCACCTGTTCCTGGTTTCCTGATGCTTTTGCTGGATGTGGAAGTGTGTTTCCTAGTCCTCTGTGATGATGTTAGGTGTGGTGGCAGTGAGTGGAATGATGCATTTCTAATGCCTGCAAAAGTGGGATGAGCCGCAGGAGGACCCAGGGGCTCTTCTGACTTGGCATGGAGGCTTCTTCCTGGCATTGCCTAGCACCTCTGAAAAGATCTTCCAGTATTTATCATTTTTAAAAAGACTTAAGATATGATACATTTTTAAACTTGCCATAGTTTGGAAAAAAGTGTTATGCTTAATTGATGGTTATCATCAATAACAAAGCATTTGTGGACCCACTAGCAGGCACTGGGCCAGGTTCTAGAGGTAAAAAGGCTAAGAAATAAGGTATCACATCTGCCTGGATGGGGCTGCAGTATATTTGTGGAACGCCCAGCTTTCCTTCTGGGTCCTGCCTTCTACTAGGTCCCATATTAACCTCTCTCCTGTATCTGTCAGCTGGTCTCGAGACGTCTGTGTTTTTCCTGCTCAGCATAGTTACAGACAGAATCCCCCTGATTGCCTAGACTGGCTAGGTTTGACTTGAAGGTCACTATTTACTAAATGTGCAACCTTGGCCAAATTACTTAACTGCACTGTCTCCGTTTTCTTGAACTTGCAAATGAGGTTAATATCAACCTCATTGGGTTGTGATAAGGATTTAATTAATTTTAATTTTGAAGTACTTAGAAAAATACCTGATACAGAGTAAGTACTATATAATAGAGTTTTTCAAAATAAAATAAAATACTGTTATTATAGGTATATGTATAGGCATTTATAAATATGTATGTGGAAGGAATAATAAATCATCTGCCATTTTCAAAACCATTGCTAATACTTACTCCCATGGGCCTCAGGCCAAATCCAGCCCACTGCCTATGTTTGTAAATAAAGTTTTATTGGGACACAGCCACACCCATTCATACACCTACTATCTGTGGCTGTTTTCACAATACAGCTGCAGAGTTGAGTAATTGCCATAGAAACCATACATTCTACAAAGCCTAAAAAATTTACGATCTGGCCCTTCACAGAAAAAGTTGGCTGACCCCTGGTCTAACTAATTTTTTACTGTGTTAAATTCTAAAAATATTTCCTGTCTTCAAGAGCCTTTATCTCAGAGTCCCTCAAGTTGGCGGGGGGGTCAGGTGTTCTGAGAGCTCACCTGTGCAGCCAAACGGGTTTGTCAATCAGTTGTGCAATGAAATTTGTTCACTGACTTCCCAACATGCCTTCCTTTGCACTAAGGAGGTGGTCCTTCCTCTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGGTGAGCCGCTCTCCCTGTGTTTGTACAAAGCAGACAAAGTTCAAAAATTGATGTTTATCTGGGACAGAAAGAAGCAATTTTGGAGCCTACTTCTTTGCTTACGCCTCCTGATGCATGGTGTTGTGTATTAATCTACTGGTGATTACTTTAAGTCAGCTGTAGCTCTTTTGGGAAAAAAATGGATGAGGGATCTTCTGACATCTGCAGGCCATATGTTTTCAGCCTACTGTAAAATGGTATCTATCCATCATCTTCATAAACTAGGCACTTAAACATGGGTGTTTCTCACATTTAGGAAACTTCTTATTTCCCATTCCCATTCCCAGTTCAATCTGCATTCCATTAGATCTTATTCTTTTGTTTGAAAACCTCAAGTGGCCTCTTGTGTCACTCACTCAGAGTAAAGTCCAGATTCCTTAGTGGCTTTCAAGGTCCTATGT | pathogenic | 106,032 |
Mutation at chromosome 6, position 24504876, within ALDH5A1 (aldehyde dehydrogenase 5 family member A1): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | AGATTTTGTTTGCAACTATATGAATAACTGCTGTTTCACCATTCTGATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAAGGTAATACGTGGGTTCTTTTCTGATTTAATTTAGGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGGTAGGTGACAGGATCAGCAAGATCCTAGGGTGGGAGATTGGATAGGGAGTTGGGAAACAATTCATTCTTCCTCGTGAGCAGGTGTGCTCATCCTGTTAGTTTTGTCACCTGTTCCTGGTTTCCTGATGCTTTTGCTGGATGTGGAAGTGTGTTTCCTAGTCCTCTGTGATGATGTTAGGTGTGGTGGCAGTGAGTGGAATGATGCATTTCTAATGCCTGCAAAAGTGGGATGAGCCGCAGGAGGACCCAGGGGCTCTTCTGACTTGGCATGGAGGCTTCTTCCTGGCATTGCCTAGCACCTCTGAAAAGATCTTCCAGTATTTATCATTTTTAAAAAGACTTAAGATATGATACATTTTTAAACTTGCCATAGTTTGGAAAAAAGTGTTATGCTTAATTGATGGTTATCATCAATAACAAAGCATTTGTGGACCCACTAGCAGGCACTGGGCCAGGTTCTAGAGGTAAAAAGGCTAAGAAATAAGGTATCACATCTGCCTGGATGGGGCTGCAGTATATTTGTGGAACGCCCAGCTTTCCTTCTGGGTCCTGCCTTCTACTAGGTCCCATATTAACCTCTCTCCTGTATCTGTCAGCTGGTCTCGAGACGTCTGTGTTTTTCCTGCTCAGCATAGTTACAGACAGAATCCCCCTGATTGCCTAGACTGGCTAGGTTTGACTTGAAGGTCACTATTTACTAAATGTGCAACCTTGGCCAAATTACTTAACTGCACTGTCTCCGTTTTCTTGAACTTGCAAATGAGGTTAATATCAACCTCATTGGGTTGTGATAAGGATTTAATTAATTTTAATTTTGAAGTACTTAGAAAAATACCTGATACAGAGTAAGTACTATATAATAGAGTTTTTCAAAATAAAATAAAATACTGTTATTATAGGTATATGTATAGGCATTTATAAATATGTATGTGGAAGGAATAATAAATCATCTGCCATTTTCAAAACCATTGCTAATACTTACTCCCATGGGCCTCAGGCCAAATCCAGCCCACTGCCTATGTTTGTAAATAAAGTTTTATTGGGACACAGCCACACCCATTCATACACCTACTATCTGTGGCTGTTTTCACAATACAGCTGCAGAGTTGAGTAATTGCCATAGAAACCATACATTCTACAAAGCCTAAAAAATTTACGATCTGGCCCTTCACAGAAAAAGTTGGCTGACCCCTGGTCTAACTAATTTTTTACTGTGTTAAATTCTAAAAATATTTCCTGTCTTCAAGAGCCTTTATCTCAGAGTCCCTCAAGTTGGCGGGGGGGTCAGGTGTTCTGAGAGCTCACCTGTGCAGCCAAACGGGTTTGTCAATCAGTTGTGCAATGAAATTTGTTCACTGACTTCCCAACATGCCTTCCTTTGCACTAAGGAGGTGGTCCTTCCTCTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGGTGAGCCGCTCTCCCTGTGTTTGTACAAAGCAGACAAAGTTCAAAAATTGATGTTTATCTGGGACAGAAAGAAGCAATTTTGGAGCCTACTTCTTTGCTTACGCCTCCTGATGCATGGTGTTGTGTATTAATCTACTGGTGATTACTTTAAGTCAGCTGTAGCTCTTTTGGGAAAAAAATGGATGAGGGATCTTCTGACATCTGCAGGCCATATGTTTTCAGCCTACTGTAAAATGGTATCTATCCATCATCTTCATAAACTAGGCACTTAAACATGGGTGTTTCTCACATTTAGGAAACTTCTTATTTCCCATTCCCATTCCCAGTTCAATCTGCATTCCATTAGATCTTATTCTTTTGTTTGAAAACCTCAAGTGGCCTCTTGTGTCACTCACTCAGAGTAAAGTCCAGATTCCTTAGTGGCTTTCAAGGTCCTATGTCACTTCCCACCCCCCCAGTATGTCTCTGACTTCGTCCATCACACTGGAACCCCTCACTCTTCATTCATCTGCTTGGACCACTCTGGCCCCTGCCGCTTTCCAGACCCCGCCAGCCTTGCCCTCCACTCAAACTTTATACTTTCCCTCTGTCTGGAGCAGTCTCCCCCAGATACCCCTATAACTTGCTTCTTCACGTCTTCACTCAAATTCCTCTCTCCCAGGGAGGCCTTCCATGGCCACCCTGTCTAAAAATCACAATTTGGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGAACTATGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCATGTGCATGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCGAGATGGTGTCACTGAACTCCAGCCTGGGCAACAGAGTGAGACTCAGTCTCAAAAAAAAAAATCACAACCTCACACTCTGATCCTCCTGATCCCCTCCTCTGCTTTGCTTTTTCCCCCAGAACACCTAAAACTACCTACCCTATCACTATTTGTAGGCCTTTTCAGTGGGCAGGGCTAGGAGATATACATATATGTGTACACATGTGTACACACACAATAAAATGCTGCAGAAATTCCTATAGAAACTTCGAATTCAAATTCAGTCCTATAGAGTTTTTACTTAATTTATTTTATATTATATCTGCACCTCCTTCTTTCCTGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGGGTCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCGTCACCACACCCAGCTAATTTTTGTATTTTTTGGAGAGACTGGGTTTCACCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCGGCCTCTTTCCTGGTTTCTAAAGACTCAGGAAATGACTGAATTAATATTCTGTATGTACTCATTATACAGAACAACAGCTTCTGAATATCAATTTTATTTGTTTTAAATATTAATTTTAATATCACCAATGTGCCTATTGAAAATGGTTTACTTTTTTGGTATTTTCTCTTTCCATTCTCATTTTTAGTAATAAACTTTTATTTTAGAATAGTTTTACATTTACAGAAAAATTGCATAGATGGGCTATTTCCCACATACCCCACATTCAATTTCTCCTATTACTAGCAGCTTACATTAGTATATTTGTTACAATTAATGAATCAATAGTGATACGTTGTTATTAACTAAAGTCCATACTTTAAAATCCATTCTCAGA | AGATTTTGTTTGCAACTATATGAATAACTGCTGTTTCACCATTCTGATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAAGGTAATACGTGGGTTCTTTTCTGATTTAATTTAGGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGGTAGGTGACAGGATCAGCAAGATCCTAGGGTGGGAGATTGGATAGGGAGTTGGGAAACAATTCATTCTTCCTCGTGAGCAGGTGTGCTCATCCTGTTAGTTTTGTCACCTGTTCCTGGTTTCCTGATGCTTTTGCTGGATGTGGAAGTGTGTTTCCTAGTCCTCTGTGATGATGTTAGGTGTGGTGGCAGTGAGTGGAATGATGCATTTCTAATGCCTGCAAAAGTGGGATGAGCCGCAGGAGGACCCAGGGGCTCTTCTGACTTGGCATGGAGGCTTCTTCCTGGCATTGCCTAGCACCTCTGAAAAGATCTTCCAGTATTTATCATTTTTAAAAAGACTTAAGATATGATACATTTTTAAACTTGCCATAGTTTGGAAAAAAGTGTTATGCTTAATTGATGGTTATCATCAATAACAAAGCATTTGTGGACCCACTAGCAGGCACTGGGCCAGGTTCTAGAGGTAAAAAGGCTAAGAAATAAGGTATCACATCTGCCTGGATGGGGCTGCAGTATATTTGTGGAACGCCCAGCTTTCCTTCTGGGTCCTGCCTTCTACTAGGTCCCATATTAACCTCTCTCCTGTATCTGTCAGCTGGTCTCGAGACGTCTGTGTTTTTCCTGCTCAGCATAGTTACAGACAGAATCCCCCTGATTGCCTAGACTGGCTAGGTTTGACTTGAAGGTCACTATTTACTAAATGTGCAACCTTGGCCAAATTACTTAACTGCACTGTCTCCGTTTTCTTGAACTTGCAAATGAGGTTAATATCAACCTCATTGGGTTGTGATAAGGATTTAATTAATTTTAATTTTGAAGTACTTAGAAAAATACCTGATACAGAGTAAGTACTATATAATAGAGTTTTTCAAAATAAAATAAAATACTGTTATTATAGGTATATGTATAGGCATTTATAAATATGTATGTGGAAGGAATAATAAATCATCTGCCATTTTCAAAACCATTGCTAATACTTACTCCCATGGGCCTCAGGCCAAATCCAGCCCACTGCCTATGTTTGTAAATAAAGTTTTATTGGGACACAGCCACACCCATTCATACACCTACTATCTGTGGCTGTTTTCACAATACAGCTGCAGAGTTGAGTAATTGCCATAGAAACCATACATTCTACAAAGCCTAAAAAATTTACGATCTGGCCCTTCACAGAAAAAGTTGGCTGACCCCTGGTCTAACTAATTTTTTACTGTGTTAAATTCTAAAAATATTTCCTGTCTTCAAGAGCCTTTATCTCAGAGTCCCTCAAGTTGGCGGGGGGGTCAGGTGTTCTGAGAGCTCACCTGTGCAGCCAAACGGGTTTGTCAATCAGTTGTGCAATGAAATTTGTTCACTGACTTCCCAACATGCCTTCCTTTGCACTAAGGAGGTGGTCCTTCCTCTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGGTGAGCCGCTCTCCCTGTGTTTGTACAAAGCAGACAAAGTTCAAAAATTGATGTTTATCTGGGACAGAAAGAAGCAATTTTGGAGCCTACTTCTTTGCTTACGCCTCCTGATGCATGGTGTTGTGTATTAATCTACTGGTGATTACTTTAAGTCAGCTGTAGCTCTTTTGGGAAAAAAATGGATGAGGGATCTTCTGACATCTGCAGGCCATATGTTTTCAGCCTACTGTAAAATGGTATCTATCCATCATCTTCATAAACTAGGCACTTAAACATGGGTGTTTCTCACATTTAGGAAACTTCTTATTTCCCATTCCCATTCCCAGTTCAATCTGCATTCCATTAGATCTTATTCTTTTGTTTGAAAACCTCAAGTGGCCTCTTGTGTCACTCACTCAGAGTAAAGTCCAGATTCCTTAGTGGCTTTCAAGGTCCTATGTCACTTCCCACCCCCCCAGTATGTCTCTGACTTCGTCCATCACACTGGAACCCCTCACTCTTCATTCATCTGCTTGGACCACTCTGGCCCCTGCCGCTTTCCAGACCCCGCCAGCCTTGCCCTCCACTCAAACTTTATACTTTCCCTCTGTCTGGAGCAGTCTCCCCCAGATACCCCTATAACTTGCTTCTTCACGTCTTCACTCAAATTCCTCTCTCCCAGGGAGGCCTTCCATGGCCACCCTGTCTAAAAATCACAATTTGGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGAACTATGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCATGTGCATGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCGAGATGGTGTCACTGAACTCCAGCCTGGGCAACAGAGTGAGACTCAGTCTCAAAAAAAAAAATCACAACCTCACACTCTGATCCTCCTGATCCCCTCCTCTGCTTTGCTTTTTCCCCCAGAACACCTAAAACTACCTACCCTATCACTATTTGTAGGCCTTTTCAGTGGGCAGGGCTAGGAGATATACATATATGTGTACACATGTGTACACACACAATAAAATGCTGCAGAAATTCCTATAGAAACTTCGAATTCAAATTCAGTCCTATAGAGTTTTTACTTAATTTATTTTATATTATATCTGCACCTCCTTCTTTCCTGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGGGTCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCGTCACCACACCCAGCTAATTTTTGTATTTTTTGGAGAGACTGGGTTTCACCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCGGCCTCTTTCCTGGTTTCTAAAGACTCAGGAAATGACTGAATTAATATTCTGTATGTACTCATTATACAGAACAACAGCTTCTGAATATCAATTTTATTTGTTTTAAATATTAATTTTAATATCACCAATGTGCCTATTGAAAATGGTTTACTTTTTTGGTATTTTCTCTTTCCATTCTCATTTTTAGTAATAAACTTTTATTTTAGAATAGTTTTACATTTACAGAAAAATTGCATAGATGGGCTATTTCCCACATACCCCACATTCAATTTCTCCTATTACTAGCAGCTTACATTAGTATATTTGTTACAATTAATGAATCAATAGTGATACGTTGTTATTAACTAAAGTCCATACTTTAAAATCCATTCTCAGAN | pathogenic | 106,040 |
A genetic variant on chromosome 6, position 24504922, affects the gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | ATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAAGGTAATACGTGGGTTCTTTTCTGATTTAATTTAGGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGGTAGGTGACAGGATCAGCAAGATCCTAGGGTGGGAGATTGGATAGGGAGTTGGGAAACAATTCATTCTTCCTCGTGAGCAGGTGTGCTCATCCTGTTAGTTTTGTCACCTGTTCCTGGTTTCCTGATGCTTTTGCTGGATGTGGAAGTGTGTTTCCTAGTCCTCTGTGATGATGTTAGGTGTGGTGGCAGTGAGTGGAATGATGCATTTCTAATGCCTGCAAAAGTGGGATGAGCCGCAGGAGGACCCAGGGGCTCTTCTGACTTGGCATGGAGGCTTCTTCCTGGCATTGCCTAGCACCTCTGAAAAGATCTTCCAGTATTTATCATTTTTAAAAAGACTTAAGATATGATACATTTTTAAACTTGCCATAGTTTGGAAAAAAGTGTTATGCTTAATTGATGGTTATCATCAATAACAAAGCATTTGTGGACCCACTAGCAGGCACTGGGCCAGGTTCTAGAGGTAAAAAGGCTAAGAAATAAGGTATCACATCTGCCTGGATGGGGCTGCAGTATATTTGTGGAACGCCCAGCTTTCCTTCTGGGTCCTGCCTTCTACTAGGTCCCATATTAACCTCTCTCCTGTATCTGTCAGCTGGTCTCGAGACGTCTGTGTTTTTCCTGCTCAGCATAGTTACAGACAGAATCCCCCTGATTGCCTAGACTGGCTAGGTTTGACTTGAAGGTCACTATTTACTAAATGTGCAACCTTGGCCAAATTACTTAACTGCACTGTCTCCGTTTTCTTGAACTTGCAAATGAGGTTAATATCAACCTCATTGGGTTGTGATAAGGATTTAATTAATTTTAATTTTGAAGTACTTAGAAAAATACCTGATACAGAGTAAGTACTATATAATAGAGTTTTTCAAAATAAAATAAAATACTGTTATTATAGGTATATGTATAGGCATTTATAAATATGTATGTGGAAGGAATAATAAATCATCTGCCATTTTCAAAACCATTGCTAATACTTACTCCCATGGGCCTCAGGCCAAATCCAGCCCACTGCCTATGTTTGTAAATAAAGTTTTATTGGGACACAGCCACACCCATTCATACACCTACTATCTGTGGCTGTTTTCACAATACAGCTGCAGAGTTGAGTAATTGCCATAGAAACCATACATTCTACAAAGCCTAAAAAATTTACGATCTGGCCCTTCACAGAAAAAGTTGGCTGACCCCTGGTCTAACTAATTTTTTACTGTGTTAAATTCTAAAAATATTTCCTGTCTTCAAGAGCCTTTATCTCAGAGTCCCTCAAGTTGGCGGGGGGGTCAGGTGTTCTGAGAGCTCACCTGTGCAGCCAAACGGGTTTGTCAATCAGTTGTGCAATGAAATTTGTTCACTGACTTCCCAACATGCCTTCCTTTGCACTAAGGAGGTGGTCCTTCCTCTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGGTGAGCCGCTCTCCCTGTGTTTGTACAAAGCAGACAAAGTTCAAAAATTGATGTTTATCTGGGACAGAAAGAAGCAATTTTGGAGCCTACTTCTTTGCTTACGCCTCCTGATGCATGGTGTTGTGTATTAATCTACTGGTGATTACTTTAAGTCAGCTGTAGCTCTTTTGGGAAAAAAATGGATGAGGGATCTTCTGACATCTGCAGGCCATATGTTTTCAGCCTACTGTAAAATGGTATCTATCCATCATCTTCATAAACTAGGCACTTAAACATGGGTGTTTCTCACATTTAGGAAACTTCTTATTTCCCATTCCCATTCCCAGTTCAATCTGCATTCCATTAGATCTTATTCTTTTGTTTGAAAACCTCAAGTGGCCTCTTGTGTCACTCACTCAGAGTAAAGTCCAGATTCCTTAGTGGCTTTCAAGGTCCTATGTCACTTCCCACCCCCCCAGTATGTCTCTGACTTCGTCCATCACACTGGAACCCCTCACTCTTCATTCATCTGCTTGGACCACTCTGGCCCCTGCCGCTTTCCAGACCCCGCCAGCCTTGCCCTCCACTCAAACTTTATACTTTCCCTCTGTCTGGAGCAGTCTCCCCCAGATACCCCTATAACTTGCTTCTTCACGTCTTCACTCAAATTCCTCTCTCCCAGGGAGGCCTTCCATGGCCACCCTGTCTAAAAATCACAATTTGGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGAACTATGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCATGTGCATGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCGAGATGGTGTCACTGAACTCCAGCCTGGGCAACAGAGTGAGACTCAGTCTCAAAAAAAAAAATCACAACCTCACACTCTGATCCTCCTGATCCCCTCCTCTGCTTTGCTTTTTCCCCCAGAACACCTAAAACTACCTACCCTATCACTATTTGTAGGCCTTTTCAGTGGGCAGGGCTAGGAGATATACATATATGTGTACACATGTGTACACACACAATAAAATGCTGCAGAAATTCCTATAGAAACTTCGAATTCAAATTCAGTCCTATAGAGTTTTTACTTAATTTATTTTATATTATATCTGCACCTCCTTCTTTCCTGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGGGTCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCGTCACCACACCCAGCTAATTTTTGTATTTTTTGGAGAGACTGGGTTTCACCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCGGCCTCTTTCCTGGTTTCTAAAGACTCAGGAAATGACTGAATTAATATTCTGTATGTACTCATTATACAGAACAACAGCTTCTGAATATCAATTTTATTTGTTTTAAATATTAATTTTAATATCACCAATGTGCCTATTGAAAATGGTTTACTTTTTTGGTATTTTCTCTTTCCATTCTCATTTTTAGTAATAAACTTTTATTTTAGAATAGTTTTACATTTACAGAAAAATTGCATAGATGGGCTATTTCCCACATACCCCACATTCAATTTCTCCTATTACTAGCAGCTTACATTAGTATATTTGTTACAATTAATGAATCAATAGTGATACGTTGTTATTAACTAAAGTCCATACTTTAAAATCCATTCTCAGATTTTATTAGTCTGTACCTAGTCTCCTTTTTCTGTTTCAGGATCTGG | ATTTTTTTCCATGTTACTGTTTTGGTTGTTTTTTTTTTTAAACTTGTTTTTGTACATTTTTTAATGTACCAATACTTCTTCCATAGATATAATAAATTATTTCATATCGTGGTTACAATACTTAGAAGATATTGAAAGGAGGAAAAAATTAGATGTTTCCTAATTTGTAAACATATTGAGAATGCAATGACTTGTGGTTTAGGGTGATACATTCATCATTGTAATTCTGCTTTTTAAAACTCACACCAAAGTCAGAAATTTTCCCCACTCTATGGGTATCGTTATAGGAGACTTTTCTACTCTTGTTGCATCTTGAAGAATTTAGGAACACAGAGCCATGCTTTTATTATTAGAAGGTAATACGTGGGTTCTTTTCTGATTTAATTTAGGGAAAGCCACTGAAGGAGGCACATGGAGAAATTCTCTATTCCGCCTTTTTCCTAGAGTGGTTCTCTGAGGAAGCCCGCCGTGTTTACGGAGACATTATCCACACCCCGGCAAAGGACAGGCGGGCCCTGGTCCTCAAGCAGCCCATAGGCGTGGCTGCAGTCATCACCCCGGTAGGTGACAGGATCAGCAAGATCCTAGGGTGGGAGATTGGATAGGGAGTTGGGAAACAATTCATTCTTCCTCGTGAGCAGGTGTGCTCATCCTGTTAGTTTTGTCACCTGTTCCTGGTTTCCTGATGCTTTTGCTGGATGTGGAAGTGTGTTTCCTAGTCCTCTGTGATGATGTTAGGTGTGGTGGCAGTGAGTGGAATGATGCATTTCTAATGCCTGCAAAAGTGGGATGAGCCGCAGGAGGACCCAGGGGCTCTTCTGACTTGGCATGGAGGCTTCTTCCTGGCATTGCCTAGCACCTCTGAAAAGATCTTCCAGTATTTATCATTTTTAAAAAGACTTAAGATATGATACATTTTTAAACTTGCCATAGTTTGGAAAAAAGTGTTATGCTTAATTGATGGTTATCATCAATAACAAAGCATTTGTGGACCCACTAGCAGGCACTGGGCCAGGTTCTAGAGGTAAAAAGGCTAAGAAATAAGGTATCACATCTGCCTGGATGGGGCTGCAGTATATTTGTGGAACGCCCAGCTTTCCTTCTGGGTCCTGCCTTCTACTAGGTCCCATATTAACCTCTCTCCTGTATCTGTCAGCTGGTCTCGAGACGTCTGTGTTTTTCCTGCTCAGCATAGTTACAGACAGAATCCCCCTGATTGCCTAGACTGGCTAGGTTTGACTTGAAGGTCACTATTTACTAAATGTGCAACCTTGGCCAAATTACTTAACTGCACTGTCTCCGTTTTCTTGAACTTGCAAATGAGGTTAATATCAACCTCATTGGGTTGTGATAAGGATTTAATTAATTTTAATTTTGAAGTACTTAGAAAAATACCTGATACAGAGTAAGTACTATATAATAGAGTTTTTCAAAATAAAATAAAATACTGTTATTATAGGTATATGTATAGGCATTTATAAATATGTATGTGGAAGGAATAATAAATCATCTGCCATTTTCAAAACCATTGCTAATACTTACTCCCATGGGCCTCAGGCCAAATCCAGCCCACTGCCTATGTTTGTAAATAAAGTTTTATTGGGACACAGCCACACCCATTCATACACCTACTATCTGTGGCTGTTTTCACAATACAGCTGCAGAGTTGAGTAATTGCCATAGAAACCATACATTCTACAAAGCCTAAAAAATTTACGATCTGGCCCTTCACAGAAAAAGTTGGCTGACCCCTGGTCTAACTAATTTTTTACTGTGTTAAATTCTAAAAATATTTCCTGTCTTCAAGAGCCTTTATCTCAGAGTCCCTCAAGTTGGCGGGGGGGTCAGGTGTTCTGAGAGCTCACCTGTGCAGCCAAACGGGTTTGTCAATCAGTTGTGCAATGAAATTTGTTCACTGACTTCCCAACATGCCTTCCTTTGCACTAAGGAGGTGGTCCTTCCTCTCACATACTTCCTCTGCTCTTCTAACCCCAGTGGAATTTCCCCAGTGCCATGATCACCCGGAAGGTGGGGGCCGCCCTGGCAGCCGCTGTACTGTCGTGGTGAAGCCTGCCGAAGACACGCCCTTCTCCGCCCTGGCCCTGGCTGAGGTGAGCCGCTCTCCCTGTGTTTGTACAAAGCAGACAAAGTTCAAAAATTGATGTTTATCTGGGACAGAAAGAAGCAATTTTGGAGCCTACTTCTTTGCTTACGCCTCCTGATGCATGGTGTTGTGTATTAATCTACTGGTGATTACTTTAAGTCAGCTGTAGCTCTTTTGGGAAAAAAATGGATGAGGGATCTTCTGACATCTGCAGGCCATATGTTTTCAGCCTACTGTAAAATGGTATCTATCCATCATCTTCATAAACTAGGCACTTAAACATGGGTGTTTCTCACATTTAGGAAACTTCTTATTTCCCATTCCCATTCCCAGTTCAATCTGCATTCCATTAGATCTTATTCTTTTGTTTGAAAACCTCAAGTGGCCTCTTGTGTCACTCACTCAGAGTAAAGTCCAGATTCCTTAGTGGCTTTCAAGGTCCTATGTCACTTCCCACCCCCCCAGTATGTCTCTGACTTCGTCCATCACACTGGAACCCCTCACTCTTCATTCATCTGCTTGGACCACTCTGGCCCCTGCCGCTTTCCAGACCCCGCCAGCCTTGCCCTCCACTCAAACTTTATACTTTCCCTCTGTCTGGAGCAGTCTCCCCCAGATACCCCTATAACTTGCTTCTTCACGTCTTCACTCAAATTCCTCTCTCCCAGGGAGGCCTTCCATGGCCACCCTGTCTAAAAATCACAATTTGGCTGGGCGTGGTGGCTCACACTTGTAATCTCAGAACTATGGGAGGCCAAGGTGGGCAAATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGACCAACATGCTGAAACCCTGTCTCTACTAAAAATACAAAATTAGCTGGGCGTGGTGGCATGTGCATGTAATCCCAGCTACTCAAGAGGCTGAGGCAGGAGAATCGCTTGAACCCTGGGGGCGGAGATTGCAGTGAGCCGAGATGGTGTCACTGAACTCCAGCCTGGGCAACAGAGTGAGACTCAGTCTCAAAAAAAAAAATCACAACCTCACACTCTGATCCTCCTGATCCCCTCCTCTGCTTTGCTTTTTCCCCCAGAACACCTAAAACTACCTACCCTATCACTATTTGTAGGCCTTTTCAGTGGGCAGGGCTAGGAGATATACATATATGTGTACACATGTGTACACACACAATAAAATGCTGCAGAAATTCCTATAGAAACTTCGAATTCAAATTCAGTCCTATAGAGTTTTTACTTAATTTATTTTATATTATATCTGCACCTCCTTCTTTCCTGGTTCCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGGGTCGCAATCTTGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTTTCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGATGCCCGTCACCACACCCAGCTAATTTTTGTATTTTTTGGAGAGACTGGGTTTCACCATCTTGGCCAGACTGGTCTTGAACTCCTGACCTCGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCACGCTCGGCCTCTTTCCTGGTTTCTAAAGACTCAGGAAATGACTGAATTAATATTCTGTATGTACTCATTATACAGAACAACAGCTTCTGAATATCAATTTTATTTGTTTTAAATATTAATTTTAATATCACCAATGTGCCTATTGAAAATGGTTTACTTTTTTGGTATTTTCTCTTTCCATTCTCATTTTTAGTAATAAACTTTTATTTTAGAATAGTTTTACATTTACAGAAAAATTGCATAGATGGGCTATTTCCCACATACCCCACATTCAATTTCTCCTATTACTAGCAGCTTACATTAGTATATTTGTTACAATTAATGAATCAATAGTGATACGTTGTTATTAACTAAAGTCCATACTTTAAAATCCATTCTCAGATTTTATTAGTCTGTACCTAGTCTCCTTTTTCTGTTTCAGGATCTGGN | pathogenic | 106,041 |
Chromosome 6, position 24515258, gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Succinate-semialdehyde_dehydrogenase_deficiency'] | CCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTTGTGTATCGTGTTCAAAGATAAGGTAGCTTGCTTCCTGGCTGGCTCCATCCCCTTCCCCTGTTTTTATCAGGGCCTCCTCATCTTTCATCACACGGCTCCCAGGGGCTGGACTCTCCATGCCCTTCATTCCTTATTGCAGCATCCCATGTACTCACCTACTATTGACATTGCAGCATCCCATGTACTCACCTACTATTGATAGGGCAAGGCCCTCCCACTTACAGCTGCTGTTCTCAGAGGAACAGCTGTGGACTATTTGGGGTTCTCTGTTATTGGGTATACCACACGGCCCGTTGCTGCCCCCTGCTTCCTCTCACACAGGTGCTGATATGACGGTCAGGTCTTGTCAACACAGGTGGTATATTCTTACCCACTTGTAATTTGTGGTTTGTGGAGATACCTTGTTGTAAATGTTTGTTGTAATTGTCTTGTGAATGTCTCTGAGATTTGGGGTTTGCTGTCTAATTGCTGTTTTCATGAGGATATTGAGGGAGACTCACAAACTCATCTTCCCAGAATCTCCAGTCAGATTTATGTAATAAGCTAATTGTTAATGGAATCCAGAAATTAAAATAATTCAGGATATGTCTTATCCAAAGGGAATCTCTATGGAAAGAGCATGAGTGTCCAGATCAGGTAGCTGTGGGTTTGCATGCGGGTTCTGTTACTAGCTGTGGCCTTGGCTGCATTCTTCTCTGCTATGCCTCCCTTTCTTCATCATCCCCCTGGGAAATCACCTATGGAAAGGCTTTGCACTGCTGCCCTGCACCTAGTAGGTGCTCATTAAATGCCCCTTTTCACTTTCCCACCCTTGATTCTACAGGTGAATCAAGTAACTTTTTTCTTGGCATCTCCTTTGATTTTTCTCAGGGCAGAAATTCAGGTTTTTTTATTTGCTTCTTTATTAGTTTGAACAGACCGTGGCATTGAAATGCATGCTCTGGCCAGGCCCGGTGGCTCACAACTGTAATCCAAACACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAAACCGTCTCTACTAAAACTACAAAAATTAGCCAGGCACGCACCTGTAATCCCAGCTACTCGGAAGGCTTAGGCAGGAGAATCACTTGAATCTGGGAGACAGAGGTTGCAATGAGTGGAGATTATGCCAATGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTTAAAAAAAAAAAAGAAAGAAAGAAACTTATACTCTAAGAATTTTGTTTGTTTGTTTGTTTTTTTGAGACAGGGTCTTGTTCTGTTCCCCAGGCTGGAGTGCAGTGGCGCAACCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCTCAACTCTGCCTCCCAAAGCGCTGAGATTACAGGCATGAGCCACCATGTCCGGTAGAAATTTTATTGTAATGATCTTTAACAACCCATTAATATTAACGTGACTTTAGCACTAATAAGAATTATATTTAAACTTCAAATATATTCTTAGTCTGTCCCCAGTGTCAGCTTAATTTTTCTTCCATTACTTTTTGGGTTAAGTATCTATTTATTTCTCTTTTCTTTTTTTTTTTTTTTTTTTCAGTTTGGTAAATTGTTGGCACATGTTTGCTGTTTCTCTTTATAGCTTGCAAGCCAGGCTGGGATTCCTTCAGGTGTATACAATGTTATTCCCTGTTCTCGAAAGAATGCCAAGGAAGTAGGGGAGGCAATTTGTACTGATCCTCTGGTGTCCAAAATTTCCTTTACTGGTTCAACAACTACAGGAAAGGTATGTGACTCAAGTTTCAAAGAAAACAAATGTCTTTCTAATATTTTATCTTGATAGGTTATAAAAATACTATTTCATCCTGATCACCAATTTTGGAAAGATTTCCAGCAGAGTGTTAAAAGCTCTGTCGCAGGCCAAGCACGGCGGCTCATGCCTGTAATTCCAGCACTTTGGGATGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCCTCACAGAAAATACAACAATTAACCAGGCATGGTGGTGCACACCCGTAATCCCAGGTACCCAGGTGACTGAGGCATGAGAATCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGACTGGGTGACAGAGCAGACTCTGTTTCAAAAAAAAGGTCTGTTGGTTGAATAAAGTAATATCTGACCATCCTCTGGGGATATTTTGGACAGTTCTTTGTGGCACGACATAGGTTCCTGCTTGACAAAACCAAAGAAATTGGGGCAGCGAGGGTCCCATTATTTTTGCATTATTTGTTGTATATGAAGTGGGTGAAAGTTCTCCACTGTATTTTTTTCAATTCTGGAATGCATCTTTCTTTCAATAATCTAGAGTTAGAGATTCCAGAAACACACAATTAATGTTGAAATGGATGTTTTTGAATTGAACAAAAATGTGTTTAGTCTAAAAGTACTTAGAGAAATGGAAAGGTCTTTTTCTTTGAGTTTTTTTTCCCTTAAATGATGAAATGTTCTTTGCTAAAAACTTAATGTGTATGCCTGTAAGTAGATGTTTATTTATCCTTTTAAATGTCCAAAAGAGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCAACTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCACCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTAAAAATTAAAAAAAATAAATAATAAAAAAATGTCCAAAAGAGAAAAAATCAAGGTGGAACAAAATTTTTGTTTATGGTGTTTCTCTTCAGATGGTGTGCTTTTTTCTACTAGTTTATATCTAGATATACACATATATGTATCTGTACTCACATTGTTCATGTCCATAAACACATAACAGATAAAATATATAAATCTGCCCAGGCGTGGTGGCTCACACCTGTAATCCTCACACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAGCCCAACCTAGACAACCTGGTGAAACCCTGTCTCTACAAAAAAAAAAATTAGCTGGGCTTAGTGGCACACACATGTAGTCCCAGCTACTTGGGAGGGTGAGGTGAGAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGAGTTGTGATCATGTCACTGCACTCTAGCCTGGGCAATAGGTGTGAGACCCTGCCTCAAAAAATAATAAAAATAAAAAAGTCTAATTTCAAAGATTTTGTGCATCTATGGTCATTTTAGAAACCATGAGAAGCAGGAGGGAATAATTTAACTTTTTTTTTTTGAGACAGTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTAACTGTAACCTCTGCTTCCTGGGTTCAAGTGATTCTCGTGCTCAGATTCTTGAGTAGCTAGGATTACAGGCATGTGCCACTACGCCTGGCTAATTTTTGTATTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGATCCGGAACTCCTGGCCTCAAGTGATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCAGCGTGCCCAGCT | CCACCATACCCAGCTAATTTTGTTTTTTATTTTTTCGTAGAGATAGGGTCTCACTATGTTGCGTAGCCTGGTATAGAACTTCTGGGCTCAAGCAGTCCTCCCACATCAGCCTCCCAAAGTGCTGGGGTTACAAGCATGAGCCACCACACCCAGCCTCTTTTCTTTTAACAACTTTTTATGGGATTTGACCTCAGTGTTCTTGTCAGAATTTTATTTTTATGTGAAGTTAGTTTTCTGAACTTTTGGAAGAAGGCCCAGTTAGGAATATAGCTTCTTTTCCTTCACAGTGTACCTTTTGCTTCCTTGTGTATCGTGTTCAAAGATAAGGTAGCTTGCTTCCTGGCTGGCTCCATCCCCTTCCCCTGTTTTTATCAGGGCCTCCTCATCTTTCATCACACGGCTCCCAGGGGCTGGACTCTCCATGCCCTTCATTCCTTATTGCAGCATCCCATGTACTCACCTACTATTGACATTGCAGCATCCCATGTACTCACCTACTATTGATAGGGCAAGGCCCTCCCACTTACAGCTGCTGTTCTCAGAGGAACAGCTGTGGACTATTTGGGGTTCTCTGTTATTGGGTATACCACACGGCCCGTTGCTGCCCCCTGCTTCCTCTCACACAGGTGCTGATATGACGGTCAGGTCTTGTCAACACAGGTGGTATATTCTTACCCACTTGTAATTTGTGGTTTGTGGAGATACCTTGTTGTAAATGTTTGTTGTAATTGTCTTGTGAATGTCTCTGAGATTTGGGGTTTGCTGTCTAATTGCTGTTTTCATGAGGATATTGAGGGAGACTCACAAACTCATCTTCCCAGAATCTCCAGTCAGATTTATGTAATAAGCTAATTGTTAATGGAATCCAGAAATTAAAATAATTCAGGATATGTCTTATCCAAAGGGAATCTCTATGGAAAGAGCATGAGTGTCCAGATCAGGTAGCTGTGGGTTTGCATGCGGGTTCTGTTACTAGCTGTGGCCTTGGCTGCATTCTTCTCTGCTATGCCTCCCTTTCTTCATCATCCCCCTGGGAAATCACCTATGGAAAGGCTTTGCACTGCTGCCCTGCACCTAGTAGGTGCTCATTAAATGCCCCTTTTCACTTTCCCACCCTTGATTCTACAGGTGAATCAAGTAACTTTTTTCTTGGCATCTCCTTTGATTTTTCTCAGGGCAGAAATTCAGGTTTTTTTATTTGCTTCTTTATTAGTTTGAACAGACCGTGGCATTGAAATGCATGCTCTGGCCAGGCCCGGTGGCTCACAACTGTAATCCAAACACTTTGGGAGGCTGAGGTGGGCGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCTAACATGGTGAAAACCGTCTCTACTAAAACTACAAAAATTAGCCAGGCACGCACCTGTAATCCCAGCTACTCGGAAGGCTTAGGCAGGAGAATCACTTGAATCTGGGAGACAGAGGTTGCAATGAGTGGAGATTATGCCAATGCACTCCAGCCTGGGTGACAGAGCAAGACTGTCTTAAAAAAAAAAAAGAAAGAAAGAAACTTATACTCTAAGAATTTTGTTTGTTTGTTTGTTTTTTTGAGACAGGGTCTTGTTCTGTTCCCCAGGCTGGAGTGCAGTGGCGCAACCTTGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCTCAACTCTGCCTCCCAAAGCGCTGAGATTACAGGCATGAGCCACCATGTCCGGTAGAAATTTTATTGTAATGATCTTTAACAACCCATTAATATTAACGTGACTTTAGCACTAATAAGAATTATATTTAAACTTCAAATATATTCTTAGTCTGTCCCCAGTGTCAGCTTAATTTTTCTTCCATTACTTTTTGGGTTAAGTATCTATTTATTTCTCTTTTCTTTTTTTTTTTTTTTTTTTCAGTTTGGTAAATTGTTGGCACATGTTTGCTGTTTCTCTTTATAGCTTGCAAGCCAGGCTGGGATTCCTTCAGGTGTATACAATGTTATTCCCTGTTCTCGAAAGAATGCCAAGGAAGTAGGGGAGGCAATTTGTACGATCCTCTGGTGTCCAAAATTTCCTTTACTGGTTCAACAACTACAGGAAAGGTATGTGACTCAAGTTTCAAAGAAAACAAATGTCTTTCTAATATTTTATCTTGATAGGTTATAAAAATACTATTTCATCCTGATCACCAATTTTGGAAAGATTTCCAGCAGAGTGTTAAAAGCTCTGTCGCAGGCCAAGCACGGCGGCTCATGCCTGTAATTCCAGCACTTTGGGATGCTGAGGTGGGCAGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGGCCAACATGATGAAACCCCCTCACAGAAAATACAACAATTAACCAGGCATGGTGGTGCACACCCGTAATCCCAGGTACCCAGGTGACTGAGGCATGAGAATCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGACTGGGTGACAGAGCAGACTCTGTTTCAAAAAAAAGGTCTGTTGGTTGAATAAAGTAATATCTGACCATCCTCTGGGGATATTTTGGACAGTTCTTTGTGGCACGACATAGGTTCCTGCTTGACAAAACCAAAGAAATTGGGGCAGCGAGGGTCCCATTATTTTTGCATTATTTGTTGTATATGAAGTGGGTGAAAGTTCTCCACTGTATTTTTTTCAATTCTGGAATGCATCTTTCTTTCAATAATCTAGAGTTAGAGATTCCAGAAACACACAATTAATGTTGAAATGGATGTTTTTGAATTGAACAAAAATGTGTTTAGTCTAAAAGTACTTAGAGAAATGGAAAGGTCTTTTTCTTTGAGTTTTTTTTCCCTTAAATGATGAAATGTTCTTTGCTAAAAACTTAATGTGTATGCCTGTAAGTAGATGTTTATTTATCCTTTTAAATGTCCAAAAGAGGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCGGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACGGTGAAACCCCAACTCTACTAAAAATACAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCACCTACTTAGGAGGCTGAGGCAGGAGAATGGTGTGAACCCAGGAGGCGGAGCTTGCAGTGAGGTGAGCCGAGATCACACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAATTAAAAATTAAAAAAAATAAATAATAAAAAAATGTCCAAAAGAGAAAAAATCAAGGTGGAACAAAATTTTTGTTTATGGTGTTTCTCTTCAGATGGTGTGCTTTTTTCTACTAGTTTATATCTAGATATACACATATATGTATCTGTACTCACATTGTTCATGTCCATAAACACATAACAGATAAAATATATAAATCTGCCCAGGCGTGGTGGCTCACACCTGTAATCCTCACACTTTGAGAGGCCAAGGCAGGAGGATCACTTGAGCCCAACCTAGACAACCTGGTGAAACCCTGTCTCTACAAAAAAAAAAATTAGCTGGGCTTAGTGGCACACACATGTAGTCCCAGCTACTTGGGAGGGTGAGGTGAGAGGATCACCTGAGCCTGGGAGGTTGAGGCTGCAGTGAGTTGTGATCATGTCACTGCACTCTAGCCTGGGCAATAGGTGTGAGACCCTGCCTCAAAAAATAATAAAAATAAAAAAGTCTAATTTCAAAGATTTTGTGCATCTATGGTCATTTTAGAAACCATGAGAAGCAGGAGGGAATAATTTAACTTTTTTTTTTTGAGACAGTTGCCCTGTTGCCCAGGCTGGAGTGCAGTGGCGTGATCTTGGCTAACTGTAACCTCTGCTTCCTGGGTTCAAGTGATTCTCGTGCTCAGATTCTTGAGTAGCTAGGATTACAGGCATGTGCCACTACGCCTGGCTAATTTTTGTATTTTCTGTAGAGATGGGGTTTCGCCATGTTGGCCAGGCTGATCCGGAACTCCTGGCCTCAAGTGATCCTCCCTCCTTGGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCAGCGTGCCCAGCTN | pathogenic | 106,056 |
A genetic variant at chromosome 6, position 24520423, affecting gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | GAGAAGCAGAGACTGAGTGGGGAGAGGACACTGTCAGAGGACACAGAGCCAGTGCAGGTGGAGGGACAGACACCAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCTCAAGTGTGGTCCCATCTTTCCTGCAGCCATGACTAGACAAAGACCTACTATCCTTAATAAAGCATTTAAACATCCCTAAGCAGCTTCTTAGGCTATGAAATCTCTTACTGGATATTTAAACTATAATAGCTATAGGTACCAAAAGCCTTATGATTATACATTGAGCTAGCAATTCTACATGTTCATCCTGACAGAATCATCACAGTGTTTTTGTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCCACAGCGTTTTTTTAATGGCAAGGATGGAAACAACCTAAATGTCCAACAGATGGGGCCTGAATAAATAAATTACAGAAGAGCCATGCAGTGGAATACTATGCAAGCATCTAAAGGAATGTTCTAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGTCTGTAATGCCAGCTACTCAAGAGGCTGAGGCTGAAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTAACTGGAGATTGCGCCACTGCACTACAGCCTGGGCAACAGAGCGAGACTCCATCTCAATAATAATAATAAATAAAGTTCTAGAAACATATGTGCTGACACAAGAGGATCTTCACATTAGAGTGTTACATTAAAGGAGCAAGATATAAAGGGTTATGAAAATTTTAAGATAGACGTCCCAAATATGTGATTCATTGGGAAGATAAAGCAGGTTACGAAACGGTATAATTATATAATTATACCATCCTGTTTTTTTTTTTTTAAATGTACATGTACCTGAATCTGCATGGCTACATTCTAAATGGATGTACTTTAAAATGTTATCAGTGTAAGCTGTGGGTTGTGGGATTCTAGGTGATTTTATTTTCTTATCTCTATGATTTTTAAGCCCATCATATAATTGTTTTGAATAGATAAACACTTACTTATATGGTTGAAAAATTAAGACAGTATTAATGTTTACCATGACAAGTCTCACCCTACCCCAACCCTGACTCACTCCCTCTTTCTATAAATAATGACTTTTAGTGTCTTGTCATCCCAGTGTTTATTTTACTAATTTATTTATTTATTTAATTTTTGAAATGGAGTCTCCCTATGCTGCCCAGGCTGGTCTGGAACCCCTGGCCTCAAGTAATCCTCCCACTTCAGCCTCTTAAGGTGCTGGGACTACAGGTGCACACTACCACACCCAGCCTCTTCCCAATGTTTCTTTATCAAATACAAGCAAATGTAAATATATATTCTTATTTCTCCGTTTTCTTATGCAAAGTTATCCCATGTACACCACTGTGCACCTTGCTTTTTTCACCATTTGGTAATTTTTTTAAACAAAGGCTTAACAATCCTGGTAATGGATTTCTGTGCTCACAGCTTTCTCTCCTCTGCTCACAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGGTGAGTCCTGGAGAGTATTTCAGGATGTGTGTTTGCGTGTGCATGTGTGAGTGTGTGTATGTGTGTGTGTGTGATATGTGTGCATGTGAGTGTGTGTGTGTGTGCGTGTGTGTGTGTTACAAAGATCCCACCACCTCTACTGCCTTATATCCCATAAGGAAACTTTTGGGTTCCTTCCATTATTCATTCTTTATTCATTGACTCTTTCAGCAAATATTTAGTATATGCCTTACTTTTTATTACCAGGGTTATACTAGGCTCAGAGGGGCCCCCCCAAAATAAGGTACAGTCCCTGGCTTCAAATAATTTTCTGAACAGCAGATGTCCTTTAGTCAAATTGTTCTCTGTTTTCTTCTTTCCCCTATCCTTTTAATCTGGTTATTTTTATAGTTTTCTTTCATTGATCTTTTTTCTACTGAACGGATATAATCTCCTCAGACACAGAACAGCCTTGAACAATTGGGGTCTCTGAGGCCAAGGGAAAGAAAGTAAGAAAATGTTGAGGAGGGTGGTGGCTGGAATAACTCAAAACCCTGTTGCCTGCTATGACCCAGTGGGGCCTCGCTGTCCCGAGATGGAGGGAGCCTCAGAGGTGCCCTCTACAGGGCACAGGCCCACGCCAGCAGTGTTTTAGAGGAGCATCCAGGCTGTCCTGGGAGACCAGAGGCCTGAGCTCATGTCTTCCTAGGAAATCCTGGAATATTTGATCTGTCAGGGACCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCT | GAGAAGCAGAGACTGAGTGGGGAGAGGACACTGTCAGAGGACACAGAGCCAGTGCAGGTGGAGGGACAGACACCAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCTCAAGTGTGGTCCCATCTTTCCTGCAGCCATGACTAGACAAAGACCTACTATCCTTAATAAAGCATTTAAACATCCCTAAGCAGCTTCTTAGGCTATGAAATCTCTTACTGGATATTTAAACTATAATAGCTATAGGTACCAAAAGCCTTATGATTATACATTGAGCTAGCAATTCTACATGTTCATCCTGACAGAATCATCACAGTGTTTTTGTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCCACAGCGTTTTTTTAATGGCAAGGATGGAAACAACCTAAATGTCCAACAGATGGGGCCTGAATAAATAAATTACAGAAGAGCCATGCAGTGGAATACTATGCAAGCATCTAAAGGAATGTTCTAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGTCTGTAATGCCAGCTACTCAAGAGGCTGAGGCTGAAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTAACTGGAGATTGCGCCACTGCACTACAGCCTGGGCAACAGAGCGAGACTCCATCTCAATAATAATAATAAATAAAGTTCTAGAAACATATGTGCTGACACAAGAGGATCTTCACATTAGAGTGTTACATTAAAGGAGCAAGATATAAAGGGTTATGAAAATTTTAAGATAGACGTCCCAAATATGTGATTCATTGGGAAGATAAAGCAGGTTACGAAACGGTATAATTATATAATTATACCATCCTGTTTTTTTTTTTTTAAATGTACATGTACCTGAATCTGCATGGCTACATTCTAAATGGATGTACTTTAAAATGTTATCAGTGTAAGCTGTGGGTTGTGGGATTCTAGGTGATTTTATTTTCTTATCTCTATGATTTTTAAGCCCATCATATAATTGTTTTGAATAGATAAACACTTACTTATATGGTTGAAAAATTAAGACAGTATTAATGTTTACCATGACAAGTCTCACCCTACCCCAACCCTGACTCACTCCCTCTTTCTATAAATAATGACTTTTAGTGTCTTGTCATCCCAGTGTTTATTTTACTAATTTATTTATTTATTTAATTTTTGAAATGGAGTCTCCCTATGCTGCCCAGGCTGGTCTGGAACCCCTGGCCTCAAGTAATCCTCCCACTTCAGCCTCTTAAGGTGCTGGGACTACAGGTGCACACTACCACACCCAGCCTCTTCCCAATGTTTCTTTATCAAATACAAGCAAATGTAAATATATATTCTTATTTCTCCGTTTTCTTATGCAAAGTTATCCCATGTACACCACTGTGCACCTTGCTTTTTTCACCATTTGGTAATTTTTTTAAACAAAGGCTTAACAATCCTGGTAATGGATTTCTGTGCTCACAGCTTTCTCTCCTCTGCTCACAGATCCTGTTGCACCACGCAGCAAACTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGGTGAGTCCTGGAGAGTATTTCAGGATGTGTGTTTGCGTGTGCATGTGTGAGTGTGTGTATGTGTGTGTGTGTGATATGTGTGCATGTGAGTGTGTGTGTGTGTGCGTGTGTGTGTGTTACAAAGATCCCACCACCTCTACTGCCTTATATCCCATAAGGAAACTTTTGGGTTCCTTCCATTATTCATTCTTTATTCATTGACTCTTTCAGCAAATATTTAGTATATGCCTTACTTTTTATTACCAGGGTTATACTAGGCTCAGAGGGGCCCCCCCAAAATAAGGTACAGTCCCTGGCTTCAAATAATTTTCTGAACAGCAGATGTCCTTTAGTCAAATTGTTCTCTGTTTTCTTCTTTCCCCTATCCTTTTAATCTGGTTATTTTTATAGTTTTCTTTCATTGATCTTTTTTCTACTGAACGGATATAATCTCCTCAGACACAGAACAGCCTTGAACAATTGGGGTCTCTGAGGCCAAGGGAAAGAAAGTAAGAAAATGTTGAGGAGGGTGGTGGCTGGAATAACTCAAAACCCTGTTGCCTGCTATGACCCAGTGGGGCCTCGCTGTCCCGAGATGGAGGGAGCCTCAGAGGTGCCCTCTACAGGGCACAGGCCCACGCCAGCAGTGTTTTAGAGGAGCATCCAGGCTGTCCTGGGAGACCAGAGGCCTGAGCTCATGTCTTCCTAGGAAATCCTGGAATATTTGATCTGTCAGGGACCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCTNN | pathogenic | 106,058 |
Variant at chromosome 6, position 24520496, gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | CAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCTCAAGTGTGGTCCCATCTTTCCTGCAGCCATGACTAGACAAAGACCTACTATCCTTAATAAAGCATTTAAACATCCCTAAGCAGCTTCTTAGGCTATGAAATCTCTTACTGGATATTTAAACTATAATAGCTATAGGTACCAAAAGCCTTATGATTATACATTGAGCTAGCAATTCTACATGTTCATCCTGACAGAATCATCACAGTGTTTTTGTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCCACAGCGTTTTTTTAATGGCAAGGATGGAAACAACCTAAATGTCCAACAGATGGGGCCTGAATAAATAAATTACAGAAGAGCCATGCAGTGGAATACTATGCAAGCATCTAAAGGAATGTTCTAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGTCTGTAATGCCAGCTACTCAAGAGGCTGAGGCTGAAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTAACTGGAGATTGCGCCACTGCACTACAGCCTGGGCAACAGAGCGAGACTCCATCTCAATAATAATAATAAATAAAGTTCTAGAAACATATGTGCTGACACAAGAGGATCTTCACATTAGAGTGTTACATTAAAGGAGCAAGATATAAAGGGTTATGAAAATTTTAAGATAGACGTCCCAAATATGTGATTCATTGGGAAGATAAAGCAGGTTACGAAACGGTATAATTATATAATTATACCATCCTGTTTTTTTTTTTTTAAATGTACATGTACCTGAATCTGCATGGCTACATTCTAAATGGATGTACTTTAAAATGTTATCAGTGTAAGCTGTGGGTTGTGGGATTCTAGGTGATTTTATTTTCTTATCTCTATGATTTTTAAGCCCATCATATAATTGTTTTGAATAGATAAACACTTACTTATATGGTTGAAAAATTAAGACAGTATTAATGTTTACCATGACAAGTCTCACCCTACCCCAACCCTGACTCACTCCCTCTTTCTATAAATAATGACTTTTAGTGTCTTGTCATCCCAGTGTTTATTTTACTAATTTATTTATTTATTTAATTTTTGAAATGGAGTCTCCCTATGCTGCCCAGGCTGGTCTGGAACCCCTGGCCTCAAGTAATCCTCCCACTTCAGCCTCTTAAGGTGCTGGGACTACAGGTGCACACTACCACACCCAGCCTCTTCCCAATGTTTCTTTATCAAATACAAGCAAATGTAAATATATATTCTTATTTCTCCGTTTTCTTATGCAAAGTTATCCCATGTACACCACTGTGCACCTTGCTTTTTTCACCATTTGGTAATTTTTTTAAACAAAGGCTTAACAATCCTGGTAATGGATTTCTGTGCTCACAGCTTTCTCTCCTCTGCTCACAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGGTGAGTCCTGGAGAGTATTTCAGGATGTGTGTTTGCGTGTGCATGTGTGAGTGTGTGTATGTGTGTGTGTGTGATATGTGTGCATGTGAGTGTGTGTGTGTGTGCGTGTGTGTGTGTTACAAAGATCCCACCACCTCTACTGCCTTATATCCCATAAGGAAACTTTTGGGTTCCTTCCATTATTCATTCTTTATTCATTGACTCTTTCAGCAAATATTTAGTATATGCCTTACTTTTTATTACCAGGGTTATACTAGGCTCAGAGGGGCCCCCCCAAAATAAGGTACAGTCCCTGGCTTCAAATAATTTTCTGAACAGCAGATGTCCTTTAGTCAAATTGTTCTCTGTTTTCTTCTTTCCCCTATCCTTTTAATCTGGTTATTTTTATAGTTTTCTTTCATTGATCTTTTTTCTACTGAACGGATATAATCTCCTCAGACACAGAACAGCCTTGAACAATTGGGGTCTCTGAGGCCAAGGGAAAGAAAGTAAGAAAATGTTGAGGAGGGTGGTGGCTGGAATAACTCAAAACCCTGTTGCCTGCTATGACCCAGTGGGGCCTCGCTGTCCCGAGATGGAGGGAGCCTCAGAGGTGCCCTCTACAGGGCACAGGCCCACGCCAGCAGTGTTTTAGAGGAGCATCCAGGCTGTCCTGGGAGACCAGAGGCCTGAGCTCATGTCTTCCTAGGAAATCCTGGAATATTTGATCTGTCAGGGACCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCTTTTCTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGTGCTTATTGCCAACTAATCACTGATGCATAGCAG | CAGAGACAGGACCTGTGCTCAAGGCCAGGTGGAGGCAAAATGGAGTGACCCAACAGTGAGAATCATTTTTGCACTGAAGCAAATCCAGGAAAAGTCAATGACGTTTCTTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCTCAAGTGTGGTCCCATCTTTCCTGCAGCCATGACTAGACAAAGACCTACTATCCTTAATAAAGCATTTAAACATCCCTAAGCAGCTTCTTAGGCTATGAAATCTCTTACTGGATATTTAAACTATAATAGCTATAGGTACCAAAAGCCTTATGATTATACATTGAGCTAGCAATTCTACATGTTCATCCTGACAGAATCATCACAGTGTTTTTGTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCCACAGCGTTTTTTTAATGGCAAGGATGGAAACAACCTAAATGTCCAACAGATGGGGCCTGAATAAATAAATTACAGAAGAGCCATGCAGTGGAATACTATGCAAGCATCTAAAGGAATGTTCTAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGTCTGTAATGCCAGCTACTCAAGAGGCTGAGGCTGAAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTAACTGGAGATTGCGCCACTGCACTACAGCCTGGGCAACAGAGCGAGACTCCATCTCAATAATAATAATAAATAAAGTTCTAGAAACATATGTGCTGACACAAGAGGATCTTCACATTAGAGTGTTACATTAAAGGAGCAAGATATAAAGGGTTATGAAAATTTTAAGATAGACGTCCCAAATATGTGATTCATTGGGAAGATAAAGCAGGTTACGAAACGGTATAATTATATAATTATACCATCCTGTTTTTTTTTTTTTAAATGTACATGTACCTGAATCTGCATGGCTACATTCTAAATGGATGTACTTTAAAATGTTATCAGTGTAAGCTGTGGGTTGTGGGATTCTAGGTGATTTTATTTTCTTATCTCTATGATTTTTAAGCCCATCATATAATTGTTTTGAATAGATAAACACTTACTTATATGGTTGAAAAATTAAGACAGTATTAATGTTTACCATGACAAGTCTCACCCTACCCCAACCCTGACTCACTCCCTCTTTCTATAAATAATGACTTTTAGTGTCTTGTCATCCCAGTGTTTATTTTACTAATTTATTTATTTATTTAATTTTTGAAATGGAGTCTCCCTATGCTGCCCAGGCTGGTCTGGAACCCCTGGCCTCAAGTAATCCTCCCACTTCAGCCTCTTAAGGTGCTGGGACTACAGGTGCACACTACCACACCCAGCCTCTTCCCAATGTTTCTTTATCAAATACAAGCAAATGTAAATATATATTCTTATTTCTCCGTTTTCTTATGCAAAGTTATCCCATGTACACCACTGTGCACCTTGCTTTTTTCACCATTTGGTAATTTTTTTAAACAAAGGCTTAACAATCCTGGTAATGGATTTCTGTGCTCACAGCTTTCTCTCCTCTGCTCACAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCACAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGGTGAGTCCTGGAGAGTATTTCAGGATGTGTGTTTGCGTGTGCATGTGTGAGTGTGTGTATGTGTGTGTGTGTGATATGTGTGCATGTGAGTGTGTGTGTGTGTGCGTGTGTGTGTGTTACAAAGATCCCACCACCTCTACTGCCTTATATCCCATAAGGAAACTTTTGGGTTCCTTCCATTATTCATTCTTTATTCATTGACTCTTTCAGCAAATATTTAGTATATGCCTTACTTTTTATTACCAGGGTTATACTAGGCTCAGAGGGGCCCCCCCAAAATAAGGTACAGTCCCTGGCTTCAAATAATTTTCTGAACAGCAGATGTCCTTTAGTCAAATTGTTCTCTGTTTTCTTCTTTCCCCTATCCTTTTAATCTGGTTATTTTTATAGTTTTCTTTCATTGATCTTTTTTCTACTGAACGGATATAATCTCCTCAGACACAGAACAGCCTTGAACAATTGGGGTCTCTGAGGCCAAGGGAAAGAAAGTAAGAAAATGTTGAGGAGGGTGGTGGCTGGAATAACTCAAAACCCTGTTGCCTGCTATGACCCAGTGGGGCCTCGCTGTCCCGAGATGGAGGGAGCCTCAGAGGTGCCCTCTACAGGGCACAGGCCCACGCCAGCAGTGTTTTAGAGGAGCATCCAGGCTGTCCTGGGAGACCAGAGGCCTGAGCTCATGTCTTCCTAGGAAATCCTGGAATATTTGATCTGTCAGGGACCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCTTTTCTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGTGCTTATTGCCAACTAATCACTGATGCATAGC | pathogenic | 106,060 |
Is the chromosome 6, position 24520603 variant in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | TTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCTCAAGTGTGGTCCCATCTTTCCTGCAGCCATGACTAGACAAAGACCTACTATCCTTAATAAAGCATTTAAACATCCCTAAGCAGCTTCTTAGGCTATGAAATCTCTTACTGGATATTTAAACTATAATAGCTATAGGTACCAAAAGCCTTATGATTATACATTGAGCTAGCAATTCTACATGTTCATCCTGACAGAATCATCACAGTGTTTTTGTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCCACAGCGTTTTTTTAATGGCAAGGATGGAAACAACCTAAATGTCCAACAGATGGGGCCTGAATAAATAAATTACAGAAGAGCCATGCAGTGGAATACTATGCAAGCATCTAAAGGAATGTTCTAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGTCTGTAATGCCAGCTACTCAAGAGGCTGAGGCTGAAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTAACTGGAGATTGCGCCACTGCACTACAGCCTGGGCAACAGAGCGAGACTCCATCTCAATAATAATAATAAATAAAGTTCTAGAAACATATGTGCTGACACAAGAGGATCTTCACATTAGAGTGTTACATTAAAGGAGCAAGATATAAAGGGTTATGAAAATTTTAAGATAGACGTCCCAAATATGTGATTCATTGGGAAGATAAAGCAGGTTACGAAACGGTATAATTATATAATTATACCATCCTGTTTTTTTTTTTTTAAATGTACATGTACCTGAATCTGCATGGCTACATTCTAAATGGATGTACTTTAAAATGTTATCAGTGTAAGCTGTGGGTTGTGGGATTCTAGGTGATTTTATTTTCTTATCTCTATGATTTTTAAGCCCATCATATAATTGTTTTGAATAGATAAACACTTACTTATATGGTTGAAAAATTAAGACAGTATTAATGTTTACCATGACAAGTCTCACCCTACCCCAACCCTGACTCACTCCCTCTTTCTATAAATAATGACTTTTAGTGTCTTGTCATCCCAGTGTTTATTTTACTAATTTATTTATTTATTTAATTTTTGAAATGGAGTCTCCCTATGCTGCCCAGGCTGGTCTGGAACCCCTGGCCTCAAGTAATCCTCCCACTTCAGCCTCTTAAGGTGCTGGGACTACAGGTGCACACTACCACACCCAGCCTCTTCCCAATGTTTCTTTATCAAATACAAGCAAATGTAAATATATATTCTTATTTCTCCGTTTTCTTATGCAAAGTTATCCCATGTACACCACTGTGCACCTTGCTTTTTTCACCATTTGGTAATTTTTTTAAACAAAGGCTTAACAATCCTGGTAATGGATTTCTGTGCTCACAGCTTTCTCTCCTCTGCTCACAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGGTGAGTCCTGGAGAGTATTTCAGGATGTGTGTTTGCGTGTGCATGTGTGAGTGTGTGTATGTGTGTGTGTGTGATATGTGTGCATGTGAGTGTGTGTGTGTGTGCGTGTGTGTGTGTTACAAAGATCCCACCACCTCTACTGCCTTATATCCCATAAGGAAACTTTTGGGTTCCTTCCATTATTCATTCTTTATTCATTGACTCTTTCAGCAAATATTTAGTATATGCCTTACTTTTTATTACCAGGGTTATACTAGGCTCAGAGGGGCCCCCCCAAAATAAGGTACAGTCCCTGGCTTCAAATAATTTTCTGAACAGCAGATGTCCTTTAGTCAAATTGTTCTCTGTTTTCTTCTTTCCCCTATCCTTTTAATCTGGTTATTTTTATAGTTTTCTTTCATTGATCTTTTTTCTACTGAACGGATATAATCTCCTCAGACACAGAACAGCCTTGAACAATTGGGGTCTCTGAGGCCAAGGGAAAGAAAGTAAGAAAATGTTGAGGAGGGTGGTGGCTGGAATAACTCAAAACCCTGTTGCCTGCTATGACCCAGTGGGGCCTCGCTGTCCCGAGATGGAGGGAGCCTCAGAGGTGCCCTCTACAGGGCACAGGCCCACGCCAGCAGTGTTTTAGAGGAGCATCCAGGCTGTCCTGGGAGACCAGAGGCCTGAGCTCATGTCTTCCTAGGAAATCCTGGAATATTTGATCTGTCAGGGACCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCTTTTCTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGTGCTTATTGCCAACTAATCACTGATGCATAGCAGCTGTGTAGCATAGCAGCTGTGGAGGGAACTGGAGGGGAACATGCACTGACTCAGTGCTTTTATCTTTGGGGCCAAGCCCACGTGAGGAGGAAAATGGCAGTTTGAGC | TTAAAAATTTTTAAATAAAAACATAAAAAAAGTTTAAATAGTTATGTTGCGTCCGATAAAGAAATATGTTTAGTCTTAAAACTTGAACTACTTTGTTGAACAGTAATGTTTCAGAGAAGATTGTTACTACCATTTGATTGCTGGAATATTAACATACAGACACATACACAGTACCCACACAGGCCTAGCTTTCCAGCCATTCTGTGTTTTTACCAAGAACCGTGTCACAAAACTCATGACCTCAGAATGTACAACACTTGGGGGGCAATCCTAGAGCCACCTTGGGCTTGCGAACACCGTCTGTTTCACTCGAACTATCTCAAGTGTGGTCCCATCTTTCCTGCAGCCATGACTAGACAAAGACCTACTATCCTTAATAAAGCATTTAAACATCCCTAAGCAGCTTCTTAGGCTATGAAATCTCTTACTGGATATTTAAACTATAATAGCTATAGGTACCAAAAGCCTTATGATTATACATTGAGCTAGCAATTCTACATGTTCATCCTGACAGAATCATCACAGTGTTTTTGTCTTTTGTTTTGTTTTGTTTTTGAGATGGAGTCTCGCTCTGTAGCCCAGGCTGGAGTGCAGTGGCGCGATCCACAGCGTTTTTTTAATGGCAAGGATGGAAACAACCTAAATGTCCAACAGATGGGGCCTGAATAAATAAATTACAGAAGAGCCATGCAGTGGAATACTATGCAAGCATCTAAAGGAATGTTCTAGGCCGGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGACAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGACGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGTCTGTAATGCCAGCTACTCAAGAGGCTGAGGCTGAAGAATTGCTTGAACCCAGAAGGTGGAGGTTGCAGTAACTGGAGATTGCGCCACTGCACTACAGCCTGGGCAACAGAGCGAGACTCCATCTCAATAATAATAATAAATAAAGTTCTAGAAACATATGTGCTGACACAAGAGGATCTTCACATTAGAGTGTTACATTAAAGGAGCAAGATATAAAGGGTTATGAAAATTTTAAGATAGACGTCCCAAATATGTGATTCATTGGGAAGATAAAGCAGGTTACGAAACGGTATAATTATATAATTATACCATCCTGTTTTTTTTTTTTTAAATGTACATGTACCTGAATCTGCATGGCTACATTCTAAATGGATGTACTTTAAAATGTTATCAGTGTAAGCTGTGGGTTGTGGGATTCTAGGTGATTTTATTTTCTTATCTCTATGATTTTTAAGCCCATCATATAATTGTTTTGAATAGATAAACACTTACTTATATGGTTGAAAAATTAAGACAGTATTAATGTTTACCATGACAAGTCTCACCCTACCCCAACCCTGACTCACTCCCTCTTTCTATAAATAATGACTTTTAGTGTCTTGTCATCCCAGTGTTTATTTTACTAATTTATTTATTTATTTAATTTTTGAAATGGAGTCTCCCTATGCTGCCCAGGCTGGTCTGGAACCCCTGGCCTCAAGTAATCCTCCCACTTCAGCCTCTTAAGGTGCTGGGACTACAGGTGCACACTACCACACCCAGCCTCTTCCCAATGTTTCTTTATCAAATACAAGCAAATGTAAATATATATTCTTATTTCTCCGTTTTCTTATGCAAAGTTATCCCATGTACACCACTGTGCACCTTGCTTTTTTCACCATTTGGTAATTTTTTTAAACAAAGGCTTAACAATCCTGGTAATGGATTTCTGTGCTCACAGCTTTCTCTCCTCTGCTCACAGATCCTGTTGCACCACGCAGCAAACTCTGTGAAAAGGGTCTCTATGGAGCTGGGCGGCCTTGCTCCATTTATAGTATTTGACAGTGCCAACGTGGACCAGGCTGTAGCAGGGGCCATGGCATCTAAATTTAGGAACACTGGACAGGTGAGTCCTGGAGAGTATTTCAGGATGTGTGTTTGCGTGTGCATGTGTGAGTGTGTGTATGTGTGTGTGTGATATGTGTGCATGTGAGTGTGTGTGTGTGTGCGTGTGTGTGTGTTACAAAGATCCCACCACCTCTACTGCCTTATATCCCATAAGGAAACTTTTGGGTTCCTTCCATTATTCATTCTTTATTCATTGACTCTTTCAGCAAATATTTAGTATATGCCTTACTTTTTATTACCAGGGTTATACTAGGCTCAGAGGGGCCCCCCCAAAATAAGGTACAGTCCCTGGCTTCAAATAATTTTCTGAACAGCAGATGTCCTTTAGTCAAATTGTTCTCTGTTTTCTTCTTTCCCCTATCCTTTTAATCTGGTTATTTTTATAGTTTTCTTTCATTGATCTTTTTTCTACTGAACGGATATAATCTCCTCAGACACAGAACAGCCTTGAACAATTGGGGTCTCTGAGGCCAAGGGAAAGAAAGTAAGAAAATGTTGAGGAGGGTGGTGGCTGGAATAACTCAAAACCCTGTTGCCTGCTATGACCCAGTGGGGCCTCGCTGTCCCGAGATGGAGGGAGCCTCAGAGGTGCCCTCTACAGGGCACAGGCCCACGCCAGCAGTGTTTTAGAGGAGCATCCAGGCTGTCCTGGGAGACCAGAGGCCTGAGCTCATGTCTTCCTAGGAAATCCTGGAATATTTGATCTGTCAGGGACCTTCACAGTTATCAGCTCTACAAACGTTGCATTTTAGAGATGAGGAAATGAAACTCTAGAAAGAAAAAGTGACTTAGAGATCAGACGTCTTTGGGCCACAGTGTCAAATCTGCTGAGGAGCTGGGACTCTGAGCCAAGGCTCCTGTCTTCCAGTTCTATCCAAGCTGCTGCCAGGGTCCTGCCTTCTTAAATATTCTTAAGCATTCATCTTAAAAGTACCATCAATATGTAATTTTAAATGCATTCTAGAAACAGAGTAAATATCCCTGAAAGGTTATATTGTGAAAAAACTGAAATGTGTGATATTCTCTATCAAATAATTTTCATCCTTGCCTTGGCCTTTGGTAATTAAGTTTTTCCCTTCCACATAACCTAAATAAGCTTGGTTTTGTCTGAAATAAGTATATTTTCCTTCATAAATACAAAATGTCAATATATGTTACCATCAATTACACTGTAAGGCTACAACTTGGGGACAGGTATGGTGGCTCAGAACTGTAATCCCAGCATTTTGGGAGGCCAAAGCAGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAACAGAGTGAGACTCTGTCTCTACAATTTTTTTTTTTTTTTTTTTTTTTTTGTGTGACAGAGTCTCACTCTGTTGCCCAGGCTGAAGTGTAGTGGCATGATGTCAGCTCACTGCAACCTCCACCTCCCGGATTCAAGAGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGCTAATTTTTCTATTTTTAGTAGAGATGGGTTTCACTATGTTGGCCAGGCTAGTCTCGAACTCCTGACCTTAGGTGATCCACCCACCTCAGCCTCCCAAAGTGCTGGGGTTACAGGCATGAGCCACTGCGCCCAGCCAAAAAAAATTAAAAATTAGCTGGGCATGGTGGCAAGTGCCTATAGTCCCACCTACTTGGGAGGCTGAGGTGGAAGAATCACTTGAGCCCTGGAGGTCAAGGCTGCAGTGAACTCATCACTACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTGTCAGCAAAACAAAAGACTATAAGTTGGTGTTGGACCACATTCCTCTTAGCCTCTGCTGTTGCTGCAGCATCACAGTCTCCTAGGAGAATTGCACTCTTTCCCCACCCCCCAGGGAAACAAAATAAAAGCCATTTGAAAAAAACATGGATTGGGTGGCTTTTTTTTCTTTTCTTTCGTGTGTGTGTGTGTGTGTGTGTGTGTACAGGTGCTTATTGCCAACTAATCACTGATGCATAGCAGCTGTGTAGCATAGCAGCTGTGGAGGGAACTGGAGGGGAACATGCACTGACTCAGTGCTTTTATCTTTGGGGCCAAGCCCACGTGAGGAGGAAAATGGCAGTTTGAGCNN | benign | 106,061 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 6, position 24527903, gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1). What disease(s) is it linked to if pathogenic? | benign | TCTGCACAATTTTCTGGGTCATTCCCACCATCCCTTCTCACCACGACCACCACCAAGACACATGAGACAGCAGAGGCATTTGTTCTGGGCAGGACAGCTTTTCTGAAGAAATATAGTAGGTATCTAGGCAGACTACAGCTTCAAGAGCGAGGCTAGGTACCTCAGGGTAGGGCTCTCTCGACTTTGCCTTTTGGGGAAGGGAGCTGCCCTTATGTGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCTAGGCTTAAAGTATAATAATAATAAAAAAAGAAGTATGTTCTAGGAAATGAAGCAATGAAAACAAAGAGTCTGTAGAAATTAGACATATGACTGTCACAAGATTCGGTACCTGAAGTAGATGATAAAATTTCGGAGATCTTATGGAGTTTAAAGCAAACTATAGAGAGGCAAAAAATATAATAGAAATGCAAAAAAAAATCAGAACTAATCTGAACTCCTGTTAATACCCGTCCAGTAGTAGGAGTTCTGGAGTGAAATAATTGGGAAAATGGAGGAAGTGACATTACCAAGTAAATAATAGATGGAAACTTCTCAGAGTTAGGGGAAAATAATTATTCTGCAGATTGAAAGATTTCACTGCTTACCAAGTAGGATGAATGAAAAGGGAATATATATATATCTTCTCTATATATATATATTCTATATATATATATCTTCTATATATATATTCTATATATATATCTACTATATATATATTCTATATATATCTACTATATATTCTATATATATATCTAATATATATATATGTGTGTGTGTATATATATATATATATATATATATATATATATAGTATTGCTAAAATTTTAGAATATCAGAGCATAGAAGATCCTAGGAGATTTCAGAGAGGAAAAAGCTATCAAGAAGAAAAAGGGTGAGAACCATTTTTGGCTCAAACTTCCTCAGCAACACCGGAAGTGGAGAAGTGCACTCAAAGTTCTGAAAGTTATTTTGTATCAGAATTCTGTACTCAAGCAAATTATCAATCAGGTGGAGTACAAAACACCAGAAACTTGGTGTATGAAAATTCAGAAACTAGACCACATCCAGTGCATCTTTTTTAAAACAACTACTTGGCCAGGCCTCGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGATGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCCGGGCGCGGTGGTGGGTGCCTATAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAAATAAATAAATAACAACTACTTGAGATTATGTGTGTCAGAAAGCAACAAAAACTCAGTTCAGGAAATAGGACAACATGGGATCCAAGAAGCTAGAAATAACCGCAGAATGCAATGAAAGCAAATCCAAGCAAACGGCTGAGCCGCAGGCCTAGAAAGAAGCGAATATATATTAGACCATTCAACAAATAGGAAGATCAAACAGCTAGAAGATATCAAAGACCAAGGAGGAAGGTGGCACTCTTGCTTCTGAATCTCTGCAAATGTGGTTCCTTCTACAAAAGGAAACCAGCATGCTTTATTGTTAACCTACTTTTTTTGAAAAAGAAAAAAAAATGGAACTAGTTATAGTTTTCTGCAGTTTAAACATTCTAAAAGATTGTATCATGTGGAAAGCTTTTTTTCTTCCTCATTACACAGGTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAATGTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGCCTCTGGCACCAGTTATCAAGTAAGATCCTCCAGCCAGCGGGGAGATGGGAGGAAGAATAGAAGAGAACATAGGAAACCCTGAAAGAGATTCCTGGGCTGCTTTGAGGTCTGGCCAGGAGGCAGACAGTTGTGTTGAGTCCATTGAAGAGCAGAGTGCAATTTATGGGTTTTTAAAAAAATCATAACTTATTTGGACCATAAAATTTATCAAATTCTATTTTTTTTTTCTTTTTGAGATGGAGTTTCACTGTGTTGCCCAGGCTGCAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTAGGACTACAGGCACCCACCACCATACCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAGTCCTGCGTTGGCCTTCCAAAGTGCTGGGATTATGGGAGTGAACCACCATGCCTGGCCTCAAATTCTTTAATTTACTTTTTCTTACTTTCTGCTGAACTCTTTTTTTTTTTTTTCTTGAGATGGAGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCGATTCTCGTGCTTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCGCACCATGCCTGGCTAATTTTTTGTAATCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGAGATCACAGGCATGAACCACCGTGCTCAGACCTGAACTCATTTTCCTTCTTAATGTATTATACCTCAAAGGATTCTTTCATTGGCCTCCATAGGACATGAACTTTCTGTGTCGTTTTGTGGTCTTTTATCTCCCATTCACAAGTAGATAATAATTTACCTGGATAAAATTTTAGGTTCAACCCTTTGGAGATATTACTCCTTTATCCACTTTTTTTTTCTTTTTTTTGTTTTTTGTTTTGATATGGAGTCTAACTCCGTCATCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTATACTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTTACCTCAAGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCGGCCTCTTTATCTACTTTTATCCAGGGTTATTGCCAAGAAATCTGATTCTTGCTTCTTTGAAAGAAATCTATTTTTTCTCTTTGGAAACATTTAGAATTTCTCTTGATCTTTGATGTTCTTAAATTTTACTATCTGGTATGGCACACAGTGAGGTTTTTCAGTTGAGGTCCTAATATCTTTAATACGGTTTTTTTGTTTTGGTTTGGGTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGTTGCGATCTCAGCTCAGTTTAACCTCTGCCTCTTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGCCCTGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCATCCCAAAGGGCTGGGATTACAGG | TCTGCACAATTTTCTGGGTCATTCCCACCATCCCTTCTCACCACGACCACCACCAAGACACATGAGACAGCAGAGGCATTTGTTCTGGGCAGGACAGCTTTTCTGAAGAAATATAGTAGGTATCTAGGCAGACTACAGCTTCAAGAGCGAGGCTAGGTACCTCAGGGTAGGGCTCTCTCGACTTTGCCTTTTGGGGAAGGGAGCTGCCCTTATGTGAAGCCTGCAAGTTAGAATAAACCCAAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCTAGGCTTAAAGTATAATAATAATAAAAAAAGAAGTATGTTCTAGGAAATGAAGCAATGAAAACAAAGAGTCTGTAGAAATTAGACATATGACTGTCACAAGATTCGGTACCTGAAGTAGATGATAAAATTTCGGAGATCTTATGGAGTTTAAAGCAAACTATAGAGAGGCAAAAAATATAATAGAAATGCAAAAAAAAATCAGAACTAATCTGAACTCCTGTTAATACCCGTCCAGTAGTAGGAGTTCTGGAGTGAAATAATTGGGAAAATGGAGGAAGTGACATTACCAAGTAAATAATAGATGGAAACTTCTCAGAGTTAGGGGAAAATAATTATTCTGCAGATTGAAAGATTTCACTGCTTACCAAGTAGGATGAATGAAAAGGGAATATATATATATCTTCTCTATATATATATATTCTATATATATATATCTTCTATATATATATTCTATATATATATCTACTATATATATATTCTATATATATCTACTATATATTCTATATATATATCTAATATATATATATGTGTGTGTGTATATATATATATATATATATATATATATATATAGTATTGCTAAAATTTTAGAATATCAGAGCATAGAAGATCCTAGGAGATTTCAGAGAGGAAAAAGCTATCAAGAAGAAAAAGGGTGAGAACCATTTTTGGCTCAAACTTCCTCAGCAACACCGGAAGTGGAGAAGTGCACTCAAAGTTCTGAAAGTTATTTTGTATCAGAATTCTGTACTCAAGCAAATTATCAATCAGGTGGAGTACAAAACACCAGAAACTTGGTGTATGAAAATTCAGAAACTAGACCACATCCAGTGCATCTTTTTTAAAACAACTACTTGGCCAGGCCTCGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGATGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCCGGGCGCGGTGGTGGGTGCCTATAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAAATAAATAAATAACAACTACTTGAGATTATGTGTGTCAGAAAGCAACAAAAACTCAGTTCAGGAAATAGGACAACATGGGATCCAAGAAGCTAGAAATAACCGCAGAATGCAATGAAAGCAAATCCAAGCAAACGGCTGAGCCGCAGGCCTAGAAAGAAGCGAATATATATTAGACCATTCAACAAATAGGAAGATCAAACAGCTAGAAGATATCAAAGACCAAGGAGGAAGGTGGCACTCTTGCTTCTGAATCTCTGCAAATGTGGTTCCTTCTACAAAAGGAAACCAGCATGCTTTATTGTTAACCTACTTTTTTTGAAAAAGAAAAAAAATGGAACTAGTTATAGTTTTCTGCAGTTTAAACATTCTAAAAGATTGTATCATGTGGAAAGCTTTTTTTCTTCCTCATTACACAGGTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAATGTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGCCTCTGGCACCAGTTATCAAGTAAGATCCTCCAGCCAGCGGGGAGATGGGAGGAAGAATAGAAGAGAACATAGGAAACCCTGAAAGAGATTCCTGGGCTGCTTTGAGGTCTGGCCAGGAGGCAGACAGTTGTGTTGAGTCCATTGAAGAGCAGAGTGCAATTTATGGGTTTTTAAAAAAATCATAACTTATTTGGACCATAAAATTTATCAAATTCTATTTTTTTTTTCTTTTTGAGATGGAGTTTCACTGTGTTGCCCAGGCTGCAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTAGGACTACAGGCACCCACCACCATACCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAGTCCTGCGTTGGCCTTCCAAAGTGCTGGGATTATGGGAGTGAACCACCATGCCTGGCCTCAAATTCTTTAATTTACTTTTTCTTACTTTCTGCTGAACTCTTTTTTTTTTTTTTCTTGAGATGGAGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCGATTCTCGTGCTTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCGCACCATGCCTGGCTAATTTTTTGTAATCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGAGATCACAGGCATGAACCACCGTGCTCAGACCTGAACTCATTTTCCTTCTTAATGTATTATACCTCAAAGGATTCTTTCATTGGCCTCCATAGGACATGAACTTTCTGTGTCGTTTTGTGGTCTTTTATCTCCCATTCACAAGTAGATAATAATTTACCTGGATAAAATTTTAGGTTCAACCCTTTGGAGATATTACTCCTTTATCCACTTTTTTTTTCTTTTTTTTGTTTTTTGTTTTGATATGGAGTCTAACTCCGTCATCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTATACTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTTACCTCAAGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCGGCCTCTTTATCTACTTTTATCCAGGGTTATTGCCAAGAAATCTGATTCTTGCTTCTTTGAAAGAAATCTATTTTTTCTCTTTGGAAACATTTAGAATTTCTCTTGATCTTTGATGTTCTTAAATTTTACTATCTGGTATGGCACACAGTGAGGTTTTTCAGTTGAGGTCCTAATATCTTTAATACGGTTTTTTTGTTTTGGTTTGGGTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGTTGCGATCTCAGCTCAGTTTAACCTCTGCCTCTTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGCCCTGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCATCCCAAAGGGCTGGGATTACAGGN | benign | 106,066 |
Regarding the variant found on chromosome 6 at position 24528143 in gene ALDH5A1 (aldehyde dehydrogenase 5 family member A1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | AAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCTAGGCTTAAAGTATAATAATAATAAAAAAAGAAGTATGTTCTAGGAAATGAAGCAATGAAAACAAAGAGTCTGTAGAAATTAGACATATGACTGTCACAAGATTCGGTACCTGAAGTAGATGATAAAATTTCGGAGATCTTATGGAGTTTAAAGCAAACTATAGAGAGGCAAAAAATATAATAGAAATGCAAAAAAAAATCAGAACTAATCTGAACTCCTGTTAATACCCGTCCAGTAGTAGGAGTTCTGGAGTGAAATAATTGGGAAAATGGAGGAAGTGACATTACCAAGTAAATAATAGATGGAAACTTCTCAGAGTTAGGGGAAAATAATTATTCTGCAGATTGAAAGATTTCACTGCTTACCAAGTAGGATGAATGAAAAGGGAATATATATATATCTTCTCTATATATATATATTCTATATATATATATCTTCTATATATATATTCTATATATATATCTACTATATATATATTCTATATATATCTACTATATATTCTATATATATATCTAATATATATATATGTGTGTGTGTATATATATATATATATATATATATATATATATAGTATTGCTAAAATTTTAGAATATCAGAGCATAGAAGATCCTAGGAGATTTCAGAGAGGAAAAAGCTATCAAGAAGAAAAAGGGTGAGAACCATTTTTGGCTCAAACTTCCTCAGCAACACCGGAAGTGGAGAAGTGCACTCAAAGTTCTGAAAGTTATTTTGTATCAGAATTCTGTACTCAAGCAAATTATCAATCAGGTGGAGTACAAAACACCAGAAACTTGGTGTATGAAAATTCAGAAACTAGACCACATCCAGTGCATCTTTTTTAAAACAACTACTTGGCCAGGCCTCGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGATGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCCGGGCGCGGTGGTGGGTGCCTATAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAAATAAATAAATAACAACTACTTGAGATTATGTGTGTCAGAAAGCAACAAAAACTCAGTTCAGGAAATAGGACAACATGGGATCCAAGAAGCTAGAAATAACCGCAGAATGCAATGAAAGCAAATCCAAGCAAACGGCTGAGCCGCAGGCCTAGAAAGAAGCGAATATATATTAGACCATTCAACAAATAGGAAGATCAAACAGCTAGAAGATATCAAAGACCAAGGAGGAAGGTGGCACTCTTGCTTCTGAATCTCTGCAAATGTGGTTCCTTCTACAAAAGGAAACCAGCATGCTTTATTGTTAACCTACTTTTTTTGAAAAAGAAAAAAAAATGGAACTAGTTATAGTTTTCTGCAGTTTAAACATTCTAAAAGATTGTATCATGTGGAAAGCTTTTTTTCTTCCTCATTACACAGGTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAATGTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGCCTCTGGCACCAGTTATCAAGTAAGATCCTCCAGCCAGCGGGGAGATGGGAGGAAGAATAGAAGAGAACATAGGAAACCCTGAAAGAGATTCCTGGGCTGCTTTGAGGTCTGGCCAGGAGGCAGACAGTTGTGTTGAGTCCATTGAAGAGCAGAGTGCAATTTATGGGTTTTTAAAAAAATCATAACTTATTTGGACCATAAAATTTATCAAATTCTATTTTTTTTTTCTTTTTGAGATGGAGTTTCACTGTGTTGCCCAGGCTGCAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTAGGACTACAGGCACCCACCACCATACCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAGTCCTGCGTTGGCCTTCCAAAGTGCTGGGATTATGGGAGTGAACCACCATGCCTGGCCTCAAATTCTTTAATTTACTTTTTCTTACTTTCTGCTGAACTCTTTTTTTTTTTTTTCTTGAGATGGAGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCGATTCTCGTGCTTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCGCACCATGCCTGGCTAATTTTTTGTAATCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGAGATCACAGGCATGAACCACCGTGCTCAGACCTGAACTCATTTTCCTTCTTAATGTATTATACCTCAAAGGATTCTTTCATTGGCCTCCATAGGACATGAACTTTCTGTGTCGTTTTGTGGTCTTTTATCTCCCATTCACAAGTAGATAATAATTTACCTGGATAAAATTTTAGGTTCAACCCTTTGGAGATATTACTCCTTTATCCACTTTTTTTTTCTTTTTTTTGTTTTTTGTTTTGATATGGAGTCTAACTCCGTCATCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTATACTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTTACCTCAAGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCGGCCTCTTTATCTACTTTTATCCAGGGTTATTGCCAAGAAATCTGATTCTTGCTTCTTTGAAAGAAATCTATTTTTTCTCTTTGGAAACATTTAGAATTTCTCTTGATCTTTGATGTTCTTAAATTTTACTATCTGGTATGGCACACAGTGAGGTTTTTCAGTTGAGGTCCTAATATCTTTAATACGGTTTTTTTGTTTTGGTTTGGGTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGTTGCGATCTCAGCTCAGTTTAACCTCTGCCTCTTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGCCCTGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCATCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCTCATTAATATCTAACAGGTTTGTTTAGTCCTGGAAAATTTTTTGTCATTATTTTTCCAGATATTCTTCTTCCTTTCATTTATGCTTTTCTAGCCTTCCAAGTAGTCTATTATTGTGATACTTCTACTTCTGTGCCCTAGTTCTCTTGTCTCTTCATTCCATCTCTTCATTCCTGATTCATTCCTGATGCCTTCTGCGAGTCCCTCCCCTCATCTGCCAGC | AAGCTTAAAACAGCAAAGACCACTCATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCTAGGCTTAAAGTATAATAATAATAAAAAAAGAAGTATGTTCTAGGAAATGAAGCAATGAAAACAAAGAGTCTGTAGAAATTAGACATATGACTGTCACAAGATTCGGTACCTGAAGTAGATGATAAAATTTCGGAGATCTTATGGAGTTTAAAGCAAACTATAGAGAGGCAAAAAATATAATAGAAATGCAAAAAAAAATCAGAACTAATCTGAACTCCTGTTAATACCCGTCCAGTAGTAGGAGTTCTGGAGTGAAATAATTGGGAAAATGGAGGAAGTGACATTACCAAGTAAATAATAGATGGAAACTTCTCAGAGTTAGGGGAAAATAATTATTCTGCAGATTGAAAGATTTCACTGCTTACCAAGTAGGATGAATGAAAAGGGAATATATATATATCTTCTCTATATATATATATTCTATATATATATATCTTCTATATATATATTCTATATATATATCTACTATATATATATTCTATATATATCTACTATATATTCTATATATATATCTAATATATATATATGTGTGTGTGTATATATATATATATATATATATATATATATATAGTATTGCTAAAATTTTAGAATATCAGAGCATAGAAGATCCTAGGAGATTTCAGAGAGGAAAAAGCTATCAAGAAGAAAAAGGGTGAGAACCATTTTTGGCTCAAACTTCCTCAGCAACACCGGAAGTGGAGAAGTGCACTCAAAGTTCTGAAAGTTATTTTGTATCAGAATTCTGTACTCAAGCAAATTATCAATCAGGTGGAGTACAAAACACCAGAAACTTGGTGTATGAAAATTCAGAAACTAGACCACATCCAGTGCATCTTTTTTAAAACAACTACTTGGCCAGGCCTCGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGATGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCCGGGCGCGGTGGTGGGTGCCTATAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAAATAAATAAATAACAACTACTTGAGATTATGTGTGTCAGAAAGCAACAAAAACTCAGTTCAGGAAATAGGACAACATGGGATCCAAGAAGCTAGAAATAACCGCAGAATGCAATGAAAGCAAATCCAAGCAAACGGCTGAGCCGCAGGCCTAGAAAGAAGCGAATATATATTAGACCATTCAACAAATAGGAAGATCAAACAGCTAGAAGATATCAAAGACCAAGGAGGAAGGTGGCACTCTTGCTTCTGAATCTCTGCAAATGTGGTTCCTTCTACAAAAGGAAACCAGCATGCTTTATTGTTAACCTACTTTTTTTGAAAAAGAAAAAAAAATGGAACTAGTTATAGTTTTCTGCAGTTTAAACATTCTAAAAGATTGTATCATGTGGAAAGCTTTTTTTCTTCCTCATTACACAGGTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAATGTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGGCCTCTGGCACCAGTTATCAAGTAAGATCCTCCAGCCAGCGGGGAGATGGGAGGAAGAATAGAAGAGAACATAGGAAACCCTGAAAGAGATTCCTGGGCTGCTTTGAGGTCTGGCCAGGAGGCAGACAGTTGTGTTGAGTCCATTGAAGAGCAGAGTGCAATTTATGGGTTTTTAAAAAAATCATAACTTATTTGGACCATAAAATTTATCAAATTCTATTTTTTTTTTCTTTTTGAGATGGAGTTTCACTGTGTTGCCCAGGCTGCAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTAGGACTACAGGCACCCACCACCATACCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAGTCCTGCGTTGGCCTTCCAAAGTGCTGGGATTATGGGAGTGAACCACCATGCCTGGCCTCAAATTCTTTAATTTACTTTTTCTTACTTTCTGCTGAACTCTTTTTTTTTTTTTTCTTGAGATGGAGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCGATTCTCGTGCTTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCGCACCATGCCTGGCTAATTTTTTGTAATCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGAGATCACAGGCATGAACCACCGTGCTCAGACCTGAACTCATTTTCCTTCTTAATGTATTATACCTCAAAGGATTCTTTCATTGGCCTCCATAGGACATGAACTTTCTGTGTCGTTTTGTGGTCTTTTATCTCCCATTCACAAGTAGATAATAATTTACCTGGATAAAATTTTAGGTTCAACCCTTTGGAGATATTACTCCTTTATCCACTTTTTTTTTCTTTTTTTTGTTTTTTGTTTTGATATGGAGTCTAACTCCGTCATCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTATACTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTTACCTCAAGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCGGCCTCTTTATCTACTTTTATCCAGGGTTATTGCCAAGAAATCTGATTCTTGCTTCTTTGAAAGAAATCTATTTTTTCTCTTTGGAAACATTTAGAATTTCTCTTGATCTTTGATGTTCTTAAATTTTACTATCTGGTATGGCACACAGTGAGGTTTTTCAGTTGAGGTCCTAATATCTTTAATACGGTTTTTTTGTTTTGGTTTGGGTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGTTGCGATCTCAGCTCAGTTTAACCTCTGCCTCTTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGCCCTGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCATCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCTCATTAATATCTAACAGGTTTGTTTAGTCCTGGAAAATTTTTTGTCATTATTTTTCCAGATATTCTTCTTCCTTTCATTTATGCTTTTCTAGCCTTCCAAGTAGTCTATTATTGTGATACTTCTACTTCTGTGCCCTAGTTCTCTTGTCTCTTCATTCCATCTCTTCATTCCTGATTCATTCCTGATGCCTTCTGCGAGTCCCTCCCCTCATCTGCCAG | pathogenic | 106,070 |
Evaluate if the mutation on chromosome 6 at position 24528167 in ALDH5A1 (aldehyde dehydrogenase 5 family member A1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Succinate-semialdehyde_dehydrogenase_deficiency'] | CATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCTAGGCTTAAAGTATAATAATAATAAAAAAAGAAGTATGTTCTAGGAAATGAAGCAATGAAAACAAAGAGTCTGTAGAAATTAGACATATGACTGTCACAAGATTCGGTACCTGAAGTAGATGATAAAATTTCGGAGATCTTATGGAGTTTAAAGCAAACTATAGAGAGGCAAAAAATATAATAGAAATGCAAAAAAAAATCAGAACTAATCTGAACTCCTGTTAATACCCGTCCAGTAGTAGGAGTTCTGGAGTGAAATAATTGGGAAAATGGAGGAAGTGACATTACCAAGTAAATAATAGATGGAAACTTCTCAGAGTTAGGGGAAAATAATTATTCTGCAGATTGAAAGATTTCACTGCTTACCAAGTAGGATGAATGAAAAGGGAATATATATATATCTTCTCTATATATATATATTCTATATATATATATCTTCTATATATATATTCTATATATATATCTACTATATATATATTCTATATATATCTACTATATATTCTATATATATATCTAATATATATATATGTGTGTGTGTATATATATATATATATATATATATATATATATAGTATTGCTAAAATTTTAGAATATCAGAGCATAGAAGATCCTAGGAGATTTCAGAGAGGAAAAAGCTATCAAGAAGAAAAAGGGTGAGAACCATTTTTGGCTCAAACTTCCTCAGCAACACCGGAAGTGGAGAAGTGCACTCAAAGTTCTGAAAGTTATTTTGTATCAGAATTCTGTACTCAAGCAAATTATCAATCAGGTGGAGTACAAAACACCAGAAACTTGGTGTATGAAAATTCAGAAACTAGACCACATCCAGTGCATCTTTTTTAAAACAACTACTTGGCCAGGCCTCGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGATGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCCGGGCGCGGTGGTGGGTGCCTATAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAAATAAATAAATAACAACTACTTGAGATTATGTGTGTCAGAAAGCAACAAAAACTCAGTTCAGGAAATAGGACAACATGGGATCCAAGAAGCTAGAAATAACCGCAGAATGCAATGAAAGCAAATCCAAGCAAACGGCTGAGCCGCAGGCCTAGAAAGAAGCGAATATATATTAGACCATTCAACAAATAGGAAGATCAAACAGCTAGAAGATATCAAAGACCAAGGAGGAAGGTGGCACTCTTGCTTCTGAATCTCTGCAAATGTGGTTCCTTCTACAAAAGGAAACCAGCATGCTTTATTGTTAACCTACTTTTTTTGAAAAAGAAAAAAAAATGGAACTAGTTATAGTTTTCTGCAGTTTAAACATTCTAAAAGATTGTATCATGTGGAAAGCTTTTTTTCTTCCTCATTACACAGGTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAATGTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGCCTCTGGCACCAGTTATCAAGTAAGATCCTCCAGCCAGCGGGGAGATGGGAGGAAGAATAGAAGAGAACATAGGAAACCCTGAAAGAGATTCCTGGGCTGCTTTGAGGTCTGGCCAGGAGGCAGACAGTTGTGTTGAGTCCATTGAAGAGCAGAGTGCAATTTATGGGTTTTTAAAAAAATCATAACTTATTTGGACCATAAAATTTATCAAATTCTATTTTTTTTTTCTTTTTGAGATGGAGTTTCACTGTGTTGCCCAGGCTGCAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTAGGACTACAGGCACCCACCACCATACCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAGTCCTGCGTTGGCCTTCCAAAGTGCTGGGATTATGGGAGTGAACCACCATGCCTGGCCTCAAATTCTTTAATTTACTTTTTCTTACTTTCTGCTGAACTCTTTTTTTTTTTTTTCTTGAGATGGAGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCGATTCTCGTGCTTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCGCACCATGCCTGGCTAATTTTTTGTAATCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGAGATCACAGGCATGAACCACCGTGCTCAGACCTGAACTCATTTTCCTTCTTAATGTATTATACCTCAAAGGATTCTTTCATTGGCCTCCATAGGACATGAACTTTCTGTGTCGTTTTGTGGTCTTTTATCTCCCATTCACAAGTAGATAATAATTTACCTGGATAAAATTTTAGGTTCAACCCTTTGGAGATATTACTCCTTTATCCACTTTTTTTTTCTTTTTTTTGTTTTTTGTTTTGATATGGAGTCTAACTCCGTCATCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTATACTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTTACCTCAAGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCGGCCTCTTTATCTACTTTTATCCAGGGTTATTGCCAAGAAATCTGATTCTTGCTTCTTTGAAAGAAATCTATTTTTTCTCTTTGGAAACATTTAGAATTTCTCTTGATCTTTGATGTTCTTAAATTTTACTATCTGGTATGGCACACAGTGAGGTTTTTCAGTTGAGGTCCTAATATCTTTAATACGGTTTTTTTGTTTTGGTTTGGGTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGTTGCGATCTCAGCTCAGTTTAACCTCTGCCTCTTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGCCCTGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCATCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCTCATTAATATCTAACAGGTTTGTTTAGTCCTGGAAAATTTTTTGTCATTATTTTTCCAGATATTCTTCTTCCTTTCATTTATGCTTTTCTAGCCTTCCAAGTAGTCTATTATTGTGATACTTCTACTTCTGTGCCCTAGTTCTCTTGTCTCTTCATTCCATCTCTTCATTCCTGATTCATTCCTGATGCCTTCTGCGAGTCCCTCCCCTCATCTGCCAGCATATTAATGCATTCTTCAGATATA | CATGCCACACATCCCCAAATTGATCAACCCAGTCCTTGTGTGTGTGTGTGTCCCCCAAACACACTGCTGGAGCTGAGAAGGAGCTGACCAGGTTAGTTTCGACAACTCAGTCCTTCATTCAGAAAGATGAACAACCAAGGATCATGATGGGAAAACCACCAGCACATAAGAGGAAAGGTCAGGAAGAACAAACAGAATAGTCCCTGAAGGAAGCAGATAAATTAGGGAACTGGAAGGAAATTTTCTAAAAATCTCATAGTGTCCTGCAAGAGTTTTGGGAAGATAGTACATCTGTAAACTGTTAATAAGAAGTATGTTCTAGGCTTAAAGTATAATAATAATAAAAAAAGAAGTATGTTCTAGGAAATGAAGCAATGAAAACAAAGAGTCTGTAGAAATTAGACATATGACTGTCACAAGATTCGGTACCTGAAGTAGATGATAAAATTTCGGAGATCTTATGGAGTTTAAAGCAAACTATAGAGAGGCAAAAAATATAATAGAAATGCAAAAAAAAATCAGAACTAATCTGAACTCCTGTTAATACCCGTCCAGTAGTAGGAGTTCTGGAGTGAAATAATTGGGAAAATGGAGGAAGTGACATTACCAAGTAAATAATAGATGGAAACTTCTCAGAGTTAGGGGAAAATAATTATTCTGCAGATTGAAAGATTTCACTGCTTACCAAGTAGGATGAATGAAAAGGGAATATATATATATCTTCTCTATATATATATATTCTATATATATATATCTTCTATATATATATTCTATATATATATCTACTATATATATATTCTATATATATCTACTATATATTCTATATATATATCTAATATATATATATGTGTGTGTGTATATATATATATATATATATATATATATATATAGTATTGCTAAAATTTTAGAATATCAGAGCATAGAAGATCCTAGGAGATTTCAGAGAGGAAAAAGCTATCAAGAAGAAAAAGGGTGAGAACCATTTTTGGCTCAAACTTCCTCAGCAACACCGGAAGTGGAGAAGTGCACTCAAAGTTCTGAAAGTTATTTTGTATCAGAATTCTGTACTCAAGCAAATTATCAATCAGGTGGAGTACAAAACACCAGAAACTTGGTGTATGAAAATTCAGAAACTAGACCACATCCAGTGCATCTTTTTTAAAACAACTACTTGGCCAGGCCTCGTGGCTCACTCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGAATCACGAGGTCAGGAGTTCGAGACCAGCCTGGCCAAGATGATGAAACCCTGTCTCTTCTAAAAATACAAAAATTAGCCGGGCGCGGTGGTGGGTGCCTATAATCCTAGCTACTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGGTCATGCCACTGCACTCCAGCCTGGGTGACAGAGCGAGATTCCATCTCAAAAACAAATAAATAAATAACAACTACTTGAGATTATGTGTGTCAGAAAGCAACAAAAACTCAGTTCAGGAAATAGGACAACATGGGATCCAAGAAGCTAGAAATAACCGCAGAATGCAATGAAAGCAAATCCAAGCAAACGGCTGAGCCGCAGGCCTAGAAAGAAGCGAATATATATTAGACCATTCAACAAATAGGAAGATCAAACAGCTAGAAGATATCAAAGACCAAGGAGGAAGGTGGCACTCTTGCTTCTGAATCTCTGCAAATGTGGTTCCTTCTACAAAAGGAAACCAGCATGCTTTATTGTTAACCTACTTTTTTTGAAAAAGAAAAAAAAATGGAACTAGTTATAGTTTTCTGCAGTTTAAACATTCTAAAAGATTGTATCATGTGGAAAGCTTTTTTTCTTCCTCATTACACAGGTGGAGAAACAGGTGAATGATGCCGTTTCTAAAGGTGCCACCGTTGTGACAGGTGGAAAACGACACCAACTTGGAAAAAATTTCTTTGAGCCTACCCTGCTGTGCAATGTCACCCAGGACATGCTGTGCACTCATGAAGAGACTTTCGGGCCTCTGGCACCAGTTATCAATTAGATCCTCCAGCCAGCGGGGAGATGGGAGGAAGAATAGAAGAGAACATAGGAAACCCTGAAAGAGATTCCTGGGCTGCTTTGAGGTCTGGCCAGGAGGCAGACAGTTGTGTTGAGTCCATTGAAGAGCAGAGTGCAATTTATGGGTTTTTAAAAAAATCATAACTTATTTGGACCATAAAATTTATCAAATTCTATTTTTTTTTTCTTTTTGAGATGGAGTTTCACTGTGTTGCCCAGGCTGCAGTGCAATGGTGCGATCTTGGCTCACTGCAACCTCTGCCTCCTTGGTTAAAGCAATTCTCCTGCCTCAGCCTCCAGAGTAGCTAGGACTACAGGCACCCACCACCATACCAGGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTAGTCCTGCGTTGGCCTTCCAAAGTGCTGGGATTATGGGAGTGAACCACCATGCCTGGCCTCAAATTCTTTAATTTACTTTTTCTTACTTTCTGCTGAACTCTTTTTTTTTTTTTTCTTGAGATGGAGGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCGATTCTCGTGCTTCAGCCTTCCGAGTAGCTGGGACTACAGGCACGCGCACCATGCCTGGCTAATTTTTTGTAATCTAGTAGAGATGTGGTTTCACCATGTTGGCCAGGCTGTTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCTGCCTCCCAAAGTGCTGAGATCACAGGCATGAACCACCGTGCTCAGACCTGAACTCATTTTCCTTCTTAATGTATTATACCTCAAAGGATTCTTTCATTGGCCTCCATAGGACATGAACTTTCTGTGTCGTTTTGTGGTCTTTTATCTCCCATTCACAAGTAGATAATAATTTACCTGGATAAAATTTTAGGTTCAACCCTTTGGAGATATTACTCCTTTATCCACTTTTTTTTTCTTTTTTTTGTTTTTTGTTTTGATATGGAGTCTAACTCCGTCATCCAGGCTGGAGTGCAGTGGTATGATCTCGGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCTTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATGTGCCACCACACCTGGCTAATTTTTATACTTTTAATAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGCCTCAAACTCCTTACCTCAAGTGATCCAACAGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGTCACCACGCCCGGCCTCTTTATCTACTTTTATCCAGGGTTATTGCCAAGAAATCTGATTCTTGCTTCTTTGAAAGAAATCTATTTTTTCTCTTTGGAAACATTTAGAATTTCTCTTGATCTTTGATGTTCTTAAATTTTACTATCTGGTATGGCACACAGTGAGGTTTTTCAGTTGAGGTCCTAATATCTTTAATACGGTTTTTTTGTTTTGGTTTGGGTTTTTTTTTTTTTTTTTTTTTGATGGAGTCTCGCTCTGTCACCCAAGCTGGAGTGCAGTGTTGCGATCTCAGCTCAGTTTAACCTCTGCCTCTTGGGTTCAAGCGATTCTCCTGACTCAGCCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCAGGCCCTGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCGCCATGTTGGCCAGGATGGTCTCGAACTCCTGACCTCAAGTGATCCACCCGCCTCAGCATCCCAAAGGGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCTCATTAATATCTAACAGGTTTGTTTAGTCCTGGAAAATTTTTTGTCATTATTTTTCCAGATATTCTTCTTCCTTTCATTTATGCTTTTCTAGCCTTCCAAGTAGTCTATTATTGTGATACTTCTACTTCTGTGCCCTAGTTCTCTTGTCTCTTCATTCCATCTCTTCATTCCTGATTCATTCCTGATGCCTTCTGCGAGTCCCTCCCCTCATCTGCCAGCATATTAATGCATTCTTCAGATATAN | pathogenic | 106,072 |
Variant on chromosome 6, at position 26091518, affecting HFE (homeostatic iron regulator): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Alzheimer_disease_type_1', 'Familial_porphyria_cutanea_tarda', 'Hemochromatosis_type_1', 'Hereditary_hemochromatosis', 'Microvascular_complications_of_diabetes,_susceptibility_to,_7', 'TRANSFERRIN_SERUM_LEVEL_QUANTITATIVE_TRAIT_LOCUS_2', 'Variegate_porphyria'] | AAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTGATCCTAGCTACTCGGGAGGCTGAGGTGGAGGGTATTGCTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGACTGTGCCACTGTACTTCAGCCTAGGTGACAGAGCAAGACCCTGTCTCCCCTGACCCCCTGAAAAAGAGAAGAGTTAAAGTTGACTTTGTTCTTTATTTTAATTTTATTGGCCTGAGCAGTGGGGTAATTGGCAATGCCATTTCTGAGATGGTGAAGGCAGAGGAAAGAGCAGTTTGGGGTAAATCAAGGATCTGCATTTGGACATGTTAAGTTTGAGATTCCAGTCAGGCTTCCAAGTGGTGAGGCCACATAGGCAGTTCAGTGTAAGAATTCAGGACCAAGGCTGGGCACGGTGGCTCACTTCTGTAATCCCAGCACTTTGGTGGCTGAGGCAGGTAGATCATTTGAGGTCAGGAGTTTGAGACAAGCTTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCGCACGCCTATAGTCCCAGGTTTTCAGGAGGCTTAGGTAGGAGAATCCCTTGAACCCAGGAGGTGCAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGAAGGAATTATTCCTCAGGATTTGGGTCTAATTTGCCCTGAGCACCAACTCCTGAGTTCAACTACCATGGCTAGACACACCTTAACATTTTCTAGAATCCACCAGCTTTAGTGGAGTCTGTCTAATCATGAGTATTGGAATAGGATCTGGGGGCAGTGAGGGGGTGGCAGCCACGTGTGGCAGAGAAAAGCACACAAGGAAAGAGCACCCAGGACTGTCATATGGAAGAAAGACAGGACTGCAACTCACCCTTCACAAAATGAGGACCAGACACAGCTGATGGTATGAGTTGATGCAGGTGTGTGGAGCCTCAACATCCTGCTCCCCTCCTACTACACATGGTTAAGGCCTGTTGCTCTGTCTCCAGGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGTCTGAGGTCTTGTGGGAGCAGGGAAGAGGGAAGGAATTTGCTTCCTGAGATCATTTGGTCCTTGGGGATGGTGGAAATAGGGACCTATTCCTTTGGTTGCAGTTAACAAGGCTGGGGATTTTTCCAGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTACCTGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGGTATGGTGGAAACACACTTCTGCCCCTATACTCTAGTGGCAGAGTGGAGGAGGTTGCAGGGCACGGAATCCCTGGTTGGAGTTTCAGAGGTGGCTGAGGCTGTGTGCCTCTCCAAATTCTGGGAAGGGACTTTCTCAATCCTAGAGTCTCTACCTTATAATTGAGATGTATGAGACAGCCACAAGTCATGGGTTTAATTTCTTTTCTCCATGCATATGGCTCAAAGGGAAGTGTCTATGGCCCTTGCTTTTTATTTAACCAATAATCTTTTGTATATTTATACCTGTTAAAAATTCAGAAATGTCAAGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTAAAAAAATACAAAAATTAGCTGGTCACAGTCATGCGCACCTGTAGTCCCAGCTAATTGGAAGGCTGAGGCAGGAGCATCGCTTGAACCTGGGAAGCGGAAGTTGCACTGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATATTTACATGTGAGGAGAACAAGCTGATCTGACTGCTCTCCAAGTGACACTGTGTTAGAGTCCAATCTTAGGACACAAAATGGTGTCTCTCCTGTAGCTTGTTTTTTTCTGAAAAGGGTATTTCCTTCCTCCAACCTATAGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGGTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGGTAATTATGGCAGTGAGATGAGGATCTGCTCTTTGTTAGGGGGTGGGCTGAGGGTGGCAATCAAAGGCTTTAACTTGCTTTTTCTGTTTTAGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGTGAGTAGGAACAAGGGGGAAGTCTCTTAGTACCTCTGCCCCAGGGCACAGTGGGAAGAGGGGCAGAGGGGATCTGGCATCCATGGGAAGCATTTTTCTCATTTATATTCTTTGGGGACACCAGCAGCTCCCTGGGAGACAGAAAATAATGGTTCTCCCCAGAATGAAAGTCTCTAATTCAACAAACATCTTCAGAGCACCTACTATTTTGCAAGAGCTGTTTAAGGTAGTACAGGGGCTTTGAGGTTGAGAAGTCACTGTGGCTATTCTCAGAACCCAAATCTGGTAGGGAATGAAATTGATAGCAAGTAAATGTAGTTAAAGAAGACCCCA | AAAGCAGAATGAAGGGAGCAACAGTAAAAGCAGGGAGCCCAGCCAGGAAGCTGTTACACAGTCCAGGCAAGAGGTAGTGGAGTGGGCTGGGTGGGAACAGAAAAGGGAGTGACAAACCATTGTCTCCTGAATATATTCTGAAGGAAGTTGCTGAAGGATTCTATGTTGTGTGAGAGAAAGAGAAGAATTGGCTGGGTGTAGTAGCTCATGCCAAGGAGGAGGCCAAGGAGAGCAGATTCCTGAGCTCAGGAGTTCAAGACCAGCCTGGGCAACACAGCAAAACCCCTTCTCTACAAAAAATACAAAAATTAGCTGGGTGTGGTGGCATGCACCTGTGATCCTAGCTACTCGGGAGGCTGAGGTGGAGGGTATTGCTTGAGCCCAGGAAGTTGAGGCTGCAGTGAGCCATGACTGTGCCACTGTACTTCAGCCTAGGTGACAGAGCAAGACCCTGTCTCCCCTGACCCCCTGAAAAAGAGAAGAGTTAAAGTTGACTTTGTTCTTTATTTTAATTTTATTGGCCTGAGCAGTGGGGTAATTGGCAATGCCATTTCTGAGATGGTGAAGGCAGAGGAAAGAGCAGTTTGGGGTAAATCAAGGATCTGCATTTGGACATGTTAAGTTTGAGATTCCAGTCAGGCTTCCAAGTGGTGAGGCCACATAGGCAGTTCAGTGTAAGAATTCAGGACCAAGGCTGGGCACGGTGGCTCACTTCTGTAATCCCAGCACTTTGGTGGCTGAGGCAGGTAGATCATTTGAGGTCAGGAGTTTGAGACAAGCTTGGCCAACATGGTGAAACCCCATGTCTACTAAAAATACAAAAATTAGCCTGGTGTGGTGGCGCACGCCTATAGTCCCAGGTTTTCAGGAGGCTTAGGTAGGAGAATCCCTTGAACCCAGGAGGTGCAGGTTGCAGTGAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGTGATAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAACTGAAGGAATTATTCCTCAGGATTTGGGTCTAATTTGCCCTGAGCACCAACTCCTGAGTTCAACTACCATGGCTAGACACACCTTAACATTTTCTAGAATCCACCAGCTTTAGTGGAGTCTGTCTAATCATGAGTATTGGAATAGGATCTGGGGGCAGTGAGGGGGTGGCAGCCACGTGTGGCAGAGAAAAGCACACAAGGAAAGAGCACCCAGGACTGTCATATGGAAGAAAGACAGGACTGCAACTCACCCTTCACAAAATGAGGACCAGACACAGCTGATGGTATGAGTTGATGCAGGTGTGTGGAGCCTCAACATCCTGCTCCCCTCCTACTACACATGGTTAAGGCCTGTTGCTCTGTCTCCAGGTTCACACTCTCTGCACTACCTCTTCATGGGTGCCTCAGAGCAGGACCTTGGTCTTTCCTTGTTTGAAGCTTTGGGCTACGTGGATGACCAGCTGTTCGTGTTCTATGATCATGAGAGTCGCCGTGTGGAGCCCCGAACTCCATGGGTTTCCAGTAGAATTTCAAGCCAGATGTGGCTGCAGCTGAGTCAGAGTCTGAAAGGGTGGGATCACATGTTCACTGTTGACTTCTGGACTATTATGGAAAATCACAACCACAGCAAGGGTATGTGGAGAGGGGGCCTCACCTTCCTGAGGTTGTCAGAGCTTTTCATCTTTTCATGCATCTTGAAGGAAACAGCTGGAAGTCTGAGGTCTTGTGGGAGCAGGGAAGAGGGAAGGAATTTGCTTCCTGAGATCATTTGGTCCTTGGGGATGGTGGAAATAGGGACCTATTCCTTTGGTTGCAGTTAACAAGGCTGGGGATTTTTCCAGAGTCCCACACCCTGCAGGTCATCCTGGGCTGTGAAATGCAAGAAGACAACAGTACCGAGGGCTACTGGAAGTACGGGTATGATGGGCAGGACCACCTTGAATTCTGCCCTGACACACTGGATTGGAGAGCAGCAGAACCCAGGGCCTGGCCCACCAAGCTGGAGTGGGAAAGGCACAAGATTCGGGCCAGGCAGAACAGGGCCTATGGAGAGGGACTGCCCTGCACAGCTGCAGCAGTTGCTGGAGCTGGGGAGAGGTGTTTTGGACCAACAAGGTATGGTGGAAACACACTTCTGCCCCTATACTCTAGTGGCAGAGTGGAGGAGGTTGCAGGGCACGGAATCCCTGGTTGGAGTTTCAGAGGTGGCTGAGGCTGTGTGCCTCTCCAAATTCTGGGAAGGGACTTTCTCAATCCTAGAGTCTCTACCTTATAATTGAGATGTATGAGACAGCCACAAGTCATGGGTTTAATTTCTTTTCTCCATGCATATGGCTCAAAGGGAAGTGTCTATGGCCCTTGCTTTTTATTTAACCAATAATCTTTTGTATATTTATACCTGTTAAAAATTCAGAAATGTCAAGGCCGGGCACGGTGGCTCACCCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGTCACAAGGTCAGGAGTTTGAGACCAGCCTGACCAACATGGTGAAACCCGTCTCTAAAAAAATACAAAAATTAGCTGGTCACAGTCATGCGCACCTGTAGTCCCAGCTAATTGGAAGGCTGAGGCAGGAGCATCGCTTGAACCTGGGAAGCGGAAGTTGCACTGAGCCAAGATCGCGCCACTGCACTCCAGCCTAGGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATATTTACATGTGAGGAGAACAAGCTGATCTGACTGCTCTCCAAGTGACACTGTGTTAGAGTCCAATCTTAGGACACAAAATGGTGTCTCTCCTGTAGCTTGTTTTTTTCTGAAAAGGGTATTTCCTTCCTCCAACCTATAGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGGTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGGTAATTATGGCAGTGAGATGAGGATCTGCTCTTTGTTAGGGGGTGGGCTGAGGGTGGCAATCAAAGGCTTTAACTTGCTTTTTCTGTTTTAGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGTGAGTAGGAACAAGGGGGAAGTCTCTTAGTACCTCTGCCCCAGGGCACAGTGGGAAGAGGGGCAGAGGGGATCTGGCATCCATGGGAAGCATTTTTCTCATTTATATTCTTTGGGGACACCAGCAGCTCCCTGGGAGACAGAAAATAATGGTTCTCCCCAGAATGAAAGTCTCTAATTCAACAAACATCTTCAGAGCACCTACTATTTTGCAAGAGCTGTTTAAGGTAGTACAGGGGCTTTGAGGTTGAGAAGTCACTGTGGCTATTCTCAGAACCCAAATCTGGTAGGGAATGAAATTGATAGCAAGTAAATGTAGTTAAAGAAGACCCCANN | pathogenic | 106,168 |
For chromosome 6, position 26094198, gene HFE (homeostatic iron regulator): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hemochromatosis_type_1', 'Hereditary_hemochromatosis'] | GGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATATTTACATGTGAGGAGAACAAGCTGATCTGACTGCTCTCCAAGTGACACTGTGTTAGAGTCCAATCTTAGGACACAAAATGGTGTCTCTCCTGTAGCTTGTTTTTTTCTGAAAAGGGTATTTCCTTCCTCCAACCTATAGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGGTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGGTAATTATGGCAGTGAGATGAGGATCTGCTCTTTGTTAGGGGGTGGGCTGAGGGTGGCAATCAAAGGCTTTAACTTGCTTTTTCTGTTTTAGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGTGAGTAGGAACAAGGGGGAAGTCTCTTAGTACCTCTGCCCCAGGGCACAGTGGGAAGAGGGGCAGAGGGGATCTGGCATCCATGGGAAGCATTTTTCTCATTTATATTCTTTGGGGACACCAGCAGCTCCCTGGGAGACAGAAAATAATGGTTCTCCCCAGAATGAAAGTCTCTAATTCAACAAACATCTTCAGAGCACCTACTATTTTGCAAGAGCTGTTTAAGGTAGTACAGGGGCTTTGAGGTTGAGAAGTCACTGTGGCTATTCTCAGAACCCAAATCTGGTAGGGAATGAAATTGATAGCAAGTAAATGTAGTTAAAGAAGACCCCATGAGGTCCTAAAGCAGGCAGGAAGCAAATGCTTAGGGTGTCAAAGGAAAGAATGATCACATTCAGCTGGGGATCAAGATAGCCTTCTGGATCTTGAAGGAGAAGCTGGATTCCATTAGGTGAGGTTGAAGATGATGGGAGGTCTACACAGACGGAGCAACCATGCCAAGTAGGAGAGTATAAGGCATACTGGGAGATTAGAAATAATTACTGTACCTTAACCCTGAGTTTGCGTAGCTATCACTCACCAATTATGCATTTCTACCCCCTGAACATCTGTGGTGTAGGGAAAAGAGAATCAGAAAGAAGCCAGCTCATACAGAGTCCAAGGGTCTTTTGGGATATTGGGTTATGATCACTGGGGTGTCATTGAAGGATCCTAAGAAAGGAGGACCACGATCTCCCTTATATGGTGAATGTGTTGTTAAGAAGTTAGATGAGAGGTGAGGAGACCAGTTAGAAAGCCAATAAGCATTTCCAGATGAGAGATAATGGTTCTTGAAATCCAATAGTGCCCAGGTCTAAATTGAGATGGGTGAATGAGGAAAATAAGGAAGAGAGAAGAGGCAAGATGGTGCCTAGGTTTGTGATGCCTCTTTCCTGGGTCTCTTGTCTCCACAGGAGGAGCCATGGGGCACTACGTCTTAGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGATGGCTCTTCTCTTGTCTCATTGTGTTTCTTCTGAGTGAGCTTGAATCACATGAAGGGGAACAGCAGAAAACAACCAACTGATCCTCAGCTGTCATGTTTCCTTTAAAAGTCCCTGAAGGAAGGTCCTGGAATGTGACTCCCTTGCTCCTCTGTTGCTCTCTTTGGCATTCATTTCTTTGGACCCTACGCAAGGACTGTAATTGGTGGGGACAGCTAGTGGCCCTGCTGGGCTTCACACACGGTGTCCTCCCTAGGCCAGTGCCTCTGGAGTCAGAACTCTGGTGGTATTTCCCTCAATGAAGTGGAGTAAGCTCTCTCATTTTGAGATGGTATAATGGAAGCCACCAAGTGGCTTAGAGGATGCCCAGGTCCTTCCATGGAGCCACTGGGGTTCCGGTGCACATTAAAAAAAAAATCTAACCAGGACATTCAGGAATTGCTAGATTCTGGGAAATCAGTTCACCATGTTCAAAAGAGTCTTTTTTTTTTTTTTGAGACTCTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCT | GGCAGCAGAGTGAGACTCCATCTTAAAAAAAAAAAAAAAAAAAAAAAGAGAATTCAGAGATCTCAGCTATCATATGAATACCAGGACAAAATATCAAGTGAGGCCACTTATCAGAGTAGAAGAATCCTTTAGGTTAAAAGTTTCTTTCATAGAACATAGCAATAATCACTGAAGCTACCTATCTTACAAGTCCGCTTCTTATAACAATGCCTCCTAGGTTGACCCAGGTGAAACTGACCATCTGTATTCAATCATTTTCAATGCACATAAAGGGCAATTTTATCTATCAGAACAAAGAACATGGGTAACAGATATGTATATTTACATGTGAGGAGAACAAGCTGATCTGACTGCTCTCCAAGTGACACTGTGTTAGAGTCCAATCTTAGGACACAAAATGGTGTCTCTCCTGTAGCTTGTTTTTTTCTGAAAAGGGTATTTCCTTCCTCCAACCTATAGAAGGAAGTGAAAGTTCCAGTCTTCCTGGCAAGGGTAAACAGATCCCCTCTCCTCATCCTTCCTCTTTCCTGTCAAGTGCCTCCTTTGGTGAAGGTGACACATCATGTGACCTCTTCAGTGACCACTCTACGGTGTCGGGCCTTGAACTACTACCCCCAGAACATCACCATGAAGTGGCTGAAGGATAAGCAGCCAATGGATGCCAAGGAGTTCGAACCTAAAGACGTATTGCCCAATGGGGATGGGACCTACCAGGGCTGGATAACCTTGGCTGTACCCCCTGGGGAAGAGCAGAGATATACGTGCCAGGTGGAGCACCCAGGCCTGGATCAGCCCCTCATTGTGATCTGGGGTATGTGACTGATGAGAGCCAGGAGCTGAGAAAATCTATTGGGGGTTGAGAGGAGTGCCTGAGGAGGTAATTATGGCAGTGAGATGAGGATCTGCTCTTTGTTAGGGGGTGGGCTGAGGGTGGCAATCAAAGGCTTTAACTTGCTTTTTCTGTTTTAGAGCCCTCACCGTCTGGCACCCTAGTCATTGGAGTCATCAGTGGAATTGCTGTTTTTGTCGTCATCTTGTTCATTGGAATTTTGTTCATAATATTAAGGAAGAGGCAGGGTTCAAGTGAGTAGGAACAAGGGGGAAGTCTCTTAGTACCTCTGCCCCAGGGCACAGTGGGAAGAGGGGCAGAGGGGATCTGGCATCCATGGGAAGCATTTTTCTCATTTATATTCTTTGGGGACACCAGCAGCTCCCTGGGAGACAGAAAATAATGGTTCTCCCCAGAATGAAAGTCTCTAATTCAACAAACATCTTCAGAGCACCTACTATTTTGCAAGAGCTGTTTAAGGTAGTACAGGGGCTTTGAGGTTGAGAAGTCACTGTGGCTATTCTCAGAACCCAAATCTGGTAGGGAATGAAATTGATAGCAAGTAAATGTAGTTAAAGAAGACCCCATGAGGTCCTAAAGCAGGCAGGAAGCAAATGCTTAGGGTGTCAAAGGAAAGAATGATCACATTCAGCTGGGGATCAAGATAGCCTTCTGGATCTTGAAGGAGAAGCTGGATTCCATTAGGTGAGGTTGAAGATGATGGGAGGTCTACACAGACGGAGCAACCATGCCAAGTAGGAGAGTATAAGGCATACTGGGAGATTAGAAATAATTACTGTACCTTAACCCTGAGTTTGCGTAGCTATCACTCACCAATTATGCATTTCTACCCCCTGAACATCTGTGGTGTAGGGAAAAGAGAATCAGAAAGAAGCCAGCTCATACAGAGTCCAAGGGTCTTTTGGGATATTGGGTTATGATCACTGGGGTGTCATTGAAGGATCCTAAGAAAGGAGGACCACGATCTCCCTTATATGGTGAATGTGTTGTTAAGAAGTTAGATGAGAGGTGAGGAGACCAGTTAGAAAGCCAATAAGCATTTCCAGATGAGAGATAATGGTTCTTGAAATCCAATAGTGCCCAGGTCTAAATTGAGATGGGTGAATGAGGAAAATAAGGAAGAGAGAAGAGGCAAGATGGTGCCTAGGTTTGTGATGCCTCTTTCCTGGGTCTCTTGTCTCCACAGGAGGAGCCATGGGGCTGAACGTGAGTGACACGCAGCCTGCAGACTCACTGTGGGAAGGAGACAAAACTAGAGACTCAAAGAGGGAGTGCATTTATGAGCTCTTCATGTTTCAGGAGAGAGTTGAACCTAAACATAGAAATTGCCTGACGAACTCCTTGATTTTAGCCTTCTCTGTTCATTTCCTCAAAAAGATTTCCCCATTTAGGTTTCTGAGTTCCTGCATGCCGGTGATCCCTAGCTGTGACCTCTCCCCTGGAACTGTCTCTCATGAACCTCAAGCTGCATCTAGAGGCTTCCTTCATTTCCTCCGTCACCTCAGAGACATACACCTATGTCATTTCATTTCCTATTTTTGGAAGAGGACTCCTTAAATTTGGGGGACTTACATGATTCATTTTAACATCTGAGAAAAGCTTTGAACCCTGGGACGTGGCTAGTCATAACCTTACCAGATTTTTACACATGTATCTATGCATTTTCTGGACCCGTTCAACTTTTCCTTTGAATCCTCTCTCTGTGTTACCCAGTAACTCATCTGTCACCAAGCCTTGGGGATTCTTCCATCTGATTGTGATGTGAGTTGCACAGCTATGAAGGCTGTACACTGCACGAATGGAAGAGGCACCTGTCCCAGAAAAAGCATCATGGCTATCTGTGGGTAGTATGATGGGTGTTTTTAGCAGGTAGGAGGCAAATATCTTGAAAGGGGTTGTGAAGAGGTGTTTTTTCTAATTGGCATGAAGGTGTCATACAGATTTGCAAAGTTTAATGGTGCCTTCATTTGGGATGCTACTCTAGTATTCCAGACCTGAAGAATCACAATAATTTTCTACCTGGTCTCTCCTTGTTCTGATAATGAAAATTATGATAAGGATGATAAAAGCACTTACTTCGTGTCCGACTCTTCTGAGCACCTACTTACATGCATTACTGCATGCACTTCTTACAATAATTCTATGAGATAGGTACTATTATCCCCATTTCTTTTTTAAATGAAGAAAGTGAAGTAGGCCGGGCACGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAAGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCATCTCTAATAAAAATACAAAAAATTAGCTGGGCGTGGTGGCAGACGCCTGTAGTCCCAGCTACTCGGAAGGCTGAGGCAGGAGAATGGCATGAACCCAGGAGGCAGAGCTTGCAGTGAGCCGAGTTTGCGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGACTCCATCTCAAAAAAATAAAAATAAAAATAAAAAAATGAAAAAAAAAAGAAAGTGAAGTATAGAGTATCTCATAGTTTGTCAGTGATAGAAACAGGTTTCAAACTCAGTCAATCTGACCGTTTGATACATCTCAGACACCACTACATTCAGTAGTTTAGATGCCTAGAATAAATAGAGAAGGAAGGAGATGGCTCTTCTCTTGTCTCATTGTGTTTCTTCTGAGTGAGCTTGAATCACATGAAGGGGAACAGCAGAAAACAACCAACTGATCCTCAGCTGTCATGTTTCCTTTAAAAGTCCCTGAAGGAAGGTCCTGGAATGTGACTCCCTTGCTCCTCTGTTGCTCTCTTTGGCATTCATTTCTTTGGACCCTACGCAAGGACTGTAATTGGTGGGGACAGCTAGTGGCCCTGCTGGGCTTCACACACGGTGTCCTCCCTAGGCCAGTGCCTCTGGAGTCAGAACTCTGGTGGTATTTCCCTCAATGAAGTGGAGTAAGCTCTCTCATTTTGAGATGGTATAATGGAAGCCACCAAGTGGCTTAGAGGATGCCCAGGTCCTTCCATGGAGCCACTGGGGTTCCGGTGCACATTAAAAAAAAAATCTAACCAGGACATTCAGGAATTGCTAGATTCTGGGAAATCAGTTCACCATGTTCAAAAGAGTCTTTTTTTTTTTTTTGAGACTCTATTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACTGTAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTNNNNNNNNNNNNN | pathogenic | 106,178 |
The chromosome 6, position 26156750 genetic variant in gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['HIST1H1E-related_neurodevelopmental_disorder_with_multiple_anomalies', 'Rahman_syndrome'] | TTTTTGAGACGGAGTCTTGCTCTTTCGCCTAGGCCTGACTGCAGTGGCACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCAC | TTTTTGAGACGGAGTCTTGCTCTTTCGCCTAGGCCTGACTGCAGTGGCACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCA | pathogenic | 106,187 |
Regarding the variant at chromosome 6 and position 26156797, affecting gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Rahman_syndrome'] | CACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGG | CACTATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTG | pathogenic | 106,190 |
Chromosome 6, position 26156801, gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Inborn_genetic_diseases', 'Rahman_syndrome'] | ATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGGTTTC | ATCTAGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGGTTT | pathogenic | 106,191 |
Gene H1-4 (H1.4 linker histone, cluster member) variant at chromosome 6, position 26156815—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Inborn_genetic_diseases', 'Rahman_syndrome'] | CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGGTTTCCGTGTGCAGATTTC | CAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGGTTTCCGTGTGCAGATTT | pathogenic | 106,192 |
Evaluate the clinical significance of the mutation at chromosome 6, position 26156821 in gene H1-4 (H1.4 linker histone, cluster member): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Rahman_syndrome'] | CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGGTTTCCGTGTGCAGATTTCCAAGTT | CCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGGACTGCAGGCGCCCGCCACCGCACCCGGCTAATTTTTTGTACTTTTAGTAGATACAGGGTTTCACCGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGTCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGACCAGAAATAATTCTTTTGGTTGGGCTTTCATTGCCAGCTTACATACACTCTTCTTGATTGGGCAACTACCTAAAGAAATTCACTCAGACATTGTTCAAAGGATGTTTTCAGAGGGCAATGATTTATAATAGCTTAGATAGACTCTCAAAGCTCTACTTCTGAGATCGAAATTTGAACTTGTCGTTTAATCACTACATGTCACTTATTTTTCTTTCTATTGAGCTCTGGGAAGCATTGGAATACAATCTTCAGGGGGATTGAAACCATACGTGGTGAGTGGACTAGTCATTCCTCAACTATTCAGTAATAATAGGGGCTGGGTTTCACTAATAATGGGAGTAGATGTTTCAATCTACGTTTCTTATTTATTTTGCCTTATCATCAATGCTTGAATTTCAGCTCTAAGCTACTTTATTGCAATTTGGTTCTGAAGCATATGCCAAAAGCACTCAGCAAGGCTGCAGACAAATGCTTTAAAGTAAAGTGCACCTCCACTTCCAGTGACTTTATGAACATCACATTTGAAAATTAATCCTTTTTCATCTCTGTACCCTGAGTACATTTTGGACTTCCCTTCGTTCCCAAATACCCTGAATTCAAGGTATCTCAATCCATGGAGCAATTGTCCAGAGGAAGAGAGAAGCAACAGCCCCGCCCCCAACCCTTGGGAGCAGAAAGGGAAAGAATTATCCAAAGAATTGTTTAAAAACTCAGATGTAGCGGACAGATGTAAAACCATGGCTGTATAGATTGATGTCCCAGGGGTCCAAAACTTAATCTCAAATGGGCAATAATTTGTTTGGCATTAAACTAAACCAGTTTGATGAACTCAAATGCCCTCGGCTCAATAGGCAGGACTCTCCGAGGAGCCTGTGTTACTTCCCTCACTTAAGTGCAGATTTGTAATAAAAATCTTAATGCCAGTGGCATGCTTTTTGGATATATAAGAAGCTAACCACTTGGAGTATCATATTTGAGAGGTCAGAAAAGTCCACAGTTAAAGATCGGTTTATAATTTACGAAGAAAATAGAAAGTTTTGTTTCTCTGAGTTGAAATTTGCCAAGCACGGCGGGAAATATTGCAAGTTTTTGGCACAAGGCTTTGTGCTTCCCTTATAATTTGAGATCTGCGTGAAGCCTGAGGGTTCGGGGATCATTATCTGAGAAAAACCGGGCAGTTCGGTGTAGACAATTTTTATATTTTTGGCTTTTTTTGAGGTGTAACAAACACAACTCGGGATCCGAGAGGACACTCTGCGGCTGCCAGCGAGGCGGGCTGGACAGCGCACCAATCACGGCGCAGCTCCGCCCTATATAAACGGGCGGGCGCAGCGCCGCGGCTCGAGTCCCGGCCAGTGCCTCTGCTTCCGGCTCGAATTGCTCTCGCTCACGCTTGCCTTCAACATGTCCGAGACTGCGCCTGCCGCGCCCGCTGCTCCGGCCCCTGCCGAGAAGACTCCCGTGAAGAAGAAGGCCCGCAAGTCTGCAGGTGCGGCCAAGCGCAAAGCGTCTGGGCCCCCGGTGTCCGAGCTCATTACTAAAGCTGTTGCCGCCTCCAAGGAGCGCAGCGGCGTATCTTTGGCCGCTCTCAAGAAAGCGCTGGCAGCCGCTGGCTATGACGTGGAGAAGAACAACAGCCGCATCAAGCTGGGTCTCAAGAGCCTGGTGAGCAAGGGCACCCTGGTGCAGACCAAGGGCACCGGCGCGTCGGGTTCCTTCAAACTCAACAAGAAGGCGGCCTCTGGGGAAGCCAAGCCTAAGGCTAAAAAGGCAGGCGCGGCCAAGGCCAAGAAGCCAGCAGGAGCGGCGAAGAAGCCCAAGAAGGCGACGGGGGCGGGCCACCCCCAAGAAGAGCGCCAAGAAGACCCCAAAGAAGGCGAAGAAGCCGGCTGCAGCTGCTGGAGCCAAAAAAGCGAAAAGCCCGAAAAAGGCGAAAGCAGCCAAGCCAAAAAAGGCGCCCAAGAGCCCAGCGAAGGCCAAAGCAGTTAAACCCAAGGCGGCTAAACCAAAGACCGCCAAGCCCAAGGCAGCCAAGCCAAAGAAGGCGGCAGCCAAGAAAAAGTAGAAAGTTCCTTTGGCCAACTGCTTAGAAGCCCAACACAACCCAAAGGCTCTTTTCAGAGCCACCCACCGCTCTCAGTAAAAGAGCTGTTGCACTATTAGGGGGCGTGGCTCGGGAAAACGCTGCTAAGCAGGGGCGGGTCTCCCGGGAACAAAGTCGGGGAGAGGAGTGGGATTTTGTGTGTCTCCGGAGCTATTTTTGACTAAGGCGTCGCGTCGCCCAAGCCGGAGTGCAGTGGCGTCATCTCGATTTTGCGTTCTCGAGTGTCGGAGTTGAACCCATTTGGGCCTCCCTTGTGCTTTGCACTTTTAGCAGGCCCTGGCCTCCAGATAGCATGGGAAAAAAAATGTTGGGATTTTCCCGGGTTTCTAAGCTGGGTTTTTCCGAGTTCCAAACACGGCACAGTGTATCAGTTTCTGTGCTGGTTACAAGCCTACTGGTTATCCCTATCGAGTATGGCAGGCAGTGAGGGACTTCAGAGGAGTACGTCTTAGGACAAGTGGCATAGTACTGACATTATTTCCGAAGGGCTACATTTCAAGTGCTTGGGGAGACTACTGCCACATAACTGAAAATTAGAAACCGACACTGCAGAAAAATACTTGGTCCTTAAATGTGGCATTTGGATGGATTAAGGACTTGCCGAAACGTAAAACTGACAGACTTGGGGGGGGGGGATGTCCCAATTAGCACGGCTTCTGTATGCAACGAGTCCCATACTTTGTTAAAGGAAGAAAGGAATGTGAGTTCTCCTAATCTGTTAAGTATCTTTCGGTGTAAGTTCTGACACCACAATGTTAAAAAAGTCGGATCTCAAAAACCAACTGCTCCAAGCGAAGTGCACAGCTGTCTTGCCTAAAGAGGCCTATTTATAGTAGCCTCGGGTAGTCTGGTCTGGGCTTTCTCATTGGGTACAAGTAAAGGAACGAAATAGCCAATGAAAAGGTAGACTTTTAAGTGTCGTTTACATTGGCATTTGTGACGACACTCTAAAATTAATCCAATCATAAACGAAATCTGATTAACCTCATTTGAATACCGCATCTATAAATGAACAGGGCCTCGGCGGGAGTGATTATTTTCTCAGGTGTTTGCAACAGTGTTCTAACTATTAACGCTACGATGCCTGAACCTACCAAGTCTGCTCCTGCCCCAAAGAAGGGCTCCAAGAAGGCGGTGACTAAGGCTCAGAAGAAGGACGGGAAGAAGCGCAAGCGCAGCCGCAAGGAGAGCTATTCAGTGTATGTGTACAAGGTGCTGAAGCAGGTCCATCCCGACACCGGCATCTCTTCCAAGGCAATGGGGATCATGAATTCCTTCGTCAACGACATCTTCGAGCGCATCGCAGGCGAGGCTTCCCGCCTGGCGCATTACAACAAGCGCTCGACCATCACCTCCAGGGAGATCCAGACGGCCGTGCGCCTGCTGCTTCCGGGGGAGCTGGCCAAGCACGCCGTGTCGGAGGGCACCAAGGCCGTCACCAAGTACACCAGTTCCAAGTAACTTTGCCAAGTAAGCATCTTTACACCTAATCCCAAAGGCTCTTTTAAGAGCCACGCATGTTTTCAATAAATGAGTTGTAATCATTTCATTCAAAAGGGGGGTTATTGGACTTAGCACCACAGTACCAATCTTTAATGTTACGTTAGTACTGCAGAGGAAATAACTTGGAAGTTACAGGGAATAACAATAGGTACTAGAAATTGAGTGCTATGGGTACGTATTAGATCGTTAGCTCATTTAGTATCACATAACACTAGCATAAACTGAAAGTATTGTAAATGTACAGCTCTTTGGTTTCCGTGTGCAGATTTCCAAGT | pathogenic | 106,193 |
Subsets and Splits
No community queries yet
The top public SQL queries from the community will appear here once available.