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 |
|---|---|---|---|---|---|
Does the genetic variant at chromosome 17, position 70174878, impacting gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGACAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGACAACCATAGGCTATGGTTTCAGATGTGTCACGGATGAATGCCCAATTGCTGTTTTCATGGTGGTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAGTCACAATGCCGTGATTGCCATGAGAGACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTTCTGAAGGGGAGTATATCCCTCTGGATCAAATAGACATCAATGTTGGGTTTGACAGTGGAATCGATCGTATATTTCTGGTGTCCCCAATCACTATAGTCCATGAAATAGATGAAGACAGTCCTTTATATGATTTGAGTAAACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCCTTACGGCGAGAGTCGGAGATATGACTGACTGATTCCTTCTCTGGAATAGTTACTTTACAACACGGTCTGTTGGTCAGAGGCCCAAAACAGTTATACAGATGACGGTACTGGTCAAGATGGGTCAAGCAAGCGGCCACAAGGGACTGAGGCAAGCACAATGGTTTCAAAGAAAGACTGTAAGCTCCATGATTAGCATAAAGCACTAACCATGTCTCCATGTGACCCGATGGCACATAGATGTTGTAGAATAAGTTATGGGTTTTTATGTTTTGTTTTGTGTTTTTCCAAAACTTGAACTTGCAGGCAAGCCTTGGTTGGGTATTTGATTTATCCAGAATGCTTCTCTTTAGGGAACAAGGATGTTTTTAATGGCATAACAAAGGCAAGACTCTGCCTTAATTTTTGAAAAGCTGCTAACTACATGAACACAAATGTGTATTTTTGTTGCAGTGTAGTTTTCCTTTTGTGTAATTTTAAAGTCAGTGTTGAATTTTATTGAAAGCTCATGATGCGCTTCAAAGTGGCAAGTATTTGGCTATTAACTGCCAAAACAAGAGCCTGATTTTTTGAGGCCAGTAATTCGTTTGCTAGAATTGATTTTTTTTCTCTCTCTCTTTGTTACATAA | GTTGCTGTCTCTGTCTGTTTAGTAATGTGAGAAAACTAAGATGAAATAATTGCTTAAAAAATGCTGTCCATGTACAGGATCTAGAACTTCGAGGGGCAGGATTCTTGTTTCTTTGGTCCAAGTGCAAACTTCACAGGGAAGCAGACAAAACATTGAAGCAGGTGGAAGGTTAGGAAAGCACAGTAACTTCTTTTTATAAAGTAATTCAAAGGCACTTTCAAACTGAGCATCATTTAGGTGTCAAAAGCTGCCAAAATGTAACACACATTGCAATTTTCAAAGATGACTAATCTCAGGAAAAATGTGTTGGGGCACATTCTTGCATAATAACTTGGATAAAGAAGAAGTCAAAAGACAGTAACAAGGCATTTTCAAAGGCAATGCACCTTGCCTCTTCTTAAGGGAATGCACAAAAACAACATAAATGGATTGCTTTATTTGTTTGCGGCTGGCTTGGCTGATATCGGTTCTATTAACTGTTTAATCTTAATGGATTTAGAGGAGAAGGAAAAAGTGGAGTCTTCATTATCAGGCATCAACAAATTTCTGACTCTTTTCATGAGTTATTCATTGCCCCCCTTTAATATAGCAGAAGGATTTGGTTGTATGAAAAGTTGAAGATGGGCTTTATTTTTCAGTTCTAACTCTTATTAGTTTTGTTATTACACATTTGGTAAAGAAAACACCTTAGACTTTCTCTTAGCTTTTTGTTAGTTAGTCAAGGGAAATAGTTTCTTAGGAGTGAAGATGGAAAGTTGAAGTACATAGATAGTTCTTAGCTAGGGAAGACTGAGGCAATAGGAGAAAACTGAGAACTACTATTTGCACATATTAAGTAAAGGTGAGTGCCTTCTCCATAGGAACCTATACCAAATAACAGCGCTGGAAGTGAAAGTAAGCGGACTGGCATTTATGATCTGTCCTTACACAGTTGTCTCTGTCTGAGAGAACACAGCACTGGACTCACATGAAATGAGTTCCTGCCTTATCTCAATCCGCTAAAGACCTGGTCCTTTGGCACAACGGTGCTTACTTCCTAGCCTGTCATTACACATGACAGCCCCATCTCAGGAGAATTTCAGGGCTCTTATTGCTAGGCAACAGAATTGCTCTCTATCCCCCAGAGCAAACCTGCATCTTCAGAGTCTTCAAGCCAGAATTACCTGTACTAATAGAGACTTAGCAGGCATTTCTGCATAGTGGTTGCTTAAAGTGTGAGAAGTGATGAAGCAAGCCCAAACAGTATCCAGAAACTGGGATCCATTTCAGATTATTATAAGCAATAGGGGCAGTATTCACCATCGTAGGAGGTTTTGTCCACTAGTTCCCTCTATTTTCAGGATACACACTCAGTCAAGCCTACTCCAAAATCCACTTCACTATTCTATTTGTAGGTGGGAATCTGACTTTCTTCCTCTAGCATTTCGTCAGCCTATCCGGTCTGCTCAGTTATATCATTTAAACAAAATAGTCTGTCTTCCGATTTCAACCTTGCCATCAGGGACTCTAATATTCTCCCGTAATGCACATGCAACTCAGTGGATATCAATGCTGCGTCCACGTGAAGTTTTCTAAACATGTCCTTTTTCCAAAAATTTTACGACAAACCTTGGAATCAGACAGTCTTTCATCTGCTTAACAGGGATCCTAGCAAGTGGGGCAGGCAGAAGAAGAGAATAAGAGAAGGGAGAGGTAGACCTGAACAATAGAATATTCTAGATCCCTGGCCAAAAAGAAGGGAAAGGGGACCTGACCTGACATTTTGGTTGAACAACTGTCACAGACAACTCTTCTATGTTTAACGACTTTATGCTTTTAAATAAAAGTTTTACAAAGCATGCTTAGGATACAAAGAAATTTAAAACCTTATAATTTAATGTAAATTATACTTATCTTTACCTGATTATGTGTTTTTGTTAGGATATATTGTCTTAGACAGTAGAATTCTTTAAGAGTGGCTTATTTTGTAATGCACAGTCTCTCTTTTCTTGCAGGACATGTTCTCTGGATGTCAGCTGAGTCATTAAAGTAACTCTGCATGTCAGTAGAGAGTAGTCAGACCTTGGTAGAACCACAAGGCTCCCAGAGACACCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGACAACCATAGGCTATGGTTTCAGATGTGTCACGGATGAATGCCCAATTGCTGTTTTCATGGTGGTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAGTCACAATGCCGTGATTGCCATGAGAGACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTTCTGAAGGGGAGTATATCCCTCTGGATCAAATAGACATCAATGTTGGGTTTGACAGTGGAATCGATCGTATATTTCTGGTGTCCCCAATCACTATAGTCCATGAAATAGATGAAGACAGTCCTTTATATGATTTGAGTAAACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCCTTACGGCGAGAGTCGGAGATATGACTGACTGATTCCTTCTCTGGAATAGTTACTTTACAACACGGTCTGTTGGTCAGAGGCCCAAAACAGTTATACAGATGACGGTACTGGTCAAGATGGGTCAAGCAAGCGGCCACAAGGGACTGAGGCAAGCACAATGGTTTCAAAGAAAGACTGTAAGCTCCATGATTAGCATAAAGCACTAACCATGTCTCCATGTGACCCGATGGCACATAGATGTTGTAGAATAAGTTATGGGTTTTTATGTTTTGTTTTGTGTTTTTCCAAAACTTGAACTTGCAGGCAAGCCTTGGTTGGGTATTTGATTTATCCAGAATGCTTCTCTTTAGGGAACAAGGATGTTTTTAATGGCATAACAAAGGCAAGACTCTGCCTTAATTTTTGAAAAGCTGCTAACTACATGAACACAAATGTGTATTTTTGTTGCAGTGTAGTTTTCCTTTTGTGTAATTTTAAAGTCAGTGTTGAATTTTATTGAAAGCTCATGATGCGCTTCAAAGTGGCAAGTATTTGGCTATTAACTGCCAAAACAAGAGCCTGATTTTTTGAGGCCAGTAATTCGTTTGCTAGAATTGATTTTTTTTCTCTCTCTCTTTGT | benign | 283,354 |
The mutation in gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2) at chromosome 17, position 70176962—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGACAACCATAGGCTATGGTTTCAGATGTGTCACGGATGAATGCCCAATTGCTGTTTTCATGGTGGTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAGTCACAATGCCGTGATTGCCATGAGAGACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTTCTGAAGGGGAGTATATCCCTCTGGATCAAATAGACATCAATGTTGGGTTTGACAGTGGAATCGATCGTATATTTCTGGTGTCCCCAATCACTATAGTCCATGAAATAGATGAAGACAGTCCTTTATATGATTTGAGTAAACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCCTTACGGCGAGAGTCGGAGATATGACTGACTGATTCCTTCTCTGGAATAGTTACTTTACAACACGGTCTGTTGGTCAGAGGCCCAAAACAGTTATACAGATGACGGTACTGGTCAAGATGGGTCAAGCAAGCGGCCACAAGGGACTGAGGCAAGCACAATGGTTTCAAAGAAAGACTGTAAGCTCCATGATTAGCATAAAGCACTAACCATGTCTCCATGTGACCCGATGGCACATAGATGTTGTAGAATAAGTTATGGGTTTTTATGTTTTGTTTTGTGTTTTTCCAAAACTTGAACTTGCAGGCAAGCCTTGGTTGGGTATTTGATTTATCCAGAATGCTTCTCTTTAGGGAACAAGGATGTTTTTAATGGCATAACAAAGGCAAGACTCTGCCTTAATTTTTGAAAAGCTGCTAACTACATGAACACAAATGTGTATTTTTGTTGCAGTGTAGTTTTCCTTTTGTGTAATTTTAAAGTCAGTGTTGAATTTTATTGAAAGCTCATGATGCGCTTCAAAGTGGCAAGTATTTGGCTATTAACTGCCAAAACAAGAGCCTGATTTTTTGAGGCCAGTAATTCGTTTGCTAGAATTGATTTTTTTTCTCTCTCTCTTTGTTACATAAGGGCATTATGTAACACTAGCCGAATGGTAGCCTCTGGGTTGTTGTTTTTTTCTTTTCCTCCATGATGTTAATGGGTTATCTCAAATTTTAAGTTAAACTACCTAAAATAAATACCAAAGATAATGCATATTTTTGCACAGTGGAGCTTACACTTAAAAGAAAACAAAGCCCCATGGGCTGCCTTGAAATCAAGAGACAATAACTTTGAACCTCAGCAAGACCTTGAACCGCCGGTTCATTTTGCACCTTATTCAGAAAATAGAGCATCATACTCACCGAGTCTAGTCAGTGTAGTGCTTTTAAAAATTTTGTCCTTTCATGTAACTTTTTTATTTTAAGAGGAAGAAGAAGAAAGGGGCACACACACACAATACCGACGTCTATCCTTTCCTGCTAGGCAGTGCTGGCCAGGCTCATGTGTAGTGTGCGAGATGGTGATGTACTCTTATATTTTTCTGGGCTTTTCCTTTTGCACATTCCAAAATTCATTTCATAAGACAAGATCTTCATAGGACCTCCTTGGCATCCTGGCATTCTCAAAACTGAGCCATCCAGCATGAAAGATAAATGGGTTTAAACCCTTGCTGCTGAATTTATTGCCTGGACTGTCAGGACATCACCAGCCCACCTTCACCTTAGGGAAGATGCCACACCTGGCCTCCACACTTGCTCTTCTGATCAGTCTGTCTGGATTGAGTCCTACAGTGTCAGATAGGGCGGCAAATGCCAAAGCAGGGAAACAGGGAGGTGTGGACAAGCCAGTTTGATGCAGCACTTCAGATCAAGTGCTTAGGAAGGAGAGGAAACTTGCCTTTTTTATGGCAGAGGATAGTAATGAAAATGTCTCAGTATTTTAGGGTCAATGAGAGCCATAAAAATATAACATAATCACAAGTAAAGGAGATAATGGTCTAAAACAGCTATTTCCCTTTTCTGTGTGCATACTTATGACTGAATGTGAGCTAAGCATTTTCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACACATTGTTTTCCAGAAGCCTCCCCTGCCTGGCTGACTGCCTTGCTAGAAACATAATTTTTTTTTTCTCACTGAAGCTCAATAATGGAACTCTTTTTTTTTTTTTTTTTAATTTAAAGTTCCCTATTTGTGAATTCTGGGATTACTGACTTTTCTTTTTAATTGGAGTCTCAAAATCAACTCTCTTATGGTATTATATCTCTGTATGCCATTAAAAAACAGCTTGTTCTAGAATCATGTATTTTGTAAACTGATGTTTGTGATGGTCTCTGGTTCTTGAACAGCCATATCTGAATGCCGTGCCTGCAAAACTATGACAATTTTTGCTGTTTTCAGCCTTCAGATTTGATGGCTTGGGAAACTGAGGTGTTATTTTCAATGAAACAAAGAAAGAGATGTTAAGCAAGTGGTTGTTTTAGATCCAAATGTAAAGGCAGGTTTGGGAAGGTGTTTAAAGAGTTGGAGGAATTGGGGATTGAGTTGTAAAGAAAACTTACAGAAGAGGCAACAATTTGGTTCTTGACAGTGAGAGGATATTGAGGGCTTCAGCTGCTGCTATTATGATGTTTTGCAAAGGAAAATAATCAAACCAAAGAGTATTCAGTGATATGTAAATTAAATGAAGATACAGTGGAGAATGGGGGTGACCACAAAAGAGGCTCCCCCTAAACACACAGTGCTGCCACTTAAAAAGACTTGAGAAATTTGAAAGGGGGTGGGTATGGGGGGGGCAAGAAAGAGGGAGGGAAATCTTTCAACTTATTTCTGAAAAAGAGAAAAAAATATAAAATTTCTGGTGCACAGGTTTGTTTTTTCAAGAAAATTTTGCAGAAGCTATGTTTTTAAAGTGTACATTTTATAAAGTTTATCAGATATTTTCATATTTAAAGCCAAATGTAAATAGAGGTCTGTAAAGAAAAATAATTGCCATAGAAAGTATAATTTCAGTGCAGTAATTTCTGAGAGCTAGTACCTATATGCTACCGGTTAGCATGGTTTTAGCAAATATATACCAGCCTTATAAGGTTCGTATTGCTATGTTCTTCTGTTATTTATTTCAGCATGGACTGTTCAT | CCCATCTCTCCTCATTTTTTTGGTGTGTGTGTCTTCACCGAACATTCAAAACTGTTTCTCCAAAGCGTTTTGCAAAAACTCAGACTGTTTTCCAAAGCAGAAGCACTGGAGTCCCCAGCAGAAGCGATGGGCAGTGTGCGAACCAACCGCTACAGCATCGTCTCTTCAGAAGAAGACGGTATGAAGTTGGCCACCATGGCAGTTGCAAATGGCTTTGGGAACGGGAAGAGTAAAGTCCACACCCGACAACAGTGCAGGAGCCGCTTTGTGAAGAAAGATGGCCACTGTAATGTTCAGTTCATCAATGTGGGTGAGAAGGGGCAACGGTACCTCGCAGACATCTTCACCACGTGTGTGGACATTCGCTGGCGGTGGATGCTGGTTATCTTCTGCCTGGCTTTCGTCCTGTCATGGCTGTTTTTTGGCTGTGTGTTTTGGTTGATAGCTCTGCTCCATGGGGACCTGGATGCATCCAAAGAGGGCAAAGCTTGTGTGTCCGAGGTCAACAGCTTCACGGCTGCCTTCCTCTTCTCCATTGAGACCCAGACAACCATAGGCTATGGTTTCAGATGTGTCACGGATGAATGCCCAATTGCTGTTTTCATGGTGGTGTTCCAGTCAATCGTGGGCTGCATCATCGATGCTTTCATCATTGGCGCAGTCATGGCCAAGATGGCAAAGCCAAAGAAGAGAAACGAGACTCTTGTCTTCAGTCACAATGCCGTGATTGCCATGAGAGACGGCAAGCTGTGTTTGATGTGGCGAGTGGGCAATCTTCGGAAAAGCCACTTGGTGGAAGCTCATGTTCGAGCACAGCTCCTCAAATCCAGAATTACTTCTGAAGGGGAGTATATCCCTCTGGATCAAATAGACATCAATGTTGGGTTTGACAGTGGAATCGATCGTATATTTCTGGTGTCCCCAATCACTATAGTCCATGAAATAGATGAAGACAGTCCTTTATATGATTTGAGTAAACAGGACATTGACAACGCAGACTTTGAAATCGTGGTCATACTGGAAGGCATGGTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCCTTACGGCGAGAGTCGGAGATATGACTGACTGATTCCTTCTCTGGAATAGTTACTTTACAACACGGTCTGTTGGTCAGAGGCCCAAAACAGTTATACAGATGACGGTACTGGTCAAGATGGGTCAAGCAAGCGGCCACAAGGGACTGAGGCAAGCACAATGGTTTCAAAGAAAGACTGTAAGCTCCATGATTAGCATAAAGCACTAACCATGTCTCCATGTGACCCGATGGCACATAGATGTTGTAGAATAAGTTATGGGTTTTTATGTTTTGTTTTGTGTTTTTCCAAAACTTGAACTTGCAGGCAAGCCTTGGTTGGGTATTTGATTTATCCAGAATGCTTCTCTTTAGGGAACAAGGATGTTTTTAATGGCATAACAAAGGCAAGACTCTGCCTTAATTTTTGAAAAGCTGCTAACTACATGAACACAAATGTGTATTTTTGTTGCAGTGTAGTTTTCCTTTTGTGTAATTTTAAAGTCAGTGTTGAATTTTATTGAAAGCTCATGATGCGCTTCAAAGTGGCAAGTATTTGGCTATTAACTGCCAAAACAAGAGCCTGATTTTTTGAGGCCAGTAATTCGTTTGCTAGAATTGATTTTTTTTCTCTCTCTCTTTGTTACATAAGGGCATTATGTAACACTAGCCGAATGGTAGCCTCTGGGTTGTTGTTGTTTTTTTCTTTTCCTCCATGATGTTAATGGGTTATCTCAAATTTTAAGTTAAACTACCTAAAATAAATACCAAAGATAATGCATATTTTTGCACAGTGGAGCTTACACTTAAAAGAAAACAAAGCCCCATGGGCTGCCTTGAAATCAAGAGACAATAACTTTGAACCTCAGCAAGACCTTGAACCGCCGGTTCATTTTGCACCTTATTCAGAAAATAGAGCATCATACTCACCGAGTCTAGTCAGTGTAGTGCTTTTAAAAATTTTGTCCTTTCATGTAACTTTTTTATTTTAAGAGGAAGAAGAAGAAAGGGGCACACACACACAATACCGACGTCTATCCTTTCCTGCTAGGCAGTGCTGGCCAGGCTCATGTGTAGTGTGCGAGATGGTGATGTACTCTTATATTTTTCTGGGCTTTTCCTTTTGCACATTCCAAAATTCATTTCATAAGACAAGATCTTCATAGGACCTCCTTGGCATCCTGGCATTCTCAAAACTGAGCCATCCAGCATGAAAGATAAATGGGTTTAAACCCTTGCTGCTGAATTTATTGCCTGGACTGTCAGGACATCACCAGCCCACCTTCACCTTAGGGAAGATGCCACACCTGGCCTCCACACTTGCTCTTCTGATCAGTCTGTCTGGATTGAGTCCTACAGTGTCAGATAGGGCGGCAAATGCCAAAGCAGGGAAACAGGGAGGTGTGGACAAGCCAGTTTGATGCAGCACTTCAGATCAAGTGCTTAGGAAGGAGAGGAAACTTGCCTTTTTTATGGCAGAGGATAGTAATGAAAATGTCTCAGTATTTTAGGGTCAATGAGAGCCATAAAAATATAACATAATCACAAGTAAAGGAGATAATGGTCTAAAACAGCTATTTCCCTTTTCTGTGTGCATACTTATGACTGAATGTGAGCTAAGCATTTTCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACACATTGTTTTCCAGAAGCCTCCCCTGCCTGGCTGACTGCCTTGCTAGAAACATAATTTTTTTTTTCTCACTGAAGCTCAATAATGGAACTCTTTTTTTTTTTTTTTTTAATTTAAAGTTCCCTATTTGTGAATTCTGGGATTACTGACTTTTCTTTTTAATTGGAGTCTCAAAATCAACTCTCTTATGGTATTATATCTCTGTATGCCATTAAAAAACAGCTTGTTCTAGAATCATGTATTTTGTAAACTGATGTTTGTGATGGTCTCTGGTTCTTGAACAGCCATATCTGAATGCCGTGCCTGCAAAACTATGACAATTTTTGCTGTTTTCAGCCTTCAGATTTGATGGCTTGGGAAACTGAGGTGTTATTTTCAATGAAACAAAGAAAGAGATGTTAAGCAAGTGGTTGTTTTAGATCCAAATGTAAAGGCAGGTTTGGGAAGGTGTTTAAAGAGTTGGAGGAATTGGGGATTGAGTTGTAAAGAAAACTTACAGAAGAGGCAACAATTTGGTTCTTGACAGTGAGAGGATATTGAGGGCTTCAGCTGCTGCTATTATGATGTTTTGCAAAGGAAAATAATCAAACCAAAGAGTATTCAGTGATATGTAAATTAAATGAAGATACAGTGGAGAATGGGGGTGACCACAAAAGAGGCTCCCCCTAAACACACAGTGCTGCCACTTAAAAAGACTTGAGAAATTTGAAAGGGGGTGGGTATGGGGGGGGCAAGAAAGAGGGAGGGAAATCTTTCAACTTATTTCTGAAAAAGAGAAAAAAATATAAAATTTCTGGTGCACAGGTTTGTTTTTTCAAGAAAATTTTGCAGAAGCTATGTTTTTAAAGTGTACATTTTATAAAGTTTATCAGATATTTTCATATTTAAAGCCAAATGTAAATAGAGGTCTGTAAAGAAAAATAATTGCCATAGAAAGTATAATTTCAGTGCAGTAATTTCTGAGAGCTAGTACCTATATGCTACCGGTTAGCATGGTTTTAGCAAATATATACCAGCCTTATAAGGTTCGTATTGCTATGTTCTTCTGTTATTTATTTCAGCATGGACTGTT | benign | 283,441 |
Clinical classification of chromosome 17, position 70177991, gene KCNJ2 (potassium inwardly rectifying channel subfamily J member 2): benign or pathogenic? Disease(s) if pathogenic? | benign | GTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCCTTACGGCGAGAGTCGGAGATATGACTGACTGATTCCTTCTCTGGAATAGTTACTTTACAACACGGTCTGTTGGTCAGAGGCCCAAAACAGTTATACAGATGACGGTACTGGTCAAGATGGGTCAAGCAAGCGGCCACAAGGGACTGAGGCAAGCACAATGGTTTCAAAGAAAGACTGTAAGCTCCATGATTAGCATAAAGCACTAACCATGTCTCCATGTGACCCGATGGCACATAGATGTTGTAGAATAAGTTATGGGTTTTTATGTTTTGTTTTGTGTTTTTCCAAAACTTGAACTTGCAGGCAAGCCTTGGTTGGGTATTTGATTTATCCAGAATGCTTCTCTTTAGGGAACAAGGATGTTTTTAATGGCATAACAAAGGCAAGACTCTGCCTTAATTTTTGAAAAGCTGCTAACTACATGAACACAAATGTGTATTTTTGTTGCAGTGTAGTTTTCCTTTTGTGTAATTTTAAAGTCAGTGTTGAATTTTATTGAAAGCTCATGATGCGCTTCAAAGTGGCAAGTATTTGGCTATTAACTGCCAAAACAAGAGCCTGATTTTTTGAGGCCAGTAATTCGTTTGCTAGAATTGATTTTTTTTCTCTCTCTCTTTGTTACATAAGGGCATTATGTAACACTAGCCGAATGGTAGCCTCTGGGTTGTTGTTTTTTTCTTTTCCTCCATGATGTTAATGGGTTATCTCAAATTTTAAGTTAAACTACCTAAAATAAATACCAAAGATAATGCATATTTTTGCACAGTGGAGCTTACACTTAAAAGAAAACAAAGCCCCATGGGCTGCCTTGAAATCAAGAGACAATAACTTTGAACCTCAGCAAGACCTTGAACCGCCGGTTCATTTTGCACCTTATTCAGAAAATAGAGCATCATACTCACCGAGTCTAGTCAGTGTAGTGCTTTTAAAAATTTTGTCCTTTCATGTAACTTTTTTATTTTAAGAGGAAGAAGAAGAAAGGGGCACACACACACAATACCGACGTCTATCCTTTCCTGCTAGGCAGTGCTGGCCAGGCTCATGTGTAGTGTGCGAGATGGTGATGTACTCTTATATTTTTCTGGGCTTTTCCTTTTGCACATTCCAAAATTCATTTCATAAGACAAGATCTTCATAGGACCTCCTTGGCATCCTGGCATTCTCAAAACTGAGCCATCCAGCATGAAAGATAAATGGGTTTAAACCCTTGCTGCTGAATTTATTGCCTGGACTGTCAGGACATCACCAGCCCACCTTCACCTTAGGGAAGATGCCACACCTGGCCTCCACACTTGCTCTTCTGATCAGTCTGTCTGGATTGAGTCCTACAGTGTCAGATAGGGCGGCAAATGCCAAAGCAGGGAAACAGGGAGGTGTGGACAAGCCAGTTTGATGCAGCACTTCAGATCAAGTGCTTAGGAAGGAGAGGAAACTTGCCTTTTTTATGGCAGAGGATAGTAATGAAAATGTCTCAGTATTTTAGGGTCAATGAGAGCCATAAAAATATAACATAATCACAAGTAAAGGAGATAATGGTCTAAAACAGCTATTTCCCTTTTCTGTGTGCATACTTATGACTGAATGTGAGCTAAGCATTTTCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACACATTGTTTTCCAGAAGCCTCCCCTGCCTGGCTGACTGCCTTGCTAGAAACATAATTTTTTTTTTCTCACTGAAGCTCAATAATGGAACTCTTTTTTTTTTTTTTTTTAATTTAAAGTTCCCTATTTGTGAATTCTGGGATTACTGACTTTTCTTTTTAATTGGAGTCTCAAAATCAACTCTCTTATGGTATTATATCTCTGTATGCCATTAAAAAACAGCTTGTTCTAGAATCATGTATTTTGTAAACTGATGTTTGTGATGGTCTCTGGTTCTTGAACAGCCATATCTGAATGCCGTGCCTGCAAAACTATGACAATTTTTGCTGTTTTCAGCCTTCAGATTTGATGGCTTGGGAAACTGAGGTGTTATTTTCAATGAAACAAAGAAAGAGATGTTAAGCAAGTGGTTGTTTTAGATCCAAATGTAAAGGCAGGTTTGGGAAGGTGTTTAAAGAGTTGGAGGAATTGGGGATTGAGTTGTAAAGAAAACTTACAGAAGAGGCAACAATTTGGTTCTTGACAGTGAGAGGATATTGAGGGCTTCAGCTGCTGCTATTATGATGTTTTGCAAAGGAAAATAATCAAACCAAAGAGTATTCAGTGATATGTAAATTAAATGAAGATACAGTGGAGAATGGGGGTGACCACAAAAGAGGCTCCCCCTAAACACACAGTGCTGCCACTTAAAAAGACTTGAGAAATTTGAAAGGGGGTGGGTATGGGGGGGGCAAGAAAGAGGGAGGGAAATCTTTCAACTTATTTCTGAAAAAGAGAAAAAAATATAAAATTTCTGGTGCACAGGTTTGTTTTTTCAAGAAAATTTTGCAGAAGCTATGTTTTTAAAGTGTACATTTTATAAAGTTTATCAGATATTTTCATATTTAAAGCCAAATGTAAATAGAGGTCTGTAAAGAAAAATAATTGCCATAGAAAGTATAATTTCAGTGCAGTAATTTCTGAGAGCTAGTACCTATATGCTACCGGTTAGCATGGTTTTAGCAAATATATACCAGCCTTATAAGGTTCGTATTGCTATGTTCTTCTGTTATTTATTTCAGCATGGACTGTTCATTTGAAACCTTTTTCTAGTTATTAGCGTTTTAACAGTTACAAGCTTTAAATGGCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTCAAGAGCCAAGACACAGGTAATGCACGACATTGATTGCTGCATTTTACCTTCAAAATATTTGTCCTTATTGACTGGGTCTCCTTAATTAATGTACACATGTCATTAGAATGCAGACGGAGGGGACTCACCATGAATATCTGGGGTTGATTCCCAGATGTGTGTTGCTTCTCTATTGCAAGCAGATTCCCTGTTGGATTTACTTCGGATTTATTCCCTTTTAAAGAATTTTTGCCCATATCTGGAAGGGCACTATATTTTTGGGAGGAGCCATAGATTCCTGGTTATCCTATTTTTAAACAAAATGTAGACAAAGTGAACTCTATTTTGATTATTGAGAAAGGAGTAGTTTTCTATCCCTCTAAGAGTATACTTGAATCAGACATTTTAAGGATGTCACTATGGCACTGTTGTCATTTCCAAATTCCTAGAAAAGTTTGTTTTACTTTGTTTTTATTCTGTTAATGCATTCTTTCTTCTCTTTACTTCCTTTCTTACCAGTACACTCCTATCTCAACTCTGTTTATTTGATGAGTTCTGTCCCGTAAATCATATTTCCCTTACAATTAATAAATGTCACTTCATATTTTATAATAAACCACTCAGTAAAAGCAAAAGCTTGTCCTGAGAAGTAGAGTGAGTTCTTTTTCACTCTGTGTCTAATAATGTTAAGGTGGGAAAAAAAAAAGTGTGGCATAGCTACCTGCCCATCCCCAACCCTCAGCAAAGTAGAATCTCTTTTCTGGTAATTTTGGGTTTCCGCTCTGGGCTCTGGCAAGTTGAACAATCCTAGCCATTGACAATCGTGATAGTTATTATTTTCCCATTTGCTGTCTTTTTGTATCTAAAGTCTTCCTATTGTACTGCACAAACCATGGATTGTACATATTTTTATATATTATGTCTTATTTTATTATTTCTAAATAAAAAAATTAAAAAT | GTGGAAGCCACTGCCATGACGACACAGTGCCGTAGCTCTTATCTAGCAAATGAAATCCTGTGGGGCCACCGCTATGAGCCTGTGCTCTTTGAAGAGAAGCACTACTACAAAGTGGACTATTCCAGGTTCCACAAAACTTACGAAGTCCCCAACACTCCCCTTTGTAGTGCCAGAGACTTAGCAGAAAAGAAATATATCCTCTCAAATGCAAATTCATTTTGCTATGAAAATGAAGTTGCCCTCACAAGCAAAGAGGAAGACGACAGTGAAAATGGAGTTCCAGAAAGCACTAGTACGGACACGCCCCCTGACATAGACCTTCACAACCAGGCAAGTGTACCTCTAGAGCCCAGGCCCTTACGGCGAGAGTCGGAGATATGACTGACTGATTCCTTCTCTGGAATAGTTACTTTACAACACGGTCTGTTGGTCAGAGGCCCAAAACAGTTATACAGATGACGGTACTGGTCAAGATGGGTCAAGCAAGCGGCCACAAGGGACTGAGGCAAGCACAATGGTTTCAAAGAAAGACTGTAAGCTCCATGATTAGCATAAAGCACTAACCATGTCTCCATGTGACCCGATGGCACATAGATGTTGTAGAATAAGTTATGGGTTTTTATGTTTTGTTTTGTGTTTTTCCAAAACTTGAACTTGCAGGCAAGCCTTGGTTGGGTATTTGATTTATCCAGAATGCTTCTCTTTAGGGAACAAGGATGTTTTTAATGGCATAACAAAGGCAAGACTCTGCCTTAATTTTTGAAAAGCTGCTAACTACATGAACACAAATGTGTATTTTTGTTGCAGTGTAGTTTTCCTTTTGTGTAATTTTAAAGTCAGTGTTGAATTTTATTGAAAGCTCATGATGCGCTTCAAAGTGGCAAGTATTTGGCTATTAACTGCCAAAACAAGAGCCTGATTTTTTGAGGCCAGTAATTCGTTTGCTAGAATTGATTTTTTTTCTCTCTCTCTTTGTTACATAAGGGCATTATGTAACACTAGCCGAATGGTAGCCTCTGGGTTGTTGTTTTTTTCTTTTCCTCCATGATGTTAATGGGTTATCTCAAATTTTAAGTTAAACTACCTAAAATAAATACCAAAGATAATGCATATTTTTGCACAGTGGAGCTTACACTTAAAAGAAAACAAAGCCCCATGGGCTGCCTTGAAATCAAGAGACAATAACTTTGAACCTCAGCAAGACCTTGAACCGCCGGTTCATTTTGCACCTTATTCAGAAAATAGAGCATCATACTCACCGAGTCTAGTCAGTGTAGTGCTTTTAAAAATTTTGTCCTTTCATGTAACTTTTTTATTTTAAGAGGAAGAAGAAGAAAGGGGCACACACACACAATACCGACGTCTATCCTTTCCTGCTAGGCAGTGCTGGCCAGGCTCATGTGTAGTGTGCGAGATGGTGATGTACTCTTATATTTTTCTGGGCTTTTCCTTTTGCACATTCCAAAATTCATTTCATAAGACAAGATCTTCATAGGACCTCCTTGGCATCCTGGCATTCTCAAAACTGAGCCATCCAGCATGAAAGATAAATGGGTTTAAACCCTTGCTGCTGAATTTATTGCCTGGACTGTCAGGACATCACCAGCCCACCTTCACCTTAGGGAAGATGCCACACCTGGCCTCCACACTTGCTCTTCTGATCAGTCTGTCTGGATTGAGTCCTACAGTGTCAGATAGGGCGGCAAATGCCAAAGCAGGGAAACAGGGAGGTGTGGACAAGCCAGTTTGATGCAGCACTTCAGATCAAGTGCTTAGGAAGGAGAGGAAACTTGCCTTTTTTATGGCAGAGGATAGTAATGAAAATGTCTCAGTATTTTAGGGTCAATGAGAGCCATAAAAATATAACATAATCACAAGTAAAGGAGATAATGGTCTAAAACAGCTATTTCCCTTTTCTGTGTGCATACTTATGACTGAATGTGAGCTAAGCATTTTCTCCTGTGGAGCCCTAGAGCAGGTTACTAAGGAAGGACACATTGTTTTCCAGAAGCCTCCCCTGCCTGGCTGACTGCCTTGCTAGAAACATAATTTTTTTTTTTCTCACTGAAGCTCAATAATGGAACTCTTTTTTTTTTTTTTTTTAATTTAAAGTTCCCTATTTGTGAATTCTGGGATTACTGACTTTTCTTTTTAATTGGAGTCTCAAAATCAACTCTCTTATGGTATTATATCTCTGTATGCCATTAAAAAACAGCTTGTTCTAGAATCATGTATTTTGTAAACTGATGTTTGTGATGGTCTCTGGTTCTTGAACAGCCATATCTGAATGCCGTGCCTGCAAAACTATGACAATTTTTGCTGTTTTCAGCCTTCAGATTTGATGGCTTGGGAAACTGAGGTGTTATTTTCAATGAAACAAAGAAAGAGATGTTAAGCAAGTGGTTGTTTTAGATCCAAATGTAAAGGCAGGTTTGGGAAGGTGTTTAAAGAGTTGGAGGAATTGGGGATTGAGTTGTAAAGAAAACTTACAGAAGAGGCAACAATTTGGTTCTTGACAGTGAGAGGATATTGAGGGCTTCAGCTGCTGCTATTATGATGTTTTGCAAAGGAAAATAATCAAACCAAAGAGTATTCAGTGATATGTAAATTAAATGAAGATACAGTGGAGAATGGGGGTGACCACAAAAGAGGCTCCCCCTAAACACACAGTGCTGCCACTTAAAAAGACTTGAGAAATTTGAAAGGGGGTGGGTATGGGGGGGGCAAGAAAGAGGGAGGGAAATCTTTCAACTTATTTCTGAAAAAGAGAAAAAAATATAAAATTTCTGGTGCACAGGTTTGTTTTTTCAAGAAAATTTTGCAGAAGCTATGTTTTTAAAGTGTACATTTTATAAAGTTTATCAGATATTTTCATATTTAAAGCCAAATGTAAATAGAGGTCTGTAAAGAAAAATAATTGCCATAGAAAGTATAATTTCAGTGCAGTAATTTCTGAGAGCTAGTACCTATATGCTACCGGTTAGCATGGTTTTAGCAAATATATACCAGCCTTATAAGGTTCGTATTGCTATGTTCTTCTGTTATTTATTTCAGCATGGACTGTTCATTTGAAACCTTTTTCTAGTTATTAGCGTTTTAACAGTTACAAGCTTTAAATGGCAATTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGTCAAGAGCCAAGACACAGGTAATGCACGACATTGATTGCTGCATTTTACCTTCAAAATATTTGTCCTTATTGACTGGGTCTCCTTAATTAATGTACACATGTCATTAGAATGCAGACGGAGGGGACTCACCATGAATATCTGGGGTTGATTCCCAGATGTGTGTTGCTTCTCTATTGCAAGCAGATTCCCTGTTGGATTTACTTCGGATTTATTCCCTTTTAAAGAATTTTTGCCCATATCTGGAAGGGCACTATATTTTTGGGAGGAGCCATAGATTCCTGGTTATCCTATTTTTAAACAAAATGTAGACAAAGTGAACTCTATTTTGATTATTGAGAAAGGAGTAGTTTTCTATCCCTCTAAGAGTATACTTGAATCAGACATTTTAAGGATGTCACTATGGCACTGTTGTCATTTCCAAATTCCTAGAAAAGTTTGTTTTACTTTGTTTTTATTCTGTTAATGCATTCTTTCTTCTCTTTACTTCCTTTCTTACCAGTACACTCCTATCTCAACTCTGTTTATTTGATGAGTTCTGTCCCGTAAATCATATTTCCCTTACAATTAATAAATGTCACTTCATATTTTATAATAAACCACTCAGTAAAAGCAAAAGCTTGTCCTGAGAAGTAGAGTGAGTTCTTTTTCACTCTGTGTCTAATAATGTTAAGGTGGGAAAAAAAAAAGTGTGGCATAGCTACCTGCCCATCCCCAACCCTCAGCAAAGTAGAATCTCTTTTCTGGTAATTTTGGGTTTCCGCTCTGGGCTCTGGCAAGTTGAACAATCCTAGCCATTGACAATCGTGATAGTTATTATTTTCCCATTTGCTGTCTTTTTGTATCTAAAGTCTTCCTATTGTACTGCACAAACCATGGATTGTACATATTTTTATATATTATGTCTTATTTTATTATTTCTAAATAAAAAAATTAAAAA | benign | 283,450 |
Evaluate if the mutation on chromosome 17 at position 72123909 in SOX9 (SRY-box transcription factor 9) is benign or pathogenic. Disease name(s) if pathogenic? | benign | GCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCCGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTATGATTCATTACCATTTTGAGGGGATTTATACATATTTTTAGATAAAATTAAATGCTCTTATTTTTCCAACAGCTAAACTACTCTTAGTTGAACAGTGTGCCCTAGCTTTTCTTGCAACCAGAGTATTTTTGTACAGATTTGCTTTCTCTTACAAAAAGAAAAAAAAAATCCTGTTGTATTAACATTTAAAAACAGAATTGTGTTATGTGATCAGTTTTGGGGGTTAACTTTGCTTAATTCCTCAGGCTTTGCGATTTAAGGAGGAGCTGCCTTAAAAAAAAATAAAGGCCTTATTTTGCAATTATGGGAGTAAACAATAGTCTAGAGAAGCATTTGGTAAGCTTTATCATATATATATTTTTTAAAGAAGAGAAAAACACCTTGAGCCTTAAAACGGTGCTGCTGGGAAACATTTGCACTCTTTTAGTGCATTTCCTCCTGCCTTTGCTTGTTCACTGCAGTCTTAAGAAAGAGGTAAAAGGCAAGCAAAGGAGATGAAATCTGTTCTGGGAATGTTTCAGCAGCCAATAAGTGCCCGAGCACACTGCCCCCGGTTGCCTGCCTGGGCCCCATGTGGAAGGCAGATGCCTGCTCGCTCTGTCACCTGTGCCTCTCAGAACACCAGCAGTTAACCTTCAAGACATTCCACTTGCTAAAATTATTTATTTTGTAAGGAGAGGTTTTAATTAAAACAAAAAAAAATTCTTTTTTTTTTTTTTTTCCAATTTTACCTTCTTTAAAATAGGTTGTTGGAGCTTTCCTCAAAGGGTATGGTCATCTGTTGTTAAATTATGTTCTTAACTGTAACCAGTTTTTTTTTATTTATCTCTTTAATCTTTTTTTATTATTAAAAGCAAGTTTCTTTGTATTCCTCACCCTAGATTTGTATAAATGCCTTTTTGTCCATCCCTTTTTTCTTTGTTGTTTTTGTTGAAAACAAACTGGAAACTTGTTTCTTTTTTTGTATAAATGAGAGATTGCAAATGTAGTGTATCACTGAGTCATTTGCAGTGTTTTCTGCCACAGACCTTTGGGCTGCCTTATATTGTGTGTGTGTGTGGGTGTGTGTGTGTTTTGACACAAAAACAATGCAAGCATGTGTCATCC | GCGGCGGCTGGGGGCGCTGGTCAGGGCTGATTTGCCCCGCCCCGCCTCCCATCGCCCGGGAGTTGCCGTTCCGGGAGCCGGCGGGATGGGGTTGGGAGTGGGAATGGGGTGTAACTGTGGCTCAGAGTTTGACAAAGTTCTTGGGCTGCTCGCGGGGACGCGGAGGAGGGGGGTGGTAAGTGGAAGAGGTGAGGGAGGTAGCTGGAGGATGGACGAAGACTGGTGGGAGACGGAAGGAGGGGGCTGCCAGCCTGCTCTCCAGTCGCCTGGAAGCTCAATCGGGGCGGGGAAGTGAAACTTGCCTCCCTCCTACCCGGCCTCTTAAAACTGCACTCTCTCGTGCAGCCCCACTGTCCACGGAGATGGGGCAAGGGAGAAACCGAGGTTGGAGGAGACCCTTGGCAGGAACTGGGAGGCGGGAGGAGGGAGGCTACTGGAAATAGGTGGGAGTGTATGGTGGGGGGTGAGAATTGGGGACCTTCTTGCAGCTTAAGTAATTTGGGGGAAAGTTTTCAAAGGGGGTTGGGGTTGGGGGCGGTAAGTCGAGCAGCAAAGGCGTTTAGGGGGCAGCACCGGGAGTCGTTTTCATCTCCAGCGTTTCCAAAATAGAAATAGAAGGGGAGGGGAGGGAGGGGGCGGGGAGTGACCGCTCAGGTCAGACTGCAATAACTTATTTATTTATTTATTTTTAAGAAAAGTTATGAGCTGTGGTTGCAGGCAGGAGGGAAGATGGAGTTGTGTGCAGAGGAAGCCGAGTGGTCTGGGTCGCCGCCTCCTCCCCGCCGACCTGACAGTTTGGCGGATTTCACTGACCCCTCTCCCTCTTTTTCTCTGTGCCCCCCGCCCCGCCCCGAGCAGACTTCTGAACGAGAGCGAGAAGCGGCCCTTCGTGGAGGAGGCGGAGCGGCTGCGCGTGCAGCACAAGAAGGACCACCCGGATTACAAGTACCAGCCGCGGCGGAGGAAGTCGGTGAAGAACGGGCAGGCGGAGGCAGAGGAGGCCACGGAGCAGACGCACATCTCCCCCAACGCCATCTTCAAGGCGCTGCAGGCCGACTCGCCACACTCCTCCTCCGGCATGAGCGAGGTGCACTCCCCCGGCGAGCACTCGGGTGAGTCGCCCCTCGACCCCACCGGACAAGCTATCTCCGTCCCGCCTGGCACACCCCCTGCCCTCCGCCTGGGAGATTCTTCGTGGGGACTTTATGCTTCCCGGGAGGGACACACTGCCCTTTGCGCCCGTCCCGCTCCCCTCTCTACCCAGAGCCTAAGAGGCATCCAAACAACACACACACAAACACACACACCCCAACTCAATCCCAGCATCCGAAGAGATTAACTTTTTTATTGGGAGGTAAAATGCCCTTAACAGCCTTACAAGACCTCTCCCTTCTTCTCTGCTCCCCCACCCCAAAAGCACACACAGGGCTCTTACACAAGTAGCAATTAGGTCTTCCGGACCCTCCGGGCCCCAGACCCTCCCCTGATAAAAGGGGGCTGTCCAGTGTGTACCGGCGGGTTAATCATTGGGCGACTTATCTCCGGTGCAGCGCGCCTCTTGCGCGGGTGCGGGCCCTTATTACACTTTAGCAGCGAGGGAGGGTCCCCGGAGGGTGCCTAAGACTAGGGCGTCTGCACAGCCCTTGTTGATTTTCTCGTGCTTGTTCTTTTATTGTCCACAGGGCAATCCCAGGGCCCACCGACCCCACCCACCACCCCCAAAACCGACGTGCAGCCGGGCAAGGCTGACCTGAAGCGAGAGGGGCGCCCCTTGCCAGAGGGGGGCAGACAGCCCCCTATCGACTTCCGCGACGTGGACATCGGCGAGCTGAGCAGCGACGTCATCTCCAACATCGAGACCTTCGATGTCAACGAGTTTGACCAGTACCTGCCGCCCAACGGCCACCCGGGGGTGCCGGCCACGCACGGCCAGGTCACCTACACGGGCAGCTACGGCATCAGCAGCACCGCGGCCACCCCGGCGAGCGCGGGCCACGTGTGGATGTCCAAGCAGCAGGCGCCGCCGCCACCCCCGCAGCAGCCCCCACAGGCCCCGCAGGCGCCCCCGCAGCCGCAGGCGGCGCCCCCACAGCAGCCGGCGGCACCCCCGCAGCAGCCACAGGCGCACACGCTGACCACGCTGAGCAGCGAGCCGGGCCAGTCCCAGCGAACGCACATCAAGACGGAGCAGCTGAGCCCCAGCCACTACAGCGAGCAGCAGCAGCACTCGCCCCAACAGATCGCCTACAGCCCCTTCAACCTCCCACACTACAGCCCCTCCTACCCGCCCATCACCCGCTCACAGTACGACTACACCGACCACCAGAACTCCAGCTCCTACTACAGCCACGCGGCAGGCCAGGGCACCGGCCTCTACTCCACCTTCACCTACATGAACCCCGCTCAGCGCCCCATGTACACCCCCATCGCCGACACCTCTGGGGTCCCTTCCATCCCGCAGACCCACAGCCCCCAGCACTGGGAACAACCCGTCTACACACAGCTCACTCGACCTTGAGGAGGCCTCCCACGAAGGGCGAAGATGGCCGAGATGATCCTAAAAATAACCGAAGAAAGAGAGGACCAACCAGAATTCCCTTTGGACATTTGTGTTTTTTTGTTTTTTTATTTTGTTTTGTTTTTTCTTCTTCTTCTTCTTCCTTAAAGACATTTAAGCTAAAGGCAACTCGTACCCAAATTTCCAAGACACAAACATGACCTATCCAAGCGCATTACCCACTTGTGGCCAATCAGTGGCCAGGCCAACCTTGGCTAAATGGAGCAGCGAAATCAACGAGAAACTGGACTTTTTAAACCCTCTTCAGAGCAAGCGTGGAGGATGATGGAGAATCGTGTGATCAGTGTGCTAAATCTCTCTGCCTGTTTGGACTTTGTAATTATTTTTTTAGCAGTAATTAAAGAAAAAAGTCCTCTGTGAGGAATATTCTCTATTTTAAATATTTTTAGTATGTACTGTGTATGATTCATTACCATTTTGAGGGGATTTATACATATTTTTAGATAAAATTAAATGCTCTTATTTTTCCAACAGCTAAACTACTCTTAGTTGAACAGTGTGCCCTAGCTTTTCTTGCAACCAGAGTATTTTTGTACAGATTTGCTTTCTCTTACAAAAAGAAAAAAAAAATCCTGTTGTATTAACATTTAAAAACAGAATTGTGTTATGTGATCAGTTTTGGGGGTTAACTTTGCTTAATTCCTCAGGCTTTGCGATTTAAGGAGGAGCTGCCTTAAAAAAAAATAAAGGCCTTATTTTGCAATTATGGGAGTAAACAATAGTCTAGAGAAGCATTTGGTAAGCTTTATCATATATATATTTTTTAAAGAAGAGAAAAACACCTTGAGCCTTAAAACGGTGCTGCTGGGAAACATTTGCACTCTTTTAGTGCATTTCCTCCTGCCTTTGCTTGTTCACTGCAGTCTTAAGAAAGAGGTAAAAGGCAAGCAAAGGAGATGAAATCTGTTCTGGGAATGTTTCAGCAGCCAATAAGTGCCCGAGCACACTGCCCCCGGTTGCCTGCCTGGGCCCCATGTGGAAGGCAGATGCCTGCTCGCTCTGTCACCTGTGCCTCTCAGAACACCAGCAGTTAACCTTCAAGACATTCCACTTGCTAAAATTATTTATTTTGTAAGGAGAGGTTTTAATTAAAACAAAAAAAAATTCTTTTTTTTTTTTTTTTCCAATTTTACCTTCTTTAAAATAGGTTGTTGGAGCTTTCCTCAAAGGGTATGGTCATCTGTTGTTAAATTATGTTCTTAACTGTAACCAGTTTTTTTTTATTTATCTCTTTAATCTTTTTTTATTATTAAAAGCAAGTTTCTTTGTATTCCTCACCCTAGATTTGTATAAATGCCTTTTTGTCCATCCCTTTTTTCTTTGTTGTTTTTGTTGAAAACAAACTGGAAACTTGTTTCTTTTTTTGTATAAATGAGAGATTGCAAATGTAGTGTATCACTGAGTCATTTGCAGTGTTTTCTGCCACAGACCTTTGGGCTGCCTTATATTGTGTGTGTGTGTGGGTGTGTGTGTGTTTTGACACAAAAACAATGCAAGCATGTGTCATCCNNNNNNNNN | benign | 283,486 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 73206747, gene COG1 (component of oligomeric golgi complex 1). What disease(s) is it linked to if pathogenic? | pathogenic; ['COG1_congenital_disorder_of_glycosylation'] | ACAAGGCATGCGCCAGCACACCTAATTTTTGTTATTTTTTGTAGAGACAGGTTTTGCGATTTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGCAAATCGCTTGTTTCGGCCTCCCAAAGTGCTGGGACTATGGGCAGGAGCCATCACGCCTGGCCAGTAACATTTTTTAGAAGGAACATGGTCAGGTGCGATGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGTACATCTGTAGTCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCCAGATTGTGTCACTGCACTCCAGCCTGGGCAACAAGGCGAGACTCTATCTCAAAACAAACAAACAAACAAACAAACAAAAACCCAAGAAGGAACAAATCCTGATTTTGGAAAGAATTCAGTAAGTCTTCTCTAATGAGCCTCCTCAAAACACTTCTCCTTCAGGCAAGGAGCCTTTTTTTCCCCTTTAGAACAACCATTTACAGCATCTGAGGCCTTTTTTAAGGGCCAGGTCTCTTCCCTGCTGTTAGGTTTTTAATTTTAAGGTCAAGTTTCTAACAAAATTTGTTTTGTTGTTGTGAGATTAAACTGGCCATATGAGCATTAAAACCATCTGCTTCTGAAATAGCAAGCTGAAACTCAACCAAAACTTGAAGCTGTTTATTACGCTCACATACCAAGTCCTCTCTCTTCATGGGTGGGGACTGGGAATTCATTTGCAGAAAGAAGGTGCATTTCCAGTCACCCAGAACCGGGCGCTGCAGCTGCTTTATGATCTGCGTTACCTCAACATTGTTCTGACAGCCAAGGGTGACGAGGTGAAGAGTGGCCGGAGCAAGCCAGACTCCAGGTGTCGTATCCTCTAGGGAGCTATGTCAAGGCGGTCTCTTCCAAAAGCAAATAGTCCCTTTGCTGGGAAGCCACCAGAGTCAGCCTGTTATACTGCACATTCATTGTGTTTGTTTTGAACAGTAAGTGCTCATATTGCCAGCAAGTTAAATAATGGCCGCCTGCTGGATAAATGCAATGGTCAAGTGAAATAGGTGGACTCTTATTCCCCTCTCTTCTGAGTCAGCCTAGCAGCTGCTGAGTATCATTTGAGCCCTTAGTGCCCTCCTTATAGACAGAACGGGGGAAAGGGTGGACTTCACTTAGACATCATGCTTGAGGGTGACTTAAGCACTATCATCAGTGACAAACGTACTAAGCCAGCAACTAAGTAGAATAAAACCCAACTCCAAGATTTCTACAGCAGTAGGATATCATAAGATTGTTTTTGATCCTAAAAAATGTGGACAGTAATGATCCTAATCCTTTTCTCAGAATTGAGAAAGTGACTGACCACCTGGAAGCCCTCATTGATCCATTTGACCTGGACGTTTTCACGCCACACCTCAACAGCAACCTTCATCGCCTGGTGCAGCGAACTTCTGTGAGTCAAATCAAAAACATGCTTAGTGCGAACGAAGCGATACAGGCTCAAATAACAAAATTAACCTGCTCAAGCACGTAATACTCCAGGATGCAGCATAGGGAGGGGAATAAGACACAAATAGCCGAGTGTAGTTATAAGGACTGAAAGAGGATTAGATAAAATCTCACACACTGAGGCAACCAAGATTTGGCCCCTTAAGTTGTAAATAAGGATTATTACAGTTTTATCCAGGCCTCAGAAAGAGGAATAAAAACTCCCTGCCTCTCAGATTCTGACCTGTGGGCAGTGATAAAAAGTAATCGTGAAGCATAAATGCACTCAGAACATTCCCCAAAATGACAGTTAGAAATACGGTAGCGATGGGTGACTAACCTTTTTTTTTTTTTTTTTGCCTTTCTTTTACCTGCACAATGAAACCTCTGCTCCACCTCTTGTCTGCCAGGTTCTGTTTGGATTGGTGACTGGTACAGAGAATCAGCTCGCCCCCCGGAGCAGTACGTTCAACTCCCAAGAACCCCATAACATCCTGCCACTGGCATCCAGTCAGATCAGGTAAAGGCTGCCAAGAGGCTTCTGCGGGGCACTTCGGGAGGCCAAGGTGGACGGATCACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAAAAATACAAAAAATTAGCTGGCCTGGTGGCAGGTGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATGAGGCTTCTGCTGGGCCCCAGAGCTGCCTGTTTGTGCTACTAAATTCTTTCCTCTTGTTTTGGAGGTTTGGACTTCTCCCACTGAGCATGACAAGCACTCGAAAGGCTAAATCAACCAGAAACATCGAAACAAAAGCTCAGGTTGGTGCCAAGAGCAAGAGGCTCATCCGTGGATGGGTCCCCACCTCCCACCGAGCCACCCATGATCAGCTCCCTTTTAAATAACTGATTAAGAACTGAATGACAAAATGCACTAATGCTGCTTTTAATGGCGGCGCAATAGAGAAGTACAAGGTTTTACTAGCTTGAGCTACTAGAAGGTGTAAAAGATGCCCGCTGACACTACCAAGTAGCCTCTTAATAGAAATGTAGAAAATATACAGGACAGGGTGGAGATGAGCTCTTGAATTTAGTAGGGTGAAAGAGTTAACTGCCAACCCGGCACTATCATTGTACTTGTTTGGAGAAAATCTGTTTTGTTCTGGTGATGATGGTTTTATCTTCCCTTTTAGTTGGGTGGGAAGTAACAGAAAATTTGTTTCCCCAAAAGTTTGACATTTTCTTGTTAATACACGTTTCATTTCAGTACGATGCCAACTGTTAAGCCTGCAGGAATCCTCCTGGGTATTTCTGAATTGTGCTGTGTGCATGTGTGTTTGAAAGCTCAAACAGCTTGTCTTCTTACAGCATCGAGTTGTTTGCTTTATTGTTAGACACAATATTAGCAGTGTATCCTTTCCGTATTCCCTACCATCGAACCCATTAAGATCTAAAATCCTTGTCAAGTATCTGGCTTTAAAAGTTGGGAGATGGTAGTTTAAAAAAAAAAAAAGCTCTTGCAAAAACCATCCAGTCCCTAAGCATGGGCTATGTTGCAGCCTCTTCCAGAACAGTTTCCACTGCAGTGATCTTTCAGTTCTGCCCACATTAGGTTAGCAGGCTGTGGAGAGAAGTGCCTGTGTCTACCCTTTTCCCAAGACAGTCCTCATTTCCAAATTCTAGTTTTGTCACAAAGGCTCATGCTGTTCCGTGTCCTCTTCAAATCTGGACCGACAGCAAAGTCCTCTGACTAGAGCCATCGTGCTTCTCAGCTCCGCTTGTGTGTGCCGTGTGGACTCCGAGTGGCGTCGCGCGGAGGGCGAGTGGGCAGGAGGGCTCAGGCCAACTCTAAGGCACTTTTCTCTACATCCAATGGCAGGTTGTCCCCCCGGCACGCTCCACAGCTGGTGACCCGACAGTTCCTGGCTCCTTGTTCAGACAGCTTGTCAGTGAAGAAGACAACACGTCTGCACCTTCATTATTCAAACTTGGCTGGCTCTCTAGTATGACTAAGTAACATGGCAACACATCTGTCTCTCCCTAAATAAATACTACCACATTATTTCTTCTAAAGGTGCCTCTGCTCATCTGATTCTCAGCCACACCAATCTTTCCAGTTTCACTGATGGAATGTGGCCCCCTAGTTACTGTTGGGGGTTACTTTAAGCATCAAGTTAATCCTTGTCCCAAAATTTCACAATACTTGTTGCTTTAGACATCAGTTCAGGTAGCTTACATTTTATCAGCGTTCAACAACACCTTAATTGTTGACACTACAAGGTGGAATTGTCAATGAGATCATGTAAGCTGCTGACTGACCAAGTTTGTAGGACAAAAAGTCATTACATATTACTTTACTT | ACAAGGCATGCGCCAGCACACCTAATTTTTGTTATTTTTTGTAGAGACAGGTTTTGCGATTTTGCCCAGGCTGGTCTCAAACTCCTGGGTTCAAGCAAATCGCTTGTTTCGGCCTCCCAAAGTGCTGGGACTATGGGCAGGAGCCATCACGCCTGGCCAGTAACATTTTTTAGAAGGAACATGGTCAGGTGCGATGGCTGACACCTGTAATCCCAGTACTTTGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGTACATCTGTAGTCCCAGCTACTCAGGAGGGTGAGGCAGGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCCAGATTGTGTCACTGCACTCCAGCCTGGGCAACAAGGCGAGACTCTATCTCAAAACAAACAAACAAACAAACAAACAAAAACCCAAGAAGGAACAAATCCTGATTTTGGAAAGAATTCAGTAAGTCTTCTCTAATGAGCCTCCTCAAAACACTTCTCCTTCAGGCAAGGAGCCTTTTTTTCCCCTTTAGAACAACCATTTACAGCATCTGAGGCCTTTTTTAAGGGCCAGGTCTCTTCCCTGCTGTTAGGTTTTTAATTTTAAGGTCAAGTTTCTAACAAAATTTGTTTTGTTGTTGTGAGATTAAACTGGCCATATGAGCATTAAAACCATCTGCTTCTGAAATAGCAAGCTGAAACTCAACCAAAACTTGAAGCTGTTTATTACGCTCACATACCAAGTCCTCTCTCTTCATGGGTGGGGACTGGGAATTCATTTGCAGAAAGAAGGTGCATTTCCAGTCACCCAGAACCGGGCGCTGCAGCTGCTTTATGATCTGCGTTACCTCAACATTGTTCTGACAGCCAAGGGTGACGAGGTGAAGAGTGGCCGGAGCAAGCCAGACTCCAGGTGTCGTATCCTCTAGGGAGCTATGTCAAGGCGGTCTCTTCCAAAAGCAAATAGTCCCTTTGCTGGGAAGCCACCAGAGTCAGCCTGTTATACTGCACATTCATTGTGTTTGTTTTGAACAGTAAGTGCTCATATTGCCAGCAAGTTAAATAATGGCCGCCTGCTGGATAAATGCAATGGTCAAGTGAAATAGGTGGACTCTTATTCCCCTCTCTTCTGAGTCAGCCTAGCAGCTGCTGAGTATCATTTGAGCCCTTAGTGCCCTCCTTATAGACAGAACGGGGGAAAGGGTGGACTTCACTTAGACATCATGCTTGAGGGTGACTTAAGCACTATCATCAGTGACAAACGTACTAAGCCAGCAACTAAGTAGAATAAAACCCAACTCCAAGATTTCTACAGCAGTAGGATATCATAAGATTGTTTTTGATCCTAAAAAATGTGGACAGTAATGATCCTAATCCTTTTCTCAGAATTGAGAAAGTGACTGACCACCTGGAAGCCCTCATTGATCCATTTGACCTGGACGTTTTCACGCCACACCTCAACAGCAACCTTCATCGCCTGGTGCAGCGAACTTCTGTGAGTCAAATCAAAAACATGCTTAGTGCGAACGAAGCGATACAGGCTCAAATAACAAAATTAACCTGCTCAAGCACGTAATACTCCAGGATGCAGCATAGGGAGGGGAATAAGACACAAATAGCCGAGTGTAGTTATAAGGACTGAAAGAGGATTAGATAAAATCTCACACACTGAGGCAACCAAGATTTGGCCCCTTAAGTTGTAAATAAGGATTATTACAGTTTTATCCAGGCCTCAGAAAGAGGAATAAAAACTCCCTGCCTCTCAGATTCTGACCTGTGGGCAGTGATAAAAAGTAATCGTGAAGCATAAATGCACTCAGAACATTCCCCAAAATGACAGTTAGAAATACGGTAGCGATGGGTGACTAACCTTTTTTTTTTTTTTTTTGCCTTTCTTTTACCTGCACAATGAAACCTCTGCTCCACCTCTTGTCTGCCAGGTTCTGTTTGGATTGGTGACTGGTACAGAGAATCAGCTCGCCCCCCCGGAGCAGTACGTTCAACTCCCAAGAACCCCATAACATCCTGCCACTGGCATCCAGTCAGATCAGGTAAAGGCTGCCAAGAGGCTTCTGCGGGGCACTTCGGGAGGCCAAGGTGGACGGATCACGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCTGTCTCTACTAAAAAAAATACAAAAAATTAGCTGGCCTGGTGGCAGGTGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAACGAGACTCTGTCTCAAAAAAAAAAAAAAAAAAAAAATGAGGCTTCTGCTGGGCCCCAGAGCTGCCTGTTTGTGCTACTAAATTCTTTCCTCTTGTTTTGGAGGTTTGGACTTCTCCCACTGAGCATGACAAGCACTCGAAAGGCTAAATCAACCAGAAACATCGAAACAAAAGCTCAGGTTGGTGCCAAGAGCAAGAGGCTCATCCGTGGATGGGTCCCCACCTCCCACCGAGCCACCCATGATCAGCTCCCTTTTAAATAACTGATTAAGAACTGAATGACAAAATGCACTAATGCTGCTTTTAATGGCGGCGCAATAGAGAAGTACAAGGTTTTACTAGCTTGAGCTACTAGAAGGTGTAAAAGATGCCCGCTGACACTACCAAGTAGCCTCTTAATAGAAATGTAGAAAATATACAGGACAGGGTGGAGATGAGCTCTTGAATTTAGTAGGGTGAAAGAGTTAACTGCCAACCCGGCACTATCATTGTACTTGTTTGGAGAAAATCTGTTTTGTTCTGGTGATGATGGTTTTATCTTCCCTTTTAGTTGGGTGGGAAGTAACAGAAAATTTGTTTCCCCAAAAGTTTGACATTTTCTTGTTAATACACGTTTCATTTCAGTACGATGCCAACTGTTAAGCCTGCAGGAATCCTCCTGGGTATTTCTGAATTGTGCTGTGTGCATGTGTGTTTGAAAGCTCAAACAGCTTGTCTTCTTACAGCATCGAGTTGTTTGCTTTATTGTTAGACACAATATTAGCAGTGTATCCTTTCCGTATTCCCTACCATCGAACCCATTAAGATCTAAAATCCTTGTCAAGTATCTGGCTTTAAAAGTTGGGAGATGGTAGTTTAAAAAAAAAAAAAGCTCTTGCAAAAACCATCCAGTCCCTAAGCATGGGCTATGTTGCAGCCTCTTCCAGAACAGTTTCCACTGCAGTGATCTTTCAGTTCTGCCCACATTAGGTTAGCAGGCTGTGGAGAGAAGTGCCTGTGTCTACCCTTTTCCCAAGACAGTCCTCATTTCCAAATTCTAGTTTTGTCACAAAGGCTCATGCTGTTCCGTGTCCTCTTCAAATCTGGACCGACAGCAAAGTCCTCTGACTAGAGCCATCGTGCTTCTCAGCTCCGCTTGTGTGTGCCGTGTGGACTCCGAGTGGCGTCGCGCGGAGGGCGAGTGGGCAGGAGGGCTCAGGCCAACTCTAAGGCACTTTTCTCTACATCCAATGGCAGGTTGTCCCCCCGGCACGCTCCACAGCTGGTGACCCGACAGTTCCTGGCTCCTTGTTCAGACAGCTTGTCAGTGAAGAAGACAACACGTCTGCACCTTCATTATTCAAACTTGGCTGGCTCTCTAGTATGACTAAGTAACATGGCAACACATCTGTCTCTCCCTAAATAAATACTACCACATTATTTCTTCTAAAGGTGCCTCTGCTCATCTGATTCTCAGCCACACCAATCTTTCCAGTTTCACTGATGGAATGTGGCCCCCTAGTTACTGTTGGGGGTTACTTTAAGCATCAAGTTAATCCTTGTCCCAAAATTTCACAATACTTGTTGCTTTAGACATCAGTTCAGGTAGCTTACATTTTATCAGCGTTCAACAACACCTTAATTGTTGACACTACAAGGTGGAATTGTCAATGAGATCATGTAAGCTGCTGACTGACCAAGTTTGTAGGACAAAAAGTCATTACATATTACTTTACT | pathogenic | 283,528 |
Chromosome 17, position 74285086, gene DNAI2 (dynein axonemal intermediate chain 2): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | CCTTTTCCAGACTTGTTTTGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCCAGTACTTTGGGAGACCAAGGTGGGAGGATGCTTGAGGCCACGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTTCATTTCTACACTTTTTTTTTTTAATTACCCAGTTGTGGTGGCTCGCACCTGTGGTCCCAGTTACTTGGGAGGTGGAGGCGGGCGGATTGCTTATGCCCTGGAGTTCACAGCAGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCTTGGGCAACAGAATGAGACCCTGTCTCTAAAAATAAATAACTAAATAACTAAATAAATAATTTTTAAAAAATAAAGTGAAAAGAAGGCAGAGGCGAGAGGATCACTTCCGCTCAGGAGTTTGACACCAGCCTGGGCAACATGGCGAAACACCGTCTCTACAGAAGAAAAACAAAAACAAAAATTAGCCACGTGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGTCTGAGGCTGGAGGATCCCTTCAGCCTGAGAAGTCAAAGCTGTACTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTCCAGAGGCTGAGGCCAGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCCATGATGGCGAGCACCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGACTCACTTGAATCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATTCCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCCTTTTCAAAAAAAAAAAAAAAAAGCTGTAGTGAGTCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAGACCCTCTCTTAAAAAAAAAAAAAAGGAAAGAAGGGAAAGTGGCGACACCCACGTGTAAAACTGTCCTCCCTGCTAGAGAGGATAGGCAAAGCAAATCCAAACTTGGAGTTTTAACGTTCAATTTTTGTGACACTGACATTGTCAGTGATAGGGTGGCATTGTTAATGATAGAGTGAAGAAAGGCTATTCACTTTTTCTTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGTAGTGCTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCGAGGACGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCAATTATTCACCTTTTCTTTGGATTCTCACAGAGCAGATGGACAGGCTTCTCTGGTCCATTAGAATTCAGATAAGGTCAGAACAGGATTTTCATGACCACAGCTACCAGTTGCAAAGCTGCTTAGCTCCACAGGGTTGCGCTGTTGCAGCTACCTGTGCCCACCTGATCACCAGGAATTTCCTTGCCTGCATTTGAAAATACTGTGGCTCCGGCCAGGGCGCCTCAGCATCCAGCCCTGGGAGCCCCCGTGGGACCTGGCTTGCAGAAGTGGCCGAGGGTTTGGGAGTATACCAGGGTGACGTCTTCCCTCCTGCGGCTCTCTGTTTAGGCCAACTCAGAGCGGTTTGAGATGGAGACCCGGGGAGTTAACCATGTCGAGGGGGGCTGGCCCAAGGACGTGAACCCCCTGGAGCTGGAGCAGACCATCCGTTTCCGGAAGAAAGTGGAGAAAGATGAGAACTACGTTAACGCCATCATGCAGCTCGGCTCTGTAAGGCTTCCTCCTGCCCCAGCTGCAAGAGCCCCATCCATCACTGCAGCTCCCCAAGGGATGCACTGCCCCAGCTGTGCCTGGCCATCGCTGTGAGGCTCGTGTGAATGCTGGGGGGAAGGGGACCAGCTGCTACCTCAAGGAGCCTTCTGTCTGGGAGCAGGCAGAGGTCCCAATCACAGACCAACAGGGAAGGCAGGGAGGTACAAGGGCTGACCAGGCATCAGGAGGAGTCTGACCTTGGGCAAAGGTGACTCCCAAAGTGCCCCACCCAGCAGCCAATAGGGATCATTCATTCATTTGACAAATTTGGACTGAACTTCAAGCCTCTGCCAGGCACAGTAGAGGTTGCAAAATGAATCTCATAATTGTTCTACATACTTGCCAGTGCAAAAAAAAAAAATTGTTTTAAGGAAAAAGAAATTTAAAATTTAAATTAAAAGAAAAAGAATCTCTTATACATCCTGTCCCAAAGAGATTGCAGTCCATTGGAGGTCAAAGACAAATACAGAGACATCACCAGATAACATAAAAAGAAAGAAATGCTGAAAGAGAAGCATGACTTGTCCTTTGACTCCATGAGGAGGGAGGGTCAATCTCCTGCTGAAGGGAACAGGGAAGGCTTCCTGGAAGAAGTGGCAGGGCTTGGTTGTCCTTTGGTGGACATTTGCAATAAAGGGGAGGGCATTCTGGATGGAGGAACCAGCTGTCTGCAAGGACAGGAAGAAGGAGATGAGTGCCATATACACACACACACATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGATTAATAATTTTATTTGGGCTGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCAGATCACTCGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTAGGAGGCCGAGGCAGGAGAATTGCTTGAACCCGAGAGACGGAAGCTGCAGTGAGTCCAGATCGCACCCCTGCACTCTAACCTGGGCAGCAGAGCAAGACTGTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATTTTGTTTGTCTAGCATGGTGTTCTTCAACCTTTTCTTCATTATTGGCCTTCATGTTTTTTCTAATGGCCTTCTGCCTCCATAAAATGTTTGTTGTTGTTGAGACAGAGTCTCATTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTTGGGTCTCTGCAATCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGCTGCCACCATGCCCAGCTAATTTTCTTTTGTATTTTTGGTAGAGATGGGGTTTTACTATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCATCAAATGTTAATGCTATAGACATACTGTATATCTGTTCATGCGCTGCATGTATTTCCATGCTTTGTACCTAAAAAGCAATATTATTTTACCCCCAGGAACCAATTGAAAATTCCTCCATTGAAAGCACATGGTTAGGTGGATGGGAAAAGCCCCTGGCTATGTCCTGTCCCTCCCAGACTCCATTGCAGGCCTGGGCAATCTGAAAGGACCTCCATTTACTGCGGAGAACTTCCAATGTGTCCCCCCTAGATCATGGAGCACTGCATCAAGCAGAACAATGCCATTGACATCTATGAAGAGTATTTCAATGACGAGGAGGCCATGGAAGTGATGGAGGAGGACCCTTCAGCTAAAACCATCAATGTGTTCAGGTAGCGCCATAGCCAGGCAGGTGTCTGGCCACCCT | CCTTTTCCAGACTTGTTTTGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCCAGTACTTTGGGAGACCAAGGTGGGAGGATGCTTGAGGCCACGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTTCATTTCTACACTTTTTTTTTTTAATTACCCAGTTGTGGTGGCTCGCACCTGTGGTCCCAGTTACTTGGGAGGTGGAGGCGGGCGGATTGCTTATGCCCTGGAGTTCACAGCAGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCTTGGGCAACAGAATGAGACCCTGTCTCTAAAAATAAATAACTAAATAACTAAATAAATAATTTTTAAAAAATAAAGTGAAAAGAAGGCAGAGGCGAGAGGATCACTTCCGCTCAGGAGTTTGACACCAGCCTGGGCAACATGGCGAAACACCGTCTCTACAGAAGAAAAACAAAAACAAAAATTAGCCACGTGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGTCTGAGGCTGGAGGATCCCTTCAGCCTGAGAAGTCAAAGCTGTACTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTCCAGAGGCTGAGGCCAGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCCATGATGGCGAGCACCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGACTCACTTGAATCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATTCCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCCTTTTCAAAAAAAAAAAAAAAAAGCTGTAGTGAGTCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAGACCCTCTCTTAAAAAAAAAAAAAAGGAAAGAAGGGAAAGTGGCGACACCCACGTGTAAAACTGTCCTCCCTGCTAGAGAGGATAGGCAAAGCAAATCCAAACTTGGAGTTTTAACGTTCAATTTTTGTGACACTGACATTGTCAGTGATAGGGTGGCATTGTTAATGATAGAGTGAAGAAAGGCTATTCACTTTTTCTTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGTAGTGCTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCGAGGACGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCAATTATTCACCTTTTCTTTGGATTCTCACAGAGCAGATGGACAGGCTTCTCTGGTCCATTAGAATTCAGATAAGGTCAGAACAGGATTTTCATGACCACAGCTACCAGTTGCAAAGCTGCTTAGCTCCACAGGGTTGCGCTGTTGCAGCTACCTGTGCCCACCTGATCACCAGGAATTTCCTTGCCTGCATTTGAAAATACTGTGGCTCCGGCCAGGGCGCCTCAGCATCCAGCCCTGGGAGCCCCCGTGGGACCTGGCTTGCAGAAGTGGCCGAGGGTTTGGGAGTATACCAGGGTGACGTCTTCCCTCCTGCGGCTCTCTGTTTAGGCCAACTCAGAGCGGTTTGAGATGGAGACCCGGGGAGTTAACCATGTCCGAGGGGGGCTGGCCCAAGGACGTGAACCCCCTGGAGCTGGAGCAGACCATCCGTTTCCGGAAGAAAGTGGAGAAAGATGAGAACTACGTTAACGCCATCATGCAGCTCGGCTCTGTAAGGCTTCCTCCTGCCCCAGCTGCAAGAGCCCCATCCATCACTGCAGCTCCCCAAGGGATGCACTGCCCCAGCTGTGCCTGGCCATCGCTGTGAGGCTCGTGTGAATGCTGGGGGGAAGGGGACCAGCTGCTACCTCAAGGAGCCTTCTGTCTGGGAGCAGGCAGAGGTCCCAATCACAGACCAACAGGGAAGGCAGGGAGGTACAAGGGCTGACCAGGCATCAGGAGGAGTCTGACCTTGGGCAAAGGTGACTCCCAAAGTGCCCCACCCAGCAGCCAATAGGGATCATTCATTCATTTGACAAATTTGGACTGAACTTCAAGCCTCTGCCAGGCACAGTAGAGGTTGCAAAATGAATCTCATAATTGTTCTACATACTTGCCAGTGCAAAAAAAAAAAATTGTTTTAAGGAAAAAGAAATTTAAAATTTAAATTAAAAGAAAAAGAATCTCTTATACATCCTGTCCCAAAGAGATTGCAGTCCATTGGAGGTCAAAGACAAATACAGAGACATCACCAGATAACATAAAAAGAAAGAAATGCTGAAAGAGAAGCATGACTTGTCCTTTGACTCCATGAGGAGGGAGGGTCAATCTCCTGCTGAAGGGAACAGGGAAGGCTTCCTGGAAGAAGTGGCAGGGCTTGGTTGTCCTTTGGTGGACATTTGCAATAAAGGGGAGGGCATTCTGGATGGAGGAACCAGCTGTCTGCAAGGACAGGAAGAAGGAGATGAGTGCCATATACACACACACACATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGATTAATAATTTTATTTGGGCTGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCAGATCACTCGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTAGGAGGCCGAGGCAGGAGAATTGCTTGAACCCGAGAGACGGAAGCTGCAGTGAGTCCAGATCGCACCCCTGCACTCTAACCTGGGCAGCAGAGCAAGACTGTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATTTTGTTTGTCTAGCATGGTGTTCTTCAACCTTTTCTTCATTATTGGCCTTCATGTTTTTTCTAATGGCCTTCTGCCTCCATAAAATGTTTGTTGTTGTTGAGACAGAGTCTCATTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTTGGGTCTCTGCAATCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGCTGCCACCATGCCCAGCTAATTTTCTTTTGTATTTTTGGTAGAGATGGGGTTTTACTATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCATCAAATGTTAATGCTATAGACATACTGTATATCTGTTCATGCGCTGCATGTATTTCCATGCTTTGTACCTAAAAAGCAATATTATTTTACCCCCAGGAACCAATTGAAAATTCCTCCATTGAAAGCACATGGTTAGGTGGATGGGAAAAGCCCCTGGCTATGTCCTGTCCCTCCCAGACTCCATTGCAGGCCTGGGCAATCTGAAAGGACCTCCATTTACTGCGGAGAACTTCCAATGTGTCCCCCCTAGATCATGGAGCACTGCATCAAGCAGAACAATGCCATTGACATCTATGAAGAGTATTTCAATGACGAGGAGGCCATGGAAGTGATGGAGGAGGACCCTTCAGCTAAAACCATCAATGTGTTCAGGTAGCGCCATAGCCAGGCAGGTGTCTGGCCACCC | pathogenic | 283,547 |
The mutation impacting DNAI2 (dynein axonemal intermediate chain 2) on chromosome 17 at position 74285104: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | TGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCCAGTACTTTGGGAGACCAAGGTGGGAGGATGCTTGAGGCCACGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTTCATTTCTACACTTTTTTTTTTTAATTACCCAGTTGTGGTGGCTCGCACCTGTGGTCCCAGTTACTTGGGAGGTGGAGGCGGGCGGATTGCTTATGCCCTGGAGTTCACAGCAGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCTTGGGCAACAGAATGAGACCCTGTCTCTAAAAATAAATAACTAAATAACTAAATAAATAATTTTTAAAAAATAAAGTGAAAAGAAGGCAGAGGCGAGAGGATCACTTCCGCTCAGGAGTTTGACACCAGCCTGGGCAACATGGCGAAACACCGTCTCTACAGAAGAAAAACAAAAACAAAAATTAGCCACGTGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGTCTGAGGCTGGAGGATCCCTTCAGCCTGAGAAGTCAAAGCTGTACTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTCCAGAGGCTGAGGCCAGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCCATGATGGCGAGCACCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGACTCACTTGAATCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATTCCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCCTTTTCAAAAAAAAAAAAAAAAAGCTGTAGTGAGTCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAGACCCTCTCTTAAAAAAAAAAAAAAGGAAAGAAGGGAAAGTGGCGACACCCACGTGTAAAACTGTCCTCCCTGCTAGAGAGGATAGGCAAAGCAAATCCAAACTTGGAGTTTTAACGTTCAATTTTTGTGACACTGACATTGTCAGTGATAGGGTGGCATTGTTAATGATAGAGTGAAGAAAGGCTATTCACTTTTTCTTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGTAGTGCTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCGAGGACGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCAATTATTCACCTTTTCTTTGGATTCTCACAGAGCAGATGGACAGGCTTCTCTGGTCCATTAGAATTCAGATAAGGTCAGAACAGGATTTTCATGACCACAGCTACCAGTTGCAAAGCTGCTTAGCTCCACAGGGTTGCGCTGTTGCAGCTACCTGTGCCCACCTGATCACCAGGAATTTCCTTGCCTGCATTTGAAAATACTGTGGCTCCGGCCAGGGCGCCTCAGCATCCAGCCCTGGGAGCCCCCGTGGGACCTGGCTTGCAGAAGTGGCCGAGGGTTTGGGAGTATACCAGGGTGACGTCTTCCCTCCTGCGGCTCTCTGTTTAGGCCAACTCAGAGCGGTTTGAGATGGAGACCCGGGGAGTTAACCATGTCGAGGGGGGCTGGCCCAAGGACGTGAACCCCCTGGAGCTGGAGCAGACCATCCGTTTCCGGAAGAAAGTGGAGAAAGATGAGAACTACGTTAACGCCATCATGCAGCTCGGCTCTGTAAGGCTTCCTCCTGCCCCAGCTGCAAGAGCCCCATCCATCACTGCAGCTCCCCAAGGGATGCACTGCCCCAGCTGTGCCTGGCCATCGCTGTGAGGCTCGTGTGAATGCTGGGGGGAAGGGGACCAGCTGCTACCTCAAGGAGCCTTCTGTCTGGGAGCAGGCAGAGGTCCCAATCACAGACCAACAGGGAAGGCAGGGAGGTACAAGGGCTGACCAGGCATCAGGAGGAGTCTGACCTTGGGCAAAGGTGACTCCCAAAGTGCCCCACCCAGCAGCCAATAGGGATCATTCATTCATTTGACAAATTTGGACTGAACTTCAAGCCTCTGCCAGGCACAGTAGAGGTTGCAAAATGAATCTCATAATTGTTCTACATACTTGCCAGTGCAAAAAAAAAAAATTGTTTTAAGGAAAAAGAAATTTAAAATTTAAATTAAAAGAAAAAGAATCTCTTATACATCCTGTCCCAAAGAGATTGCAGTCCATTGGAGGTCAAAGACAAATACAGAGACATCACCAGATAACATAAAAAGAAAGAAATGCTGAAAGAGAAGCATGACTTGTCCTTTGACTCCATGAGGAGGGAGGGTCAATCTCCTGCTGAAGGGAACAGGGAAGGCTTCCTGGAAGAAGTGGCAGGGCTTGGTTGTCCTTTGGTGGACATTTGCAATAAAGGGGAGGGCATTCTGGATGGAGGAACCAGCTGTCTGCAAGGACAGGAAGAAGGAGATGAGTGCCATATACACACACACACATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGATTAATAATTTTATTTGGGCTGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCAGATCACTCGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTAGGAGGCCGAGGCAGGAGAATTGCTTGAACCCGAGAGACGGAAGCTGCAGTGAGTCCAGATCGCACCCCTGCACTCTAACCTGGGCAGCAGAGCAAGACTGTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATTTTGTTTGTCTAGCATGGTGTTCTTCAACCTTTTCTTCATTATTGGCCTTCATGTTTTTTCTAATGGCCTTCTGCCTCCATAAAATGTTTGTTGTTGTTGAGACAGAGTCTCATTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTTGGGTCTCTGCAATCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGCTGCCACCATGCCCAGCTAATTTTCTTTTGTATTTTTGGTAGAGATGGGGTTTTACTATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCATCAAATGTTAATGCTATAGACATACTGTATATCTGTTCATGCGCTGCATGTATTTCCATGCTTTGTACCTAAAAAGCAATATTATTTTACCCCCAGGAACCAATTGAAAATTCCTCCATTGAAAGCACATGGTTAGGTGGATGGGAAAAGCCCCTGGCTATGTCCTGTCCCTCCCAGACTCCATTGCAGGCCTGGGCAATCTGAAAGGACCTCCATTTACTGCGGAGAACTTCCAATGTGTCCCCCCTAGATCATGGAGCACTGCATCAAGCAGAACAATGCCATTGACATCTATGAAGAGTATTTCAATGACGAGGAGGCCATGGAAGTGATGGAGGAGGACCCTTCAGCTAAAACCATCAATGTGTTCAGGTAGCGCCATAGCCAGGCAGGTGTCTGGCCACCCTCCGTCACCCCCATGCATG | TGTTTTGTTTTGTTTTGTTTTAACCTTTCCTATGGTGCTGATCCAGATTTTACCTTTTGTGAGAGCTGGCTTAAAAATGGAAAGGAGATGGGAGTGACTTCATGAGGATGGGGTTTCCATCCTGGGTGATGTAAGAGTTTTGGAACTAGGTGGGGTTGATGGTTGCACAGCACTGTGTATAATAACGCTGCTGCAGTGTACGCTTTAAAGTGGTTATGTGGTAAATTTTATGTTACATGTATTTTACCACAATTTCTTAAAAACAGGAAGGGCTGGGTGTGCTGGCTCAAGCCTGTAATCCCAGTACTTTGGGAGACCAAGGTGGGAGGATGCTTGAGGCCACGAGTTTGAGACCAGCCTGGGCAACATAGTGAGACTTCATTTCTACACTTTTTTTTTTTAATTACCCAGTTGTGGTGGCTCGCACCTGTGGTCCCAGTTACTTGGGAGGTGGAGGCGGGCGGATTGCTTATGCCCTGGAGTTCACAGCAGCAGTGAGCTGTGATTGCACCACTGCACTCCAGCTTGGGCAACAGAATGAGACCCTGTCTCTAAAAATAAATAACTAAATAACTAAATAAATAATTTTTAAAAAATAAAGTGAAAAGAAGGCAGAGGCGAGAGGATCACTTCCGCTCAGGAGTTTGACACCAGCCTGGGCAACATGGCGAAACACCGTCTCTACAGAAGAAAAACAAAAACAAAAATTAGCCACGTGTGGTGGTACATGCCTGTAGTCCCAGCTACTTGGGAGTCTGAGGCTGGAGGATCCCTTCAGCCTGAGAAGTCAAAGCTGTACTGGCCGGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTCCAGAGGCTGAGGCCAGTGGATCACCTGAGGTCAGGAGTTCAAAACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCGGCCATGATGGCGAGCACCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGACTCACTTGAATCCAGGAGGCGAAGGTTGCAGTGAGCCGAGATTCCGCCATTGCATTCCAGCCTGGGCAACAAGAGCGAAACTCCTTTTCAAAAAAAAAAAAAAAAAGCTGTAGTGAGTCAAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGAGACCCTCTCTTAAAAAAAAAAAAAAGGAAAGAAGGGAAAGTGGCGACACCCACGTGTAAAACTGTCCTCCCTGCTAGAGAGGATAGGCAAAGCAAATCCAAACTTGGAGTTTTAACGTTCAATTTTTGTGACACTGACATTGTCAGTGATAGGGTGGCATTGTTAATGATAGAGTGAAGAAAGGCTATTCACTTTTTCTTTTTTCTTTTTCTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGTAGTGCTGTGATCTCGGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACCACCACGCCCGGCTAATGTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCGAGGACGGTCTCGATCTCCTGACCTCGTGATCTGCTCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGCACCCGGCCAATTATTCACCTTTTCTTTGGATTCTCACAGAGCAGATGGACAGGCTTCTCTGGTCCATTAGAATTCAGATAAGGTCAGAACAGGATTTTCATGACCACAGCTACCAGTTGCAAAGCTGCTTAGCTCCACAGGGTTGCGCTGTTGCAGCTACCTGTGCCCACCTGATCACCAGGAATTTCCTTGCCTGCATTTGAAAATACTGTGGCTCCGGCCAGGGCGCCTCAGCATCCAGCCCTGGGAGCCCCCGTGGGACCTGGCTTGCAGAAGTGGCCGAGGGTTTGGGAGTATACCAGGGTGACGTCTTCCCTCCTGCGGCTCTCTGTTTAGGCCAACTCAGAGCGGTTTGAGATGGAGACCCGGGGAGTTAACCATGTCGAGGGGGGCTGGCCCAAGACGTGAACCCCCTGGAGCTGGAGCAGACCATCCGTTTCCGGAAGAAAGTGGAGAAAGATGAGAACTACGTTAACGCCATCATGCAGCTCGGCTCTGTAAGGCTTCCTCCTGCCCCAGCTGCAAGAGCCCCATCCATCACTGCAGCTCCCCAAGGGATGCACTGCCCCAGCTGTGCCTGGCCATCGCTGTGAGGCTCGTGTGAATGCTGGGGGGAAGGGGACCAGCTGCTACCTCAAGGAGCCTTCTGTCTGGGAGCAGGCAGAGGTCCCAATCACAGACCAACAGGGAAGGCAGGGAGGTACAAGGGCTGACCAGGCATCAGGAGGAGTCTGACCTTGGGCAAAGGTGACTCCCAAAGTGCCCCACCCAGCAGCCAATAGGGATCATTCATTCATTTGACAAATTTGGACTGAACTTCAAGCCTCTGCCAGGCACAGTAGAGGTTGCAAAATGAATCTCATAATTGTTCTACATACTTGCCAGTGCAAAAAAAAAAAATTGTTTTAAGGAAAAAGAAATTTAAAATTTAAATTAAAAGAAAAAGAATCTCTTATACATCCTGTCCCAAAGAGATTGCAGTCCATTGGAGGTCAAAGACAAATACAGAGACATCACCAGATAACATAAAAAGAAAGAAATGCTGAAAGAGAAGCATGACTTGTCCTTTGACTCCATGAGGAGGGAGGGTCAATCTCCTGCTGAAGGGAACAGGGAAGGCTTCCTGGAAGAAGTGGCAGGGCTTGGTTGTCCTTTGGTGGACATTTGCAATAAAGGGGAGGGCATTCTGGATGGAGGAACCAGCTGTCTGCAAGGACAGGAAGAAGGAGATGAGTGCCATATACACACACACACATATATATATATAGAGAGAGAGAGAGAGAGAGAGAGAGATTAATAATTTTATTTGGGCTGGGCTTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCAGAGGCAGGCAGATCACTCGAGCTCAGGAGTTTGAGACCAGCCTGGCCAACATAGCAAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTGTAGTCCCAGCTACTTAGGAGGCCGAGGCAGGAGAATTGCTTGAACCCGAGAGACGGAAGCTGCAGTGAGTCCAGATCGCACCCCTGCACTCTAACCTGGGCAGCAGAGCAAGACTGTGTCTCAAAATAATAATAATAATAATAATAATAATAATAATAATAATAATTTTGTTTGTCTAGCATGGTGTTCTTCAACCTTTTCTTCATTATTGGCCTTCATGTTTTTTCTAATGGCCTTCTGCCTCCATAAAATGTTTGTTGTTGTTGAGACAGAGTCTCATTCTGTCACCCAGGCTTGAGTGCAGTGGCGTGATCTTGGGTCTCTGCAATCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCGGCTGCCACCATGCCCAGCTAATTTTCTTTTGTATTTTTGGTAGAGATGGGGTTTTACTATGTTGGCCGGGCTGGTCTCAAACTCCTGACCTCAAGTGATCCACCCGCTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCCATCAAATGTTAATGCTATAGACATACTGTATATCTGTTCATGCGCTGCATGTATTTCCATGCTTTGTACCTAAAAAGCAATATTATTTTACCCCCAGGAACCAATTGAAAATTCCTCCATTGAAAGCACATGGTTAGGTGGATGGGAAAAGCCCCTGGCTATGTCCTGTCCCTCCCAGACTCCATTGCAGGCCTGGGCAATCTGAAAGGACCTCCATTTACTGCGGAGAACTTCCAATGTGTCCCCCCTAGATCATGGAGCACTGCATCAAGCAGAACAATGCCATTGACATCTATGAAGAGTATTTCAATGACGAGGAGGCCATGGAAGTGATGGAGGAGGACCCTTCAGCTAAAACCATCAATGTGTTCAGGTAGCGCCATAGCCAGGCAGGTGTCTGGCCACCCTCCGTCACCCCCATGCATGN | pathogenic | 283,549 |
Is the genetic variant on chromosome 17, position 74305349, gene DNAI2 (dynein axonemal intermediate chain 2), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Primary_ciliary_dyskinesia'] | ACGATGGGCCACTCAGATCTGGGTGGCCTTTCTCTCTGGCTCACTGACGGGCGGCGTGCAGTCGGCTTGAATACTTTCTTCTCTGGACCTCTCAAGCTTGGTCTTTCCACTTGCCCTTGACGCCCAACTTGAAGCCCAGGTTTTTGTTTTGTTTTGTTGAGACATCGTTTTGCTCTGTTGCCCATGCTGGAGTGCAGTTGTGTAATCTCAGCTTACTGCAACATCCACCTCCTGGGCTCAAGCCTCAGCCTCTTGAGCAGCTGGGACCACAGGCACATGCCACCAAGCCAGGCTGATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAACCACCACACCTGGCCATGTTCTGGGTATTTTCTAGAGATTTTATATTTATCATTTTAGTAATTTTCTGGTAGAAGAAAACTGCATAATAAAACAATATGTTTTTTAAAAAAATAAAAATAAAAAAGCTGGGGGGCCAGGTGCAGTGGCTCAGGTCTGTAATCCCAGCACTTTGGGAAGCCGATGTGTGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGTCTGGACAACATAGGGAGACTCCATCTCTACAAAAATACAAAAATTAGCTGACCCTGGTGGTGTGTGCTTGTGGTCCCTACGTGGGAGGCTGAGGTGGGAGTACTGCTTGAGCCCAGAAGGTCAAGGATGCAGTGAGCTGAGATCGCACTGCTGCACTCCAGCCTGGGCAATGGAGCCAGAACCTGTCTCGAGAAATAAATAAATAAACTAGGAGTTCTTTTTTCTTTTCTTTTCTTTTTTCTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGTAGGGCCTTGCTCTGTAGGCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTAAAACCTGGGAGTTCTATAGGGGCAGGTTCACCAGCTGCAGAGGACATCTGAGCCCGTTGACAAAGGCCCTCCCCTCAGTGTGCCCCTCCCCTACCTCACTCAGCTGTTCTTTCCATTTGGAATGCTGAGGACACAGCACCATTGTAGGCTCAGGCCCTGCTGGTGGAGGTTGTTCAGTCTAGCCCAGAAGTTAAGACAGAACAGTAAACAAGGAAGGGCATTGCGTGATGGAGGGGGTCATGCTCAGAGACGCGAGGGGAGCACTGGACCAGGAGTCAGGAGACCAGCCTTTGTGCATTCAGTCCGCAGTGAAGTGAATAACTACTAAAGCTCAGTTCGTGGGCGATGGACCCATGTCAGACAAGCTCGTGCCCCTCAAAGAGCTCACCCACCAGTGGTAGGGGGACGAGTTACATCACCGACTGCCAGGTAACTTCCTGAGTGCTGGTTGGTCACCTGCTCTGAGTTCTCAGGGACACCAGCCTGGACAATGCTATGACAAATGTCACTGTCTTGCCAGGGAAGGCTCTGCCCATCCCATGAGTGATCTGGGTGGGCCACCCTGCATCCCCTCCCTGGGTCTTCTTTACTCTCTCTGTAAACAAACATTCAGGATCTTTATGGCCAAATGCATCGAGGACACAGTGGTGCTCTGCAGAGGGGGCTAGTGACCTGACAACCCTCCAGGACTGGAGGAGCCAGGGAGGGCTTCATTCAGCACAGGCTCCTTGAGCAGCTTCCAAAAAGATGGGGTCTGAGGAGCCCGGGAAGAGTGGGGACTGCTCTCCAGGAGGGGCCACAGCCCTTGCCAAGGCTTGATCTGAGGGCCTTTCTAGCGCCTGCAGACCCCCCAAGCAAGCTCCTGTCCATGCCCGCTAATCCCAGAATTGATGGTTCGTGGAGTCTTCCCCTCCTGTGTCACTCCTTCCACAGCCCACCAAGTTCATGGTGGGGACCGAGCAGGGCATCGTCATCTCCTGCAACCGCAAGGCCAAGACGTCAGCTGAAAAGATTGTGTGCACCTTCCCGGGCCATCATGGCCCCATCTACGCCCTCCAGAGAAACCCCTTCTACCCGAAGAACTTCCTGACGGTTGGCGACTGGACAGCCCGCATTTGGTCTGAAGACAGCCGGGAATCGTCCATCATGTGGACCAAGTAAGAGGCGATGCTGGGGACAGGAGGGGATGCAGGAGACAGGAGGGGATGGAGGGAGCCCAGCTGGGCCCCGGAGAGTCCCGAGCCTCCATATGTAAAATGGAGAAAAACCTTTCCACAAACACCCGAGCTCGTGTTAGCAAGTGACTTGCTCCAGCCACTCCACAAAGTGATAAGCTTCAAACACTCAGTTACTAAAAATAATGGCCATGGCTTAATTTTATTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTAGTTCCCCAGACTGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGAGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAAGCACCTGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGCGTCTGGCTGGCTTAATTTTCATAATCCTCAAACTATCCCCAGGAGGAGGCAGCATTGCTCTTCTCTTCATCTCATTTTTCATGTTAGGGAACTGGGCTACAGAAAGGCCAAGCCACTTGCTCCTGCTCTCCCAGCTAGTGAGGAGCCGAGATTGGGTGTGAACCAAGGAAGCTTGGCTGGGAAATGCGGGTGCCTTGGCACAATTCAGCAGTGAGGCATAGCCTGTCTTGCTCAGTGCCACTCCTCTGAGGAGAGCAACAGACAGGGAGCTTGAGACAGAGCTATGAGCACAATGGTTAGACCAGAGAAGCTTAGACTATCACATCCCCCTCCATTCTTCTTAGGGCCCATTTACCTTGTCTAAAAGTGCCCTTTCTCCTCCTCCCCTTCATCTCCTAAATTAGGTAATAAGCCCGAATTCTAACCACCCCCTTGAGTCATTCACCACCGAGCACTGCCATGTGTATTGTGCATTGCATGTATAAATAATTACTTTTTTCTCTTGCTAAAAAAAACATCCTGGGGTTCCTTTCCTGCCCACAGAACCACAGACTCCTGCAACGTCAAAGCCACCAGCAACCCTAATGAGCATCTTTGGTTCCAGTGCTTCCCAAATCTGGTTGCATCAGAATATCTTGGGAGGAGTTTTTGTTTGTTTGTTAAAATGCTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGAAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCACCTCCCGAGTTCATGCGATTCTCCTGCCTTATCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTATAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCGCCTGCCTCAGCCTCCCGAAGGGCTGGGATTACAGGCATGAGCCACCGTGCCTGGTGGAGGAGTGATTTTTTTAAAATCCAGATTCTCAGCCCCAACCCTGGGGGTACTAACATAGAATCTTGGGCTTAGCCCAGGAATGGGTTTGCTAAGGAGCAACCCCAGGCTTGTGACTCAGCCAGTCCTTGCTTTGGGAGCAGAAACCTGGTTCGATGTCCTCATTCTACAGGGGTGGGAACGCTGGCTGACAAGGGCAGTGCATTGTTCCAGGCCTCATAGCAAGTAGGGGGTTCCCAGTAGATGTGAAGCCCTTTACAGGCTTTAGGAGCCTTCCCAATGTCTTCAGGTCCTGCAGGCTGCCAGGGCTGTGTGAAAGGAGCAGGGTGTCGAGCACAGCACCCATAGGCCTTTCGCAGGGCTGGTTCCTAGAGGGACTTGGTGGACCTGTGTCGTAGAACCTGGGTCTCCCTTGTCCTCCTCCTGCATAAGGTTAAACAAATTTAGCAAATAAGAATATTTGACCCTGGGCCAGGTGCAG | ACGATGGGCCACTCAGATCTGGGTGGCCTTTCTCTCTGGCTCACTGACGGGCGGCGTGCAGTCGGCTTGAATACTTTCTTCTCTGGACCTCTCAAGCTTGGTCTTTCCACTTGCCCTTGACGCCCAACTTGAAGCCCAGGTTTTTGTTTTGTTTTGTTGAGACATCGTTTTGCTCTGTTGCCCATGCTGGAGTGCAGTTGTGTAATCTCAGCTTACTGCAACATCCACCTCCTGGGCTCAAGCCTCAGCCTCTTGAGCAGCTGGGACCACAGGCACATGCCACCAAGCCAGGCTGATTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTTGCCCAGGCTGGAGTGCAGTGACATGATCTTGGCTCGCTGCAACCTCTGCCTCCCAGGTTCAAGTGATTCTCGTGCCTCAACCACCACACCTGGCCATGTTCTGGGTATTTTCTAGAGATTTTATATTTATCATTTTAGTAATTTTCTGGTAGAAGAAAACTGCATAATAAAACAATATGTTTTTTAAAAAAATAAAAATAAAAAAGCTGGGGGGCCAGGTGCAGTGGCTCAGGTCTGTAATCCCAGCACTTTGGGAAGCCGATGTGTGCAGATCACTTGAGCTTAGGAGTTTGAGACCAGTCTGGACAACATAGGGAGACTCCATCTCTACAAAAATACAAAAATTAGCTGACCCTGGTGGTGTGTGCTTGTGGTCCCTACGTGGGAGGCTGAGGTGGGAGTACTGCTTGAGCCCAGAAGGTCAAGGATGCAGTGAGCTGAGATCGCACTGCTGCACTCCAGCCTGGGCAATGGAGCCAGAACCTGTCTCGAGAAATAAATAAATAAACTAGGAGTTCTTTTTTCTTTTCTTTTCTTTTTTCTTTTTCTTTTTTCTTTTTTTTTTTTTTTTTTTTTTTTTTGAGGTAGGGCCTTGCTCTGTAGGCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCTGCCTAAAACCTGGGAGTTCTATAGGGGCAGGTTCACCAGCTGCAGAGGACATCTGAGCCCGTTGACAAAGGCCCTCCCCTCAGTGTGCCCCTCCCCTACCTCACTCAGCTGTTCTTTCCATTTGGAATGCTGAGGACACAGCACCATTGTAGGCTCAGGCCCTGCTGGTGGAGGTTGTTCAGTCTAGCCCAGAAGTTAAGACAGAACAGTAAACAAGGAAGGGCATTGCGTGATGGAGGGGGTCATGCTCAGAGACGCGAGGGGAGCACTGGACCAGGAGTCAGGAGACCAGCCTTTGTGCATTCAGTCCGCAGTGAAGTGAATAACTACTAAAGCTCAGTTCGTGGGCGATGGACCCATGTCAGACAAGCTCGTGCCCCTCAAAGAGCTCACCCACCAGTGGTAGGGGGACGAGTTACATCACCGACTGCCAGGTAACTTCCTGAGTGCTGGTTGGTCACCTGCTCTGAGTTCTCAGGGACACCAGCCTGGACAATGCTATGACAAATGTCACTGTCTTGCCAGGGAAGGCTCTGCCCATCCCATGAGTGATCTGGGTGGGCCACCCTGCATCCCCTCCCTGGGTCTTCTTTACTCTCTCTGTAAACAAACATTCAGGATCTTTATGGCCAAATGCATCGAGGACACAGTGGTGCTCTGCAGAGGGGGCTAGTGACCTGACAACCCTCCAGGACTGGAGGAGCCAGGGAGGGCTTCATTCAGCACAGGCTCCTTGAGCAGCTTCCAAAAAGATGGGGTCTGAGGAGCCCGGGAAGAGTGGGGACTGCTCTCCAGGAGGGGCCACAGCCCTTGCCAAGGCTTGATCTGAGGGCCTTTCTAGCGCCTGCAGACCCCCCAAGCAAGCTCCTGTCCATGCCCGCTAATCCCAGAATTGATGGTTCGTGGAGTCTTCCCCTCCTGTGTCACTCCTTCCACAGCCCACCAAGTTCATGGTGGGGACCGAGCAGGGCATCGTCATCTCCTGCAACCGCAAGGCCAAGACGTCAGCTGAAAAGATTGTGTGCACCTTCCCGGGCCATCATGGCCCCATCTACGCCCTCCAGAGAAACCCTTCTACCCGAAGAACTTCCTGACGGTTGGCGACTGGACAGCCCGCATTTGGTCTGAAGACAGCCGGGAATCGTCCATCATGTGGACCAAGTAAGAGGCGATGCTGGGGACAGGAGGGGATGCAGGAGACAGGAGGGGATGGAGGGAGCCCAGCTGGGCCCCGGAGAGTCCCGAGCCTCCATATGTAAAATGGAGAAAAACCTTTCCACAAACACCCGAGCTCGTGTTAGCAAGTGACTTGCTCCAGCCACTCCACAAAGTGATAAGCTTCAAACACTCAGTTACTAAAAATAATGGCCATGGCTTAATTTTATTTCCTTTTTTTTTTTTTTTTTTTTTTGAGACAGTCTCGCTTAGTTCCCCAGACTGAGTGCAGTGGCGTGATCTCGGCTCACTGCAGCCTCCACCTCCCAGGTTCAAGAGACTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAAGCACCTGCCACCATGCCCAACTAATTTTTGTATTTTTAGTAGAGATGGGATTTTGCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGCGTTGGGATTACAGGTGTGAGCCACCGCGTCTGGCTGGCTTAATTTTCATAATCCTCAAACTATCCCCAGGAGGAGGCAGCATTGCTCTTCTCTTCATCTCATTTTTCATGTTAGGGAACTGGGCTACAGAAAGGCCAAGCCACTTGCTCCTGCTCTCCCAGCTAGTGAGGAGCCGAGATTGGGTGTGAACCAAGGAAGCTTGGCTGGGAAATGCGGGTGCCTTGGCACAATTCAGCAGTGAGGCATAGCCTGTCTTGCTCAGTGCCACTCCTCTGAGGAGAGCAACAGACAGGGAGCTTGAGACAGAGCTATGAGCACAATGGTTAGACCAGAGAAGCTTAGACTATCACATCCCCCTCCATTCTTCTTAGGGCCCATTTACCTTGTCTAAAAGTGCCCTTTCTCCTCCTCCCCTTCATCTCCTAAATTAGGTAATAAGCCCGAATTCTAACCACCCCCTTGAGTCATTCACCACCGAGCACTGCCATGTGTATTGTGCATTGCATGTATAAATAATTACTTTTTTCTCTTGCTAAAAAAAACATCCTGGGGTTCCTTTCCTGCCCACAGAACCACAGACTCCTGCAACGTCAAAGCCACCAGCAACCCTAATGAGCATCTTTGGTTCCAGTGCTTCCCAAATCTGGTTGCATCAGAATATCTTGGGAGGAGTTTTTGTTTGTTTGTTAAAATGCTTTTGAGATGGAGTCTTACTCTGTCACCCAGGCTGAAGTGCAATGGCGAGATCTCGGCTCACTGCAACCTCCACCTCCCGAGTTCATGCGATTCTCCTGCCTTATCCTCCTGAGTAGCTGGGATTACAGGCGCACGCCAGCACACCCAGCTAATTTTTGTATTTTTAGTATAGACAGAGTTTCCCCATGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATTCGCCTGCCTCAGCCTCCCGAAGGGCTGGGATTACAGGCATGAGCCACCGTGCCTGGTGGAGGAGTGATTTTTTTAAAATCCAGATTCTCAGCCCCAACCCTGGGGGTACTAACATAGAATCTTGGGCTTAGCCCAGGAATGGGTTTGCTAAGGAGCAACCCCAGGCTTGTGACTCAGCCAGTCCTTGCTTTGGGAGCAGAAACCTGGTTCGATGTCCTCATTCTACAGGGGTGGGAACGCTGGCTGACAAGGGCAGTGCATTGTTCCAGGCCTCATAGCAAGTAGGGGGTTCCCAGTAGATGTGAAGCCCTTTACAGGCTTTAGGAGCCTTCCCAATGTCTTCAGGTCCTGCAGGCTGCCAGGGCTGTGTGAAAGGAGCAGGGTGTCGAGCACAGCACCCATAGGCCTTTCGCAGGGCTGGTTCCTAGAGGGACTTGGTGGACCTGTGTCGTAGAACCTGGGTCTCCCTTGTCCTCCTCCTGCATAAGGTTAAACAAATTTAGCAAATAAGAATATTTGACCCTGGGCCAGGTGCAGN | pathogenic | 283,588 |
Is the chromosome 17, position 74310087 variant in DNAI2 (dynein axonemal intermediate chain 2) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | CCACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCTCAGCGGTAGCAGCTTTTCTGGGCATGTCCTTCCTCTGACTCCCATCCGTGAGTCCCAGGGCTGGGACCAGGTCCAGCAACACGTGCCTGCTGCCTGGAGTTAGCAGCAGAGAAATGCCAGTGGCCAGCCCACGGGAAGGACTGTGCCCAGAGCCCTTTCTTTATTTTATTTGAGACAGGGTCTCACTACGTTGCCCAGGCTGGAGTACAGTGGCACAAACATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCCCGAGGAGCTGGGACCACAGGTGCTCACCACCACACCCGGCTAATTTTTTTATTTTTTGTAGAAACAGGGTCTTTCCATGTTGTCCAGGCTGGTCTCAAAATCCTGGCTTCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACATGACCAGCCCAGAGCCCTTTAAAGAACAGCCTGTCAGACACCTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGCAAAAATAAAATATTAGCTGGGTGTGGTGACGGGCGCCAGTAATCCCAGTTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGACATCGTACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGTGTCTCAAAAAAAAAAAAAAAAAAAGCAACCTGTGAGCTGTGGATGAGTGAGGTCAGCACAGCTAGAAGTCAGACACAAGGAAGAACTTCCTACCTAGCAAGACTCTGAGATCCTGGAGCCCAGAAGGGACCAAGTGAGCCAAGCTGTGGCTCAGAAGCCTCTGTCCCTCCAACCATGATGTGGTCTACCTCCCACAGGTACCACATGGCTTACCTCACTGATGCTGCCTGGAGCCCCGTGAGGCCGACCGTTTTCTTTACCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACGCGCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAGGTCCCGGCGTGGGTGTGAGTGTGGGGTGCTGTGAGCACGTGTGCAGTGTGTGGCCAGGTGTGTTTGGGCCTCTGTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTTTGAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATTTGGCATCCTGGTAGCACAACAGAACCACCTGGGGGAAATTTAAAAAGAAACAAAAGCAGGTACCCGGCATCTCCTACCCACAGGCCGATTCCTTCAGAGCCCCTGGGGTTTGGCTGCTGGACCTTCCCCTTCATGTCAGGGTGGCCAGAGCTGAGCCCCACTGGCTGGGGCCACGGAAGGGTGGGGGCATTGGGGAACCACAGGGTGACTGTGAGGCGGAACTGAAGGGGTGGGGCGGGAGATGAGGCAGGGAAGCCAGGAGCCTTGACAACCAGTCTCCGAGTTTGAACTTCATCCTGTGGGCAGAGGCGTCCTGAGGATGTTTGAATAGGGCCAAGTGGCTGAGCCTCCCCAGGGGCCAGTTAATCAGACACACATAACTTTGCTCCTCTCTCCTCTACCTGGGTCTGCCCGGCCCCTTCAATAGGTGTGTGACGAGGCCCTCTTCTGCCTCCGGGTGCAGGACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCACCCTGCTGGAGGTCTCGCCTGGGCTCTCTACCCTCCAGAGGAATGAGAAGAACGTAGCCTCTTCCGTAAGCACCGGGTGCCTGGGGAAAATCCCTCCAGCACGTCCCGACCTGGCCCCACAGCAGAGCAGGCTAGTCAGACAAATAGATGGCCCCGCCCTCCCACCCCCAGAACATAGGTGCACATTTTGGGGGAAGCAGTGTGGGCTCCATAAATAGGTGTTGGTGTGTCCATTTGCCTTTGCTCAACTGCTGGGTAGCTAAGTGGCCTTCAGTAAGTCACGTCACTCTCCAGGATTCAGTTTTTTACCTGTAAATCAAAGAGGTTCGACTTGGTCAGTTTGTCTAGTTTCAAATAACACTTTTTTTTTTTTGTGGAAACTTTCCAATGAAGGCTTAGTATTGTATTATATTATATTGTATTTTAATTTAATTATTTTTATTTATTTATTTATTTTTGAGACAAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGAGATCTAGGCTCACTGCAATCTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATTACAAGTGCATACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGATCTCACCATACTGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGATGATCTGCCCACCCTGGCCTCCGAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGCCTAATTATTTTATTTATTTTTATTTTATCAGTTTATTTTATTTTACTTCATTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTCTACCTCCCAGGCTGAATCGGTCCTCCCACCTCAGCCTCCTGAGTTGCTGGGACCACAGGCATGCACCACCATGCCTGGCTCATTTTTTAATTTTTGTAGAGACAGGGTCTCCTTATGTTGCCCAGGCTGGTCTGAAACTCCAGGGCTCAAGCAATCCTTCCACCTCAGCCTCCCAAACTGCTGGGATTATAGGCATGAGCCACCACGCCCAGCCTGAAGACTTAGTAGAATGCTAATAGGGAAGCCAGATAGAAGGGGACTTGAAGAGGGGGACTGAGATCCATTCCTACATCCTTTCCCCAGTGGACAGCCCTGCAGGCAACCCCCCAGAACCATGGGGAACACTGTGGAACTGAAAACCCCTAGTGCTAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCTCGTCTCTACTAAAAATAGAAAATTAGCCAGGCATGGCGTCACATGCCTGTAATCCCAGCTCCTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAAGCAGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAACAAAACAAAAAAGGAAAACCCCTAGTGCTGAGGCCTGGAGAGCCTCCTGGCTCTGCCTGAGACTGGGATCTCACCATTGAGCTGGTCCTTGTTGGGCCAAAGCCGCCATATTTCATAGCTCCAAAGGGCGCTCTTCTGCCTGTGGTTCTGGAACTCCATGCTCCTTGGCATTGAGTAACTCAGTGTCCCTGCTGCAGCCTTCCAACCCCAATATTCAGCCCTCCTTCCTTGACACCAGCCCTGGGTACAGACCTCTACAGTACAGGGACTGTATGGAGAGCAAGGAGAGCTCAGCAGAAGCCCCACCTGGCCCCAGCACTGGAGTCGCTTGCCATCCTGCCCTCTCCCCACCGGGCTCTCTCTGTCCCTGGGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGGAGATGCGGCTGAAGGAGAAGGGTAAGGCGGAGGGCAGGGATGAGGAGCAGACCGATGAGGAGCTGGCCGTAGACCTGGAG | CCACCATTCTCGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCTCAGCGGTAGCAGCTTTTCTGGGCATGTCCTTCCTCTGACTCCCATCCGTGAGTCCCAGGGCTGGGACCAGGTCCAGCAACACGTGCCTGCTGCCTGGAGTTAGCAGCAGAGAAATGCCAGTGGCCAGCCCACGGGAAGGACTGTGCCCAGAGCCCTTTCTTTATTTTATTTGAGACAGGGTCTCACTACGTTGCCCAGGCTGGAGTACAGTGGCACAAACATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCCCGAGGAGCTGGGACCACAGGTGCTCACCACCACACCCGGCTAATTTTTTTATTTTTTGTAGAAACAGGGTCTTTCCATGTTGTCCAGGCTGGTCTCAAAATCCTGGCTTCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACATGACCAGCCCAGAGCCCTTTAAAGAACAGCCTGTCAGACACCTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGCAAAAATAAAATATTAGCTGGGTGTGGTGACGGGCGCCAGTAATCCCAGTTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGACATCGTACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGTGTCTCAAAAAAAAAAAAAAAAAAAGCAACCTGTGAGCTGTGGATGAGTGAGGTCAGCACAGCTAGAAGTCAGACACAAGGAAGAACTTCCTACCTAGCAAGACTCTGAGATCCTGGAGCCCAGAAGGGACCAAGTGAGCCAAGCTGTGGCTCAGAAGCCTCTGTCCCTCCAACCATGATGTGGTCTACCTCCCACAGGTACCACATGGCTTACCTCACTGATGCTGCCTGGAGCCCCGTGAGGCCGACCGTTTTCTTTACCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACGCGCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAGGTCCCGGCGTGGGTGTGAGTGTGGGGTGCTGTGAGCACGTGTGCAGTGTGTGGCCAGGTGTGTTTGGGCCTCTGTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTTTGAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATTTGGCATCCTGGTAGCACAACAGAACCACCTGGGGGAAATTTAAAAAGAAACAAAAGCAGGTACCCGGCATCTCCTACCCACAGGCCGATTCCTTCAGAGCCCCTGGGGTTTGGCTGCTGGACCTTCCCCTTCATGTCAGGGTGGCCAGAGCTGAGCCCCACTGGCTGGGGCCACGGAAGGGTGGGGGCATTGGGGAACCACAGGGTGACTGTGAGGCGGAACTGAAGGGGTGGGGCGGGAGATGAGGCAGGGAAGCCAGGAGCCTTGACAACCAGTCTCCGAGTTTGAACTTCATCCTGTGGGCAGAGGCGTCCTGAGGATGTTTGAATAGGGCCAAGTGGCTGAGCCTCCCCAGGGGCCAGTTAATCAGACACACATAACTTTGCTCCTCTCTCCTCTACCTGGGTCTGCCCGGCCCCTTCAATAGGTGTGTGACGAGGCCCTCTTCTGCCTCCGGGTGCAGGACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGACAACCACCCTGCTGGAGGTCTCGCCTGGGCTCTCTACCCTCCAGAGGAATGAGAAGAACGTAGCCTCTTCCGTAAGCACCGGGTGCCTGGGGAAAATCCCTCCAGCACGTCCCGACCTGGCCCCACAGCAGAGCAGGCTAGTCAGACAAATAGATGGCCCCGCCCTCCCACCCCCAGAACATAGGTGCACATTTTGGGGGAAGCAGTGTGGGCTCCATAAATAGGTGTTGGTGTGTCCATTTGCCTTTGCTCAACTGCTGGGTAGCTAAGTGGCCTTCAGTAAGTCACGTCACTCTCCAGGATTCAGTTTTTTACCTGTAAATCAAAGAGGTTCGACTTGGTCAGTTTGTCTAGTTTCAAATAACACTTTTTTTTTTTTGTGGAAACTTTCCAATGAAGGCTTAGTATTGTATTATATTATATTGTATTTTAATTTAATTATTTTTATTTATTTATTTATTTTTGAGACAAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGAGATCTAGGCTCACTGCAATCTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATTACAAGTGCATACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGATCTCACCATACTGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGATGATCTGCCCACCCTGGCCTCCGAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGCCTAATTATTTTATTTATTTTTATTTTATCAGTTTATTTTATTTTACTTCATTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTCTACCTCCCAGGCTGAATCGGTCCTCCCACCTCAGCCTCCTGAGTTGCTGGGACCACAGGCATGCACCACCATGCCTGGCTCATTTTTTAATTTTTGTAGAGACAGGGTCTCCTTATGTTGCCCAGGCTGGTCTGAAACTCCAGGGCTCAAGCAATCCTTCCACCTCAGCCTCCCAAACTGCTGGGATTATAGGCATGAGCCACCACGCCCAGCCTGAAGACTTAGTAGAATGCTAATAGGGAAGCCAGATAGAAGGGGACTTGAAGAGGGGGACTGAGATCCATTCCTACATCCTTTCCCCAGTGGACAGCCCTGCAGGCAACCCCCCAGAACCATGGGGAACACTGTGGAACTGAAAACCCCTAGTGCTAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCTCGTCTCTACTAAAAATAGAAAATTAGCCAGGCATGGCGTCACATGCCTGTAATCCCAGCTCCTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAAGCAGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAACAAAACAAAAAAGGAAAACCCCTAGTGCTGAGGCCTGGAGAGCCTCCTGGCTCTGCCTGAGACTGGGATCTCACCATTGAGCTGGTCCTTGTTGGGCCAAAGCCGCCATATTTCATAGCTCCAAAGGGCGCTCTTCTGCCTGTGGTTCTGGAACTCCATGCTCCTTGGCATTGAGTAACTCAGTGTCCCTGCTGCAGCCTTCCAACCCCAATATTCAGCCCTCCTTCCTTGACACCAGCCCTGGGTACAGACCTCTACAGTACAGGGACTGTATGGAGAGCAAGGAGAGCTCAGCAGAAGCCCCACCTGGCCCCAGCACTGGAGTCGCTTGCCATCCTGCCCTCTCCCCACCGGGCTCTCTCTGTCCCTGGGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGGAGATGCGGCTGAAGGAGAAGGGTAAGGCGGAGGGCAGGGATGAGGAGCAGACCGATGAGGAGCTGGCCGTAGACCTGGAGN | pathogenic | 283,612 |
Regarding the variant found on chromosome 17 at position 74310097 in gene DNAI2 (dynein axonemal intermediate chain 2): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_9'] | CGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCTCAGCGGTAGCAGCTTTTCTGGGCATGTCCTTCCTCTGACTCCCATCCGTGAGTCCCAGGGCTGGGACCAGGTCCAGCAACACGTGCCTGCTGCCTGGAGTTAGCAGCAGAGAAATGCCAGTGGCCAGCCCACGGGAAGGACTGTGCCCAGAGCCCTTTCTTTATTTTATTTGAGACAGGGTCTCACTACGTTGCCCAGGCTGGAGTACAGTGGCACAAACATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCCCGAGGAGCTGGGACCACAGGTGCTCACCACCACACCCGGCTAATTTTTTTATTTTTTGTAGAAACAGGGTCTTTCCATGTTGTCCAGGCTGGTCTCAAAATCCTGGCTTCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACATGACCAGCCCAGAGCCCTTTAAAGAACAGCCTGTCAGACACCTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGCAAAAATAAAATATTAGCTGGGTGTGGTGACGGGCGCCAGTAATCCCAGTTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGACATCGTACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGTGTCTCAAAAAAAAAAAAAAAAAAAGCAACCTGTGAGCTGTGGATGAGTGAGGTCAGCACAGCTAGAAGTCAGACACAAGGAAGAACTTCCTACCTAGCAAGACTCTGAGATCCTGGAGCCCAGAAGGGACCAAGTGAGCCAAGCTGTGGCTCAGAAGCCTCTGTCCCTCCAACCATGATGTGGTCTACCTCCCACAGGTACCACATGGCTTACCTCACTGATGCTGCCTGGAGCCCCGTGAGGCCGACCGTTTTCTTTACCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACGCGCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAGGTCCCGGCGTGGGTGTGAGTGTGGGGTGCTGTGAGCACGTGTGCAGTGTGTGGCCAGGTGTGTTTGGGCCTCTGTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTTTGAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATTTGGCATCCTGGTAGCACAACAGAACCACCTGGGGGAAATTTAAAAAGAAACAAAAGCAGGTACCCGGCATCTCCTACCCACAGGCCGATTCCTTCAGAGCCCCTGGGGTTTGGCTGCTGGACCTTCCCCTTCATGTCAGGGTGGCCAGAGCTGAGCCCCACTGGCTGGGGCCACGGAAGGGTGGGGGCATTGGGGAACCACAGGGTGACTGTGAGGCGGAACTGAAGGGGTGGGGCGGGAGATGAGGCAGGGAAGCCAGGAGCCTTGACAACCAGTCTCCGAGTTTGAACTTCATCCTGTGGGCAGAGGCGTCCTGAGGATGTTTGAATAGGGCCAAGTGGCTGAGCCTCCCCAGGGGCCAGTTAATCAGACACACATAACTTTGCTCCTCTCTCCTCTACCTGGGTCTGCCCGGCCCCTTCAATAGGTGTGTGACGAGGCCCTCTTCTGCCTCCGGGTGCAGGACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCACCCTGCTGGAGGTCTCGCCTGGGCTCTCTACCCTCCAGAGGAATGAGAAGAACGTAGCCTCTTCCGTAAGCACCGGGTGCCTGGGGAAAATCCCTCCAGCACGTCCCGACCTGGCCCCACAGCAGAGCAGGCTAGTCAGACAAATAGATGGCCCCGCCCTCCCACCCCCAGAACATAGGTGCACATTTTGGGGGAAGCAGTGTGGGCTCCATAAATAGGTGTTGGTGTGTCCATTTGCCTTTGCTCAACTGCTGGGTAGCTAAGTGGCCTTCAGTAAGTCACGTCACTCTCCAGGATTCAGTTTTTTACCTGTAAATCAAAGAGGTTCGACTTGGTCAGTTTGTCTAGTTTCAAATAACACTTTTTTTTTTTTGTGGAAACTTTCCAATGAAGGCTTAGTATTGTATTATATTATATTGTATTTTAATTTAATTATTTTTATTTATTTATTTATTTTTGAGACAAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGAGATCTAGGCTCACTGCAATCTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATTACAAGTGCATACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGATCTCACCATACTGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGATGATCTGCCCACCCTGGCCTCCGAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGCCTAATTATTTTATTTATTTTTATTTTATCAGTTTATTTTATTTTACTTCATTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTCTACCTCCCAGGCTGAATCGGTCCTCCCACCTCAGCCTCCTGAGTTGCTGGGACCACAGGCATGCACCACCATGCCTGGCTCATTTTTTAATTTTTGTAGAGACAGGGTCTCCTTATGTTGCCCAGGCTGGTCTGAAACTCCAGGGCTCAAGCAATCCTTCCACCTCAGCCTCCCAAACTGCTGGGATTATAGGCATGAGCCACCACGCCCAGCCTGAAGACTTAGTAGAATGCTAATAGGGAAGCCAGATAGAAGGGGACTTGAAGAGGGGGACTGAGATCCATTCCTACATCCTTTCCCCAGTGGACAGCCCTGCAGGCAACCCCCCAGAACCATGGGGAACACTGTGGAACTGAAAACCCCTAGTGCTAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCTCGTCTCTACTAAAAATAGAAAATTAGCCAGGCATGGCGTCACATGCCTGTAATCCCAGCTCCTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAAGCAGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAACAAAACAAAAAAGGAAAACCCCTAGTGCTGAGGCCTGGAGAGCCTCCTGGCTCTGCCTGAGACTGGGATCTCACCATTGAGCTGGTCCTTGTTGGGCCAAAGCCGCCATATTTCATAGCTCCAAAGGGCGCTCTTCTGCCTGTGGTTCTGGAACTCCATGCTCCTTGGCATTGAGTAACTCAGTGTCCCTGCTGCAGCCTTCCAACCCCAATATTCAGCCCTCCTTCCTTGACACCAGCCCTGGGTACAGACCTCTACAGTACAGGGACTGTATGGAGAGCAAGGAGAGCTCAGCAGAAGCCCCACCTGGCCCCAGCACTGGAGTCGCTTGCCATCCTGCCCTCTCCCCACCGGGCTCTCTCTGTCCCTGGGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGGAGATGCGGCTGAAGGAGAAGGGTAAGGCGGAGGGCAGGGATGAGGAGCAGACCGATGAGGAGCTGGCCGTAGACCTGGAGGCGCTGGTCA | CGGCCTCCCAAAGTCCTGGGATGACAGGCATGAGCCACCGCGCCCGGCCCAGATCCTTTCTTTAGTCTTGATCATTTCTCCCACTGTGGTCTGGCTGTCAACACACTAGGTTTGCAAAGGTGACTGGGAAGTGTAGTCTGCCTTGCTCACCAGGGGCCCAGCTACAACTATATTGCAATGGAGGAAGGGAGAGGAGGTCTGGGTGAAAATCTGAAGGCTGCACTGTGTGTGTGTCCCTTTTAAAAAAATGTTCCGTCTTCACTGAAGAAACTCTTGAAAACCCAGATGAAACCAAGTAGGAAGTGACACTCTCCTTATCTCAGCGGTAGCAGCTTTTCTGGGCATGTCCTTCCTCTGACTCCCATCCGTGAGTCCCAGGGCTGGGACCAGGTCCAGCAACACGTGCCTGCTGCCTGGAGTTAGCAGCAGAGAAATGCCAGTGGCCAGCCCACGGGAAGGACTGTGCCCAGAGCCCTTTCTTTATTTTATTTGAGACAGGGTCTCACTACGTTGCCCAGGCTGGAGTACAGTGGCACAAACATGGCTCACTGCAGCCTCGACCTCCTGGGCTCAAGCGATCCTCCCATCTCAGCCTCCCGAGGAGCTGGGACCACAGGTGCTCACCACCACACCCGGCTAATTTTTTTATTTTTTGTAGAAACAGGGTCTTTCCATGTTGTCCAGGCTGGTCTCAAAATCCTGGCTTCAAGCGATCTTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACATGACCAGCCCAGAGCCCTTTAAAGAACAGCCTGTCAGACACCTGAGGTCAAGAGTTTGAGAGCAGCCTGGCCAACATGGTGAAACCCCATCTCTAGCAAAAATAAAATATTAGCTGGGTGTGGTGACGGGCGCCAGTAATCCCAGTTACTCGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAGGAGGCAGAGATTGCAGTGAGCCGACATCGTACCACTGCACTCCAGCCTGGGCAACAGAGCAAGAGTGTCTCAAAAAAAAAAAAAAAAAAAGCAACCTGTGAGCTGTGGATGAGTGAGGTCAGCACAGCTAGAAGTCAGACACAAGGAAGAACTTCCTACCTAGCAAGACTCTGAGATCCTGGAGCCCAGAAGGGACCAAGTGAGCCAAGCTGTGGCTCAGAAGCCTCTGTCCCTCCAACCATGATGTGGTCTACCTCCCACAGGTACCACATGGCTTACCTCACTGATGCTGCCTGGAGCCCCGTGAGGCCGACCGTTTTCTTTACCACCAGGATGGACGGAACCCTGGATATCTGGGACTTCATGTTCGAGCAGTGCGATCCCACCCTCAGCTTGAAGGTCACGCGCATGTCCCTCCTTGTGCATCCAGGTCCTCAGGGAGCCAGGTCCCGGCGTGGGTGTGAGTGTGGGGTGCTGTGAGCACGTGTGCAGTGTGTGGCCAGGTGTGTTTGGGCCTCTGTGGGGGAGCCGTGTGCAGGCTGACTGCAGCGATTGCTTTTGAGCGTGTGCTCCTACAAAGGTTAAGGGGCCTGGGGGATTTGGCATCCTGGTAGCACAACAGAACCACCTGGGGGAAATTTAAAAAGAAACAAAAGCAGGTACCCGGCATCTCCTACCCACAGGCCGATTCCTTCAGAGCCCCTGGGGTTTGGCTGCTGGACCTTCCCCTTCATGTCAGGGTGGCCAGAGCTGAGCCCCACTGGCTGGGGCCACGGAAGGGTGGGGGCATTGGGGAACCACAGGGTGACTGTGAGGCGGAACTGAAGGGGTGGGGCGGGAGATGAGGCAGGGAAGCCAGGAGCCTTGACAACCAGTCTCCGAGTTTGAACTTCATCCTGTGGGCAGAGGCGTCCTGAGGATGTTTGAATAGGGCCAAGTGGCTGAGCCTCCCCAGGGGCCAGTTAATCAGACACACATAACTTTGCTCCTCTCTCCTCTACCTGGGTCTGCCCGGCCCCTTCAATAGGTGTGTGACGAGGCCCTCTTCTGCCTCCGGGTGCAGGACAATGGGTGTCTCATCGCCTGCGGCTCCCAGCTGGGGACAACCAACCCTGCTGGAGGTCTCGCCTGGGCTCTCTACCCTCCAGAGGAATGAGAAGAACGTAGCCTCTTCCGTAAGCACCGGGTGCCTGGGGAAAATCCCTCCAGCACGTCCCGACCTGGCCCCACAGCAGAGCAGGCTAGTCAGACAAATAGATGGCCCCGCCCTCCCACCCCCAGAACATAGGTGCACATTTTGGGGGAAGCAGTGTGGGCTCCATAAATAGGTGTTGGTGTGTCCATTTGCCTTTGCTCAACTGCTGGGTAGCTAAGTGGCCTTCAGTAAGTCACGTCACTCTCCAGGATTCAGTTTTTTACCTGTAAATCAAAGAGGTTCGACTTGGTCAGTTTGTCTAGTTTCAAATAACACTTTTTTTTTTTTGTGGAAACTTTCCAATGAAGGCTTAGTATTGTATTATATTATATTGTATTTTAATTTAATTATTTTTATTTATTTATTTATTTTTGAGACAAAGTCACGCTCTGTTGCCCAGGCTGGAGTGCAATGGTGAGATCTAGGCTCACTGCAATCTCTGCTTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGGATTACAAGTGCATACCACCACGCCCAGCTAATTTTTGTATTTTTAATAGAGACAGGATCTCACCATACTGGCCAGGCTGGTCTTGAACTCTTGACCTTAAGATGATCTGCCCACCCTGGCCTCCGAAAGTGCTGGGATTATAGGCGTGAGCCACCGTGCCCAGCCTAATTATTTTATTTATTTTTATTTTATCAGTTTATTTTATTTTACTTCATTTTGAGACAGGGTCTTGCTTTGTTGCCCAGGCTGGAGTGCAGTGGCACAATCATGGCCCACTGCAGCCTCTACCTCCCAGGCTGAATCGGTCCTCCCACCTCAGCCTCCTGAGTTGCTGGGACCACAGGCATGCACCACCATGCCTGGCTCATTTTTTAATTTTTGTAGAGACAGGGTCTCCTTATGTTGCCCAGGCTGGTCTGAAACTCCAGGGCTCAAGCAATCCTTCCACCTCAGCCTCCCAAACTGCTGGGATTATAGGCATGAGCCACCACGCCCAGCCTGAAGACTTAGTAGAATGCTAATAGGGAAGCCAGATAGAAGGGGACTTGAAGAGGGGGACTGAGATCCATTCCTACATCCTTTCCCCAGTGGACAGCCCTGCAGGCAACCCCCCAGAACCATGGGGAACACTGTGGAACTGAAAACCCCTAGTGCTAGGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCGGGAGTTCGAGACCAGCCTGACCAACATGAAGAAACCTCGTCTCTACTAAAAATAGAAAATTAGCCAGGCATGGCGTCACATGCCTGTAATCCCAGCTCCTTGAGAGGCTGAGGCAGGAGAATTGCTTGAACGTGGGAAGCAGAGGTTGTGGTGAGCCGAGATCGTGCCATTGCATTCCAGCCTGGGCAACAAGAGTGAAACTCTGTCTCAAAAACAAAACAAAACAAAAAAGGAAAACCCCTAGTGCTGAGGCCTGGAGAGCCTCCTGGCTCTGCCTGAGACTGGGATCTCACCATTGAGCTGGTCCTTGTTGGGCCAAAGCCGCCATATTTCATAGCTCCAAAGGGCGCTCTTCTGCCTGTGGTTCTGGAACTCCATGCTCCTTGGCATTGAGTAACTCAGTGTCCCTGCTGCAGCCTTCCAACCCCAATATTCAGCCCTCCTTCCTTGACACCAGCCCTGGGTACAGACCTCTACAGTACAGGGACTGTATGGAGAGCAAGGAGAGCTCAGCAGAAGCCCCACCTGGCCCCAGCACTGGAGTCGCTTGCCATCCTGCCCTCTCCCCACCGGGCTCTCTCTGTCCCTGGGTGCCCAGATGTTTGAGCGTGAGACCCGGCGAGAGAAGATCCTGGAGGCCAGGCACCGGGAGATGCGGCTGAAGGAGAAGGGTAAGGCGGAGGGCAGGGATGAGGAGCAGACCGATGAGGAGCTGGCCGTAGACCTGGAGGCGCTGGTC | pathogenic | 283,613 |
Is the genetic change at chromosome 17, position 74919524, within gene USH1G benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Usher_syndrome_type_1G'] | CCTTGACCACTAGGTGAAGGAGGGGGAGCTGGCTATGCTTGGGATGGGGTACAGACTGAAAGTTGGGGCATTTGGCTGAAGAGTCTGGCTGAGGAACTTCCCCTCTGGGGTGGACGGGAGGAGGGGAGGCAGCCCAAACTCTTCCCTTCACAACAATGCAGGAAGTGAGCAAGTCTCTGGCCTGAGCACAAGAGAACAAGACCATCAGGGGAGGGGTGGGAGAGGCCACGGCGCCCGGGACAGGTGCACCCTCCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAACAGATCTCACATGAGGCCCTCCAGAGGCATCATTTTCACCCAGGGCAGCCATCTGGACAACTTAGCCTCCCCATCTCTCGGCAGGCCAATTGTCAGGGATGGGGGACGCCAGCCTATGGGTGACCTCCCCATCCCCAAAACTCTGAACCAGCCTGCCTCCCCACACCCATCCCTGCCCCAGCCATTCAGGATAACGGCCATAGATACCTAAGAGGAAATGAGGACAAAGTTTGTTGGGCCTGTGGGATGCCATTGGGGAGGGGCCAGGGCAGGGGCTGGCCACAGCATGACCATTGTGGTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAA | CCTTGACCACTAGGTGAAGGAGGGGGAGCTGGCTATGCTTGGGATGGGGTACAGACTGAAAGTTGGGGCATTTGGCTGAAGAGTCTGGCTGAGGAACTTCCCCTCTGGGGTGGACGGGAGGAGGGGAGGCAGCCCAAACTCTTCCCTTCACAACAATGCAGGAAGTGAGCAAGTCTCTGGCCTGAGCACAAGAGAACAAGACCATCAGGGGAGGGGTGGGAGAGGCCACGGCGCCCGGGACAGGTGCACCCTCCCGCATCCACCTCCCACACTCTCATCCAGTTCCGATGCCCCTGCCCTCCCTCTGGGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAACAGATCTCACATGAGGCCCTCCAGAGGCATCATTTTCACCCAGGGCAGCCATCTGGACAACTTAGCCTCCCCATCTCTCGGCAGGCCAATTGTCAGGGATGGGGGACGCCAGCCTATGGGTGACCTCCCCATCCCCAAAACTCTGAACCAGCCTGCCTCCCCACACCCATCCCTGCCCCAGCCATTCAGGATAACGGCCATAGATACCTAAGAGGAAATGAGGACAAAGTTTGTTGGGCCTGTGGGATGCCATTGGGGAGGGGCCAGGGCAGGGGCTGGCCACAGCATGACCATTGTGGTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAN | pathogenic | 283,701 |
Regarding the variant at chromosome 17 and position 74919831, affecting gene USH1G (USH1 protein network component sans): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Usher_syndrome_type_1G'] | GGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAACAGATCTCACATGAGGCCCTCCAGAGGCATCATTTTCACCCAGGGCAGCCATCTGGACAACTTAGCCTCCCCATCTCTCGGCAGGCCAATTGTCAGGGATGGGGGACGCCAGCCTATGGGTGACCTCCCCATCCCCAAAACTCTGAACCAGCCTGCCTCCCCACACCCATCCCTGCCCCAGCCATTCAGGATAACGGCCATAGATACCTAAGAGGAAATGAGGACAAAGTTTGTTGGGCCTGTGGGATGCCATTGGGGAGGGGCCAGGGCAGGGGCTGGCCACAGCATGACCATTGTGGTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCT | GGGCAGGCCTCCCCCAAGTCTACATGTCCTTTACGGCTGCTCAGAATGGGTGGCTCAGGGCCTTCAAGACCCCTCAGAACTGGAGTTCCGGAACATTCTCTTGCCCCTCTGGTGCCTCCAGGCCACACCCTCAGCTTCAAGGTGCAGACAGACTTTCAAAGGAGTCGCCCCAACTGGTCCTTGCTCCTGGGGAAGGGGGCTGCAGGGCTGGCAACTGTGAGGACCTCGAGACCCCACCATAGGTTGTGGCAACTTGCAATTCATTTTGGTCTGGGGAGAGGAGCCCCCGGTTATCTGTGGAGGAAGAGACAGAAAGAAACAGATCTCACATGAGGCCCTCCAGAGGCATCATTTTCACCCAGGGCAGCCATCTGGACAACTTAGCCTCCCCATCTCTCGGCAGGCCAATTGTCAGGGATGGGGGACGCCAGCCTATGGGTGACCTCCCCATCCCCAAAACTCTGAACCAGCCTGCCTCCCCACACCCATCCCTGCCCCAGCCATTCAGGATAACGGCCATAGATACCTAAGAGGAAATGAGGACAAAGTTTGTTGGGCCTGTGGGATGCCATTGGGGAGGGGCCAGGGCAGGGGCTGGCCACAGCATGACCATTGTGGTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGC | pathogenic | 283,704 |
Clinically, how would you classify the variant at chromosome 17, position 74920448, gene USH1G (USH1 protein network component sans): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Usher_syndrome_type_1G'] | GTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCC | GTGGCAGCCTTGGGCAACTATGACGGCCTTTGGAACATGAACTCTGCCTCCAGGGCTGCTGCTGACCCTCTTGGGAGCATTTGCCCACGTTCCTGATTGCAAAGTTCAGGAACAGTAGGTAAAACATCTCCCTAAGGCCAGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCC | pathogenic | 283,716 |
Chromosome 17, position 74920627, gene USH1G (USH1 protein network component sans): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Usher_syndrome_type_1'] | GGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCAT | GGCCAGAGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCCATCTCTACTAAAAATACAGAAATTAGCTGGGCATGGTGGTGCACTCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAGGTTACAGTGATTGTGCCACTGCACTCCAGCCTGGATGACAAGAGGGAAACTGTCTCAAAAAAAAAAAAAAAAAAATCTGCCTGAGGTCTTGGGCAATTGAGAGGCCCTGCTGACTGCACGCCCTGCATCCCATGGCAGCCACCTTGACCCCAGGCTCTAAAGCCATGCAGACCAGGGATCAAGCCTAGCTCCATGCTGAGCAGCAGCAGGACCTTGAGGTGAGCTATTCTAACTGTCTGAGCCTCCACTTGCTCATTGGCTGTAAAATGGGAACGATATAATCCACCAATATAGTCCAGCGCACACAGGCTTTTAGAGGGATTAAGCAAGAGGACTTGTTCAAGGGCACAACCCAGCACCTAGGAGGTGGGAGGGCTCAAAAACACCCCAGCTGTGATTCCTGTGACTGTTGAAATTCATTGACATTAAGAGGCCCATTTCCCCACTTGTCGATGTCCCCAGAATCGAGGTGCACTTTCACTGTGATAAGAATGCCTCGGGTCATCATTAAATTGGCCACTTCTTTTTCTGAGCTGGTGGTAAATAAAATAAGGGTGCCTTTTATCATCGATGGCCTCATTTCGATTTTATGAAATACAGTATCCCCCACCCCCTACTCCTGAATAGGCAGATCTGTACCCCCTCCCCAGGGGCCTTCCAACTCCTGCTCCTCCATCCCCCCCGCCAGGCTGGACACTCACAGCTCTGTGTCCTCCAGGGCCGGCGGGCGCTCCATCGCCTGCCGCCGCCTCCTCACGGCCCCCAAGATCTTCTTTCGGGGCCCCAGTGGGACGCTGATGCTGCGGAGGTCGAGGTCAGAGCACAGCATCAAAGCCTCGAGGTCGATCTTCTCCTGCCGCAGGAGGGCGGCAAAGTCCTCCATGTGCAGAGAGGCCAGGAAGGTCTCCAGCGGGCTAGTCTCGGGCTCCAGGTCCTCGTCCAAGCCTAAATCGAGCTCATCCCAGGGCAGCTCCTCCCCACAGCTGCGGTCCTGCAGGCTGTTGGCACTGCCCAGGCTGTCATCGTCCAGGCTGGGGGAGCTCTGCAGCCGACCCCGCGGCGCTCCCACCCCATCCAGACCCCCATCCTCGCGGCCCAGTCCGTGCAGCCCACTGCTCAAGTAATTTCTGCGGAACACCATGGTGCCCAGGCCGGGGCGGGTAAACAGGGAGTCGTGGCCTGAGTCGGTGCTGACCTCCGAGTGGGCAGGCTCGGCCGCCAGCGTGGCACGGGAGACGCTGTCCTCGTCCGAGAGGAACATGTCCCGGAGCGGGGCTCGGCCCCACTCCTTGGGATTGGCGTAGGTGCCCTGGCGCACGAACATCACGTCGCTGCCCAGCTGCAGGCCCGAGAGCGAGCGGGCGCTCTTGCGCCCATCCTCGGAGACCTTGAAGGTGCCTTCGCCGCCCTGCTTGCGCCGCTCCAGCTTCTTCTGCATCTTGGTCTTGCCCCTGGCCGTGCCGTGCAGCGTGGCCTGAGAGTACGGCAGGTGGCTGCCCAGCGCCAGATGCTGCAGCCGGCGGCTCAGGGTGCTGGACGTGAGGCTGGAGAAGCTGAGGGTGTCGGAACGCTCGGCCAGCTCGCGCCGGTATCGCCGCTCCATGCGTTCGTGGTGCCTCCGCTGCAGCTTGGCGCACTCGCGGATGCGCCGCTCCGCCTCGCGGAAGGCCTTGTCCTTCAGCTTACCCACCAGCTTGGGGTTGAGGCTGCTCTGCTTGGCCGCGATGGAGTCCAGGTAGCGCACGCATTCCATGTGGCCCTTCATGGCAGCCATGTCCAGCGGCGTGTGGTAGTCGTTGTCTAGGCACCAGATGTTGGCTCCGAAGGACACCAGGAAGGACAGGCAGTGCAAGTGGCCATTGGAAGCTGCCAGATGAGCAGGGGTGTGTTGCCCCAGATGTCACACTTGTCCGGGTCACCCCTGCAGGGAAAGCATTCAGGAGGGACGAGTGACGAGTCCTGGCTGGGGATGGAGGTGGAGGGAGTGGAGGGGGGAGGGGAGCTTCCCCACTGTCACAGCAACCCCCAAAGGGACCGTGGGCCTGAGATCTCTCCCACTCCAGGAGACCTGCAGGCCTGAGCCACCCAACAGGTGAGCCCAGGGGTGAGCCCAGGGGAAAATGGCCTCAGGCATGCAGGGGGTGGGGTGACAGAGAAGGCGGGACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCC | pathogenic | 283,719 |
Variant on chromosome 17, at position 74922961, affecting USH1G (USH1 protein network component sans): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic | GACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCATAATCAGGAACCCCCAAATCCCGGTTTCTCCCCTCCTAGCCCCAGATCCAGGTCACAAGTGTTAACAAGTGTCAGATGCCTCCGCTTGGGTCCCCTCAACATGTGTCTCTCCCACAAACGCCAGGGTCTAAGGGTCCGCCTGTCTGCAGGGGAAGGAGGCAGCTCAGAGGAGTGGTGGACGAGGAAGTTTGGGGTGGTCTCAGGGGCCTCAAGGGCACTGGGTGGGGCGTACTCACCCGCGGCTCACAATGAGACGCAGCGACTCGAGGTTGCCATGGTAGGCAGCCCAGAGAGTGGGGGTCATGCCATCCTCGTCGGGGGCATTCAGCTCCTTTCGGGTGGCCTCCTTGAGGAGCTCCAGGTAGCCATCCCGGGCTGCCCGGTGGTACTGGTCGTTCATGGCGCCCGAAGTGGACGGGGCGGGCGGGGGACACGGAGAAAGGCCCCCCGCAGGGGAGGGCGGCGGTATTAGGGCTGAGGCATGAGGTTGGAGGACGGGGCCGGGCAGGGGCCGGGGCCGCCAGCCCCCGCTGCCGCAGACGGAGGGTGCGGAGCGCCAGAGCCGCGACTACCAAGACATCTGAAACGCTCACCCGGGGGCGGGGGCGGAGGGGGCGGGGGACGAAATCTCCCGCTGTCCAGGGAGCCGCCCCCGGTCTTCCCCTGGGTCCTAAACACCCTGCATGCACCTCAATACACGAGGGTGACCCACGCAAGGCCCTGTCCTCCTCTTCAAAAGTGCCCACCCCGGGGCCGCGCACTGTGACGCCCAGTCCGGGGACAGTCAGAGATCTGTCCTCACTAGAGCCTGGGGCGCTGTGGCTCCGTATTTCTCCACCTGTCAGTGGAACGAACCGAGAGCTGGGGAGGGGTGCCGGAGGGCGGGGTGGGGGAGCCGTCCTGAGCCCCAGGACAGTGGACCTAAGAAGGGGCACCGTGACCGACCGCGGTTCGGTCAGCGAGTGGGACGGGCCAGGCCGCCGCCGCCTGAACGGAGTCCCTCGACCGCACTCCAGCAGGGGGCGCTGGAGGACTGGCAGCGGCTCCGCGTGCCGCGTGGAACTTCGCACCCAAGCCCCGGAGTCCAACGGAGCGCGGGCCGGCGGCGGGGGCGGGCAGGGCGGTGGGATAGAGGAAAGGGGAGCTTGGATCACTGCGAGGACCGTGGGGGAGAGGGGAACTGGGGTTGCCATCCCAGGCAGGAGCACAGGAGCACAGGATTCAGGGTGCGCCGCGGCTGGAGGGCGTCAGGGTGCCCGCAGGCTTTTTGGACGTCTCTTGAGCTTAGCTCTCGGGGCTCTGGGCGCCTGGAATGCTGCGCGCCAGGGCGCGGTGGGCACCAGGGGCGGGGTGCCCTCTAGGTGCCGCAGTGCGGGGCCGCGCCCGAGCCTGGCCGCACCGGGGTGACGGAGTGGGGTCGCCTCTCAAAGGGTAAATATGAATCTTGCCTTATCTGGCTCCAGCGGGCTCTTCCCTAAATTCACCTTGGAGAAAGATGGATCATGTGAGCGGGACTGAGAGCTTTATGGAGCCAAACTCCCGCAGCTGTAAATCACCCTGTCCTCCTGGGTATAAAGCGCCTGTCCATCTCGGCGTGGGAGAGAGGAGACGCTCGCCGTCCCCTGACCCCCAGCTCAGCGCCGGCTCCAAGCCCAGCCAGGTGGGTGCCCCGGGCCGGAGGGCAGTCGGACTTGGGGAGTGGGGACCTTGGAGGGGTCCAACCGGGTGCTGCCGCTTCTCCTTTCTTCCCATCCAGCGAGAGGGGCAGGTTCCGCATTTTCTCTTCCCCTTTCCCAGCGCTTCCTCCAGCACCCGAAGCCCCAACCCTGCGGGTCAGGAACTCCCTAGTCCCCAAGTCTAGGGATGAGATGGGGGAAGGAGAGCCGTCAGGGTTGACCTGGAGTTTTGTCCGCTCCTCCCCTACAGTGATCCCTCTAGCCTTCTCCAGTCGCCTCCGCCATGTCCGAGGAGCTGGCCCAGGGCCCCAAGGAGAGCCCCCCGGCGCCGCGTGCGGGCCCCAGGGAGGTGTGGAAGAAGGGTGGCCGCCTGCTGTCGGTGCTGCTGGCGGTGAACGTGCTGCTCCTCGCCTGCACGCTCATCAGCGGCGGAGCCTTCAACAAGGTGGCCGTGTACGACACCGACGTGTTCGCGCTGCTCACTGCGATGATGCTGCTGGCAACGCTCTGGATCCTCTTCTACCTCCTCCGAACCGTGCGCTGCCCCTGCGCGGTACCCTACCGGGACGCGCACGCTGGCCCCATCTGGCTCCGAGGTGCCAGGGGAGGTGGGGGCGAGGTAGGGTGGGCACAACAGGGAGCTGCAGGCTAGGGCTCTC | GACTGGGGCGGGGCCTTCCCCAAGCTAACTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCATAATCAGGAACCCCCAAATCCCGGTTTCTCCCCTCCTAGCCCCAGATCCAGGTCACAAGTGTTAACAAGTGTCAGATGCCTCCGCTTGGGTCCCCTCAACATGTGTCTCTCCCACAAACGCCAGGGTCTAAGGGTCCGCCTGTCTGCAGGGGAAGGAGGCAGCTCAGAGGAGTGGTGGACGAGGAAGTTTGGGGTGGTCTCAGGGGCCTCAAGGGCACTGGGTGGGGCGTACTCACCCGCGGCTCACAATGAGACGCAGCGACTCGAGGTTGCCATGGTAGGCAGCCCAGAGTGGGGGTCATGCCATCCTCGTCGGGGGCATTCAGCTCCTTTCGGGTGGCCTCCTTGAGGAGCTCCAGGTAGCCATCCCGGGCTGCCCGGTGGTACTGGTCGTTCATGGCGCCCGAAGTGGACGGGGCGGGCGGGGGACACGGAGAAAGGCCCCCCGCAGGGGAGGGCGGCGGTATTAGGGCTGAGGCATGAGGTTGGAGGACGGGGCCGGGCAGGGGCCGGGGCCGCCAGCCCCCGCTGCCGCAGACGGAGGGTGCGGAGCGCCAGAGCCGCGACTACCAAGACATCTGAAACGCTCACCCGGGGGCGGGGGCGGAGGGGGCGGGGGACGAAATCTCCCGCTGTCCAGGGAGCCGCCCCCGGTCTTCCCCTGGGTCCTAAACACCCTGCATGCACCTCAATACACGAGGGTGACCCACGCAAGGCCCTGTCCTCCTCTTCAAAAGTGCCCACCCCGGGGCCGCGCACTGTGACGCCCAGTCCGGGGACAGTCAGAGATCTGTCCTCACTAGAGCCTGGGGCGCTGTGGCTCCGTATTTCTCCACCTGTCAGTGGAACGAACCGAGAGCTGGGGAGGGGTGCCGGAGGGCGGGGTGGGGGAGCCGTCCTGAGCCCCAGGACAGTGGACCTAAGAAGGGGCACCGTGACCGACCGCGGTTCGGTCAGCGAGTGGGACGGGCCAGGCCGCCGCCGCCTGAACGGAGTCCCTCGACCGCACTCCAGCAGGGGGCGCTGGAGGACTGGCAGCGGCTCCGCGTGCCGCGTGGAACTTCGCACCCAAGCCCCGGAGTCCAACGGAGCGCGGGCCGGCGGCGGGGGCGGGCAGGGCGGTGGGATAGAGGAAAGGGGAGCTTGGATCACTGCGAGGACCGTGGGGGAGAGGGGAACTGGGGTTGCCATCCCAGGCAGGAGCACAGGAGCACAGGATTCAGGGTGCGCCGCGGCTGGAGGGCGTCAGGGTGCCCGCAGGCTTTTTGGACGTCTCTTGAGCTTAGCTCTCGGGGCTCTGGGCGCCTGGAATGCTGCGCGCCAGGGCGCGGTGGGCACCAGGGGCGGGGTGCCCTCTAGGTGCCGCAGTGCGGGGCCGCGCCCGAGCCTGGCCGCACCGGGGTGACGGAGTGGGGTCGCCTCTCAAAGGGTAAATATGAATCTTGCCTTATCTGGCTCCAGCGGGCTCTTCCCTAAATTCACCTTGGAGAAAGATGGATCATGTGAGCGGGACTGAGAGCTTTATGGAGCCAAACTCCCGCAGCTGTAAATCACCCTGTCCTCCTGGGTATAAAGCGCCTGTCCATCTCGGCGTGGGAGAGAGGAGACGCTCGCCGTCCCCTGACCCCCAGCTCAGCGCCGGCTCCAAGCCCAGCCAGGTGGGTGCCCCGGGCCGGAGGGCAGTCGGACTTGGGGAGTGGGGACCTTGGAGGGGTCCAACCGGGTGCTGCCGCTTCTCCTTTCTTCCCATCCAGCGAGAGGGGCAGGTTCCGCATTTTCTCTTCCCCTTTCCCAGCGCTTCCTCCAGCACCCGAAGCCCCAACCCTGCGGGTCAGGAACTCCCTAGTCCCCAAGTCTAGGGATGAGATGGGGGAAGGAGAGCCGTCAGGGTTGACCTGGAGTTTTGTCCGCTCCTCCCCTACAGTGATCCCTCTAGCCTTCTCCAGTCGCCTCCGCCATGTCCGAGGAGCTGGCCCAGGGCCCCAAGGAGAGCCCCCCGGCGCCGCGTGCGGGCCCCAGGGAGGTGTGGAAGAAGGGTGGCCGCCTGCTGTCGGTGCTGCTGGCGGTGAACGTGCTGCTCCTCGCCTGCACGCTCATCAGCGGCGGAGCCTTCAACAAGGTGGCCGTGTACGACACCGACGTGTTCGCGCTGCTCACTGCGATGATGCTGCTGGCAACGCTCTGGATCCTCTTCTACCTCCTCCGAACCGTGCGCTGCCCCTGCGCGGTACCCTACCGGGACGCGCACGCTGGCCCCATCTGGCTCCGAGGTGCCAGGGGAGGTGGGGGCGAGGTAGGGTGGGCACAACAGGGAGCTGCAGGCTAGGGCTCTCNN | pathogenic | 283,724 |
Located at chromosome 17 position 74922989, the variant affecting gene USH1G (USH1 protein network component sans)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic | CTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCATAATCAGGAACCCCCAAATCCCGGTTTCTCCCCTCCTAGCCCCAGATCCAGGTCACAAGTGTTAACAAGTGTCAGATGCCTCCGCTTGGGTCCCCTCAACATGTGTCTCTCCCACAAACGCCAGGGTCTAAGGGTCCGCCTGTCTGCAGGGGAAGGAGGCAGCTCAGAGGAGTGGTGGACGAGGAAGTTTGGGGTGGTCTCAGGGGCCTCAAGGGCACTGGGTGGGGCGTACTCACCCGCGGCTCACAATGAGACGCAGCGACTCGAGGTTGCCATGGTAGGCAGCCCAGAGAGTGGGGGTCATGCCATCCTCGTCGGGGGCATTCAGCTCCTTTCGGGTGGCCTCCTTGAGGAGCTCCAGGTAGCCATCCCGGGCTGCCCGGTGGTACTGGTCGTTCATGGCGCCCGAAGTGGACGGGGCGGGCGGGGGACACGGAGAAAGGCCCCCCGCAGGGGAGGGCGGCGGTATTAGGGCTGAGGCATGAGGTTGGAGGACGGGGCCGGGCAGGGGCCGGGGCCGCCAGCCCCCGCTGCCGCAGACGGAGGGTGCGGAGCGCCAGAGCCGCGACTACCAAGACATCTGAAACGCTCACCCGGGGGCGGGGGCGGAGGGGGCGGGGGACGAAATCTCCCGCTGTCCAGGGAGCCGCCCCCGGTCTTCCCCTGGGTCCTAAACACCCTGCATGCACCTCAATACACGAGGGTGACCCACGCAAGGCCCTGTCCTCCTCTTCAAAAGTGCCCACCCCGGGGCCGCGCACTGTGACGCCCAGTCCGGGGACAGTCAGAGATCTGTCCTCACTAGAGCCTGGGGCGCTGTGGCTCCGTATTTCTCCACCTGTCAGTGGAACGAACCGAGAGCTGGGGAGGGGTGCCGGAGGGCGGGGTGGGGGAGCCGTCCTGAGCCCCAGGACAGTGGACCTAAGAAGGGGCACCGTGACCGACCGCGGTTCGGTCAGCGAGTGGGACGGGCCAGGCCGCCGCCGCCTGAACGGAGTCCCTCGACCGCACTCCAGCAGGGGGCGCTGGAGGACTGGCAGCGGCTCCGCGTGCCGCGTGGAACTTCGCACCCAAGCCCCGGAGTCCAACGGAGCGCGGGCCGGCGGCGGGGGCGGGCAGGGCGGTGGGATAGAGGAAAGGGGAGCTTGGATCACTGCGAGGACCGTGGGGGAGAGGGGAACTGGGGTTGCCATCCCAGGCAGGAGCACAGGAGCACAGGATTCAGGGTGCGCCGCGGCTGGAGGGCGTCAGGGTGCCCGCAGGCTTTTTGGACGTCTCTTGAGCTTAGCTCTCGGGGCTCTGGGCGCCTGGAATGCTGCGCGCCAGGGCGCGGTGGGCACCAGGGGCGGGGTGCCCTCTAGGTGCCGCAGTGCGGGGCCGCGCCCGAGCCTGGCCGCACCGGGGTGACGGAGTGGGGTCGCCTCTCAAAGGGTAAATATGAATCTTGCCTTATCTGGCTCCAGCGGGCTCTTCCCTAAATTCACCTTGGAGAAAGATGGATCATGTGAGCGGGACTGAGAGCTTTATGGAGCCAAACTCCCGCAGCTGTAAATCACCCTGTCCTCCTGGGTATAAAGCGCCTGTCCATCTCGGCGTGGGAGAGAGGAGACGCTCGCCGTCCCCTGACCCCCAGCTCAGCGCCGGCTCCAAGCCCAGCCAGGTGGGTGCCCCGGGCCGGAGGGCAGTCGGACTTGGGGAGTGGGGACCTTGGAGGGGTCCAACCGGGTGCTGCCGCTTCTCCTTTCTTCCCATCCAGCGAGAGGGGCAGGTTCCGCATTTTCTCTTCCCCTTTCCCAGCGCTTCCTCCAGCACCCGAAGCCCCAACCCTGCGGGTCAGGAACTCCCTAGTCCCCAAGTCTAGGGATGAGATGGGGGAAGGAGAGCCGTCAGGGTTGACCTGGAGTTTTGTCCGCTCCTCCCCTACAGTGATCCCTCTAGCCTTCTCCAGTCGCCTCCGCCATGTCCGAGGAGCTGGCCCAGGGCCCCAAGGAGAGCCCCCCGGCGCCGCGTGCGGGCCCCAGGGAGGTGTGGAAGAAGGGTGGCCGCCTGCTGTCGGTGCTGCTGGCGGTGAACGTGCTGCTCCTCGCCTGCACGCTCATCAGCGGCGGAGCCTTCAACAAGGTGGCCGTGTACGACACCGACGTGTTCGCGCTGCTCACTGCGATGATGCTGCTGGCAACGCTCTGGATCCTCTTCTACCTCCTCCGAACCGTGCGCTGCCCCTGCGCGGTACCCTACCGGGACGCGCACGCTGGCCCCATCTGGCTCCGAGGTGCCAGGGGAGGTGGGGGCGAGGTAGGGTGGGCACAACAGGGAGCTGCAGGCTAGGGCTCTCGCAGGAGTTGCAGAGTGCAGATTGACAT | CTGAGGGCTGGGAATCTCAGGGGATGAATATTTGATGCCCTGAGAGAAGGGAGTAAATTATTGATGGGGCCCAGCACAGAGCTGGCCCAGAGCGCTGGTGGGCCAGGGCCGCGTCTGGGTCTCTAGGCAGGCGTGGTGGTGAGTGTGGCTGCGTGTGCCGAGTGACCGTAAAAGAGAACAGACCAGTGGGTGGTGTGTGCCGGGCCCCAGCCCCGGGTGAGCGTGTGTGAAGTGTGGGCTTGCATGTCAGCAGGCAGGGCCCTGTCTGCAGGGAGCAGGGCCAGCCCTGGCAAGCCCGAGTGTGAGAGGAGGTGTCGGGCCTTGGCCTGGGCGGGGAGGGGAGTGTGGGGGCAGCCAGGACTGGAGGGGAGGAGGAGGGAAATCAGCTGCCCGTGCTCCGAAGCCCTCCCTTCCCTAGGTTGCCCCCTCTTTGGTATCCCTGCAAGGCTGGCTCACTTGAGCCTGTCCAGGGACCCCCGACAGCCCCCACAAGCACCCTTCACACCAGACGGGTGTCCCCCAGGGCAAGCTCCCAAGACTCCTCCGGAGCTCTCCCTCCCTTGGGGGCCCAGCACAGCACCCCTGCCCTGCACTAATGAGGCCACAAGGCCAACCCCCAGGGCTGGGGGAAGAATCACTCCCTTGTCTCAACAGCTCCCCACACACCCCTTCCTGGGCCTCCCCTCCTGGCCGCCAAGTCCTGCAGGCCAGTGTGGGAAGGACCTGCCAGCACCCAACCCACAACCCATCAAACACCAATCCTGGTCTCTGGAGGAGTTGGGGCTTGGTGTACCCAAGGGGAGCCCTCTTCCCCTCCTCTCATGAGCCTCTCTGAAGGGATGGCAGGGACAGTGTCACTGTGTGCCCTCCTGGGGTGGGGAAGGGCCAGCCAGCCTTGGCCTCACGGGACATGGTTCAGCTGCCCAGGCTTCAAGGCTGCTCCCACCTGATGCTGGGCCCAAGGAGCAGCCCAAGGAGAGGGCAAGAAGGAGGGGTCTCCAGCACCTACTACATGTTCAGGCACTGGCCAGTACCTGGTACCGGGGCCAGCTAAGCCCCTGGCCCTCTCTCCCATGACCTGAGACTTCATATCAACCTTCCTGGGGTGTCCTGTCCAGGCTGCCCTGATGCCCAGACCAACCTGACTTCTCTTTATAAAGCCACTGGGGCTGAGGGAGTTGGTCACAGTCATTTGACTTTAGCCCCAAGGAACCCATATCAGTGGCTCTGGTCCTGGAGGTGGCTCAACTGCCACCTCCAGGCCCCTTCCCTGGCACTGACACCTGCACTGTATGCCCACCCCCCCACCCAGGACAACTCCAAAGGGAGGGGGAGGGAAGAGAAGCCCCTTCAGGGTGACCACATCACAGCCTCCACCATTGCTTAGCTGTGCCCGGCTGTGGGGGAGGGACTTGGAGAGAGTTAATGGAGTGGCTGAATCAGTGACATTTGGCGCCCTGGACAGTGTCCATAAATCCCCAAAATGAGCAGGTTGAGGGCAAGCGCTGTGTGACACCAGCCTGCCGGAGAACGTGGGTGCTGGCTGGCAGAGCCCTTTGGATCAAGGCTGGAGAGTGGGCAGTGGAGACCCCTCCCTTTCTAGCCCCCACTGCTGGCCCCTCGAGACTTCCTAACCTTCTCTCCGAGTCTCACTATCCCCTCACTCTTGCTTCCAGGGGGACCCCAGCCAGGGGATCTCTCCCACCTTCCCCTCACTCTGCAGCAACCCCCCATAATCAGGAACCCCCAAATCCCGGTTTCTCCCCTCCTAGCCCCAGATCCAGGTCACAAGTGTTAACAAGTGTCAGATGCCTCCGCTTGGGTCCCCTCAACATGTGTCTCTCCCACAAACGCCAGGGTCTAAGGGTCCGCCTGTCTGCAGGGGAAGGAGGCAGCTCAGAGGAGTGGTGGACGAGGAAGTTTGGGGTGGTCTCAGGGGCCTCAAGGGCACTGGGTGGGGCGTACTCACCCGCGGCTCACAATGAGACGCAGCGACTCGAGGTTGCCATGGTAGGCAGCCCAGAGAGTGGGGGTCATGCCATCCTCGTCGGGGGGCATTCAGCTCCTTTCGGGTGGCCTCCTTGAGGAGCTCCAGGTAGCCATCCCGGGCTGCCCGGTGGTACTGGTCGTTCATGGCGCCCGAAGTGGACGGGGCGGGCGGGGGACACGGAGAAAGGCCCCCCGCAGGGGAGGGCGGCGGTATTAGGGCTGAGGCATGAGGTTGGAGGACGGGGCCGGGCAGGGGCCGGGGCCGCCAGCCCCCGCTGCCGCAGACGGAGGGTGCGGAGCGCCAGAGCCGCGACTACCAAGACATCTGAAACGCTCACCCGGGGGCGGGGGCGGAGGGGGCGGGGGACGAAATCTCCCGCTGTCCAGGGAGCCGCCCCCGGTCTTCCCCTGGGTCCTAAACACCCTGCATGCACCTCAATACACGAGGGTGACCCACGCAAGGCCCTGTCCTCCTCTTCAAAAGTGCCCACCCCGGGGCCGCGCACTGTGACGCCCAGTCCGGGGACAGTCAGAGATCTGTCCTCACTAGAGCCTGGGGCGCTGTGGCTCCGTATTTCTCCACCTGTCAGTGGAACGAACCGAGAGCTGGGGAGGGGTGCCGGAGGGCGGGGTGGGGGAGCCGTCCTGAGCCCCAGGACAGTGGACCTAAGAAGGGGCACCGTGACCGACCGCGGTTCGGTCAGCGAGTGGGACGGGCCAGGCCGCCGCCGCCTGAACGGAGTCCCTCGACCGCACTCCAGCAGGGGGCGCTGGAGGACTGGCAGCGGCTCCGCGTGCCGCGTGGAACTTCGCACCCAAGCCCCGGAGTCCAACGGAGCGCGGGCCGGCGGCGGGGGCGGGCAGGGCGGTGGGATAGAGGAAAGGGGAGCTTGGATCACTGCGAGGACCGTGGGGGAGAGGGGAACTGGGGTTGCCATCCCAGGCAGGAGCACAGGAGCACAGGATTCAGGGTGCGCCGCGGCTGGAGGGCGTCAGGGTGCCCGCAGGCTTTTTGGACGTCTCTTGAGCTTAGCTCTCGGGGCTCTGGGCGCCTGGAATGCTGCGCGCCAGGGCGCGGTGGGCACCAGGGGCGGGGTGCCCTCTAGGTGCCGCAGTGCGGGGCCGCGCCCGAGCCTGGCCGCACCGGGGTGACGGAGTGGGGTCGCCTCTCAAAGGGTAAATATGAATCTTGCCTTATCTGGCTCCAGCGGGCTCTTCCCTAAATTCACCTTGGAGAAAGATGGATCATGTGAGCGGGACTGAGAGCTTTATGGAGCCAAACTCCCGCAGCTGTAAATCACCCTGTCCTCCTGGGTATAAAGCGCCTGTCCATCTCGGCGTGGGAGAGAGGAGACGCTCGCCGTCCCCTGACCCCCAGCTCAGCGCCGGCTCCAAGCCCAGCCAGGTGGGTGCCCCGGGCCGGAGGGCAGTCGGACTTGGGGAGTGGGGACCTTGGAGGGGTCCAACCGGGTGCTGCCGCTTCTCCTTTCTTCCCATCCAGCGAGAGGGGCAGGTTCCGCATTTTCTCTTCCCCTTTCCCAGCGCTTCCTCCAGCACCCGAAGCCCCAACCCTGCGGGTCAGGAACTCCCTAGTCCCCAAGTCTAGGGATGAGATGGGGGAAGGAGAGCCGTCAGGGTTGACCTGGAGTTTTGTCCGCTCCTCCCCTACAGTGATCCCTCTAGCCTTCTCCAGTCGCCTCCGCCATGTCCGAGGAGCTGGCCCAGGGCCCCAAGGAGAGCCCCCCGGCGCCGCGTGCGGGCCCCAGGGAGGTGTGGAAGAAGGGTGGCCGCCTGCTGTCGGTGCTGCTGGCGGTGAACGTGCTGCTCCTCGCCTGCACGCTCATCAGCGGCGGAGCCTTCAACAAGGTGGCCGTGTACGACACCGACGTGTTCGCGCTGCTCACTGCGATGATGCTGCTGGCAACGCTCTGGATCCTCTTCTACCTCCTCCGAACCGTGCGCTGCCCCTGCGCGGTACCCTACCGGGACGCGCACGCTGGCCCCATCTGGCTCCGAGGTGCCAGGGGAGGTGGGGGCGAGGTAGGGTGGGCACAACAGGGAGCTGCAGGCTAGGGCTCTCGCAGGAGTTGCAGAGTGCAGATTGACA | pathogenic | 283,725 |
Gene MRPS7 (mitochondrial ribosomal protein S7) variant at chromosome 17, position 75262483—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | benign | AAAGAAGCCTTATGACCTGCCTGCAACTGCAGATTTTGCAAACGTGATCTTACTTTTTCTCTCTTTTGGGATATGCTCCCCTTTAAACTGAAGCTCAACCTCCTGAAGGGGGTTTCTTACTAGGAAAAATCAGACAATTTGAGGAAATAGCTATCACCTCCAAGATCCCGGAAGCAGTACTAAATAAGAGACCTCAGAACAAGGCAATACTAGGTATCTCACCTATCCCATTACCAGTCCAATTTCTCTCTCCACTTAAAGGAGGCTTCCAGGTCTAGCCTACAGGAAAGTTCACTTATTAACCCTCAGGCAGAGTACTACCTGCTAACCAGGTTAACACACATTTCCTTCGTAGCACTGTAATTCACAGTGCAATGACAGCAATACGCTTCTATAACTACAGCTTCAGACTGTGCTCCTCAGCCTTACTCAGAATAGGCTATCAACACTGACTCGTTAGGATATTCAAGGGGGTATATGTATGTGTGTGGGGGGGGAATTCCCGACACCGATTTCACCATGCTTCTGTGGTCACTGCAGGAAAAAGGTAGAGCTCTCTGTTCTCTATCATCGCTCTCTTTGGAATATTATTCTCACTTCAAGCATTCTGCCTGAGCGAAGCCGTCACTTCTCCAACACATGGTCACAATTCTGAAGCTGCCAGGCGACTGAACGCAGTCGGCAGCACCCACCACTACCGGAGACTCAGCCCCAATCCGAAGCTTCTCCCTTAGTCAGGGATTGGGGCGCTGGGTTCCTGGTGTCACCGCCGGGCGGCGACCCCACCACAATCTCCCCAAAGCGCCGAAGCATGTCAGCCCGAAGATCTTGGCTGTCGCCTTTCCCCGAGCCTGCGGTGCCCGACAGGAGCCCGAGTTCACGCCGCCGCGCGCCAGAGCAAGAGGACGCGCCGCAGCGAGGGAAGCGGGGGCCGGACTGGGGCCCGGCGCCCTGATAGGGAAGGGGCGTGATCGCAGGCTGCTCGCGGCGAGGGCGAGACCGGGCGTGGGCTGCCAAGAGGCGACGCCGTGGAGCCCGGGGAGGGGACGTGGGGGTGAAGACAGGGGCAGCCCAGCGGCTCGAGGGCAGGCAGAAACGGCCGCGGCTACTCACTGAGCCAGGACTCCAGGCTTTCCCCTTCCGCCTCCGCCATATTGCAGCCGCCCGGCCCCGCGGCTTCAAAACTCGCGAGAGTCTGCACGAGCTGAGACGGGGCGGGGCCTGCATGGGGTCCTGAGAGGAGTGAGTGCCGTCACCGAGGGCCGCGCCAGACTGCGACGGATACAGGGAGGGCAAGGGTTTCCTTTTGGCGCTCCCCTTTGGACCCCGGAGTGAAAAACTCTAACGTCCAGATCAGTGGAGAGAAACGCAGATTTAGGACCCTGAGGAGTCTTTTTCACCCGTTTCCCGTCACTCGCTCAGGCGCGCCGAGGGCAGTCCTTGTGGGGTCCTCGTGGCCAGCCAAGATGGCTGCCCCCGCAGTGAAGGTTGCCCGAGGATGGTCGGGCCTGGCGTTGGGCGTGCGGCGGGCTGTCTTGCAGCTTCCAGGGTGAGAGGGTGGCGAGCAGCGGCGGGGGGGCGCTGCGAGGAAGGAAGGGGGCCACAGGCAGGCCGCGTGGGCCCCTAGAGAGAGCATTGCCCTGGGGGCCGGAGTATCTGGATTCAAGCTTCTAAGTTAGCTGCGTGACCCTGCGCCAATCCGAAGGTTTAGTGACTACCTCTCGCCTAAGGAGTCTGGCTGATCTAGGGTTCTAACGCGGAGCTGAAAGTGCGGTTCAGCTAAAGAGCTCAGATCTGGGATCGCCTGTGAATTGGGATGGGTGTGTAGGCGCCAAGCCCATCCTTACCGTTAGCACTTGACCAGGAGGAGACTTTACCCGCCTGCTTGGGGAATGTCCTCCTACTTGGGACAAGGGCCTGAATTGTTGTGGCTCAGGTTTAGCTCGCGGTCTCCGCGCCGCTCCCCCTCGTCGGCGCGTTGGCAGTCATGCCTATTGTTAAGTCAAACCTACTCGCTTGTGGAGTCAGCTTTTGCCTGCCTCCTCCTTTCCCCCCCTCCCAGGCTAACTCAGGTGAGATGGAGCCGCTATAGTCCTGAATTCAAGGATCCCTTGATTGACAAGGAATATTATCGCAAGCCAGTGGAGGAGCTAACTGAGGAGGAGAAATATGTTCGGGAGCTCAAGAAGACTCAGCTCATCAAAGCTGCTCCAGCAGGGAAAACAAGTTCTGTGTTTGAAGACCCAGTCATCAGGTTAGATGGAAACAAACACTTGTTACATGGACTGGGACTATCCCAGGGAGGGTTTCTGGTGAGGATTCTGTGATACAGCCTTGGAGAGCTAAACGTGTTGCTTTTCTCTTTGAAGTAAATTCACCAACATGATGATGATAGGAGGAAACAAAGTACTGGCCAGATCCCTCATGATTCAGGTAAACAGCACTTCCCTCCTCAGTCATCTTTCTTGCCCCCCTACCCCGTAGCCTTGTACTTGGTACTTTCAGTGTAGCTTAAGAGCAAATGGATTCATGTATCTATTATTCAGATTAACTTCCCTGCATGTGTACGGGCTTTAATGAAGCCCTGTAAGAGTCAGCAACTGCCATTCCTTGGTGTTTCGGAAGTAAACACACAATTAAAAAAAAAGGAACAAATAAAAAATAAAACAACTGCCATTCCCCACCTCACCCCCCACCCCCTCCATGCCACAAATCTCAATCCACTCTTTCTGTCCTAGTCTAGCAAAGGGGGAGGCACTTAAAAACTTTGTTTTGGATGTGCTGTGAGAGGAGCTGCATTGCCAGCGCAGAACCAGAGGATGGGAGTAAAGGGCAAGGTACTAGCTTGGCTGGGTAAACCCTTTAGGGAGCCTGGGGCAGCCTCTTCCACCATATTCTTTTGCAGACTCTGGAAGCTGTGAAAAGGAAGCAGTTTGAGAAGTACCATGCCGCTTCTGCAGAGGAACAGGCAACCATCGAACGCAACCCCTACACCATCTTCCATCAAGCACTGAAAAACTGTGAGCCTATGATTGGGCTGGTACCCATCCTCAAGGGAGGCCGTTTCTACCAGGTGAATGAATGGCCAGGGCAAGAAAGCAGGGCCCTCCACATGTGAAACAAGATAGGTGGTGCTTGGGAGTTGGGTCAAGATTGATAGCTTTCTAGCTGGTGCAGTGGGATTGCACCTGTAATCTCAGCACTTTGGGAGCCTAATGCAGGATAGCTTGAGCTCAGGAGTTAAGAGACAGCAGGGCAACATAGGGAGATCCCGTCTCTACAAAAAAAACAAAAAAATTAGCCAGGTGTGGTGGTGTGCATCTGTGCTCCCAACTACTCAGGAGGCTGAGGTAGGAGGATCACTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGTTATGATTACGCCCCTGCATTCCAGCCTGGGCAAGAGAGAGAAACCTTGTCTCAGAAAAAAAAAAAAAAAAAACGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATTACCTGAGGTGGGGAGTTCGAGATCAACAAGGAGAAACCCTGTTTCTACTAACAATACAAAATTAGCCAGGTGTGGTGGCACATACCAGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGATGCAGAGGTTGCAGTGAGCCGAGAGCACACCACCGCACTCCAGCCTGGCAACAGAGCAAGACGCCATCTCAAAAAAAAAAAAAAAAAAAGAATTGAGACTGTTACGGTCCACTCATCTGAGTCCTGTAGCGTAAAAATTATAGGCAGAAGGTGGAAGAGAGTGAAGAAGTATCTAAGTGACATCTGGGAGCCCACCTCCCTTCGCCTTCTTCTGTCAAGCATCCTGTGTGTCCTAACCTGTAAAATTCTCATGGCGAGGGACTATTCATATCCTGTCTTTGTATGCCAGTGTTTGGCATAGTGCTTGACCGATAACTGATGCTTCATCAGTGTTTGCTGAACAGTACTAGGTATCTCTTTCATAGCATTTAATTATATTTTATTGTCCTGAGTTTTCTTGTGTTCTCCTTTTTCAATATCAACTCCAT | AAAGAAGCCTTATGACCTGCCTGCAACTGCAGATTTTGCAAACGTGATCTTACTTTTTCTCTCTTTTGGGATATGCTCCCCTTTAAACTGAAGCTCAACCTCCTGAAGGGGGTTTCTTACTAGGAAAAATCAGACAATTTGAGGAAATAGCTATCACCTCCAAGATCCCGGAAGCAGTACTAAATAAGAGACCTCAGAACAAGGCAATACTAGGTATCTCACCTATCCCATTACCAGTCCAATTTCTCTCTCCACTTAAAGGAGGCTTCCAGGTCTAGCCTACAGGAAAGTTCACTTATTAACCCTCAGGCAGAGTACTACCTGCTAACCAGGTTAACACACATTTCCTTCGTAGCACTGTAATTCACAGTGCAATGACAGCAATACGCTTCTATAACTACAGCTTCAGACTGTGCTCCTCAGCCTTACTCAGAATAGGCTATCAACACTGACTCGTTAGGATATTCAAGGGGGTATATGTATGTGTGTGGGGGGGGAATTCCCGACACCGATTTCACCATGCTTCTGTGGTCACTGCAGGAAAAAGGTAGAGCTCTCTGTTCTCTATCATCGCTCTCTTTGGAATATTATTCTCACTTCAAGCATTCTGCCTGAGCGAAGCCGTCACTTCTCCAACACATGGTCACAATTCTGAAGCTGCCAGGCGACTGAACGCAGTCGGCAGCACCCACCACTACCGGAGACTCAGCCCCAATCCGAAGCTTCTCCCTTAGTCAGGGATTGGGGCGCTGGGTTCCTGGTGTCACCGCCGGGCGGCGACCCCACCACAATCTCCCCAAAGCGCCGAAGCATGTCAGCCCGAAGATCTTGGCTGTCGCCTTTCCCCGAGCCTGCGGTGCCCGACAGGAGCCCGAGTTCACGCCGCCGCGCGCCAGAGCAAGAGGACGCGCCGCAGCGAGGGAAGCGGGGGCCGGACTGGGGCCCGGCGCCCTGATAGGGAAGGGGCGTGATCGCAGGCTGCTCGCGGCGAGGGCGAGACCGGGCGTGGGCTGCCAAGAGGCGACGCCGTGGAGCCCGGGGAGGGGACGTGGGGGTGAAGACAGGGGCAGCCCAGCGGCTCGAGGGCAGGCAGAAACGGCCGCGGCTACTCACTGAGCCAGGACTCCAGGCTTTCCCCTTCCGCCTCCGCCATATTGCAGCCGCCCGGCCCCGCGGCTTCAAAACTCGCGAGAGTCTGCACGAGCTGAGACGGGGCGGGGCCTGCATGGGGTCCTGAGAGGAGTGAGTGCCGTCACCGAGGGCCGCGCCAGACTGCGACGGATACAGGGAGGGCAAGGGTTTCCTTTTGGCGCTCCCCTTTGGACCCCGGAGTGAAAAACTCTAACGTCCAGATCAGTGGAGAGAAACGCAGATTTAGGACCCTGAGGAGTCTTTTTCACCCGTTTCCCGTCACTCGCTCAGGCGCGCCGAGGGCAGTCCTTGTGGGGTCCTCGTGGCCAGCCAAGATGGCTGCCCCCGCAGTGAAGGTTGCCCGAGGATGGTCGGGCCTGGCGTTGGGCGTGCGGCGGGCTGTCTTGCAGCTTCCAGGGTGAGAGGGTGGCGAGCAGCGGCGGGGGGGCGCTGCGAGGAAGGAAGGGGGCCACAGGCAGGCCGCGTGGGCCCCTAGAGAGAGCATTGCCCTGGGGGCCGGAGTATCTGGATTCAAGCTTCTAAGTTAGCTGCGTGACCCTGCGCCAATCCGAAGGTTTAGTGACTACCTCTCGCCTAAGGAGTCTGGCTGATCTAGGGTTCTAACGCGGAGCTGAAAGTGCGGTTCAGCTAAAGAGCTCAGATCTGGGATCGCCTGTGAATTGGGATGGGTGTGTAGGCGCCAAGCCCATCCTTACCGTTAGCACTTGACCAGGAGGAGACTTTACCCGCCTGCTTGGGGAATGTCCTCCTACTTGGGACAAGGGCCTGAATTGTTGTGGCTCAGGTTTAGCTCGCGGTCTCCGCGCCGCTCCCCCTCGTCGGCGCGTTGGCAGTCATGCCTATTGTTAAGTCAAACCTACTCGCTTGTGGAGTCAGCTTTTGCCTGCCTCCTCCTTTCCCCCCCCTCCCAGGCTAACTCAGGTGAGATGGAGCCGCTATAGTCCTGAATTCAAGGATCCCTTGATTGACAAGGAATATTATCGCAAGCCAGTGGAGGAGCTAACTGAGGAGGAGAAATATGTTCGGGAGCTCAAGAAGACTCAGCTCATCAAAGCTGCTCCAGCAGGGAAAACAAGTTCTGTGTTTGAAGACCCAGTCATCAGGTTAGATGGAAACAAACACTTGTTACATGGACTGGGACTATCCCAGGGAGGGTTTCTGGTGAGGATTCTGTGATACAGCCTTGGAGAGCTAAACGTGTTGCTTTTCTCTTTGAAGTAAATTCACCAACATGATGATGATAGGAGGAAACAAAGTACTGGCCAGATCCCTCATGATTCAGGTAAACAGCACTTCCCTCCTCAGTCATCTTTCTTGCCCCCCTACCCCGTAGCCTTGTACTTGGTACTTTCAGTGTAGCTTAAGAGCAAATGGATTCATGTATCTATTATTCAGATTAACTTCCCTGCATGTGTACGGGCTTTAATGAAGCCCTGTAAGAGTCAGCAACTGCCATTCCTTGGTGTTTCGGAAGTAAACACACAATTAAAAAAAAAGGAACAAATAAAAAATAAAACAACTGCCATTCCCCACCTCACCCCCCACCCCCTCCATGCCACAAATCTCAATCCACTCTTTCTGTCCTAGTCTAGCAAAGGGGGAGGCACTTAAAAACTTTGTTTTGGATGTGCTGTGAGAGGAGCTGCATTGCCAGCGCAGAACCAGAGGATGGGAGTAAAGGGCAAGGTACTAGCTTGGCTGGGTAAACCCTTTAGGGAGCCTGGGGCAGCCTCTTCCACCATATTCTTTTGCAGACTCTGGAAGCTGTGAAAAGGAAGCAGTTTGAGAAGTACCATGCCGCTTCTGCAGAGGAACAGGCAACCATCGAACGCAACCCCTACACCATCTTCCATCAAGCACTGAAAAACTGTGAGCCTATGATTGGGCTGGTACCCATCCTCAAGGGAGGCCGTTTCTACCAGGTGAATGAATGGCCAGGGCAAGAAAGCAGGGCCCTCCACATGTGAAACAAGATAGGTGGTGCTTGGGAGTTGGGTCAAGATTGATAGCTTTCTAGCTGGTGCAGTGGGATTGCACCTGTAATCTCAGCACTTTGGGAGCCTAATGCAGGATAGCTTGAGCTCAGGAGTTAAGAGACAGCAGGGCAACATAGGGAGATCCCGTCTCTACAAAAAAAACAAAAAAATTAGCCAGGTGTGGTGGTGTGCATCTGTGCTCCCAACTACTCAGGAGGCTGAGGTAGGAGGATCACTTGAGTCCAGGAGGTCAAGGCTGCAGTGAGTTATGATTACGCCCCTGCATTCCAGCCTGGGCAAGAGAGAGAAACCTTGTCTCAGAAAAAAAAAAAAAAAAAACGGCTGGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGATGGATTACCTGAGGTGGGGAGTTCGAGATCAACAAGGAGAAACCCTGTTTCTACTAACAATACAAAATTAGCCAGGTGTGGTGGCACATACCAGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGATGCAGAGGTTGCAGTGAGCCGAGAGCACACCACCGCACTCCAGCCTGGCAACAGAGCAAGACGCCATCTCAAAAAAAAAAAAAAAAAAAGAATTGAGACTGTTACGGTCCACTCATCTGAGTCCTGTAGCGTAAAAATTATAGGCAGAAGGTGGAAGAGAGTGAAGAAGTATCTAAGTGACATCTGGGAGCCCACCTCCCTTCGCCTTCTTCTGTCAAGCATCCTGTGTGTCCTAACCTGTAAAATTCTCATGGCGAGGGACTATTCATATCCTGTCTTTGTATGCCAGTGTTTGGCATAGTGCTTGACCGATAACTGATGCTTCATCAGTGTTTGCTGAACAGTACTAGGTATCTCTTTCATAGCATTTAATTATATTTTATTGTCCTGAGTTTTCTTGTGTTCTCCTTTTTCAATATCAACTCCA | benign | 283,762 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 75491324, gene TMEM94 (transmembrane protein 94): what disease(s) if pathogenic? | pathogenic; ['Intellectual_developmental_disorder_with_cardiac_defects_and_dysmorphic_facies', 'Rare_syndromic_intellectual_disability'] | GACATGGCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATGCTACACTATGCTGTGCCCGTGGTCCTGGTGCGTGTGGCGGGGCTGTGCGGGGCTGCATGGGGCAGAGGAGAGGGCTGGACACGGGGGGGTCTCAGGGCCACTCACATGAGCGGGAGTGAATGCAGAGGGTCCCAGAGTGAGCCAGCCTGTGGAGTAGCAAAGGAAGGGGAACGGCAGTGCCTGGGTCCCTCTAGAGGGGCGGGGTCAAGGCTGTGCCTCTGCTGTTCCCAACAGGCCGGCTTCCTCATCACCAATGCCCTGCGCTTCATCTTCAGTGCCCCGGGGGTCACTTCCTGGCAGTACACCCTCCTCCAGCTCCAGGCAAGGACCACCCTGTCCTCTCTGTCATGCTTCCCTCCGACCCGCAGGGCTGGCTCTTCTCCTAGTACCCTGGCTGTCCCTCCCTCTCTGCAGCCCAGAGGTCCCCTCACGCTTCAGCTTAAGAACACCTCTTTCCAGCTGGGCGTGGGGACTCAGGCCTGTAATCCAAGCACTTTGGGAGGCCACGGCAGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAGAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTGGTCCCAGCCATTCAGGTGGCTGAGGTGGGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGCGACGGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGAACACCTCTTTCCCTTCCTGCCCCTGAGAGAGCTGGCCCTTCCTGCCCAGGGAATGGCCGTGGGGCCAGGGCAGCCCTTCCCTTCCCTCCTCCCCAGGCCCGGAGCTCAGGAGCCATCTGTGTGGTCCGCTCCTTCCCAGGTGAATGGCGTCCTGCCCATCCTCCCCCTGCTCTTTCCAGTCCTCTGGGTTCTGGCAACTGCCTGTGGAGAGGCCCGTGTCCTGGCCCAGATGAGCAAGGCCTCACCCAGCTCCCTGGTAGGTTTTTCCAAGGTGTCTGGGGGAAGTCACAGGAACAAAAAGAGGGAGCTGGCTGTGCCAGAGGACGGGGGCAGAAGTCCAGCCCCACCTTGGGCTCGGCATGTTGGTCAGCCTGGGCAGCTCTCCAGGCCTCGGGCCCTCTCCATTCCAGAAGGGCCTCCAGGCCAGGCCCTGGGTGTGAGTGAGCGTCTGCCCTGGCTTCCACCAGGTGGGGAGTCAGAACGGCCTGGGCCCTTTACCAAAGGGGTTGGGAGCCCCGCTGGTGTGGGCCCCCCCTCTGCCAGCTTGGAGAGGCCTGTGTGAAGGCGGCGTTTTCCTCACTGAGGACCTCACCCTCTCTCCGTGCAGCTGGCTAAGTTCTCAGAGGATACTCTCAGCAGCTATACGGAGGCTGTCTCCTCTCAGGTACAACACTGACCCGGGATGGCTTCTCTCGCAGGTCCCTAGAGCCATAACCCTGGGACTCCCCTATTTATGGCCTTAAAGCCTCCAACCAGGCTCTTAGAGCCCCATGTCCACCCGTTACATGTGGACATAACCTGGACCTGTTCCCATAACGTGTCCACACCCTGTCCCAGAGAAGTGCCTCTCCACCCCAACTTCGTGGTGCTCCCCTGGATTTTCCCCTAGAGGCCGTCTCCAGGGAAATGAGGCTGAGCCCTAAATGGCCTTGCAGACTTCCTCTCTCCCACCAGGAAATGCTGCGCTGCATTTGGGGCCACTTCCTGAGGGTGCTCGGGGGGACATCGCCAACGCTGAGCCACAGTTCCAGCCTGCTGCACAGCCTGGGCTCTGTCACGGTGAGGGTGGGCCTTGCGGGGAGGAGGCAACTGTCATGCCCGCCCTGCTCTCTGGCTGGGCCTGGGCTGCCCACCTGCCGCTTGAGTGGCCCCTGGGCAGGATAGGCTAATGCCAGGCCCCTTTCCTATCTCAAATGCTTTCCATGCAGGTCCTGTGCTGTGTGGACAAACAGGGGATCCTGTCATGGCCAAATCCCAGCCCAGAGACTGTACTGTTCTTCAGCGGGAAGGTGGAGCCCCCTCACAGCAGCCATGAGGACCTCACCGATGGCCTATCCACCCGCTCCTTCTGCCATCCCGAGGTAGAGGAGGAGGTACGGCCGGCTCCCATGGGCCCGACTCTGGGCCAGGCTGTTTAGCCTTGGAGCCTGGCCAGGGAGGGTGAGGTTTCGGAGGGCGAAGGAGGGTTTGGGCACCATTAGGATCTGCTTCTGGGCAGGTGAGGTGAAGACAAGGCAGCCAGGGGACCTAGAAGCATCCTGCCTCCCCAGGCCATGGGAGCCACTGGTCCTAGCCTGTGCTCCTCATTCTCTTCAGCCCCATGAACGAGACGCCCTCCTGGCTGGCTCCCTGAACAACACCCTGCACCTTTCCAATGAGCAGGAGCGTGGCGACTGGCCTGGCGAGGCTCCCAAGCCCCCCGAGCCCTATTCACACCACAAAGCGCATGGCCGCAGCAAACACCCATCTGGCTCCAACGTGAGCTTCAGCAGGGACACCGAGGGTGGTGAAGAAGAGCCCAGCAAGGTGACGGGAGGGGGTGGCACGGGGCAGCCACACCCTCGGCCACAGGCTGTCCTGGCCTCCCTGGCCAGCCTGGCCTCACAAGGTCTGAAAGAGCAGGCGTCTCTGCCCTCTGTCCCAGCACCTCCAGGCTAGGCCAGTGGTCCCTGAGGCCCTCCCCAAGTCTGCTGCGAAGTAGGTGGAGCCTCCCCCTACCCTTCCATTCTTGTAATCGCAATCACTGGTGTCCCTACTGGAACCTTCCAAATATACACAGCCCGGAGCTCCCTCTTAGAGATGTTCCCTGGCCACAGAAGATCCCTCAACTGTGTCCTCTTTGGTCTGGCCACCCCTCTTTTTAGCTCCTGCCAGTGTCATGAGATATATTAATAGTCCATAGAAGCAGACAGGAGCCCAAGAAGGACAGGAAGCGGATTTCAGGAGGGAGCGGGTGGAAGAGGGTGAGCAGCAGCTCTCTCCTGGGAAGGGTGCCTTTCAGGGGCAGGAGCCCTCCCCAGCCTTGGGAGGTGGGCAGAGCCAGTGCTGGCTTCCCCACACCCTATCCCGGGCTGAGGCTCTCCTCCACATTTCCCCCAGACCCAGCCTGGGATGGAGAGCGACCCCTACGAAGCAGAGGACTTTGTGTGTGACTACCACCTGGAGATGCTGAGCCTGTCCCAGGACCAGCAGAACCCCTCCTGCATCCAGTTTGATGACTCCAACTGGCAGCTGCACCTCACCTCCCTCAAACCCCTGGGCCTCAATGTGCTGCTGAACCTGTGTGATGCCAGCGTCACCGAGCGCCTGTGCCGATTCTCCGACCACCTGTGCAACATCGCCCTGCAAGAGAGCCACAGCGCCGTGCTGCCCGTCCATGTGCCCTGGGGCCTCTGCGAGCTTGCCCGCCTCATTGGTACAGGTCCCCATGGCAGGGGATGGCTGGCTGGACCCGCCTCCTAGAAGAGGCCCAGTACCAACTCCTCACGGGACTTAATGGACCTGGCAGGGTATTGCCAGGGCATGGCCCTAAGTTCCTGTTCCCCGCCCTGCAGGCTTCACTCCTGGGGCCAAGGAGCTTTTCAAGCAGGAGAACCATCTGGCGCTGTACCGCCTCCCCAGTGCCGAGACAATGAAGGAGACATCGCTGGGGCGGCTCTCCTGTGTCACCAAGCGGCGGCCTCCCCTCAGCCACATGATCAGCCTCTTCATTAAAGACACCACCACCAGTGAGCCCTGGCTACGTTGGCCAGCACCAGGCGAGACCTTCCAGAGCTTGGCAGGGGGGCTCTGCCCAGCCCCACCCATTGCTAGGGAGGCCTGGGCAGATGAAAAGTAGACTGCTTCCAAGTGTTCCACTCTGGCAGGGCTGGAATTGGGGACCAGGGCTGGGATGGTGTTGGCTGCAGAGGCCGGGATTGTCCAAAGGATGGGAATATGGTGTCTGCATTCCAAGCCCAGTGGCATTGCAGAGCCTTGCTGTCCGTGAGTCCCAGGG | GACATGGCCCTGTCCCGACCAGTCACTGCCCTGGACAATGAGCGGTTCACAGTGCAGTCGGTGATGCTACACTATGCTGTGCCCGTGGTCCTGGTGCGTGTGGCGGGGCTGTGCGGGGCTGCATGGGGCAGAGGAGAGGGCTGGACACGGGGGGGTCTCAGGGCCACTCACATGAGCGGGAGTGAATGCAGAGGGTCCCAGAGTGAGCCAGCCTGTGGAGTAGCAAAGGAAGGGGAACGGCAGTGCCTGGGTCCCTCTAGAGGGGCGGGGTCAAGGCTGTGCCTCTGCTGTTCCCAACAGGCCGGCTTCCTCATCACCAATGCCCTGCGCTTCATCTTCAGTGCCCCGGGGGTCACTTCCTGGCAGTACACCCTCCTCCAGCTCCAGGCAAGGACCACCCTGTCCTCTCTGTCATGCTTCCCTCCGACCCGCAGGGCTGGCTCTTCTCCTAGTACCCTGGCTGTCCCTCCCTCTCTGCAGCCCAGAGGTCCCCTCACGCTTCAGCTTAAGAACACCTCTTTCCAGCTGGGCGTGGGGACTCAGGCCTGTAATCCAAGCACTTTGGGAGGCCACGGCAGGCAGATCATGAGGTCAAGAGATCGAGACCATCCTGGCCAATATGGTGAAACCCCGTCTCTACTAAGAATATAAAAATTAGCTGGGCGTGGTGGCACGTGCCTGTGGTCCCAGCCATTCAGGTGGCTGAGGTGGGAGAATCCCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCCCTCCAGCCTGGCGACGGAGCAAGACTCCGTCTCAAAAAAAAAAAAAAAGAACACCTCTTTCCCTTCCTGCCCCTGAGAGAGCTGGCCCTTCCTGCCCAGGGAATGGCCGTGGGGCCAGGGCAGCCCTTCCCTTCCCTCCTCCCCAGGCCCGGAGCTCAGGAGCCATCTGTGTGGTCCGCTCCTTCCCAGGTGAATGGCGTCCTGCCCATCCTCCCCCTGCTCTTTCCAGTCCTCTGGGTTCTGGCAACTGCCTGTGGAGAGGCCCGTGTCCTGGCCCAGATGAGCAAGGCCTCACCCAGCTCCCTGGTAGGTTTTTCCAAGGTGTCTGGGGGAAGTCACAGGAACAAAAAGAGGGAGCTGGCTGTGCCAGAGGACGGGGGCAGAAGTCCAGCCCCACCTTGGGCTCGGCATGTTGGTCAGCCTGGGCAGCTCTCCAGGCCTCGGGCCCTCTCCATTCCAGAAGGGCCTCCAGGCCAGGCCCTGGGTGTGAGTGAGCGTCTGCCCTGGCTTCCACCAGGTGGGGAGTCAGAACGGCCTGGGCCCTTTACCAAAGGGGTTGGGAGCCCCGCTGGTGTGGGCCCCCCCTCTGCCAGCTTGGAGAGGCCTGTGTGAAGGCGGCGTTTTCCTCACTGAGGACCTCACCCTCTCTCCGTGCAGCTGGCTAAGTTCTCAGAGGATACTCTCAGCAGCTATACGGAGGCTGTCTCCTCTCAGGTACAACACTGACCCGGGATGGCTTCTCTCGCAGGTCCCTAGAGCCATAACCCTGGGACTCCCCTATTTATGGCCTTAAAGCCTCCAACCAGGCTCTTAGAGCCCCATGTCCACCCGTTACATGTGGACATAACCTGGACCTGTTCCCATAACGTGTCCACACCCTGTCCCAGAGAAGTGCCTCTCCACCCCAACTTCGTGGTGCTCCCCTGGATTTTCCCCTAGAGGCCGTCTCCAGGGAAATGAGGCTGAGCCCTAAATGGCCTTGCAGACTTCCTCTCTCCCACCAGGAAATGCTGCGCTGCATTTGGGGCCACTTCCTGAGGGTGCTCGGGGGGACATCGCCAACGCTGAGCCACAGTTCCAGCCTGCTGCACAGCCTGGGCTCTGTCACGGTGAGGGTGGGCCTTGCGGGGAGGAGGCAACTGTCATGCCCGCCCTGCTCTCTGGCTGGGCCTGGGCTGCCCACCTGCCGCTTGAGTGGCCCCTGGGCAGGATAGGCTAATGCCAGGCCCCTTTCCTATCTCAAATGCTTTCCATGCAGGTCCTGTGCTGTGTGGACAAACGGGATCCTGTCATGGCCAAATCCCAGCCCAGAGACTGTACTGTTCTTCAGCGGGAAGGTGGAGCCCCCTCACAGCAGCCATGAGGACCTCACCGATGGCCTATCCACCCGCTCCTTCTGCCATCCCGAGGTAGAGGAGGAGGTACGGCCGGCTCCCATGGGCCCGACTCTGGGCCAGGCTGTTTAGCCTTGGAGCCTGGCCAGGGAGGGTGAGGTTTCGGAGGGCGAAGGAGGGTTTGGGCACCATTAGGATCTGCTTCTGGGCAGGTGAGGTGAAGACAAGGCAGCCAGGGGACCTAGAAGCATCCTGCCTCCCCAGGCCATGGGAGCCACTGGTCCTAGCCTGTGCTCCTCATTCTCTTCAGCCCCATGAACGAGACGCCCTCCTGGCTGGCTCCCTGAACAACACCCTGCACCTTTCCAATGAGCAGGAGCGTGGCGACTGGCCTGGCGAGGCTCCCAAGCCCCCCGAGCCCTATTCACACCACAAAGCGCATGGCCGCAGCAAACACCCATCTGGCTCCAACGTGAGCTTCAGCAGGGACACCGAGGGTGGTGAAGAAGAGCCCAGCAAGGTGACGGGAGGGGGTGGCACGGGGCAGCCACACCCTCGGCCACAGGCTGTCCTGGCCTCCCTGGCCAGCCTGGCCTCACAAGGTCTGAAAGAGCAGGCGTCTCTGCCCTCTGTCCCAGCACCTCCAGGCTAGGCCAGTGGTCCCTGAGGCCCTCCCCAAGTCTGCTGCGAAGTAGGTGGAGCCTCCCCCTACCCTTCCATTCTTGTAATCGCAATCACTGGTGTCCCTACTGGAACCTTCCAAATATACACAGCCCGGAGCTCCCTCTTAGAGATGTTCCCTGGCCACAGAAGATCCCTCAACTGTGTCCTCTTTGGTCTGGCCACCCCTCTTTTTAGCTCCTGCCAGTGTCATGAGATATATTAATAGTCCATAGAAGCAGACAGGAGCCCAAGAAGGACAGGAAGCGGATTTCAGGAGGGAGCGGGTGGAAGAGGGTGAGCAGCAGCTCTCTCCTGGGAAGGGTGCCTTTCAGGGGCAGGAGCCCTCCCCAGCCTTGGGAGGTGGGCAGAGCCAGTGCTGGCTTCCCCACACCCTATCCCGGGCTGAGGCTCTCCTCCACATTTCCCCCAGACCCAGCCTGGGATGGAGAGCGACCCCTACGAAGCAGAGGACTTTGTGTGTGACTACCACCTGGAGATGCTGAGCCTGTCCCAGGACCAGCAGAACCCCTCCTGCATCCAGTTTGATGACTCCAACTGGCAGCTGCACCTCACCTCCCTCAAACCCCTGGGCCTCAATGTGCTGCTGAACCTGTGTGATGCCAGCGTCACCGAGCGCCTGTGCCGATTCTCCGACCACCTGTGCAACATCGCCCTGCAAGAGAGCCACAGCGCCGTGCTGCCCGTCCATGTGCCCTGGGGCCTCTGCGAGCTTGCCCGCCTCATTGGTACAGGTCCCCATGGCAGGGGATGGCTGGCTGGACCCGCCTCCTAGAAGAGGCCCAGTACCAACTCCTCACGGGACTTAATGGACCTGGCAGGGTATTGCCAGGGCATGGCCCTAAGTTCCTGTTCCCCGCCCTGCAGGCTTCACTCCTGGGGCCAAGGAGCTTTTCAAGCAGGAGAACCATCTGGCGCTGTACCGCCTCCCCAGTGCCGAGACAATGAAGGAGACATCGCTGGGGCGGCTCTCCTGTGTCACCAAGCGGCGGCCTCCCCTCAGCCACATGATCAGCCTCTTCATTAAAGACACCACCACCAGTGAGCCCTGGCTACGTTGGCCAGCACCAGGCGAGACCTTCCAGAGCTTGGCAGGGGGGCTCTGCCCAGCCCCACCCATTGCTAGGGAGGCCTGGGCAGATGAAAAGTAGACTGCTTCCAAGTGTTCCACTCTGGCAGGGCTGGAATTGGGGACCAGGGCTGGGATGGTGTTGGCTGCAGAGGCCGGGATTGTCCAAAGGATGGGAATATGGTGTCTGCATTCCAAGCCCAGTGGCATTGCAGAGCCTTGCTGTCCGTGAGTCCCAGGGNN | pathogenic | 283,806 |
Is the genetic mutation found on chromosome 17 at position 75517101, within the gene TSEN54 (tRNA splicing endonuclease subunit 54), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CAAGCCCAACCCAGGGGCACTCCCACGCGGAGCCCGCGGCCGACACGGGCGGAGGGCGCCCTTGGCAGTGCCTGGGGTCGGGCTGGCTCCCCCGCCCCCCGGAATGTCCCTCCAGCGCCTCGCAACCCCCCAGCCCAGCCCAGCCCAGCCCAGGCCCACCGGGGAACAAAGCGGCGGGAGAAGCCGGGCGGGCCAAGCGCCCGAGGTATAAACGCGGAGGATGGAAAAAGGGGCGCGAGGAGGACGGAAGGAGCGGGGAGATGGAGGTGCCCGCCGACCCCGCAAGAAAAGTTAGTTTGCGCCCGCCCCCAGGGGCGCTGACCCCCAGCGCGGGCCCCGCAGCCTCACCTCTCCCGGCCGCCCGCCGGGGTCCGGCTGGCCCTGCTCGGTCCCTGGCACTCAGGACGGTGGCTCCCACTCCCCCCTGCCCCCCTTTCTCCTTCTCCTTTTCCAAGGCCGGCTCGGCGCCTCCCGCAGGAAATCCCGCCCCTCCCCCCTCCCTCCCGCCGGATCGGGAACGGAGGGACCGTCCCGGCCGCGCAGTCAGGCTGTCAGTCAGCACCGGCGGCTCCGCCCCCATCCGCGCCAGATCCCGCCCCAACTCGTGCCCGCCCGGACCGGGGGCGCTGACCGGATCAGCGCATGCGCCCAGGTGAAACGGAGGGGCGGGGGGCGCGGGGGCAGAGGTGACCTGGGGCTCTGGACTTAGACCCAAGGGCTAGACACCCCGGGTCTGACTGGTGGGAGAGAAGACGTAATGTGAAGGGGGTTGGCAACCAAGACGCGGGACCCCACTTGCAGTACCCCCCGTCTGCGGCCGGCGTCGCCCACCCGCAGCCGCCGGCCGGGCAATGGCACCACCTAGCGGACGGCACCAGTGCGGGGACCCCAGCCTCGAGGAGGCGCTCGTGCCGGGCGGAGGTGGCGCTTCAGCACCGTCGTGGGCCGGACAGCGCCTCCCGCCCCCGGCCCTCGAAACCTGGCTTCGGAGCCCAGCCGTAGGGACCGGACGGAAGACACCGAAGGAATGGCGAACCTCCCCGGACCGCTCCTGACAGTTCCCGGGTGGCCTTCGGCCTGCAAAGTCGGAATTTGCACACCCTCCGCTCGTCCTTCCCTGAGCCCTTCTGCCCTCCTTGCCCAGCCCGGGCGGTGGGGACTAAGCAGCGCGAGGCTGCAGAGGGGCGGTCACAAGTGTGACCATTCGCACTGCACTCCAGACGCCGGCTCCTCAGGCTTTACTGGAGAGAAGCCCCGAGGAGGGCTAGGGGCAAAAGAGGGGCCTTCTGCATCTCCAGCAACCTGCGGGCTGAGCTCCCAGACCCGGCGTCGGGGTGCGCTTCCGGGCGGGCGCTAGGACCGGGGACAATCAGGAGGGCGCAGAGCGGGCTGGGGCGGTGCAGGGGGCGGGGCTGCCGCGGCATTGCGGATCGGCGGGCACTAGGGCAGCGCGGAGCTCCGGCGGTGGGCGGGGCGTGGCGGCGCGCGCAGCGGCAGGCGGCGGCGGGATGGAGCCCGAGCCCGAGCCCGCGGCCGTGGAGGTTCCCGCGGGGCGCGTGCTCAGGTGCGGCGCGGCCCGGCCGGAGTGGGTGTCGGGGGCGCGGGGCCAGCGCGGGTAGGGAAACCGGCGCCCGGGACCCGGCCAGGCGGCCCCCGATGCGCGGCGCTGACCCCGCGTCCCCTTCTCCCCCAGCGCCCGGGAGCTCTTCGCCGCCCGCTCGCGGTCGCAGAAGCTGCCCCAGCGCTCGCATGGCCCCAAGGACTTTCTGCCCGACGGCTCGGCAGCTCAGGCCGAGCGGCTGCGCCGGTGCCGGGAAGAGCTCTGGCAGCTGCTGGCAGAGCAGCGCGTGGAGCGCCTGTGAGAGGGGCGGGCCCAGGGGTAAGGGAAGCGGGGGCGAGGCGGGCCGCGGGGTCTCCGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAGAGGGCTTCGTGGAGTTGAAGTCTCCCGCGGTGAGCGGCGGGCTCGGGGACCGGGGACCGCCCTCCCTGCCCTCCCTGCCCTCCCTCCCTTGTGACACTTGCTCTGGGCCCCACACAGGGCAAATTCTGGCAGACCATGGGCTTCTCAGAGCAGGGCCGGCAGCGCCTTCACCCGGAAGAGGCCTTGTATCTTCTGGAGTGTGTAAGTGGGGCCCGGGAGGTGGGGAAGGAGTTGGGACCAAAGAACGGGAAGGACACGTTTTATCGGAGAAAAAGCACACACAACCCGGTCTTTAGAGAACTGATAACCAAACTTCTAAAGCAGGAGGTGGTACGTTGCAGGGAGCAGGGATTCCAGTCCACATTAGTGATGCTGCCCCACTTTCCTGGTTGGCCACATTCTTGATGCGCTGCTGAGAGGGGGAGGGGGAGGTATCAGAGCTGGGAAGTTGCCCCATTCCTCTGTGGCACTGTAGTGAGGGCTCATAAGCTGAGCTGTTGGCCCCACTTCCAGGGCTCCATCCACCTCTTCCACCAAGACCTGCCACTGTCTATCCAGGAAGCTTACCAGCTGCTGCTGACCGACCACACTGTGACCTTCCTGCAGTACCAGGTATCTGCCACCACCCCGCCTCCGGGAGCCACCCATCCACTGAATCAATGAGTATTGACAAGTACCCATAAGGTGCCAGGCACAGTGTCACATGCTGGGGCTGCAGGGCAGACGAGGGCTATGCTGTCACGAGGCTTACATTGTGGTGGTGGCCTGTTGGCTTCACATAGACCCCAGTGCTGTCAGAAGATAAGGTGGGGGAAGAGAATCCAAAGAGACTGGGCTGTTCATTCAGGTGAGAGAAGCTAGGGGCTTGTCGCAGGTTGGGGGTGGGTAGAGTTGCAGTGAGTGAAAAATAGATGAATCTCAGAAATATTTTGGAGAAAGAATGGATAGGACTGCCAATGGATTGGATGTCAGGATTAAGGAGAGAGAAGAACCCAGGATTACCGCCCATGATTTGGGCATGCACCAGTGGATGAAGGTGCTGTCATTTTCTGAGTGGGAAGAATGAAGAGGAGCAGATTTGGGAGGACAAGACCAGTCGAAAGAACTGTGTCAGATAAGTTAATTTTGAGGAGCTTCTTGGACATCCAAGTGAGTGTAAAGCAGACAGACAATTGGAATCCAAGTCTGGAGTGTGAGGAGAGGTCAAGGCTAGATGTAAATATGGGTGCCATGAGCACATGGATGGTATTTAAACTACTGGGCTGTATGGGAGTGCCATCAGAGTAGAGGGCTGGGTCTGAGCCCTGGGGCTCTCTGTGTAGGTTAGGGGGCAGATAAGAAGCAGAAACAGACCGAGGAGTGTCTGGTGATGCAGGAGAAAAACCAAAGTCGCATCACAGAAGCCAAAAGAAGGTCTTTCAAGGAGGAAGTGGTTAGCTGTGCTAAAGCCTGCTGAGATCAAGCAGGATGGGGGACATTCTTATCTATGTTCCTCTGATATGAATGCAGGGACACAAGGTTGAATATGTGGCTCCCTACCAGAAACTTCCCACCGGCATCTGTGGAGGTGTGGGGCTGGAGAGATGCCCACCACCTGCCATCATTTTGTTCACATGGTGATCGGCAGCTTCACTCCTATGAGCTTTGTATCAAAATACTCAAGTATTTCAGGGCGTGGTGGTTTTCTGGTTTCATGGCTATCAGTTTTTTTGGATTTGGCTAAATGTCATTTGTGCCGAGTAAGGTAAGTGGGAGGACAGGAATTCAGAGCCTGAGATCTTTAGGGATGGTGTTCGTAATGAAGCATGGTCCAACCTTAATCACAGGGTTTAGAATCTGGGGGTGTACAGGAGGGGCAGAGAGGGCTGTGGGGATGGCCTGTGTCTGGAGAAACCATTTGGTGTTTTCCAGAGTGGCCATCTGAGCTTTCATTTTTTTTTTTTCTTTTGAGGTCTTCAGCCACCTGAAGAGGTTGGGTTATGTGGTTCGACGATTCCAACCAAGGTAAATCCCCTTCCTGTTCCCCTTCCATATATTCTAGTCCTGGGACCTGGCTGACTAGTCTAAGGTAGAAAATGGCCTCTCCTTACCTGGAACCCTTGGCT | CAAGCCCAACCCAGGGGCACTCCCACGCGGAGCCCGCGGCCGACACGGGCGGAGGGCGCCCTTGGCAGTGCCTGGGGTCGGGCTGGCTCCCCCGCCCCCCGGAATGTCCCTCCAGCGCCTCGCAACCCCCCAGCCCAGCCCAGCCCAGCCCAGGCCCACCGGGGAACAAAGCGGCGGGAGAAGCCGGGCGGGCCAAGCGCCCGAGGTATAAACGCGGAGGATGGAAAAAGGGGCGCGAGGAGGACGGAAGGAGCGGGGAGATGGAGGTGCCCGCCGACCCCGCAAGAAAAGTTAGTTTGCGCCCGCCCCCAGGGGCGCTGACCCCCAGCGCGGGCCCCGCAGCCTCACCTCTCCCGGCCGCCCGCCGGGGTCCGGCTGGCCCTGCTCGGTCCCTGGCACTCAGGACGGTGGCTCCCACTCCCCCCTGCCCCCCTTTCTCCTTCTCCTTTTCCAAGGCCGGCTCGGCGCCTCCCGCAGGAAATCCCGCCCCTCCCCCCTCCCTCCCGCCGGATCGGGAACGGAGGGACCGTCCCGGCCGCGCAGTCAGGCTGTCAGTCAGCACCGGCGGCTCCGCCCCCATCCGCGCCAGATCCCGCCCCAACTCGTGCCCGCCCGGACCGGGGGCGCTGACCGGATCAGCGCATGCGCCCAGGTGAAACGGAGGGGCGGGGGGCGCGGGGGCAGAGGTGACCTGGGGCTCTGGACTTAGACCCAAGGGCTAGACACCCCGGGTCTGACTGGTGGGAGAGAAGACGTAATGTGAAGGGGGTTGGCAACCAAGACGCGGGACCCCACTTGCAGTACCCCCCGTCTGCGGCCGGCGTCGCCCACCCGCAGCCGCCGGCCGGGCAATGGCACCACCTAGCGGACGGCACCAGTGCGGGGACCCCAGCCTCGAGGAGGCGCTCGTGCCGGGCGGAGGTGGCGCTTCAGCACCGTCGTGGGCCGGACAGCGCCTCCCGCCCCCGGCCCTCGAAACCTGGCTTCGGAGCCCAGCCGTAGGGACCGGACGGAAGACACCGAAGGAATGGCGAACCTCCCCGGACCGCTCCTGACAGTTCCCGGGTGGCCTTCGGCCTGCAAAGTCGGAATTTGCACACCCTCCGCTCGTCCTTCCCTGAGCCCTTCTGCCCTCCTTGCCCAGCCCGGGCGGTGGGGACTAAGCAGCGCGAGGCTGCAGAGGGGCGGTCACAAGTGTGACCATTCGCACTGCACTCCAGACGCCGGCTCCTCAGGCTTTACTGGAGAGAAGCCCCGAGGAGGGCTAGGGGCAAAAGAGGGGCCTTCTGCATCTCCAGCAACCTGCGGGCTGAGCTCCCAGACCCGGCGTCGGGGTGCGCTTCCGGGCGGGCGCTAGGACCGGGGACAATCAGGAGGGCGCAGAGCGGGCTGGGGCGGTGCAGGGGGCGGGGCTGCCGCGGCATTGCGGATCGGCGGGCACTAGGGCAGCGCGGAGCTCCGGCGGTGGGCGGGGCGTGGCGGCGCGCGCAGCGGCAGGCGGCGGCGGGATGGAGCCCGAGCCCGAGCCCGCGGCCGTGGAGGTTCCCGCGGGGCGCGTGCTCAGGTGCGGCGCGGCCCGGCCGGAGTGGGTGTCGGGGGCGCGGGGCCAGCGCGGGTAGGGAAACCGGCGCCCGGGACCCGGCCAGGCGGCCCCCGATGCGCGGCGCTGACCCCGCGTCCCCTTCTCCCCCAGCGCCCGGGAGCTCTTCGCCGCCCGCTCGCGGTCGCAGAAGCTGCCCCAGCGCTCGCATGGCCCCAAGGACTTTCTGCCCGACGGCTCGGCAGCTCAGGCCGAGCGGCTGCGCCGGTGCCGGGAAGAGCTCTGGCAGCTGCTGGCAGAGCAGCGCGTGGAGCGCCTGTGAGAGGGGCGGGCCCAGGGGTAAGGGAAGCGGGGGCGAGGCGGGCCGCGGGGTCTCCGGAATGGACTGACGCAGACCCCTCCCCACTCCTCGCCAGGGGCAGCTTGGTGGCTGCCGAGTGGAGGCCAGAAGAGGGCTTCGTGGAGTTGAAGTCTCCCGCGGTGAGCGGCGGGCTCGGGGACCGGGGACCGCCCTCCCTGCCCTCCCTCCCTTGTGACACTTGCTCTGGGCCCCACACAGGGCAAATTCTGGCAGACCATGGGCTTCTCAGAGCAGGGCCGGCAGCGCCTTCACCCGGAAGAGGCCTTGTATCTTCTGGAGTGTGTAAGTGGGGCCCGGGAGGTGGGGAAGGAGTTGGGACCAAAGAACGGGAAGGACACGTTTTATCGGAGAAAAAGCACACACAACCCGGTCTTTAGAGAACTGATAACCAAACTTCTAAAGCAGGAGGTGGTACGTTGCAGGGAGCAGGGATTCCAGTCCACATTAGTGATGCTGCCCCACTTTCCTGGTTGGCCACATTCTTGATGCGCTGCTGAGAGGGGGAGGGGGAGGTATCAGAGCTGGGAAGTTGCCCCATTCCTCTGTGGCACTGTAGTGAGGGCTCATAAGCTGAGCTGTTGGCCCCACTTCCAGGGCTCCATCCACCTCTTCCACCAAGACCTGCCACTGTCTATCCAGGAAGCTTACCAGCTGCTGCTGACCGACCACACTGTGACCTTCCTGCAGTACCAGGTATCTGCCACCACCCCGCCTCCGGGAGCCACCCATCCACTGAATCAATGAGTATTGACAAGTACCCATAAGGTGCCAGGCACAGTGTCACATGCTGGGGCTGCAGGGCAGACGAGGGCTATGCTGTCACGAGGCTTACATTGTGGTGGTGGCCTGTTGGCTTCACATAGACCCCAGTGCTGTCAGAAGATAAGGTGGGGGAAGAGAATCCAAAGAGACTGGGCTGTTCATTCAGGTGAGAGAAGCTAGGGGCTTGTCGCAGGTTGGGGGTGGGTAGAGTTGCAGTGAGTGAAAAATAGATGAATCTCAGAAATATTTTGGAGAAAGAATGGATAGGACTGCCAATGGATTGGATGTCAGGATTAAGGAGAGAGAAGAACCCAGGATTACCGCCCATGATTTGGGCATGCACCAGTGGATGAAGGTGCTGTCATTTTCTGAGTGGGAAGAATGAAGAGGAGCAGATTTGGGAGGACAAGACCAGTCGAAAGAACTGTGTCAGATAAGTTAATTTTGAGGAGCTTCTTGGACATCCAAGTGAGTGTAAAGCAGACAGACAATTGGAATCCAAGTCTGGAGTGTGAGGAGAGGTCAAGGCTAGATGTAAATATGGGTGCCATGAGCACATGGATGGTATTTAAACTACTGGGCTGTATGGGAGTGCCATCAGAGTAGAGGGCTGGGTCTGAGCCCTGGGGCTCTCTGTGTAGGTTAGGGGGCAGATAAGAAGCAGAAACAGACCGAGGAGTGTCTGGTGATGCAGGAGAAAAACCAAAGTCGCATCACAGAAGCCAAAAGAAGGTCTTTCAAGGAGGAAGTGGTTAGCTGTGCTAAAGCCTGCTGAGATCAAGCAGGATGGGGGACATTCTTATCTATGTTCCTCTGATATGAATGCAGGGACACAAGGTTGAATATGTGGCTCCCTACCAGAAACTTCCCACCGGCATCTGTGGAGGTGTGGGGCTGGAGAGATGCCCACCACCTGCCATCATTTTGTTCACATGGTGATCGGCAGCTTCACTCCTATGAGCTTTGTATCAAAATACTCAAGTATTTCAGGGCGTGGTGGTTTTCTGGTTTCATGGCTATCAGTTTTTTTGGATTTGGCTAAATGTCATTTGTGCCGAGTAAGGTAAGTGGGAGGACAGGAATTCAGAGCCTGAGATCTTTAGGGATGGTGTTCGTAATGAAGCATGGTCCAACCTTAATCACAGGGTTTAGAATCTGGGGGTGTACAGGAGGGGCAGAGAGGGCTGTGGGGATGGCCTGTGTCTGGAGAAACCATTTGGTGTTTTCCAGAGTGGCCATCTGAGCTTTCATTTTTTTTTTTTCTTTTGAGGTCTTCAGCCACCTGAAGAGGTTGGGTTATGTGGTTCGACGATTCCAACCAAGGTAAATCCCCTTCCTGTTCCCCTTCCATATATTCTAGTCCTGGGACCTGGCTGACTAGTCTAAGGTAGAAAATGGCCTCTCCTTACCTGGAACCCTTGGCTNNNNNNNNN | benign | 283,827 |
Clinically, how would you classify the variant at chromosome 17, position 75521750, gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | ACAGGCGTGTGCCACCATGCCTGGCTAATTTTTTTATTTTATTTTATTTTTAGTACAGATGGGGTTTCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCA | ACAGGCGTGTGCCACCATGCCTGGCTAATTTTTTTATTTTATTTTATTTTTAGTACAGATGGGGTTTCACTGTGTTGCCCAGGCTGGTCTCGAACTCCTGACCTCAAATGATCCTCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCANN | pathogenic | 283,852 |
Variant on chromosome 17, at position 75521868, affecting TSEN54 (tRNA splicing endonuclease subunit 54): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACC | GCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGTCACCACGCCCAGCTCTACATCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCNNNNNNNNNN | pathogenic | 283,857 |
Is the variant located on chromosome 17 at position 75521926, gene TSEN54 (tRNA splicing endonuclease subunit 54), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | TCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCA | TCTTTTCTTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCANNNNNNNNNNN | pathogenic | 283,859 |
For chromosome 17, position 75521933, gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Inborn_genetic_diseases', 'Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5', 'Pontoneocerebellar_hypoplasia'] | TTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGG | TTTTCTGAAAGTGGAACCTATCCTAAGGAAATAATCGTGGACGTGTACAGTGGTTCACCTGTGAGAATGATCAACGATATTTATTATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCA | pathogenic | 283,860 |
Regarding the variant at chromosome 17 and position 75522018, affecting gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Pontocerebellar_hypoplasia_type_2A', 'Pontocerebellar_hypoplasia_type_4'] | ATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGT | ATTTGCTGGGGGTCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTN | pathogenic | 283,863 |
Clinical significance of chromosome 17, position 75522030, gene TSEN54 (tRNA splicing endonuclease subunit 54): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Methylmalonic_aciduria_and_homocystinuria_type_cblD', 'Pontocerebellar_hypoplasia_type_4', 'Pontocerebellar_hypoplasia_type_5'] | TCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCT | TCAGGCCCTGTACACATCGCTGAGAACAGAAGAGCAAAATCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTN | pathogenic | 283,864 |
Classify the chromosome 17 variant at position 75522069 affecting gene TSEN54 (tRNA splicing endonuclease subunit 54) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic | TCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTCTTCCTAGCACCTCCCCAACCAGTGCTCTGGGGCGCTCT | TCACTGCCCTCACAGAGCTTGCATTTAGTGAGGAGTCACACAGAACACACTCACTGTGCAAAATCAGTGTACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTCTTCCTAGCACCTCCCCAACCAGTGCTCTGGGGCGCTCTN | pathogenic | 283,866 |
Variant in gene TSEN54 (tRNA splicing endonuclease subunit 54), located at chromosome 17 position 75522139: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic | ACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTCTTCCTAGCACCTCCCCAACCAGTGCTCTGGGGCGCTCTTCATCAGAGCCCTGTGTTTTGGAGACAGAACTCATGGGTCAGAATTCTTGCACCCCAACTCCTTCCGTAG | ACTTGCAAACAAGAGTTGAACAAGAGGCAGGCTCACACAAATGAGAGGTTATCCCTTAGAGCAGCTCTGTCCAATAGAACTTTCTGTAATGATGAAAATGTTCTGTGTCTGTGATGTCTAATACATGGGGCTAGAGCAACTGTGGGACTGAATGTTTAATTTCATTTAATTTAAATGTATTTAAATCTAACTTAAATAGGCTGGTGTGGTGGCTCACGCCTATAATCCCAGCATTTTGGGAGGCCGACGCGGGCGGATCGCGTGAGCTCAGGAGTACGAGACCAGCCTGGACAGCGTGGTGAAACCCTGTCTCTACTAAAATACCAAAAAAAAAAAAAAAAAAAAATCAGCCAGGTGTGGTGGCAGGCGCCTATAGTCCCAGCTATTCAGGAGGCTGAGGCACGAGAATTGCTTGAACCTGGGCAGCTGAGGTTGCAGTGAGCCGAGATCTTGCCAGTGCACTCCAGCCTGGGCGAAAAAGCGAAACTCTATCTCAAAAAAAAAAGCAAACTTAAATAGCCACCTGTCGCTAGTGGCTCTTTTTTGAACAGCATTGCCTTAAAGCCTTAATTCACAGCCAGGAGGCCAGGCACAGTGGCTCACACCTGTAATCCCAGCACTTTAGGAGGCCGAGGCAGGTGGATCATGAGGTCAGGAGATGGAGACCATCCCGGCCAGCATGGTGAAACCTTGTCTCTACTAAGAATACAAAAATTAGCTGGGCATGGTGGCACGCGCCTGTAGTCCCGGTACTACTCGGGATGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGATGGAGGTTGCAGTGAGCCAAGATTGTGCCACTGCACTCCAGCCCGGTGAGAGAACGAGACTGTGTCTCAAAAAAAAAAAAAAAAGAAAAAGGAAAAAATTCACAGCAGGGAAGAATGCTGCAGTGACGGGGCTGTGTCCACAATATATTATTGAGTGAAAAAAAAGATCACAAAGCAGTATGCTAGTACAATGACATTTTTGTTAGAAAAAAATATATGGAGAGAGATTAGTGTGTACATAAACGAAAGAAAGATGTTAACAATAGTTATCCAAGGTTTTTATTTTTCTATATTTACCAAGTTTGCTAGCTCCTCTGGGCCATTGCCTAGGCAGAGGCACATGGCTGGGCCCCCTGGCTGGGCCTGTACCCCTCATGGGGGTCTGCTTAGGGCCTTAGCACTTGGGTGTGGCTCCGATCCTGGCCCACTGACTGTCCTCTTGGCCCGTTTCCTTACACATCCCACCAGATCCCCAGGCTGAGGAGGTGGGTCAGTGGCCCACCCGCTGTTCTCACCCCACAGCTCTGTCCTGTCCCCGTATGAGAGGCAGCTTAACCTGGATGCCAGCGTGCAGCACTTGGAGGATGGAGATGGCAAGAGAAAGAGGAGCAGCTCCAGCCCTCGGTAACTCCCACATCACGGTGGCCCCCCAGGGAGTGCTGGTGTCTGGGACCTTGGAAAATGCACAGGCTTTCTAAGAACCAGCAGCTCCCATGCAGGCTCAGGGAGACACTAGGGGACCTGCCTTCAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTCTTCCTAGCACCTCCCCAACCAGTGCTCTGGGGCGCTCTTCATCAGAGCCCTGTGTTTTGGAGACAGAACTCATGGGTCAGAATTCTTGC | pathogenic | 283,869 |
Does the genetic variant at chromosome 17, position 75523683, impacting gene TSEN54 (tRNA splicing endonuclease subunit 54), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Olivopontocerebellar_hypoplasia', 'Pontoneocerebellar_hypoplasia'] | CAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGCTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTCTTCCTAGCACCTCCCCAACCAGTGCTCTGGGGCGCTCTTCATCAGAGCCCTGTGTTTTGGAGACAGAACTCATGGGTCAGAATTCTTGCACCCCAACTCCTTCCGTAGAATCTCTTCTCTGGGAGCCCTAGAGCTTAGGAGTGGGCTATGGCTGGGTCTCACTCTAACCCTTTGTCCCTGCAGATTTGATGAGCCTGTCCCAGACCTCTGCAGCCTCAAGCGGTTGTCTTACCAGAGTGGGGATGTCCCTCTGATCTTTGCCCTGGTGGATCATGGTGACATCTCCTTCTACAGCTTCAGGGACTTCACGTTGCCCCAGGATGTGGGGCACTGACCTCACAGCTCTGCAGAGGATGGAGCTTGCTCCGGGGGACCGGGACTGTCTGTTCTCAGGGACCATCTCGGCTGCCTCCTGTACCCAGACTCTAACCTGTAGCTTCAGAGGCCAGTCTGGGCCTTGGCCCTGGGTGTCTGATACTCACAGAGTGAAACTGTGACCCTCTCCCTTCCCTGCTGCCTTGCAGTGACCCCTCTGGAACTCAGGACTCGATTTTAAGGACCCAGGAGGTGGGGCAGAAGAGAGGACTGTGTGCCTTTAACGAGAGGGTGCCTGCTTCGTGCTATAAAGCCAAAGCCATTAAAAATAGATTTCTTTTCTGCTGTTTCTGTATGTACTGGGTAAACCCCTCTCGCCCCCGTCCCGTTGTCAGTGGAACTGCCCCCAGCCCCTCACCCCTGCTTTGCCCACTCAAGGAGATCCGCTTCCTCTGGTGCGGGATCTAAGAGTGAGAGAAGCCCGCGGGATAGCAGGAACGCGACCTCGAACCTTTTGAGCCTTTCCCGGGCCTGCGTCGGAGGGGATGGGACGTCGCAGGCTTCCCGAAGGGAGGAGGGAGGACGGCGCGCCATCGGCCCTTCCCTGGGCGCAGCGGGGTGCGGGTGGCGAGAGGCGCCACCTGCAGCTGGGCGGTGGAGCGCGCTGCAGCCCCGGCCTCCGCGCCCTTTCCGCTCCCGCCTCTCGTCGCTCCAACCTCCTCCCTCGCTTGTGCTAAAAATTCCACCCGCTGTTGCAGACCCTCCGGCCGACACGGAGGAGGTGGGCGCCCCCCCGCACCCCCCCCCGAGGAAAGGCGTCTCGCCGCGACGCCCCGGTCCCTACACCATCCCTCTCGTGGGGCTGGAAACCCGGCCCTGCGTCCCCCGGTCACCCTCTCTGGGCTGGGCTCTGGCAGAGGAGCTGGCCCGGATCCGCCCCTCCCTCGGCAGCTCCCGGGAGTTGGAGGGACGGCTCCCCTGGAGTCTGGGAGGCGGCCCGGGACCGCAGGCGTTCCGGGAACTATTTCCGCTTGCGGGAGGCGGCGGGACACTGGGCGCGGCGCGCCGTTCTGCGTCCAGGTGCGCGCAGGTGAGGCCGGGGCGGGCCTGCGGAACCCCGAGGCCGTTCGCGAGGCCCCGCCCCGCGCTTCCCGGGGCCGCGGATTGGCAGGAGCGCAGCCCCCACCCCCGAGGGTGCCCCCGCCCCTGCGGCGCCGAGCTGGGGGGCGGGCCGGGGGCGGGGCGCTGGGCCCCGGCAGGCTCGCCCTTTATGTAAATAGCGCGGCTCCGCCCCAGGCTCGCCGCGCCGGAGGTGAGCAGGAAGGAGACGGCCGCCC | CAGCTCCCATGGGACGTGTGCACCTTAGCAACCAGGGGCAGATGTGCTGCTTTTCCCCCACGTCCCTCAGGTCCATTAATAAGAAGGCCAAGGCCCTGGACAACTCCCTGCAACCCAAGAGTCTGGCAGCCTCCAGCCCACCTCCCTGCAGCCAGCCCAGCCAATGCCCAGAGGAGAAACCCCAGGAGTCAAGCCCCATGAAGGGCCCAGGGGGCCCCTTTCAGCTTCTGGGGTCCCTGGGCCCCAGCCCTGGCCCGGCCAGGGAGGGGGTGGGGTGCAGCTGGGAGAGTGGCAGAGCCGAGAACGGAGTCACGGGAGCCGGTAAGCGGCGCTGGAACTTCGAGCAGATCTCCTTCCCCAACATGGCTTCAGACAGCCGCCACACCCTTCTGCGCGCCCCAGCCCCAGAGCTGCTCCCGGCCAACGTGGCTGGGCGGGAGACAGACGCTGAGTCCTGGTGCCAGAAGCTGAACCAGCGCAAGGAGAAGCTCTCCAGGCGGGAACGGGAGCACCACGCGGAGGCCGCGCAGTTCCAGGAAGATGTCAACGCCGATCCCGAGGTGCAGCGGTGCTCCAGCTGGCGGGAGTACAAGGAGCTGCTGCAGCGGCGGCAGGTGCAGAGGAGCCAGCGCCGGGCCCCTCACCTGTGGGGCCAGCCCGTCACCCCGCTGCTGAGTCCTGGCCAGGCCAGCTCCCCAGGTACCCCCTCAGCCTGCCACATCTTCGAGGGCCACTGGCAGCTGAGGAATCACAGGACTTTGGAAAGGGCATGGATGAACTGGGATGGATTGAGGCTTAAGGAAGATGTGGGAGGAGGGAGTGGACCCACAAGCACGGTCAGTTCTCCGGCGGCTGCAGCAGGGCCTGTGTGGGAAGGCTTAGAGATGGTGAGTCAGGAGAGGTAAGGAGGGGTGGAAACTATGACCATATCCTTAAAAAGATAAACAACATGCATGTGGATGGCTTTGCCACCAACTAGCTGTGATCCCAACCTGTTAGATGGGAAAAGGAGGTGCCTTCTTGGCCAAGTGAAAGAAAGGCTTGCTGTCTGCTCTAAGCCCAGGGAACCAATGGGGAAAGAATAAGCTAAATGTGTTAACGGATTCCAAATTACTTAAAGCCTTTATGGGAACACGGTAGATTGTAGGTAACTAGATAGGGTTGCCAGATCAGTTTGATTTGACTTTCAGTATAATTTTTCAGTATATGTTCCAAAAATTGCATGGGATATGCTTATACTAAAAAAAAAAAAAAAATGTTGCTAGGCTGGACACGGTGGCTCATACCCGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAACCTGGGCAACATGGTGAAACCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGTGCACACTTATAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATTGCTTGAACCTGGGAGGCAGAGGTCACAGTGAGCCAAGATCACGCCACTATACTCCAGCCTGGGTGACAGAGTGAGACTCCGTTTAAAAAAAAAAGTTGCTAAATCTGGCCGTCCTAAACTAGATGGCAGACTGAGAAATGTGACTCCCCTCCCCAGTACCTTGTTTTCTGTGTCCTTGTAGCCGTGGTCCTTCAGCATATCTCTGTGCTGCAGACAACACACCTTCCTGATGGAGGTGCCCGGTAAGTTTCCAAGCAGTGCCGTCTCTGCAGTACCTTGACCGCCAGGAGTTGGTGGTTAGGAACTGGCTCCTGAAGTAGGGTGTAAACTAGAGGACTGTTCCAGGGACTCCTACCCCTACGCCTAGCTCTGAGCAATAACTAGTGTTCGTGTGTGTCTAGGGAAGAGGGAGAATAACCAGTGGGTTAGCCCAAGGGTTCAGAGCCCCCAACCCTCAAGTGGCACCTCTGTGAGGCTGCTTCCTGGAACTGGTGGAGGGAAAGGGTGGGATGGAAAAGAAAGGTTGGGGAGAAGAGTTCATGTCATAACGTTTCTCATTGTATTGTCAGGCTGTTGGAGAAGTCTGGGGGTTGGAAATCATCTTTGATGTTTACCAGGCCGACGCTGTGGCCACATTCCGAAAGAATAACCCTGGCAAACCCTATGCCCGGATGTGCATTAGTGGGTACGCAGTGAGCCAGCACTGCCCCTCCCCCAGCTGCTGCCAGTTCTCCTGTGAACCAAGTGGGACTCCTCTGTACTCCCCTGGCCAGCGTGCCAATCTCTGAGAGGAACAGGAGGTCCAGAGAGGCTAAGTGACCTACACAAGGCCACACAGCCAGTTTGTGCTGCCCTACTCTGAGCTCCTCGTTGCTGGCATTTTAGGGTAGTCTTTCTCCAATGCCATTTTAGTCTAGGACTCACCCAGCAGAAGGGATGTGGATTGTGGGGATTTACAGGCTAAGAGTGGTGAGCACCTTGCTCTTCCTAGCACCTCCCCAACCAGTGCTCTGGGGCGCTCTTCATCAGAGCCCTGTGTTTTGGAGACAGAACTCATGGGTCAGAATTCTTGCACCCCAACTCCTTCCGTAGAATCTCTTCTCTGGGAGCCCTAGAGCTTAGGAGTGGGCTATGGCTGGGTCTCACTCTAACCCTTTGTCCCTGCAGATTTGATGAGCCTGTCCCAGACCTCTGCAGCCTCAAGCGGTTGTCTTACCAGAGTGGGGATGTCCCTCTGATCTTTGCCCTGGTGGATCATGGTGACATCTCCTTCTACAGCTTCAGGGACTTCACGTTGCCCCAGGATGTGGGGCACTGACCTCACAGCTCTGCAGAGGATGGAGCTTGCTCCGGGGGACCGGGACTGTCTGTTCTCAGGGACCATCTCGGCTGCCTCCTGTACCCAGACTCTAACCTGTAGCTTCAGAGGCCAGTCTGGGCCTTGGCCCTGGGTGTCTGATACTCACAGAGTGAAACTGTGACCCTCTCCCTTCCCTGCTGCCTTGCAGTGACCCCTCTGGAACTCAGGACTCGATTTTAAGGACCCAGGAGGTGGGGCAGAAGAGAGGACTGTGTGCCTTTAACGAGAGGGTGCCTGCTTCGTGCTATAAAGCCAAAGCCATTAAAAATAGATTTCTTTTCTGCTGTTTCTGTATGTACTGGGTAAACCCCTCTCGCCCCCGTCCCGTTGTCAGTGGAACTGCCCCCAGCCCCTCACCCCTGCTTTGCCCACTCAAGGAGATCCGCTTCCTCTGGTGCGGGATCTAAGAGTGAGAGAAGCCCGCGGGATAGCAGGAACGCGACCTCGAACCTTTTGAGCCTTTCCCGGGCCTGCGTCGGAGGGGATGGGACGTCGCAGGCTTCCCGAAGGGAGGAGGGAGGACGGCGCGCCATCGGCCCTTCCCTGGGCGCAGCGGGGTGCGGGTGGCGAGAGGCGCCACCTGCAGCTGGGCGGTGGAGCGCGCTGCAGCCCCGGCCTCCGCGCCCTTTCCGCTCCCGCCTCTCGTCGCTCCAACCTCCTCCCTCGCTTGTGCTAAAAATTCCACCCGCTGTTGCAGACCCTCCGGCCGACACGGAGGAGGTGGGCGCCCCCCCGCACCCCCCCCCGAGGAAAGGCGTCTCGCCGCGACGCCCCGGTCCCTACACCATCCCTCTCGTGGGGCTGGAAACCCGGCCCTGCGTCCCCCGGTCACCCTCTCTGGGCTGGGCTCTGGCAGAGGAGCTGGCCCGGATCCGCCCCTCCCTCGGCAGCTCCCGGGAGTTGGAGGGACGGCTCCCCTGGAGTCTGGGAGGCGGCCCGGGACCGCAGGCGTTCCGGGAACTATTTCCGCTTGCGGGAGGCGGCGGGACACTGGGCGCGGCGCGCCGTTCTGCGTCCAGGTGCGCGCAGGTGAGGCCGGGGCGGGCCTGCGGAACCCCGAGGCCGTTCGCGAGGCCCCGCCCCGCGCTTCCCGGGGCCGCGGATTGGCAGGAGCGCAGCCCCCACCCCCGAGGGTGCCCCCGCCCCTGCGGCGCCGAGCTGGGGGGCGGGCCGGGGGCGGGGCGCTGGGCCCCGGCAGGCTCGCCCTTTATGTAAATAGCGCGGCTCCGCCCCAGGCTCGCCGCGCCGGAGGTGAGCAGGAAGGAGACGGCCGCCCN | pathogenic | 283,884 |
Does the genetic variant at chromosome 17, position 75729291, impacting gene ITGB4 (integrin subunit beta 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | GTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACT | GTGTGGATAAGGACTGCGCCTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGAC | pathogenic | 283,916 |
Located at chromosome 17 position 75729310, the variant affecting gene ITGB4 (integrin subunit beta 4)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGC | CTACTGCACAGACGAGGTGAGGACCTGGCCCGGGTTGGTGTGGAACAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCN | pathogenic | 283,918 |
Does the variant impacting ITGB4 (integrin subunit beta 4) on chromosome 17, position 75729355, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATA | CAGGCAAGGGTCGGGAATAGCTGGTGGAAATGAATCTAGGGTTGGGGCAGCCAGGGAATGGGTGCTGCCCCCAGTGACCCCCTGTCCTTCTGGCCAGATGTTCAGGGACCGGCGCTGCAACACCCAGGCGGAGCTGCTGGCCGCGGGCTGCCAGCGGGAGAGCATCGTGGTCATGGAGAGCAGCTTCCAAATCACAGAGGTGCCTGGTGTGGGGACTGGGGTGGGGGCTCCCCATGCTCAGCCTGGCTATTTATGGGGGTGTATAGTGCCCCTTGGCCGGGCTGGGCCCCCATCGGGCCTCCGGAGTGACCCTCTAGCCAGCTGTCCCCTTCCACTGGCTGCAGGAGACCCAGATTGACACCACCCTGCGGCGCAGCCAGATGTCCCCCCAAGGCCTGCGGGTCCGTCTGCGGCCCGGTGAGGAGCGGCATTTTGAGCTGGAGGTGTTTGAGCCACTGGAGAGCCCCGTGGACCTGTACATCCTCATGGACTTCTCCAACTCCATGTCCGATGATCTGGACAACCTCAAGAAGATGGGGCAGAACCTGGGTACGGCAGGGCCAGAGTGGAGGACAGCAGGGCAGGAGGGGGACAGGTGGGCGTCTGCTTGGGAGGCCAGGACTCAGGACAGCTGCACCCACCCAGAAGGAAACACTGGACATTTGAGCCCCCAAAAACCTTCCCTTCCATTCTCAAGGGAAGAATCTCGGTCAGACCCTACTCACCACTGGGGACTTCTGAGAAGGCCCAGGGCAGGCGGGCAGTGGAGCCATCTGGCCCTGACAAGGAGGGCACCCCCTGCCACGAGGCTGTGGGGAAGCTTCTGCTCCTCAGAGCTGGGCTGCATTCCCAGCCACCCTGCCCTTGCTGTACGCATAACTCCAGACCCCCAGTCCCATTTCCCTCATCCATAAATAGGAACAGACAATGTTGTGAGCATGAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAATGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAN | pathogenic | 283,919 |
Gene ITGB4 (integrin subunit beta 4) variant at chromosome 17, position 75730295—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | GAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGC | GAACCTTTGTCCAGCATGCAAAGCGTTAACCTCCCTCTTCCTCCCTTCTGAGCCAGCCCTTGGTGGGGGGCCCGTGTTTATGCCAGGCATCAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGG | pathogenic | 283,923 |
Evaluate this variant at chromosome 17, position 75730385, gene ITGB4 (integrin subunit beta 4): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCACCTACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGA | CAGGGCTCAGCTATCCCCTCTCTGTCCTTTTGACATCCAGCTCGGGTCCTGAGCCAGCTCACCAGCGACTACACTATTGGATTTGGCAAGTTTGTGGACAAAGTCAGCGTCCCGCAGACGGACATGAGGCCTGAGAAGTAAGTGACTGTGTGGGTCCCGCAGGTGGGCAAGGGTCCAGGCCATGTGACCCCCACTCCTCTTTCACCCACAACTTAAAATTATCCTTCTACGGCTGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACCAGGGCGGGCAGATCACCTGAGGTCAGAAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCTCTACTAAAAAATACAAAAATTGGCTGGGCGCGGTGGTTCACGCCTGTAATCCTAGCACTTTGGGAGGCCAAGGCGGGTGGATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAATACAAAAGATTAGCCAGGCGTGATGGTGGGCACCGGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAATGAGCCAGGATTGCGCCACTGCACTCCAGCCTGGGCGACAGAATGAGACTCTGTCTCAACAAAAAAAAAAAAAAAAAAAAAATTAGCCAGGTGTGGTGGTGGGCGCCTGTAATTCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCAAGATCGTGCATACCGCACACCAGCCTGGGTGATAAAGCGAGACTTGGTCTCAAAAAAAAAAAAAAAAATTCTCCTTCTAGTTGAAACGAGCCAGGGGCACTGGGGTCTGCGGCGTCTTCCCCCTGTGACACTCTCTCTCCCTCCCACCTCTGCCCAGGCTGAAGGAGCCCTGGCCCAACAGTGACCCCCCCTTCTCCTTCAAGAACGTCATCAGCCTGACAGAAGATGTGGATGAGTTCCGGAATAAACTGCAGGGAGAGCGGATCTCAGGCAACCTGGATGCTCCTGAGGGCGGCTTCGATGCCATCCTGCAGACAGCTGTGTGCACGGTGGGCACTGGGAAGGGTGCTGCCAGCCTAGGCCAGGGGTGAGCACTTCTGGGCAAGGGCCTGAGCTGCCCCCTGGCCTGCTCTGGTGCCAGGCTCACAGGCCCTGAGGGAAAGCCTGGGAGCCTGCAACCCCTTCACCCTGAGACAAGCTCAGACTCTGTGAGTAGGTCTCAGTTACAATCTGAGTTCAGATGTGCCTGGAGCCACGGTCCCCTGGCCTGAGCAGTCACAGCCTGGTTTCGTATCAGCTACCAAGGCAGACCTGGGCTTTAGCGTTCTGGAATCTTTAGTACCCTGAACCCACCAGCTGCCCAGACTCCACCTGTTCTGGGCATCCAAATAAGCCATTTCCTTTGATATGTACATCCATTTGTTCATTCTGAAAATGACATACCCATATTACTAGGTTAGAAAACAAAGAGCTAGCCAAGGCGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGGGGATTGCTTGAATTCAGGATTTGAGACCAGCCTGGGAAACATGGCAAGACCCTGTCTCTACAGAAAACACAAAAATTAGCTGGGTGTGATGCACGCCTGTGGCCCCAGCGCCTTGCGGGGGCCGCATCTCCAGCTCCTGTTTCTCAGCGTTGTCACTCAGTCATGTGCCGTCAGATGCATCTTTCATGAGGGCACTTGCTGTGAATCCAGTGGCTTAAGCCCAGCCCCATGTTGGGACCCGCGTTCCCCGTCCTACACGACGCCGTGATGCGTGTCAGCAGGCAGCCTGCTCAGTGGGCACGCCCCGCCTTGCCTTCCCCAGAGGGACATTGGCTGGCGCCCGGACAGCACCCACCTGCTGGTCTTCTCCACCGAGTCAGCCTTCCACTATGAGGCTGATGGCGCCAACGTGCTGGCTGGCATCATGAGCCGCAACGATGAACGGTGCCACCTGGACACCACGGGCATACACCCAGTACAGGACACAGGACTACCCGTCGGTGCCCACCCTGGTGCGCCTGCTCGCCAAGCACAACATCATCCCCATCTTTGCTGTCACCAACTACTCCTATAGCTACTACGAGGTGCGGGGCCCAGGTCCCACGGGTGGGAGGTGGTCAAGGTAGGGGGTCCATGGAGCTTCTCAGACACCTCTCCCTCCCTCCCTCCCTCCCTCCCTCCCTTCCTCCCTTCCTCCCTCCCTCTTTTCCTCCCTTTCCTTCCTCCCTTCCCAAAGCCTTTAGACCCCCCAAAATGTGGGCCCTAGTGGGAAGGGGAGGTCATGTGCCCATCTTCCACCCCAACTCCCAAGCAGGTGGGGGCTAAGAGGGCAGGCTCTGCGACACCACAGTAGGTTCCAGGCCTCAGTTTCCCCATCCTCAAAGTGGGAAGAATCCTAGAGCTGTTCAGATTCATGGAGATGCTTAGCCTGAGACCTGGCCTTCTCTCCCGCAGAAGCTTCACACCTATTTCCCTGTCTCCTCACTGGGGGTGCTGCAGGAGGACTCGTCCAACATCGTGGAGCTGCTGGAGGAGGCCTTCAATGTGAGGGCAGCTCAGGCTCCAGAGTCTGAGCCCTTCTGGGGCAGGGCAGGAAGTGGGCAGGGTGGGCAAGAGGTGTCTTGGATCACGGTGGAGAAATGGGTCTGGGACAGACCAGTGAGGAAGGGTCTCTAGCTATCCCTGAGGCCCCGAGGGGCCACCTGGGCCTGGCCCTGGCTCCTGCAGGCTCTGTGATACCCCGCATGATGCCAGCCACACTTGGAGGTTGGGGTGGAGCACAGAGGCCCCCCACAGAGCACTGATCAACCTCCTTCCTCCTTTAGCGGATCCGCTCCAACCTGGACATCCGGGCCCTAGACAGCCCCCGAGGCCTTCGGACAGAGGTCACCTCCAAGATGTTCCAGAAGACGAGGACTGGGTCCTTTCACATCCGGCGGGGGGAAGTGGTACGCCTCTGTGGGGGCAGCGGGGTGGGGGATAGGCACAGCGCCCCACACCGAGTGGAATCGTTTAAAACAGCGGTCAAGAGCGTGGCCCCTGGAGTCAGGCAGGCCTGGGTGCAGATCCCTGGGCCTAGCCGCTCGGATGAGCCTAGGTTGCTCCTCTGCTTGTTGGTTTCCTCGGCATGCAAGCGTCGAGCCCGGAGGCTTGCTGGGGCAGTAAATGGGTTAGTGTCACGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGANN | pathogenic | 283,925 |
Variant on chromosome 17, at position 75733648, affecting ITGB4 (integrin subunit beta 4): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCCTTTGGTATTCTGAGTCCTGTGTCATATTGCCTGATCAGAAGAGAGCTCGTAAATGCACGGCAGTAAGGGCTTTAGCTTCAGGACACTGGGCGAGCTTGCCACAACTTGAGGCAGAGCAGTGGGGAAAGGACACTGGAAGGGGTGACATGACAGGGCACTGGGGTTTAGGTCTCAGCTCAGCCACTTCTGTCTGCATGACTGGGAGCTGCCTCGGCCCTCTCAGAGCCTCAGTTTCCTCATCTGTAAAATGGGACAGCAGGCCAGGCGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGCACCTAGAAGGCGGAGGTTGCCGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCTGTCTTGAAAAAAAATAAAATAAAATAGGCCAGGCGCGGTGGCTTACGCCTGTAATTTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGGCGAGACTCCGTCTCAAAAAAAAAAATAAAATAATTAAATTAAATTAAATTAAATGGGACAGCAAAAGCCCCAGCTTTCCTCCTGGGCTGTTTCGGGGAATGACCAGTTCCTCCTTCAGGAGTGGCCAGACCTGCAACTGCTCCACCGGCTCTCTGAGTGACATTCAGCCCTGCCTGCGGGAGGGCGAGGACAAGCCGTGCTCCGGCCGTGGGGAGTGCCAGTGCGGGCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGTTCTGCGAGTATGACAACTTCCAGTGTCCCCGCACTTCCGGGTTCCTCTGCAATGGTGAGCACAACAACTGCGGCCAATGCTGATGGCGGGGTAGGGAGTGGACAGCAAGCATGACTTTCCCGTCAGGACCCAGGTTGGGAGAGCCAGACTTGGAATCAGAATCCCCAAGTTCAGGCCCAGCCCACTCTGGATGCCCTGAGGGCCGCCCCTGAGTCCTGCCCCAACCTGGGCCTGACTTCCCTCATCTGTAACGTCCATGCCCAAGGTCACTGTTGGCAGGACTTTCCCCTGGTTTTAAGATTCCAACTCCCCTGAGGTTCTCTCTGGAAGTTCAGTTCTATGCCCACCCCACTTCTCCACACCCCTATCTCATTAGAGTGGGTGCCACCCAGCTCAGCCCTCCAATGGCTGGCAGGTATATGGCATTATGATCTTTCCTCTCTCCAAAGATGCTAAATTTCTGTGGGTTTTTTGTTGTTGTTGCTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATAGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAGGTGGGACTATAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTACACATCTGTAATCACACCTGGGATTACAGGTGTGAGCCACTGAGCCCGGCCCAAAGATGCTAAATTTCTACCTGGAAGGCCTGGAGCTTCCTCTGTATTCCCATGGGTCCAGGCCATAGGCATACAGTCTGGCCAGGAACATCAGAGCTGGGCAGGATCACAGAACTCAGACAAGGGGACATAGGGAAGGATTGGTAGTTGAATGGAGGAGGATGAATGAAAATCTACTCATCAAATACTTATGAAGCCCTCACTGTATACTTTCCAAGCCCCTGCTTTTCTACTCTTTCTTCTGTTCTTGCTTTTGTTCACCATTTCTTCTCTTCGACTGTCTGTCCCTGAGTGTGCTCAGAGAAACAGAAGAGAGAACTGGGCACCACTGGAGAAAGGCAGACAAGTGGCACAGAGGGAGGTATGAGAGAGGAAGGGAGGAAGGTGCCTCTGGGGAAGGAGGCAGGGCCAGAGTACAAAGGGCTTCGGTTCTAGTCCAGAGCAGGACTTCATCCTTTGGACAAAAGGGGGTCACTGGAGGTTTTACTTTCATTTTCTAACTATTTGCATATTAACCTTGTATCTAGTCACCTTGCTAAACGCACTTATGAAATCTAATAATTTGTCTGTAGATTCTTCTGGATACTTTGTGACATGTTCCTCACACTTGCAAATAAAGACAATTTTATTGATTGATTGATTGATTGATTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGGGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTGGAAATAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGATGGTCTCAGTCTCTTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAG | CGAAGCCCAGAGGCCCTGGCCACTGTCATTGTCGCTATGATTGTGACTGCGCTGGGAAGGAGGGAGTTTCCAGCCCTGAGGGAGGTGAGCAGGAGCTCATTTCAGGGATCCAGACATCTCCTAGGAACTTGGGGGCCGAGGGCCTTCAGGCATCGATGGCCCCCTGGTCCTTGGGGCTGGGCCTGCCTTGGCTGACCACGGGGCCCCTGCAGGGTATATACCAGGTGCAGCTGCGGGCCCTTGAGCACGTGGATGGGACGCACGTGTGCCAGCTGCCGGAGGACCAGAAGGGCAACATCCATCTGAAACCTTCCTTCTCCGACGGCCTCAAGATGGACGCGGGCATCATCTGTGATGTGTGCACCTGCGAGCTGGTACAACGCAGCCCCGCAGGGCGGGAGGGGAGAGCTGAGCCAAGCACCCAGGGACCCTGAGGAATGAAGCAGGACTCCTGTGCCCCATATCCCTTGTGGGGTTTCCCGAGGCACACAGGAGAGCGGAAGTGTCCAGTGGCCCCGGTCCTGCTCCCCCGACGCACCCCACCATGGTCTCTCTCATTCCAGCAAAAAGAGGTGCGGTCAGCTCGCTGCAGCTTCAACGGAGACTTCGTGTGCGGACAGTGTGTGTGCAGCGAGGGCTGGTGAGTGGGGAAGGGAGTTGGGCACCCAGGACACCAGTGGCCCCTGATGGGAAAGCTGGGCTCCTGCAGGGGCCTGGCCCTGGGTGCACCTTGTACACCTGGCTGGGGGTGGGGCGGCAATCAAAGAAACGGCTAAGGGCGGGGCACACCCAGTTGTTGGTCAAACCCAGGTCAAAGCACTTTGAAATACAGAGATATATGGGCTGTCTCTAGAAAGAGGTGTGAGGATTGAGACGGGGTTGGCTGTTGGGGCTGGGGTCTGGATCTTGGGGGACAGGCACACGAGGCTTCCTTTTTGCTCCATGCCTTTGGTATTCTGAGTCCTGTGTCATATTGCCTGATCAGAAGAGAGCTCGTAAATGCACGGCAGTAAGGGCTTTAGCTTCAGGACACTGGGCGAGCTTGCCACAACTTGAGGCAGAGCAGTGGGGAAAGGACACTGGAAGGGGTGACATGACAGGGCACTGGGGTTTAGGTCTCAGCTCAGCCACTTCTGTCTGCATGACTGGGAGCTGCCTCGGCCCTCTCAGAGCCTCAGTTTCCTCATCTGTAAAATGGGACAGCAGGCCAGGCGAGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAATCCCATCTCTACTAAAAATACAAAAAAGTAGCTGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGAATTGCTTGCACCTAGAAGGCGGAGGTTGCCGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCAAGAAGAGCGAAACTCTGTCTTGAAAAAAAATAAAATAAAATAGGCCAGGCGCGGTGGCTTACGCCTGTAATTTCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACATGGTGAAACCCCGTCTACTAAAAATACAAAAAATTAGCCGGGCGTAGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAAGAGGCAGAGCTTGCAGTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCGACAAGGCGAGACTCCGTCTCAAAAAAAAAAATAAAATAATTAAATTAAATTAAATTAAATGGGACAGCAAAAGCCCCAGCTTTCCTCCTGGGCTGTTTCGGGGAATGACCAGTTCCTCCTTCAGGAGTGGCCAGACCTGCAACTGCTCCACCGGCTCTCTGAGTGACATTCAGCCCTGCCTGCGGGAGGGCGAGGACAAGCCGTGCTCCGGCCGTGGGGAGTGCCAGTGCGGGCACTGTGTGTGCTACGGCGAAGGCCGCTACGAGGGTCAGTTCTGCGAGTAGACAACTTCCAGTGTCCCCGCACTTCCGGGTTCCTCTGCAATGGTGAGCACAACAACTGCGGCCAATGCTGATGGCGGGGTAGGGAGTGGACAGCAAGCATGACTTTCCCGTCAGGACCCAGGTTGGGAGAGCCAGACTTGGAATCAGAATCCCCAAGTTCAGGCCCAGCCCACTCTGGATGCCCTGAGGGCCGCCCCTGAGTCCTGCCCCAACCTGGGCCTGACTTCCCTCATCTGTAACGTCCATGCCCAAGGTCACTGTTGGCAGGACTTTCCCCTGGTTTTAAGATTCCAACTCCCCTGAGGTTCTCTCTGGAAGTTCAGTTCTATGCCCACCCCACTTCTCCACACCCCTATCTCATTAGAGTGGGTGCCACCCAGCTCAGCCCTCCAATGGCTGGCAGGTATATGGCATTATGATCTTTCCTCTCTCCAAAGATGCTAAATTTCTGTGGGTTTTTTGTTGTTGTTGCTGCTGTTTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCACTCTTGTCGCCCAGGCTGGAGTGCAATAGCACAATCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAGGCGATTCTCCTGCCTCAGCCTCCCTAGTAGGTGGGACTATAGGCATGCACCACCATGCCCAGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCCGCCTCAGCCTCCCAAAGTACACATCTGTAATCACACCTGGGATTACAGGTGTGAGCCACTGAGCCCGGCCCAAAGATGCTAAATTTCTACCTGGAAGGCCTGGAGCTTCCTCTGTATTCCCATGGGTCCAGGCCATAGGCATACAGTCTGGCCAGGAACATCAGAGCTGGGCAGGATCACAGAACTCAGACAAGGGGACATAGGGAAGGATTGGTAGTTGAATGGAGGAGGATGAATGAAAATCTACTCATCAAATACTTATGAAGCCCTCACTGTATACTTTCCAAGCCCCTGCTTTTCTACTCTTTCTTCTGTTCTTGCTTTTGTTCACCATTTCTTCTCTTCGACTGTCTGTCCCTGAGTGTGCTCAGAGAAACAGAAGAGAGAACTGGGCACCACTGGAGAAAGGCAGACAAGTGGCACAGAGGGAGGTATGAGAGAGGAAGGGAGGAAGGTGCCTCTGGGGAAGGAGGCAGGGCCAGAGTACAAAGGGCTTCGGTTCTAGTCCAGAGCAGGACTTCATCCTTTGGACAAAAGGGGGTCACTGGAGGTTTTACTTTCATTTTCTAACTATTTGCATATTAACCTTGTATCTAGTCACCTTGCTAAACGCACTTATGAAATCTAATAATTTGTCTGTAGATTCTTCTGGATACTTTGTGACATGTTCCTCACACTTGCAAATAAAGACAATTTTATTGATTGATTGATTGATTGATTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTAGAGTGCAGTGGCATGATCTCAGCTCACTACAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGAAGCTGGGATTACAGGGGCCCACCACCAAGCCCAGCTAATTTTTGTATTTTTAGTGGAAATAGAGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGAGCTCAAGTGATCCTCCCGCCTCGGCCTCCCAAAGTGTGGGATTACAGGTGTGAGCCACCACGCCCGGCTGACAGTTTTATTTCTTTTTTCTTTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTCACCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCTACCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAACTGGGACTACAGGCATGCGCCACCATGACCAGCTAATTTTTGTATTTTTAGTAGAGACGAGGTTTCTCCATGTTGGCCAGGATGGTCTCAGTCTCTTGACCTTGTGATCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGN | pathogenic | 283,939 |
Mutation found at chromosome 17 position 75750112, gene ITGB4 (integrin subunit beta 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | GCTCCACGGCACTGAAAGGAAGATGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCTTGAGGCCGGGAGTTCAAGACCAGCCTAGGCAACATAGGGTAACCGTGCCTCTACAAAAAAAAAAAAAAAAAAAATAGCCAGGTGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGGGAAGGATGGCCTGAGCCCAGGAGGTCAAGGCTTCAGTGAGCTGTGATTGTGCCCCTACACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAACAAACAAACAGAAACGTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAAGATGAGGTGTGAGAATCATTTGAACCTGGAAGGTGGAGGTTGCAGTAAGCCGAGATCATGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGATTACGCCTCAAAAAAAAAAACAAACAAAAAAAACACAAAAACCTGAACCTCGTGTAAGTACTCCACCCAGCAAGCAGGGATGGTCTCTGCAGTGTCCATGAGGTTGGGAGGGAGCGTGTGGCCATGACTCTTGCCTCAGCCCCCAGCCATGACCCTGACCCTGACCCCCTCCACTCCCAGGACTACATCCCCGTGGAGGGTGAGCTGCTGTTCCAGCCTGGGGAGGCCTGGAAAGAGCTGCAGGTGAAGCTCCTGGAGCTGCAAGAAGTTGACTCCCTCCTGCGGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCAC | GCTCCACGGCACTGAAAGGAAGATGGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCGCTTGAGGCCGGGAGTTCAAGACCAGCCTAGGCAACATAGGGTAACCGTGCCTCTACAAAAAAAAAAAAAAAAAAAATAGCCAGGTGTGGTGCACGCCTGTAGTCCCAGCTACTCAGGCGGCTGAGGGGAAGGATGGCCTGAGCCCAGGAGGTCAAGGCTTCAGTGAGCTGTGATTGTGCCCCTACACTCCAGCCTGGGTGACAGAGTGAGACCCTGTCTCAAAAACAAACAAACAAACAGAAACGTGGCTGGGCATGGTGGCTCATGTCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGAGGATCACTTGAAGTCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTCAGGAAGATGAGGTGTGAGAATCATTTGAACCTGGAAGGTGGAGGTTGCAGTAAGCCGAGATCATGCCACTGCACTCCAGCCTAGGTGACAGAGTGAGATTACGCCTCAAAAAAAAAAACAAACAAAAAAAACACAAAAACCTGAACCTCGTGTAAGTACTCCACCCAGCAAGCAGGGATGGTCTCTGCAGTGTCCATGAGGTTGGGAGGGAGCGTGTGGCCATGACTCTTGCCTCAGCCCCCAGCCATGACCCTGACCCTGACCCCCTCCACTCCCAGGACTACATCCCCGTGGAGGGTGAGCTGCTGTTCCAGCCTGGGGAGGCCTGGAAAGAGCTGCAGGTGAAGCTCCTGGAGCTGCAAGAAGTTGACTCCCTCCTGCGGGGCCGCCAGGTCCGCCGTTTCCACGTCCAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACNNNNNNNNNNN | pathogenic | 283,976 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 75751021, gene ITGB4 (integrin subunit beta 4). What disease(s) is it linked to if pathogenic? | pathogenic; ['Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGACCCAGCTGAGCTGGGCTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTG | CAGCTCAGCAACCCTAAGTTTGGGGCCCACCTGGGCCAGCCCCACTCCACCACCATCATCATCAGGGACCCAGGTAGGCAGAGCCTGGGGGTCGGCTTAAGCAGGAGGAGAGGGAAGACTGGGGGGTCTCTCAACTAGGTCTGTCAGACTTAGCAAATCCAAACACAGGACGCCCAGGTAAATCTGAATTTCAGGTAAACAACATACACGTTGGTAGGATAAGTATGTCCCATGCAATATTTGGAACATACTTATCCTTTTTTTTGCAAAATGGGCTGGGTATACTGGCTCACACCTGTAATCCCAGCATTTTGGGAGGCCAAGGTGGGAGGATCACTTGAGCCCAGGAGTTCTAGACCAGCCTGGGCAACATAGTGAGACCTCGTCTCTACAAAAAATAAACAAATTAGCTTGGCATAGTGGTGTGCACCTGCAGTCCCAGCTATTCCGGAGACTGAGGTGGGAGGATCACTTGAGCCCAGGGGGTCTGGGCCGCAGCAAGCTGTGATCGCACCACTGCACAGCACCTGGGCCATGGAATGAGATCCTGTCCCCCAAGAAAAAATAATCTTGTTGTTTATCTGAAATTCAAATGTAACTAGGCATCCTGCATTTTATCTGGCAACCCTACAGCTAGAGAGGCTGTTGTCACCACACAATAGGAATTCTCCCATCAGACCCTGGCCCTTTGGCTTCAGCCTCAATTCCAACTAACATGCAGATGCTTGTGGAAGGAAGGAGTGGGCCAGTTAGTTCCTATCAGCCCTCAGCCTCCCAACTGGGAGAAAGCCTGCCAGGAAGATGGGAGAGGAGGGAGATACTCAGGGTACAGTGTGGAGATGGGGTGGGGAGCAAATGTTCTCATGTGGAATGTTCCCTGAGCTGCCAAGGGAGAAAGGGGCAGACCAACTCCCTCCCGCTTCTGTTCCTCCAGAGACCCTCCTGGGTCCTCCGCCAAGCTTGGCAGGATGCTCTATGTGGCAGCAATGGGGCACCACCAGGTCTCCAGAGACGCGGGTGGGCAGGTCTGAGTTGAATGCGCTGGGTAGAGCGCCCTGGGTGTTGAAGTGGGTCTCTGGCGCCCCCTGGTGGTGAAGGGGGATCTGAGTGGTTGCCCGGCCCCAACCTGACCCGTTAGATGAACTGGACCGGAGCTTCACGAGTCAGATGTTGTCATCACAGCCACCCCCTCACGGCGACCTGGGCGCCCCGCAGAACCCCAATGCTAAGGCCGCTGGGTCCAGGAAGATCCATTTCAACTGGCTGCCCCCTTCTGGCAAGCCAATGGGGTACAGGGTAAGGCGGGGGGCTGAGGGTCACGACAGGTGGATGGGCGGTCTGGCACCAGCACTCACAGAAGAGGTGGGCCGTCCAAGGCCAGGGCCCCCTGAGAGAGAGCAGACAGTGGAACCTAGCACAGGTGGTCAGAGGGAAACCCGGTCTGTGCTGGGAAAGAGGGAAGACCCATTCCTGAGTTTATCAGACATTTGCCCTCCTTCCTAGAATGGGGCCCCCTCCCACCCCCGCATGGGAGATACCCCCACCTGCTCTGCCCTAGTCCTGACGTGTGCACATGGCAGATCTCTCAGCCCCTCCCTCGGGCCTCATCTGTGCAAAGAGGACAGTAAGGGCAGAGGTCAGAGGAGGGACAGGCAGCTTGGGTGCCTGCTGCTCCCTGCTGACCAGGACCCCTGTCCCTGGGGGTAGGTAAAGTACTGGATTCAGGGTGACTCCGAATCCGAAGCCCACCTGCTCGACAGCAAGGTGCCCTCAGTGGAGCTCACCAACCTGTACCCGTATTGCGACTATGAGATGAAGGTGTGCGCCTACGGGGCTCAGGGCGAGGGACCCTACAGCTCCCTGGTGTCCTGCCGCACCCACCAGGAAGGTGAGGCCTCGCCATGTCTGTCCATTTGTCCCCTGGCTGCCCTGATGCCAGCATGCCCAGACCTCCCTCCCTCTGCCACTGACAGCACTCTTCCTGTATTCCCCGCTCCCTAGTGCCCAGCGAGCCAGGGCGTCTGGCCTTCAATGTCGTCTCCTCCACGGTGAGCCGGCTGAGACCAACGGTGAGATCACAGCCTACGAGGTCTGCTATGGCCTGGTCAACGATGACAACCGTAAGAACCAGATCCTTCTTTCCTGCCCACAGGGAGAACAGCCATGGAAGGGGAGGGGACAAAGCTGGAGGGAGCTCTTGGTCACTCCCTGGACCTGCTGTGCAGGGCACTCGAGGCCTTCATCCTGGTCAGCGGATAAGCCTGAGGCATCTTTAGGGTTTTGGCCAGATTTGGGCTGGGTTGCATTCTAAGACCAAACCCAGAAGGTTGCAGGGTGGGTGGTTACCTATGTGGAGTGAGGTCACAGGCCCAGGGGTACCCCTCCCCATGCAGGTAACCAGGGAGCTCACACGTGCATGGTTTTCTTAGGGTGAGAGGAAAGTTACCGGATTTAGCAAACAGAAATACAGGAGGTTCTGAATTTCAGATAGCACTTTAAAAGATTATTTTGTACATTGAGAGGCCGAGGCAGGTGGACTGCTTGAGGTCAGGAGTTCAAGACCAGCCTGGCTAACATGGTGAAACCGTTTCTACTAAAAATTAGACAGGCATGGTGGCTCATGCCTGTAGTCCCAGCTAGTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCCAGAAGGCGCAGGTTGCAGTGAACCGAGATCGTGTTACCGCACTCCAGACAGGGTGACAGAGCCAGACTCCGTCTAAAAATAAATAAATAAAAAGGATTATTTTATACATTATTTTATCTAGCAGCCCGAGATCAGAGGTGCCTAGCAGAACAGTTATTTCTCCAGTCCTGGAAGGGAGGCAGGGTGGGCAACCCCTATGCGTGCCCTTGCCTTGTGTGGAGGCACCGTGGATATATGGGTAGAGGTGACATCGAGGCCAACTTGAGTCCAGCCCTGGCTCTGCCACTTACTCAGCAGAGTCCCTTGGAGGACTGGTGACATATGTCCACGCCAGTCATGCTGACGCTCAGGGCTCCGCAGGCGGCAATTCAGCAGTGGCTGGCTTTGCCTTGCTTCCCCAGCCCCTGGGTGCCATCCAGGGGATGCACGGCCGTCCTGCTGTGTCAGGGGTGGTGTTGGGACCAGGCTGGGACCTGGGTGACCCTCTGAAGCACTCTCTCTGCCCCAGGACCTATTGGGCCCATGAAGAAAGTGCTGGTTGACAACCCTAAGAACCGGATGCTGCTTATTGAGAACCTTCGGGAGTCCCAGCCCTACCGCTACACGGTGAAGGCGCGCAACGGGGCCGGCTGGGGGCCTGAGCGGGAGGCCATCATCAACCTGGCCACCCAGCCCAAGAGGCCCATGTCCAGTGAGTGGTGGGCAGGGAGGTGAGGGGCAGACCGGGCAGGGGGGCAGGGGGCAGCAGCCAGGGCCCTGGCTCACTCCCCTGCCCTGCAGTCCCCATCATCCCTGACATCCCTATCGTGGACGCCCAGAGCGGGGAGGACTACGACAGCTTCCTTATGTACAGCGATGACGTTCTACGCTCTCCATCGGGCAGCCAGAGGCCCAGCGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGNNNNNNNNNNNNNNNNNNN | pathogenic | 283,983 |
Is the variant located on chromosome 17 at position 75754609, gene GALK1, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGGAAGGCTTGGGGATCTCCCCAGGGCAGAGCTGACTGCAGACGCAGCAAACCCCCGCCACTGCCAGGGTCAGCAGTGCTCACACCGATAGAGTGGCCGGCCAGAGGATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGTGAGTGACCTCAGCCAACCCTGCCTCTCCCACTAACCCTTCCTCTCTTCCAGCTCCTGGAGCCTCGGGCTTCTGTCTGCTGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCAT | CGTCTCCGATGACACTGGTGAGTGGAGACCTGGGACCCACAAGAGGACAGTGGGGGTCTTGGGTACAGAGTGAGTCCACTGGGTCCAGAGAGGGCAAAGGGGCCAGCAACTAGAGGACATGGAGGTTAAGGCAGCCTTGGACAAATGCAATGGAGTGCACATCTGTGCATGGGGCACAGGAACCAGTGCCTGGGGGACAGACACACACAGCCTTGTGCAAGCGCACATGAGTTCATGCCCACGGGACCACGAAGAAACACAGCTTCACAAGTTGAAGGTTCACCAGCTGTGCCATGCACACAGGACACTCAGGCCACCCCCCAGGGGCAGGCCTGGCCCAGGAGCCCTGGGCAGCCACCAGGCGGCCACCTGGCAGGGGTAGGGGAGCCAAGGAGACAAGAACACCCCCAACAGCTCTGTCCTTCCTCCTTGATTCCCAGCACAAAGTGCTGCGGAGCCCTTAGCTGGGCCTCCTGAGTGCTCAGTGTCAGCTGTGGCTCCACCTGTGGGACATCAGATGAATCACTCATCCTTTCCATGCCTCACTTTTCTGCTCTGTATAATGGGATACCAATCACACAGTACCATGAGTGGAAAAACCTCTGGGGCACGTATATCTTTTGTATTTTCTTCTGTCCCTGCCGATGCCTCAAGCTGCCCCCGGTGAACACATACTGGCCCCCACGGGGCTCAGCTTGGGCTTAAGGAGCCATTTTGAGGGGTTCAGGTGGAGCGCAGCTGGTGTGACTCTGGAACCCCAGCTCAGCTGCTTCTAACACTACCTGCGAAGCGCTCGGTGGCTTGCGGAACGGTCCCTGGGAGGCGGGCAGGGGCAAGATTCCTCTCTCCATTGTACAAACGGGAAACTGAGTCTCGGAGAGGTTAAGTAAAGCAAGGGAGACCTCACAGCTGGTGACAGAGCCCAGACTTCCCCCAGGTTTCTGGCGGGTCCGGGGGTCTCTCCTCCCCAGCTGTGCCGAGGCTGCACTCGCTCATCTGGAAAGGCTTCAGCCGCGCAAGGGTTTCACCTGCCGCGGCCTTCCCGCTCCGGCCGTGCGCATCTACCCCCGCCCCCAACACACACCCCGGGATCCCGGGAGCTGGAGACGGGCTCCCCTCGCAGAGCCTACGGCCTTCCCCCGCCTGGCCCTGCTCGGCCCGGCGCCCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGGAAGGCTTGGGGATCTCCCCAGGGCAGAGCTGACTGCAGACGCAGCAAACCCCCGCCACTGCCAGGGTCAGCAGTGCTCACACCGATAGAGTGGCCGGCCAGAGGATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGTGAGTGACCTCAGCCAACCCTGCCTCTCCCACTAACCCTTCCTCTCTTCCAGCTCCTGGAGCCTCGGGCTTCTGTCTGCTGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCA | pathogenic | 283,996 |
Located at chromosome 17 position 75755774, the variant affecting gene GALK1—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | CCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGGAAGGCTTGGGGATCTCCCCAGGGCAGAGCTGACTGCAGACGCAGCAAACCCCCGCCACTGCCAGGGTCAGCAGTGCTCACACCGATAGAGTGGCCGGCCAGAGGATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGTGAGTGACCTCAGCCAACCCTGCCTCTCCCACTAACCCTTCCTCTCTTCCAGCTCCTGGAGCCTCGGGCTTCTGTCTGCTGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGC | CCCCCGGCGGTGCCAACGCGGCCCTTCGTTGTTCCCAAGGCTGCGGCTGGAAGTTCGAGCCCCTGCTGGGGGAGGAGCTGGACCTGCGGCGCGTCACGTGGCGGCTGCCCCCGGAGCTCATCCCGCGCCTGTCGGCCAGCAGCGGGCGCTCCTCCGACGCCGAGGCGCCCCACGGGCCCCCGGACGACGGCGGCGCGGGCGGGAAGGGCGGCAGCCTGCCCCGCAGTGCGACACCCGGGCCCCCCGGAGGTGACAGGCTCACCCGCCGCCCCCCGATCCGCGCCCACCCAGCCTCACTCGCGCCTGAGGGCCTGGGGTGGGCGTCTGCGCTGCCTCGGGGGCCCCAGTTTCAGCCAGGCCCGGGCCTTGGCGGCTGGGAGCACAGCTGCTCAGAGGCAGGGCCCAGTGCCAGGGGACGCGTGAGGCAGGCGCTTGGGCCCTTATGGTGCCTGCCTGGCCAGGGGGTGCAAATTCAGAAGTCTGCCCGGGAAGCGGACCCTGGCACCCAAGTAGACCCCTCAGGGGCCTCAAAGGACAGGAGGGAAGGCTTGGGGATCTCCCCAGGGCAGAGCTGACTGCAGACGCAGCAAACCCCCGCCACTGCCAGGGTCAGCAGTGCTCACACCGATAGAGTGGCCGGCCAGAGGATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGTGAGTGACCTCAGCCAACCCTGCCTCTCCCACTAACCCTTCCTCTCTTCCAGCTCCTGGAGCCTCGGGCTTCTGTCTGCTGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCNN | pathogenic | 284,008 |
Benign or pathogenic: chromosome 17, position 75756420, gene GALK1 variant? Disease(s) if pathogenic? | benign | GATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGTGAGTGACCTCAGCCAACCCTGCCTCTCCCACTAACCCTTCCTCTCTTCCAGCTCCTGGAGCCTCGGGCTTCTGTCTGCTGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCT | GATATGGGCTGTGGAAGCCTGGGTGGCCCTTGGGCTCCTGCAGGGACAGAGGGCCTCTGTCCCTAGTGGTTTGAGGGAAACTGGTTGTATTTAAGCAAAAGCCACCCAGAGGGTGGGTGACCAGGAATGTGCAGGGCCCAGCCTGCCCCACGGGGCCCGGGTCTGGGGCAGGCCTGACCAAGGGACCCTGCTCTCCCCCTGCAGAGCACCTGGTGAATGGCCGGATGGACTTTGCCTTCCCGGGCAGCACCAACTCCCTGCACAGGATGACCACGACCAGTGCTGCTGCCTATGGCACCCACCTGAGCCCACACGTGCCCCACCGCGTGCTAAGCACATCCTCCACCCTCACACGGGACTACAACTCACTGACCCGCTCAGAACACTCACACTCGACCACACTGCCCAGGGACTACTCCACCCTCACCTCCGTCTCCTCCCACGGTGAGTGACCTCAGCCAACCCTGCCTCTCCCACTAACCCTTCCTCTCTTCCAGCTCCTGGAGCCTCGGGCTTCTGTCTGCTGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTN | benign | 284,012 |
Assess the variant on chromosome 17, position 75756944, impacting GALK1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Epidermolysis_bullosa,_junctional_5A,_intermediate', 'Junctional_epidermolysis_bullosa_with_pyloric_atresia'] | TGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTCCACCATGAGGCGGCCAAAGGCTCTGTAGTCGCCACGTCTCAGGGCGGCCGCTGCCTGGGCCGTGCGCCGAATCTCCCCCACCACGTGCCGGGCCCGCCGGAAGCCCTCTTTGCTCACCAGGTCCCTGGCAGCTGGGGAGGAAAGAGGAGTCAGCAGCCGCCTTCTCACTGCCTGGGGCCCCGACGCCTGTGAGGACCAGCAGGCGGTGATGGCAGTGGCCCTGGCTGGACGGTGAAGGGTGGAAGGCCGCGGGGGCAGGGCAGCCTGGCTCTCTCAGACGTGGGTCTGAAGAGCCCCTTTATCACAGTGCCTCCTCCCCCGACTGTAAAATGGGACACCTTGGTCCTTCAGGGAGCAGTGAGGGTTGAAACACTCCATGCTTTCCAAGGTGAGTGCTGCCCTCAAGAGGCCACCACAGAGCAGGAGGAGAAGAAGTTCTGCTGAGCCACATGGAGCCTCCAGGGCTGGGGCTCCAGAAGAGGGGGCAGAAGCAGCCAGGGACCAGCAGGCTGTCCCATCTGAC | TGTCCCCACCGCCCATTCTCCAACATACACACACGCATGCACACATGCACGCACACACGTGCACACGCATGCACACATGTACACAGACATGCATGCGCACACGTACACACATGCATGCACACTCCCTGCTCCTCTCACTCTTGTTTTGTCCTGCCCTAGGCCTCCCTCCCATCTGGGAACACGGGAGGAGCAGGCTTCCGCTGTCCTGGGCCCTGGGGTCCCGGAGTCGGGCTCAGATGAAAGGGTTCCCCCCTTCCAGGGGCCCACGAGACTCTATAATCCTGGCTGGGAGGCCAGCAGCGCCCTCCTGGGGCCCAGGTAGTACAGGGGTGGCCATCCTGTCTCCACAGCTGTCCTGCTCCATCTGTCATCCAGCCACCATAGCAGCCGCCAGCTGTGCCCACTGCTTCCCCTCCATTCCATCCACAGGACCCCCGCCTGCCCACAGGCGCTAACCACCTGCCCTACCATCAGTGCTGATGCCTAACTCTGCCTCTGCCCTCCCAGGGGGCGGGGCTGGGGCTGGGGCAGGAGAGGGGCCAGGCCAGCTGAGCAGTTGAGGGGGTGGGGCTGGCAGACTCACGGGGCTCACTCTCTTTTGGCACAAGCAGGGCCTGCACCCTGCTGGAGGATGTGCGGTAGGTGCTGGGCAGCCTGGACAGGGTGTTGCAGGGTGAGTGAGTTGTCCAGCCAGCGGTCAGTGTAGACATGCCAGCTGAGGGAGGGAGGTCAGGGGGCAGCACTGTGACTCCCACTGAGACCCTAGCCCCTGCATCTCTGGCTGACTGCGGCCTCCTGTCCCCAGACTCTCGCCTGACTGCTGGTGTGCCCGACACGCCCACCCGCCTGGTGTTCTCTGCCCTGGGGCCCACATCTCTCAGAGTGAGCTGGCAGGAGCCGCGGTGCGAGCGGCCGCTGCAGGGCTACAGTGTGGAGTACCAGCTGCTGAACGGCGGTGAGGCATGGTGGCTGCCAGGCTGCGGGGTGCAGCCCTGCAAGGCCTGGCCCCAGTGTGACACATAGGGTACCTCAGCTGTGTCAGGAACCCACCCAAGTCCCTTGAGCGCTAAAGCCCCCATCCAGCCTGAGAGGGTCTCCCACCCCATTCTCCACCCCACTTCTTTGCCTCCCCTCTTCTGAGGTCTCACCCACCTCCCTGGGCCTCTCTCCTGGTCATTCTCTGCTAGGTTTTGCCTAACAAGGCCCCTTTGGGCTGGGATCCTAGGGCCTCTGCTGGCCTGAGATGCCTTTGGGGGAACAAGGAAGTGGCACTTCCCTGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTCCACCATGAGGCGGCCAAAGGCTCTGTAGTCGCCACGTCTCAGGGCGGCCGCTGCCTGGGCCGTGCGCCGAATCTCCCCCACCACGTGCCGGGCCCGCCGGAAGCCCTCTTTGCTCACCAGGTCCCTGGCAGCTGGGGAGGAAAGAGGAGTCAGCAGCCGCCTTCTCACTGCCTGGGGCCCCGACGCCTGTGAGGACCAGCAGGCGGTGATGGCAGTGGCCCTGGCTGGACGGTGAAGGGTGGAAGGCCGCGGGGGCAGGGCAGCCTGGCTCTCTCAGACGTGGGTCTGAAGAGCCCCTTTATCACAGTGCCTCCTCCCCCGACTGTAAAATGGGACACCTTGGTCCTTCAGGGAGCAGTGAGGGTTGAAACACTCCATGCTTTCCAAGGTGAGTGCTGCCCTCAAGAGGCCACCACAGAGCAGGAGGAGAAGAAGTTCTGCTGAGCCACATGGAGCCTCCAGGGCTGGGGCTCCAGAAGAGGGGGCAGAAGCAGCCAGGGACCAGCAGGCTGTCCCATCTGACNNNNNNN | pathogenic | 284,021 |
Located at chromosome 17 position 75758221, the variant affecting gene GALK1 (galactokinase 1)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Deficiency_of_galactokinase'] | TGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTCCACCATGAGGCGGCCAAAGGCTCTGTAGTCGCCACGTCTCAGGGCGGCCGCTGCCTGGGCCGTGCGCCGAATCTCCCCCACCACGTGCCGGGCCCGCCGGAAGCCCTCTTTGCTCACCAGGTCCCTGGCAGCTGGGGAGGAAAGAGGAGTCAGCAGCCGCCTTCTCACTGCCTGGGGCCCCGACGCCTGTGAGGACCAGCAGGCGGTGATGGCAGTGGCCCTGGCTGGACGGTGAAGGGTGGAAGGCCGCGGGGGCAGGGCAGCCTGGCTCTCTCAGACGTGGGTCTGAAGAGCCCCTTTATCACAGTGCCTCCTCCCCCGACTGTAAAATGGGACACCTTGGTCCTTCAGGGAGCAGTGAGGGTTGAAACACTCCATGCTTTCCAAGGTGAGTGCTGCCCTCAAGAGGCCACCACAGAGCAGGAGGAGAAGAAGTTCTGCTGAGCCACATGGAGCCTCCAGGGCTGGGGCTCCAGAAGAGGGGGCAGAAGCAGCCAGGGACCAGCAGGCTGTCCCATCTGACTGGAGCTGAGGCTGGAGGGGTACCTGGGTCAGTACCAGTACTGACTCAGTGTACTGCGCCCGGCCAAACCCGCAGGTTTAAGGGGGAAGGTTGTTAGGGTAGGTGGCATGGCGGGATGGAGGGGCAAGTAGATTCAAAGGACTGAGAAATGAATGGGTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATTGCCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCCGGGCATCGTGGCAGGCGCCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGGCTCCCTCTCAAAAAAAAAGAAAGAAAGAAAGAAAGAAATGAATGGAAATGAGACAGTGGGTGGTGTTTTAGGAGGGAAGAAAACTGAGCATGTCTTGGAGGCTGAGGGAAGGAGCCAGGCAGCCAGGCAGGGGATGGAAGGAGAGGGATTGCGCTTCTAGGGCAGGACTCTGGAGGAGGCAGGGTGAGCTGCTCCTATGCAGAAGGAGACCTGGAGGAGGGGCAAGGACAGGCTGGGGTGGGGAGGAGGGACCAACTTGTTCCAGTGTGAAAACCTTGGCCAAGGGCATCTGCACAGAGCAGGCAGGGCAGGTCTGAGCACTGCTCTGGAGAACGTGACACAGTTCACAAAGGAAAAGGACAGGGAGGTCCCTCGGAGCTGTCTAGTGTCCCTGAGATAGGCACACCTACACTGCCAGGAAGGAACAACTCAGTGTGGGCAGCACGGCCAGCCAGTCAAGAGCATGGGCCCTGGAGCTAATCTGTCCAGATGGGGTTCAGATCCCAGCACTGCCTCTCACTGTAGATTCCCCCATCAAAAATATGACAACTATGGTAGCAGAATGTGCTTTACAGAGTTTTGGAGGGAATTAAATGAGCTAATATTGATAATGACCTTAAAACTGTCCAATAGACTACCTTCCTGGCCATGTGTAGCAGGAGCCTTAAGGATACTTGTATCTTTTTTGTTTTGGAGACAGGATCTCACTTTGAGGCCCAGGCTGGAGTGCCATGGTGCAATCACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAATTGATCCTCCCACCCCAGCCTCCTAAGTAGCTAGGACTACAGGCACACACCACCACACCTGGCTAATTTTTGTA | TGGGCAGGCACATTCAAAGCAGCATGACCAGGATGCAGGATGTTGCCTAAACATGAGTGGGATTACAGGCTCCACTCTTGTATAGTACACAATCTGAACAACCAGCCATACCATACTGTACCCAACCTGTACCCAAACCACAGCTAGTCCTGGGTGGGTGATAACTAGGTCTCGATGGCAGCTTAGGGACGAGGAGGATCAGGCCAGGGGTGGGAGTAACACTGCACTACTGTGTGCCCCCACCTGATCCCCCCAGGTGAGCTGCATCGGCTCAACATCCCCAACCCTGCCCAGACCTCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCCATGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTCCACCATGAGGCGGCCAAAGGCTCTGTAGTCGCCACGTCTCAGGGCGGCCGCTGCCTGGGCCGTGCGCCGAATCTCCCCCACCACGTGCCGGGCCCGCCGGAAGCCCTCTTTGCTCACCAGGTCCCTGGCAGCTGGGGAGGAAAGAGGAGTCAGCAGCCGCCTTCTCACTGCCTGGGGCCCCGACGCCTGTGAGGACCAGCAGGCGGTGATGGCAGTGGCCCTGGCTGGACGGTGAAGGGTGGAAGGCCGCGGGGGCAGGGCAGCCTGGCTCTCTCAGACGTGGGTCTGAAGAGCCCCTTTATCACAGTGCCTCCTCCCCCGACTGTAAAATGGGACACCTTGGTCCTTCAGGGAGCAGTGAGGGTTGAAACACTCCATGCTTTCCAAGGTGAGTGCTGCCCTCAAGAGGCCACCACAGAGCAGGAGGAGAAGAAGTTCTGCTGAGCCACATGGAGCCTCCAGGGCTGGGGCTCCAGAAGAGGGGGCAGAAGCAGCCAGGGACCAGCAGGCTGTCCCATCTGACTGGAGCTGAGGCTGGAGGGGTACCTGGGTCAGTACCAGTACTGACTCAGTGTACTGCGCCCGGCCAAACCCGCAGGTTTAAGGGGGAAGGTTGTTAGGGTAGGTGGCATGGCGGGATGGAGGGGCAAGTAGATTCAAAGGACTGAGAAATGAATGGGTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATTGCCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCCGGGCATCGTGGCAGGCGCCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGGCTCCCTCTCAAAAAAAAAGAAAGAAAGAAAGAAAGAAATGAATGGAAATGAGACAGTGGGTGGTGTTTTAGGAGGGAAGAAAACTGAGCATGTCTTGGAGGCTGAGGGAAGGAGCCAGGCAGCCAGGCAGGGGATGGAAGGAGAGGGATTGCGCTTCTAGGGCAGGACTCTGGAGGAGGCAGGGTGAGCTGCTCCTATGCAGAAGGAGACCTGGAGGAGGGGCAAGGACAGGCTGGGGTGGGGAGGAGGGACCAACTTGTTCCAGTGTGAAAACCTTGGCCAAGGGCATCTGCACAGAGCAGGCAGGGCAGGTCTGAGCACTGCTCTGGAGAACGTGACACAGTTCACAAAGGAAAAGGACAGGGAGGTCCCTCGGAGCTGTCTAGTGTCCCTGAGATAGGCACACCTACACTGCCAGGAAGGAACAACTCAGTGTGGGCAGCACGGCCAGCCAGTCAAGAGCATGGGCCCTGGAGCTAATCTGTCCAGATGGGGTTCAGATCCCAGCACTGCCTCTCACTGTAGATTCCCCCATCAAAAATATGACAACTATGGTAGCAGAATGTGCTTTACAGAGTTTTGGAGGGAATTAAATGAGCTAATATTGATAATGACCTTAAAACTGTCCAATAGACTACCTTCCTGGCCATGTGTAGCAGGAGCCTTAAGGATACTTGTATCTTTTTTGTTTTGGAGACAGGATCTCACTTTGAGGCCCAGGCTGGAGTGCCATGGTGCAATCACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAATTGATCCTCCCACCCCAGCCTCCTAAGTAGCTAGGACTACAGGCACACACCACCACACCTGGCTAATTTTTGTANNNNNNNNNNN | pathogenic | 284,041 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 75758518, gene GALK1 (galactokinase 1): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_galactokinase'] | TCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTCCACCATGAGGCGGCCAAAGGCTCTGTAGTCGCCACGTCTCAGGGCGGCCGCTGCCTGGGCCGTGCGCCGAATCTCCCCCACCACGTGCCGGGCCCGCCGGAAGCCCTCTTTGCTCACCAGGTCCCTGGCAGCTGGGGAGGAAAGAGGAGTCAGCAGCCGCCTTCTCACTGCCTGGGGCCCCGACGCCTGTGAGGACCAGCAGGCGGTGATGGCAGTGGCCCTGGCTGGACGGTGAAGGGTGGAAGGCCGCGGGGGCAGGGCAGCCTGGCTCTCTCAGACGTGGGTCTGAAGAGCCCCTTTATCACAGTGCCTCCTCCCCCGACTGTAAAATGGGACACCTTGGTCCTTCAGGGAGCAGTGAGGGTTGAAACACTCCATGCTTTCCAAGGTGAGTGCTGCCCTCAAGAGGCCACCACAGAGCAGGAGGAGAAGAAGTTCTGCTGAGCCACATGGAGCCTCCAGGGCTGGGGCTCCAGAAGAGGGGGCAGAAGCAGCCAGGGACCAGCAGGCTGTCCCATCTGACTGGAGCTGAGGCTGGAGGGGTACCTGGGTCAGTACCAGTACTGACTCAGTGTACTGCGCCCGGCCAAACCCGCAGGTTTAAGGGGGAAGGTTGTTAGGGTAGGTGGCATGGCGGGATGGAGGGGCAAGTAGATTCAAAGGACTGAGAAATGAATGGGTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATTGCCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCCGGGCATCGTGGCAGGCGCCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGGCTCCCTCTCAAAAAAAAAGAAAGAAAGAAAGAAAGAAATGAATGGAAATGAGACAGTGGGTGGTGTTTTAGGAGGGAAGAAAACTGAGCATGTCTTGGAGGCTGAGGGAAGGAGCCAGGCAGCCAGGCAGGGGATGGAAGGAGAGGGATTGCGCTTCTAGGGCAGGACTCTGGAGGAGGCAGGGTGAGCTGCTCCTATGCAGAAGGAGACCTGGAGGAGGGGCAAGGACAGGCTGGGGTGGGGAGGAGGGACCAACTTGTTCCAGTGTGAAAACCTTGGCCAAGGGCATCTGCACAGAGCAGGCAGGGCAGGTCTGAGCACTGCTCTGGAGAACGTGACACAGTTCACAAAGGAAAAGGACAGGGAGGTCCCTCGGAGCTGTCTAGTGTCCCTGAGATAGGCACACCTACACTGCCAGGAAGGAACAACTCAGTGTGGGCAGCACGGCCAGCCAGTCAAGAGCATGGGCCCTGGAGCTAATCTGTCCAGATGGGGTTCAGATCCCAGCACTGCCTCTCACTGTAGATTCCCCCATCAAAAATATGACAACTATGGTAGCAGAATGTGCTTTACAGAGTTTTGGAGGGAATTAAATGAGCTAATATTGATAATGACCTTAAAACTGTCCAATAGACTACCTTCCTGGCCATGTGTAGCAGGAGCCTTAAGGATACTTGTATCTTTTTTGTTTTGGAGACAGGATCTCACTTTGAGGCCCAGGCTGGAGTGCCATGGTGCAATCACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAATTGATCCTCCCACCCCAGCCTCCTAAGTAGCTAGGACTACAGGCACACACCACCACACCTGGCTAATTTTTGTATTTCTTTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAATTCCTGAGCTCAATGAATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCACAGACGTGAGCCACCGCACCCAGCCTACAATACTTGTGTCTCTTGACTCTGTAATCCTACTCCTAAGAATCCATTTCTAAGAAACTATTAAGAGAATGCAGATAGGCCAGGTGTAGTGGCTCACGCCTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTCCAA | TCGGTGGTGGTGGAAGACCTCCTGCCCAACCACTCCTACGTGTTCCGCGTGCGGGCCCAGAGCCAGGAAGGCTGGGGCCGAGAGCGTGAGGGTGTCATCACCATTGAATCCCAGGTGCACCCGCAGAGCCCACTGTGTCCCCTGCCAGGTGAGTTGCCTCCCCCAGCCCCAGAGCTGCCCCCATCATGCCCACCACCCACCCACAGGCTGATGCTCTTCCTCTACTGCCCCCAGGCTCCGCCTTCACTTTGAGCACTCCCAGTGCCCCAGGCCCGCTGGTGTTCACTGCCCTGAGCCCAGACTCGCTGCAGCTGAGCTGGGAGCGGCCACGGAGGCCCAATGGGGATATCGTCGGCTACCTGGTGACCTGTGAGATGGCCCAAGGAGGAGGTGCTGCCCACCCCGGGGGCAGGAGTGGCCAGGGGAGGGGTAAAGAGGGGGCCGCAGACGCTGAAGGCATCTTCCCTGCTCAGGGCCAGCCACCGCATTCCGGGTGGATGGAGACAGCCCCGAGAGCCGGCTGACCGTGCCGGGCCTCAGCGAGAACGTGCCCTACAAGTTCAAGGTGCAGGCCAGGACCACTGAGGGCTTCGGGCCAGAGCGCGAGGGCATCATCACCATAGAGTCCCAGGATGGAGGTAGGCACCTGTCCTTTCCTTCACCCCCACCCCTCCTCGGGCCGTGCCTCCTTCTGGCACCACCCTCTGACTGGCCTATCTGCCCACCCCAGGACCCTTCCCGCAGCTGGGCAGCCGTGCCGGGCTCTTCCAGCACCCGCTGCAAAGCGAGTACAGCAGCATCACCACCACCCACACCAGCGCCACCGAGCCCTTCCTAGTGGGTGAGCACTGAGGGCTAGGGGATCCCGGCTCTCCTGGGACAGGGAGCTAGCAGAGGGAGAAGGGCAGACCCCAAGCCAGGTCATCTAATGCCTCCTCCTCCACAGATGGGCTGACCCTGGGGGCCCAGCACCTGGAGGCAGGCGGCTCCCTCACCCGGCATGTGACCCAGGAGTTTGTGAGCCGGACACTGACCACCAGCGGAACCCTTAGCACCCACATGGACCAACAGTTCTTCCAAACTTGACCGCACCCTGCCCCACCCCCGCCACGTCCCACTAGGCGTCCTCCCGACTCCTCTCCCGGAGCCTCCTCAGCTACTCCATCCTTGCACCCCTGGGGGCCCAGCCCACCCGCATGCACAGAGCAGGGGCTAGGTGTCTCCTGGGAGGCATGAAGGGGGCAAGGTCCGTCCTCTGTGGGCCCAAACCTATTTGTAACCAAAGAGCTGGGAGCAGCACAAGGACCCAGCCTTTGTTCTGCACTTAATAAATGGTTTTGCTACTGCTAGGCCCTGCCTTGCCCATTCTTCTGGGGCCTGAGAGGTGCTCCCCTAGGGTAGGGGAGCGGTTCTGACATCCCCCATTCTCTGACACCCAAGCATACACCCACCTCTAGAGGAGGCAGGTACCACATTGGAGGCACAAGTTTATTGAGCACCCGGATATGGAAGATGGCACCGGGCACAGAGCCGTGGGACTGGCCTGCAGGCCCCGCACCCTCACCGTGTGCTGTCCTGGGGGTGCCTCACAAGCACAGCACCTTGGCTCCATCGGCTGCTTGAGAGAGGTAGAAGGTGGCAGTCCCGCCGTAGTGCTCCTGTAAGAGGCGGGCTGGGGGTGAGTGGCAGGGCCCCGGGAAGCTGCCGCTCCTGCCCGCCCAGGCCCTGGTGCCCGCCCACCTGGATGTGCCGCATGGCGTGGGGAGCAGCGGAGGCCTCCAGCAGTGTCACCGTGCAGCCACCGAAGCCACCGCCCGTCATGCGGCTGCCATAAACCCCAGGCACAGCAAGCGCAGCCTCCACCAGCTGGTCCAGCTCTGGGCAGCTCACCTCATAGTCGTCTCTGCAGAGAGGATATTGAAGGGGTGGGCCTGGGCCGGCCTGTGCCCGGCAGGAGCGGGGCGCCCAGAGGGCCTCACCTGAGTGAGCGGTGGCTCTCCACCATGAGGCGGCCAAAGGCTCTGTAGTCGCCACGTCTCAGGGCGGCCGCTCCCCCACCACGTGCCGGGCCCGCCGGAAGCCCTCTTTGCTCACCAGGTCCCTGGCAGCTGGGGAGGAAAGAGGAGTCAGCAGCCGCCTTCTCACTGCCTGGGGCCCCGACGCCTGTGAGGACCAGCAGGCGGTGATGGCAGTGGCCCTGGCTGGACGGTGAAGGGTGGAAGGCCGCGGGGGCAGGGCAGCCTGGCTCTCTCAGACGTGGGTCTGAAGAGCCCCTTTATCACAGTGCCTCCTCCCCCGACTGTAAAATGGGACACCTTGGTCCTTCAGGGAGCAGTGAGGGTTGAAACACTCCATGCTTTCCAAGGTGAGTGCTGCCCTCAAGAGGCCACCACAGAGCAGGAGGAGAAGAAGTTCTGCTGAGCCACATGGAGCCTCCAGGGCTGGGGCTCCAGAAGAGGGGGCAGAAGCAGCCAGGGACCAGCAGGCTGTCCCATCTGACTGGAGCTGAGGCTGGAGGGGTACCTGGGTCAGTACCAGTACTGACTCAGTGTACTGCGCCCGGCCAAACCCGCAGGTTTAAGGGGGAAGGTTGTTAGGGTAGGTGGCATGGCGGGATGGAGGGGCAAGTAGATTCAAAGGACTGAGAAATGAATGGGTGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATTGCCTGAGGTCAGGAGCTCGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAAGTTAGCCGGGCATCGTGGCAGGCGCCTGTAATCGCAGCTACTCAGGAGGCTGAGGCAGGAGAATTGCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGTGGAGATCATGCCACTGCACTTCAGCCTGGGTGACAGAGTGAGGCTCCCTCTCAAAAAAAAAGAAAGAAAGAAAGAAAGAAATGAATGGAAATGAGACAGTGGGTGGTGTTTTAGGAGGGAAGAAAACTGAGCATGTCTTGGAGGCTGAGGGAAGGAGCCAGGCAGCCAGGCAGGGGATGGAAGGAGAGGGATTGCGCTTCTAGGGCAGGACTCTGGAGGAGGCAGGGTGAGCTGCTCCTATGCAGAAGGAGACCTGGAGGAGGGGCAAGGACAGGCTGGGGTGGGGAGGAGGGACCAACTTGTTCCAGTGTGAAAACCTTGGCCAAGGGCATCTGCACAGAGCAGGCAGGGCAGGTCTGAGCACTGCTCTGGAGAACGTGACACAGTTCACAAAGGAAAAGGACAGGGAGGTCCCTCGGAGCTGTCTAGTGTCCCTGAGATAGGCACACCTACACTGCCAGGAAGGAACAACTCAGTGTGGGCAGCACGGCCAGCCAGTCAAGAGCATGGGCCCTGGAGCTAATCTGTCCAGATGGGGTTCAGATCCCAGCACTGCCTCTCACTGTAGATTCCCCCATCAAAAATATGACAACTATGGTAGCAGAATGTGCTTTACAGAGTTTTGGAGGGAATTAAATGAGCTAATATTGATAATGACCTTAAAACTGTCCAATAGACTACCTTCCTGGCCATGTGTAGCAGGAGCCTTAAGGATACTTGTATCTTTTTTGTTTTGGAGACAGGATCTCACTTTGAGGCCCAGGCTGGAGTGCCATGGTGCAATCACAGCTCACTGCAGTCTCAACCTCCTGGGCTCAATTGATCCTCCCACCCCAGCCTCCTAAGTAGCTAGGACTACAGGCACACACCACCACACCTGGCTAATTTTTGTATTTCTTTAGAGATGGGGTTTTGCCATGTTGCCCAGGCTGGTCTCGAATTCCTGAGCTCAATGAATCTGCCCACCTTGGCCTCCTAAAGTGCTGGGATTACAGGCACAGACGTGAGCCACCGCACCCAGCCTACAATACTTGTGTCTCTTGACTCTGTAATCCTACTCCTAAGAATCCATTTCTAAGAAACTATTAAGAGAATGCAGATAGGCCAGGTGTAGTGGCTCACGCCTGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCGGATCACTTGAGGTCAGGAGTCCAANNNNNNNNNNNNNNNNNNNNNN | pathogenic | 284,050 |
Evaluate the clinical significance of the mutation at chromosome 17, position 75762786 in gene GALK1 (galactokinase 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Deficiency_of_galactokinase'] | TGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACGACCAGCCCGACCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTCTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTGCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAAATAAATAAATAAATAATAAAAAAGATAAATAAAAAAAGTTAATCACAGTGTGAGGTGTATCAGAAAATAGTTAAGTAAATGACAGAGCACCTGAATGCTAAAATATTGTGGAGCTTTAAAGAGCCACACGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCG | TGCGCTCCAGCCTGGGCTACAGAGCAAGACTCAGTCTCAAAGAAAAAAAAGAGAATGCAGATAAACCGGGTGCCTTTGGTTGCAGCTACCCAGGAGACTAGGTGAGAAGATTACTTGAGCCCAAGAGTTCAGGTCCAGCCTGGGCAACTTAGCAGAACCCATCTCTTTAAAAAATAAAAAAGATGGCCAGGCACAGTGGTTCATGCCTGTCATCCCAGTACTTTGGGAGGCTGAGGTGGGCAGATCACCAGGTCAGGAGTTCACGACCAGCCCGACCAACATGGTAAAACCTCATCTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGCACATGCCTCTAATCCTAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATCGTGCCACTGCACTGCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAATAAATAAATAAATAAATAATAAAAAAGATAAATAAAAAAAGTTAATCACAGTGTGAGGTGTATCAGAAAATAGTTAAGTAAATGACAGAGCACCTGAATGCTAAAATATTGTGGAGCTTTAAAGAGCCACACGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGN | pathogenic | 284,056 |
Determine whether the variant at chromosome 17, position 75763384, in gene GALK1 (galactokinase 1) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Deficiency_of_galactokinase'] | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGC | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAG | pathogenic | 284,064 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 75763384, gene GALK1 (galactokinase 1): what disease(s) if pathogenic? | pathogenic; ['Deficiency_of_galactokinase'] | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGC | CGGAGGCCAGGTGCAGTGGCTCACACATGTAATCCTAGCACATTGGGAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCN | pathogenic | 284,065 |
The mutation impacting GALK1 (galactokinase 1) on chromosome 17 at position 75763430: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Deficiency_of_galactokinase'] | GAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCC | GAGGCTGAGGCGGGCAGATCACGAGATCAGGAGTTCGAGACCAGCCTGGCCAACATGAAACCCCGTCTCTACTAAAAATATAAAAATTGGCTGGGCGTGGTGGTGGGTGCCAGTAATCCCAGCTACTCAGGAAGCTAAGGCAGGAGAATCATTTGAACCCAGGAGGTGGAGGATGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCAACAGGGCAAGCCTCCACCTCACCAAAAAAAAAAGAAAAAAAAAAAAAAAGAGCCACACCGAGATATGCCTTTCATGGCATAAGATAAGATAGGGTTCTGGGTTCTGAGATTATGTTTAGTTTAAAAAAAAAAAAAAAAGAGACCGGCACTATGGCTCACGCCTGTAATCCCAGCACTTTGGAAGGCTGAGGCGGGAGGATCACCTGAGGTCAGGCGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCAGTCTCTACTAGAACTATAAAAAATGTGCCAGGCGTAGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATCGCACCATTGCACTCCAGCATGGGTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCN | pathogenic | 284,066 |
Variant at chromosome position 75764045, chromosome 17, gene GALK1 (galactokinase 1): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Deficiency_of_galactokinase'] | GTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCTGGCGCTGGTGACTTTCTATGTGCCTCACCACCCACCACCACCCACACAGCCAGAGCAATGGAGCTGGCACCCGGTTGACCTGGGATTCCCAAAGGGATCCCCTAGGTCCCCAGGGCCAGCAGCTGTGAGAGGTCATCAGCCTCTGATCACCGGTCTCCAAGAGGGTGACCTGACACTCACTGTAAGTAGAGATAAAGACAGACAAGTTTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTTCGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGACAAGTTTGGTGGTGACCAGAGAGTCAATTTTACAAGCTCCTTTTCTAGGTAATACGCAACAGCTCCTAGCAATGGAGAATTGGACTAGGGTGGCGGTGGCCAGCAGT | GTGACAAGACCGAAACTCTGTGTCCAAAAAAAAAACACGGCAAATGGGCTGGGCGCAGTGGCTCATGCCTATAATCCCAACACTTTGGGAGGCCAAGGCAGGAGGACCACTTGAGGCCAGAGTTCAGGATCAGCCTGGGCAACACTGCAAGACCGTCTTTACAAAGATAAAAATTAGCCGGGCATGGTGGCACACCTGTAATCTCAGCTACTTGGAAGGCTGAGCTGGGAGGATCCCTTGAGCTCAAGAGTTCAAGTTTGCAGTAAGCTATGATCACACCACTACACTCCAGCTTGGGCAACAGAATGAGACCCTGCCTCTTAAAAAAAAGGGGGTGGGGGGGGAAAGTGATGATATATTACATATACTCAGCTTTGAAGACAGATGTGGAAAAATACTGAAAGGAAACGTGAAAATGTCAGCAGTGGCTATCTCTGGGTAGTGGCCTTATAGCTTATTATTTTCTACTTTGTACTTTTCTACATTTTCCACAATGGAAACATGATTTTTCTGATTAGATAAGACCATTTTAGGATTTCAAGCAGCCCTGCTGAGATTGGAACCCTGGGTGCGCAGTGTTTGAAGGGACTGGGGAGAGCATGGCAGAAGGCCCTGGAGATCGGGGTCCCAGGCAGGGTCAAGGCCACACTGAGGCGCCAGCAGGGAGCACAGCCGCCTCCAGGATAGAGCACCCTGGCAGTTCTCACCCTCTAGCTCTTCCAGTTGTACCTCCCGGAGGCTTTCCTTGCCCAGCGCCCGGGCCACTTCTTCACATTGGCGCCGCCGCACAGGGTACTCGCTGGAGGCCAGGGAGTGGCGGACATTAGAGTTGGTGATGAGCACGGCCAGCTTGGGGTCCGAGAGTGGCACCAGGCTGGTCTCCAAGGACCTGGGGTGGAGTTACAATGGGGGAGATGACGAGGCCAAGCGTGTGCTTGCTGCGCCAGGCAGTGGGCACACTCCCACCCAGGAGCTGCTGAGTGCAGGGCGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCTGGCGCTGGTGACTTTCTATGTGCCTCACCACCCACCACCACCCACACAGCCAGAGCAATGGAGCTGGCACCCGGTTGACCTGGGATTCCCAAAGGGATCCCCTAGGTCCCCAGGGCCAGCAGCTGTGAGAGGTCATCAGCCTCTGATCACCGGTCTCCAAGAGGGTGACCTGACACTCACTGTAAGTAGAGATAAAGACAGACAAGTTTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTTCGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGACAAGTTTGGTGGTGACCAGAGAGTCAATTTTACAAGCTCCTTTTCTAGGTAATACGCAACAGCTCCTAGCAATGGAGAATTGGACTAGGGTGGCGGTGGCCAGCAG | pathogenic | 284,073 |
Variant at chromosome 17, position 75765033, gene GALK1 (galactokinase 1): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Deficiency_of_galactokinase'] | CGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCTGGCGCTGGTGACTTTCTATGTGCCTCACCACCCACCACCACCCACACAGCCAGAGCAATGGAGCTGGCACCCGGTTGACCTGGGATTCCCAAAGGGATCCCCTAGGTCCCCAGGGCCAGCAGCTGTGAGAGGTCATCAGCCTCTGATCACCGGTCTCCAAGAGGGTGACCTGACACTCACTGTAAGTAGAGATAAAGACAGACAAGTTTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTTCGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGACAAGTTTGGTGGTGACCAGAGAGTCAATTTTACAAGCTCCTTTTCTAGGTAATACGCAACAGCTCCTAGCAATGGAGAATTGGACTAGGGTGGCGGTGGCCAGCAGTGGGCCCAGCCCCTCCCTTAAGGACCTGCCACAGCTGTCCAGGTAGGTTGTGCTGTTGGCCCCAGCAGGCACTACTTCAGCCCAGAAGCCCTTGTCTCAGAGGCGTGGCCTTGTTCCCAGTCAGGCACTCTTCTCTTGCTATCCTGCATCCTAAACCTGCTGGCCGGCCCCAACTGCTGCCTTGATACCTGTCCACAGCTGCCCACCCTACATGGAACCTTGAAACTGAAAGACTGAAATGTAAGCAGCTTGCTTGGGGTTAGGGTGGGAGTAGTGTGGGGAGTTATGGCCAGGGATTTAGCTTGGGGCCTGCTCAGGGGTGTGCCCAAAGAGTGGGGAACTGCATTCCAAGGGCAATTCTGAAAACTCTTAGAAGAAAACATAGGGGTACAGTTTTGTGACATTGGTTAGGAAATGTTTATTTGGTTTCTGTTTTTGAGACGGAGTTTCGCTCTCGTTGTCCAAGCTGGAGTGCAATGGCGTGATCTCAGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACTGGGGTTTCACCAGGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACACCTAGTCATGTTTTTTTATTTTTATTTATTTACGTATTTATTTATTTTAGACAGATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGATTACAGGCACCCTCCACCATGCCTGGATAATTTTTGTAAAAGCAGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAAGTGATTTGCCTGCCTCAGC | CGGGAGGGGACGAGGGGAGCGAGCCCAACCTGCAGTCAATGAGCAGCGCGTGGCCTTTCTGTCCCATAAGTGAGATGAACTGGTCCATGATGCCACAGGGCATCCCTGCGAAGCTGTGCTCGGCCTGCTGACACACCTGGGCGCGGGCAGCTATTGTGCCCGAGTCTGCAGTACAGGGTGAGGTGGGGAGGCTAGGGCTGGTGGAAGCAGCAGTGGCTTCAATGACACTCCAGGGAGAGTCCCTGCCACCCCCTCCATAAGGCATAGTAGAAGCTGGGACCACCTGGAGACCTCAGGGAAGGAGGGCTGGGTCAGGGCTGGGGCCTAGCTGGTACCTGGACAGAGCTGCTGGAGGAAGGTGTACGTGGCCACTTCCAAGGATGCTGAGCTGGACAGGCCACCCCCCAGGGGCACTGAGCTGACCACCACTGCACTGAAGCCAGGGAGGGGGGCAGCTGCAGGGGAAAGAACAGGTGATGGTAAGAGGGGCTGCCTGGGAGGATGGCACAGGAAGGGCAGGTGTCCTGGCGGGAAGGGCAGCAACGGCCTAGCAGCTGTTTCTAGGGTGTGTGTCTCAATTGTCAGAAGCCACCAACCTGCTGGGCCAAGGGACCCACTGCCCTCCATTTTCCCACCCTCTGAGGTTGCTGGGACACTTCTAATTGTCCTCCTGGTTTAGGGCTCTGGAGGGAAAAAAGGCTGGGGTTCAAATCCTGGCTCCTCCAATCAGGTCACGGGAAACCCAGGGCAAGTTCCCGACCTTCTGGGGGCATCAGTTTCCTCATCTGTACAATGGGATGCTCCACTCTACAAGCCTTCCCCACAGTGTATCAGACAAATGAATGGGCTCTGTGGCTGTGAGGTGGCACTCCTAGTATCAGTGAGGACTTGGCTCAGGCCTGGGCCCCATACCTGGGTAGTACTGAATCACTCCCTTGACATAGTTGGCCCACCGAGGAGTCCCAGGCTCCAGCGAGCGCTGGGCTGTGGGCAGTGGAAACTGCAGCCGCTGGGGCTCATCGGCACCCTCAGAGGTGGTGAGGAGAGACACCAGCCCATCCTTGCGGGGGCTGCCCACCAGCACCGTCATGAGCTCCAGAGCCTGGCAGGAGAGACAAGCAGTACGTGAGGCTTCCGCCAGCTGGAGTAAGCCTCTCCAATGACACTGCCTCCAGCCGAGGTTCTGATGCCTCCACAGTCATCAGGTTCTGAACCTCCAGGTTCAGCGTCGCAGGGAAGATCCTGAGGGCCAGCTGACCTTGGGGGCTTGAGCCCTGCCCCCTTAGGTCTTCAGGGGCGGGGCGGCTGCAGCTGGAGCACAGACCTGGACTCTGCCCTGAGCTGTGGGGCAAGGGGGAGAGCTAGCCCAAAGGGAAAACAGATCACTGGAGCTCCAAAGCCTTTACATTTTGGGGTGGCTCTGGACATCCTGTACCTGTGCACTCCCCAAGCTGCAGATGGGGCGGAAAGCGCCCCCCGCTGAAAGCTGGGAGTCCTCACTCCCAAGTCGCAGCCCCGCCAAGAACCTGCTGTGTGACCTCCAGCAGTTCACTGGGCCTCTCTAGGCCTCAGTTTCCTCCTCTGTAAATTGAACGGGCTGGGCCAGAAGGCTACGTTCGCCCAGGTCTGCGGTTGGGGCCCCACGGTGGCCGGAGGCGCGGAGTGTCCCCTTCTGCGTGGCACACAGGGCCTCACAGTTTAAGGGGAACATGCTCCCAGGTTGAAGGCGAGGAGCCCCAGCCCCCAGAGGGCGGGCTTGAGCCAAGAGGCGGCCGCGCACCCTCTCCCGGCCACTTCCTCGCTTCCTCCCTTCCAACGTGGGGAACAGCCTGTCCCGGGGACTCTTCCGTGCACCGGTGCTCCAGGCGCAGCTGCCCGCCCCACATCTCCCGCGGGAAGAACTCGCCCCCAGCGTCCCCGAGGCCCGCCCTCCTCGGCGGCCGGGACAGGCGGCGGCGGGCTAGGGGCTCCCCGTGCAGCCCCTCACCATAGGCAGCACCAGGCCCTGGTTGTAGTCCGTGTGTTCCCCGATGAGGTTGACGCGGCCCGGCGCGCTGACACGGCCAGCTCGGGCTCGGCCCCGAACTCCTCCCGGAAGGCTCGCCGGGCCTCGGCCAGCAGCTCCGCGACCTGGGGCTGTCTCAAAGCAGCCATGACGCGCGCCTGCAGCTCTGCACAGCTGCTCCGGCACAGCCCCGTCGGCGCGGGATGCTCGGGCGGGGCCCCGCGCGGGGGTGCGCACATTCCCGCCAGCCCCGCCCCGCGCCCGGACGCCCCGCCCCCAGACCTCAGCCGGTTCCGCCCCCACCCGCAACTCCCGTGGGAATCCAGCTGCTGGGTGGTGGGTGGCAGGGGCTAATGGTGCCGGGTGGGATACAGCGCCCCCGATGGTGTCCTTCCCTCTGGACTTCGGGAAGAACCAATGAGCACTCACTAGAGTGAGAATAGCCCTGAGTGGCACTTGGCATGACCAGGATTTCTGAGCTGCCCTTCCCTGGCGCTGGTGACTTTCTATGTGCCTCACCACCCACCACCACCCACACAGCCAGAGCAATGGAGCTGGCACCCGGTTGACCTGGGATTCCCAAAGGGATCCCCTAGGTCCCCAGGGCCAGCAGCTGTGAGAGGTCATCAGCCTCTGATCACCGGTCTCCAAGAGGGTGACCTGACACTCACTGTAAGTAGAGATAAAGACAGACAAGTTTGGGCCGGGCGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGTGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAAATACAAAATTAGCTGGGCATGGTGGCTCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTTCGGTGAGCTGAGATCACACCATTGCACTCCAGCCTGGGCAACAAGAGCAAAACTCTGTCTCAAAAAAAAAAAAGACAAGTTTGGTGGTGACCAGAGAGTCAATTTTACAAGCTCCTTTTCTAGGTAATACGCAACAGCTCCTAGCAATGGAGAATTGGACTAGGGTGGCGGTGGCCAGCAGTGGGCCCAGCCCCTCCCTTAAGGACCTGCCACAGCTGTCCAGGTAGGTTGTGCTGTTGGCCCCAGCAGGCACTACTTCAGCCCAGAAGCCCTTGTCTCAGAGGCGTGGCCTTGTTCCCAGTCAGGCACTCTTCTCTTGCTATCCTGCATCCTAAACCTGCTGGCCGGCCCCAACTGCTGCCTTGATACCTGTCCACAGCTGCCCACCCTACATGGAACCTTGAAACTGAAAGACTGAAATGTAAGCAGCTTGCTTGGGGTTAGGGTGGGAGTAGTGTGGGGAGTTATGGCCAGGGATTTAGCTTGGGGCCTGCTCAGGGGTGTGCCCAAAGAGTGGGGAACTGCATTCCAAGGGCAATTCTGAAAACTCTTAGAAGAAAACATAGGGGTACAGTTTTGTGACATTGGTTAGGAAATGTTTATTTGGTTTCTGTTTTTGAGACGGAGTTTCGCTCTCGTTGTCCAAGCTGGAGTGCAATGGCGTGATCTCAGCTTACTGCAACCTCTGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCGGAGTAGCTGGGATTACAGGCACGTGCCACCATGCCCGGCTAATTTTTTGTATTTTTAGTGGAGACTGGGGTTTCACCAGGTTAGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTTAGCCACCACACCTAGTCATGTTTTTTTATTTTTATTTATTTACGTATTTATTTATTTTAGACAGATCTTGCTCTGTTACCCAGGCTGGAGTGCAGTGGCGCGATCTTGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCCAGTAACTGGGATTACAGGCACCCTCCACCATGCCTGGATAATTTTTGTAAAAGCAGGGTTTCACCATGTTGGCCAGGCTGCTCTTGAACTCCTGACCTCAAGTGATTTGCCTGCCTCA | pathogenic | 284,077 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 75828790, gene UNC13D (unc-13 homolog D). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_3', 'UNC13D-related_disorder'] | GCATGGTCTCGGGCCTTGGATGTCATCTCAGCTAACCTCGACTCCTGTCCTCATTTTGTGCAGACTCAGAGGTTCCGACATGGAACCAGGGTCACACAGCTAGGATGACGTGATGACCAGGCCTCAGGTTCTGACACCCCCCAGGCAGGGGAGGGACCCAGCTCCTCTACGCCCTACTGTCTCAAGAGCAGCCCCTCAGCCTCAACCTGCACCCCTGGGAGGCCCCTGCTCACTGTGCTCCCCCGAGGAACGGGTCCCTGTCCTGGGTGTCACCACAGGAACTGGTATGCCTGGTAAAGCAATTTATTCAAAGCCCACGGCCAAAAATCACCCTAGCCCTGCCTCTGCCTCAGTTATTTCCACACCTACCCCCCTGCTTTGTAGCTACCCCAAGGTGGCGGTAGCTCAAAGTCCCCTGAGGGCTGGGGAGGAAGCTACCCGGCCTGGCTCGCATTCCAGGCCCCACTGTAGGCCAAAGGCATATTTTAAGAGGACAATGGATTTGTTTTTATTAATTTTTTTGCTAAGAAAGTTTCTAGGTGGCAGGTGCTGTCCGGGGAGGGGGCGTGCGCAGCAGACACAGCAGCCAAACTGTCCTTTCTGCTTCCGTCTGTCTGTGCCAGCCCTGCCGCCTGCCAGCTCTTGCTCCCTCAGAGCCAGAAGGTTCTTGGCTCCAGGCTTCCTGGCCTGGATGCTGGCAGCCCCTGGGGAGAGGACCCAGGCCCCCTCTAGTAATGGCCACCACCCTCCCCCCAGGGCAGCTGGAGCCTCATCTTTGGCAGGGTCCCCTCTCCCTTTTCCAGGAGACTCTGTGCCTGTAGCCCTGGTCCCAGTGAACCTGGCCCCCACCCCAGTGGCTGGAACAGGAAGGCCAGGAGGCAGATGGGCCAGGGCCAGGAGACAGATGGCCCAATCCCCTGCCCACCACAGCAGCTTTTCTGAGAGGCGGGCAGGGGCAGGGTTTGCTCCCCCTGGTGCTGGGATGTGGTAGAGACATTGCAGCCAGGGCTGGAGGCAGGGAGGCGGGAGTAGAGATGTCGCTGCTGAGCCCCCATCACCATGGGAGGCAGGGGAGGTCTGCACTCTGGGCACTCCGCATGCTGGGGCTCCCCAAGTGTTAGGCCAGGCTGGAGGGCCGCGATGTGGCGGGGAAGCCCCAGACCCTACAGGAAAGCCCTTGCAAGTCCCCACCGGGGACCCAGCCCCACCGCAAACCTCTACGGCTACGGTGCCGGCCGCAAGGCATGCTGGGAGGCCTGCTTGGCCCGGTGCCGCCGCAGCCTCACAAAGACCTGGGCTTCTCGGTCACCCTTCCGGCCCTCCAGCAGCTGCAGGATTGGGTCCCCTGCGGAGAGAGGGGTTTGGGGGTCAGATGCCAGGGGAGAGGGCAGTGCCTGGTGGTGGCAGAGAAGAGTGTGTGGGGGGGTACACAACACTGCTCCATCTCCCCAACAACCTGGAAGGAAACAAGTGACAGACCCGCGCCAGCCCAGCCCAGGAGGTGGTCTGACAGACGCATCCGGTCGGGTCGCGTAACAGACAGAGTGCTGCTGGGACACTGTCCTGACTGCAGCGAGGGGCTGAGATGTGCCTGAGGTTTGACTATTACCTTTTTATACGAGAACCTAAAGCTAGCAAGTTAACCTTTTCATGCCTCGGTTTACTCATCTGTAAAAGAGTGCTAATATCTGCTTCGTTGGCTGGAATGCATAAAGTGCTTAGCACTTGCTCATAATAAGTGCACAAGCATCAGACCGTTGCTGGTATCAAAAATGCTCTGCAGGGAAGCGGCCCCGCCGAGTGAGATCCAGGCCCTTCTCCCCAGTTAAACTTCTTGGTGACTTCCCCATGCAAGGAGAGTCACGTTACACTTAGCTTAAAGTTCACTGGTCTCTTGATTAGACCGAGAGATGGGCCGTGGCTGTCCCACTGGCTCCCGTCTCCAGGGAAGCTGTTCTCCGACCCTGGCATCACCTCTCTGGGGCCCCTGCCTGAGCTTTACAGGCTCCCGTCCCCGCACCACCCTGCCCTGGGCTCAGGCCTACCGTTGGGTGCGGGGTACGTGAGGGGCAGGCGGGTCTGAGGCACCTCACCAGGCTCCTCAGAGCCACTCAGCCCGGGCACCTCACGCAGCGGCAGGAAGGCCTCGCCTTCCAGGTCGTCGGCCCCCAGCGTGTCGTAGTCCAGCACGGTGAGCAGGAGGCATGCCCCAGCCTTGCGGCACGGCTCAGCAGGCACCAGGCTGCGGGGAGAGTCAGGGCTCTGCTGCCAGCCCCAGCACAGCCACCCCAGCCTCGGCACATGGGTTCACCCACTTGGTGTTGGGAACCAGCCAGGGTTTGGACTGCAAAGCCAGCTCTCAGCCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAG | GCATGGTCTCGGGCCTTGGATGTCATCTCAGCTAACCTCGACTCCTGTCCTCATTTTGTGCAGACTCAGAGGTTCCGACATGGAACCAGGGTCACACAGCTAGGATGACGTGATGACCAGGCCTCAGGTTCTGACACCCCCCAGGCAGGGGAGGGACCCAGCTCCTCTACGCCCTACTGTCTCAAGAGCAGCCCCTCAGCCTCAACCTGCACCCCTGGGAGGCCCCTGCTCACTGTGCTCCCCCGAGGAACGGGTCCCTGTCCTGGGTGTCACCACAGGAACTGGTATGCCTGGTAAAGCAATTTATTCAAAGCCCACGGCCAAAAATCACCCTAGCCCTGCCTCTGCCTCAGTTATTTCCACACCTACCCCCCTGCTTTGTAGCTACCCCAAGGTGGCGGTAGCTCAAAGTCCCCTGAGGGCTGGGGAGGAAGCTACCCGGCCTGGCTCGCATTCCAGGCCCCACTGTAGGCCAAAGGCATATTTTAAGAGGACAATGGATTTGTTTTTATTAATTTTTTTGCTAAGAAAGTTTCTAGGTGGCAGGTGCTGTCCGGGGAGGGGGCGTGCGCAGCAGACACAGCAGCCAAACTGTCCTTTCTGCTTCCGTCTGTCTGTGCCAGCCCTGCCGCCTGCCAGCTCTTGCTCCCTCAGAGCCAGAAGGTTCTTGGCTCCAGGCTTCCTGGCCTGGATGCTGGCAGCCCCTGGGGAGAGGACCCAGGCCCCCTCTAGTAATGGCCACCACCCTCCCCCCAGGGCAGCTGGAGCCTCATCTTTGGCAGGGTCCCCTCTCCCTTTTCCAGGAGACTCTGTGCCTGTAGCCCTGGTCCCAGTGAACCTGGCCCCCACCCCAGTGGCTGGAACAGGAAGGCCAGGAGGCAGATGGGCCAGGGCCAGGAGACAGATGGCCCAATCCCCTGCCCACCACAGCAGCTTTTCTGAGAGGCGGGCAGGGGCAGGGTTTGCTCCCCCTGGTGCTGGGATGTGGTAGAGACATTGCAGCCAGGGCTGGAGGCAGGGAGGCGGGAGTAGAGATGTCGCTGCTGAGCCCCCATCACCATGGGAGGCAGGGGAGGTCTGCACTCTGGGCACTCCGCATGCTGGGGCTCCCCAAGTGTTAGGCCAGGCTGGAGGGCCGCGATGTGGCGGGGAAGCCCCAGACCCTACAGGAAAGCCCTTGCAAGTCCCCACCGGGGACCCAGCCCCACCGCAAACCTCTACGGCTACGGTGCCGGCCGCAAGGCATGCTGGGAGGCCTGCTTGGCCCGGTGCCGCCGCAGCCTCACAAAGACCTGGGCTTCTCGGTCACCCTTCCGGCCCTCCAGCAGCTGCAGGATTGGGTCCCCTGCGGAGAGAGGGGTTTGGGGGTCAGATGCCAGGGGAGAGGGCAGTGCCTGGTGGTGGCAGAGAAGAGTGTGTGGGGGGGTACACAACACTGCTCCATCTCCCCAACAACCTGGAAGGAAACAAGTGACAGACCCGCGCCAGCCCAGCCCAGGAGGTGGTCTGACAGACGCATCCGGTCGGGTCGCGTAACAGACAGAGTGCTGCTGGGACACTGTCCTGACTGCAGCGAGGGGCTGAGATGTGCCTGAGGTTTGACTATTACCTTTTTATACGAGAACCTAAAGCTAGCAAGTTAACCTTTTCATGCCTCGGTTTACTCATCTGTAAAAGAGTGCTAATATCTGCTTCGTTGGCTGGAATGCATAAAGTGCTTAGCACTTGCTCATAATAAGTGCACAAGCATCAGACCGTTGCTGGTATCAAAAATGCTCTGCAGGGAAGCGGCCCCGCCGAGTGAGATCCAGGCCCTTCTCCCCAGTTAAACTTCTTGGTGACTTCCCCATGCAAGGAGAGTCACGTTACACTTAGCTTAAAGTTCACTGGTCTCTTGATTAGACCGAGAGATGGGCCGTGGCTGTCCCACTGGCTCCCGTCTCCAGGGAAGCTGTTCTCCGACCCTGGCATCACCTCTCTGGGGCCCCTGCCTGAGCTTTACAGGCTCCCGTCCCCGCACCACCCTGCCCTGGGCTCAGGCCTACCGTTGGTGCGGGGTACGTGAGGGGCAGGCGGGTCTGAGGCACCTCACCAGGCTCCTCAGAGCCACTCAGCCCGGGCACCTCACGCAGCGGCAGGAAGGCCTCGCCTTCCAGGTCGTCGGCCCCCAGCGTGTCGTAGTCCAGCACGGTGAGCAGGAGGCATGCCCCAGCCTTGCGGCACGGCTCAGCAGGCACCAGGCTGCGGGGAGAGTCAGGGCTCTGCTGCCAGCCCCAGCACAGCCACCCCAGCCTCGGCACATGGGTTCACCCACTTGGTGTTGGGAACCAGCCAGGGTTTGGACTGCAAAGCCAGCTCTCAGCCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGN | pathogenic | 284,091 |
Considering the genetic mutation at chromosome 17, position 75830359, impacting UNC13D: is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | GCAGCGAGGGGCTGAGATGTGCCTGAGGTTTGACTATTACCTTTTTATACGAGAACCTAAAGCTAGCAAGTTAACCTTTTCATGCCTCGGTTTACTCATCTGTAAAAGAGTGCTAATATCTGCTTCGTTGGCTGGAATGCATAAAGTGCTTAGCACTTGCTCATAATAAGTGCACAAGCATCAGACCGTTGCTGGTATCAAAAATGCTCTGCAGGGAAGCGGCCCCGCCGAGTGAGATCCAGGCCCTTCTCCCCAGTTAAACTTCTTGGTGACTTCCCCATGCAAGGAGAGTCACGTTACACTTAGCTTAAAGTTCACTGGTCTCTTGATTAGACCGAGAGATGGGCCGTGGCTGTCCCACTGGCTCCCGTCTCCAGGGAAGCTGTTCTCCGACCCTGGCATCACCTCTCTGGGGCCCCTGCCTGAGCTTTACAGGCTCCCGTCCCCGCACCACCCTGCCCTGGGCTCAGGCCTACCGTTGGGTGCGGGGTACGTGAGGGGCAGGCGGGTCTGAGGCACCTCACCAGGCTCCTCAGAGCCACTCAGCCCGGGCACCTCACGCAGCGGCAGGAAGGCCTCGCCTTCCAGGTCGTCGGCCCCCAGCGTGTCGTAGTCCAGCACGGTGAGCAGGAGGCATGCCCCAGCCTTGCGGCACGGCTCAGCAGGCACCAGGCTGCGGGGAGAGTCAGGGCTCTGCTGCCAGCCCCAGCACAGCCACCCCAGCCTCGGCACATGGGTTCACCCACTTGGTGTTGGGAACCAGCCAGGGTTTGGACTGCAAAGCCAGCTCTCAGCCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGACAGGGCTGGCTTCACAGGCGTGCTTCCCCGACCCCACCCCCCATGCGGGCACACAGGGCCCCTGTGCTTAGGAGGACCCAGGCTTGGTTTCAGGTTCTGTCGTCACCGTTCTAAAATTTGTAATAACTTTTGAATAAGGGGCCCAGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTG | GCAGCGAGGGGCTGAGATGTGCCTGAGGTTTGACTATTACCTTTTTATACGAGAACCTAAAGCTAGCAAGTTAACCTTTTCATGCCTCGGTTTACTCATCTGTAAAAGAGTGCTAATATCTGCTTCGTTGGCTGGAATGCATAAAGTGCTTAGCACTTGCTCATAATAAGTGCACAAGCATCAGACCGTTGCTGGTATCAAAAATGCTCTGCAGGGAAGCGGCCCCGCCGAGTGAGATCCAGGCCCTTCTCCCCAGTTAAACTTCTTGGTGACTTCCCCATGCAAGGAGAGTCACGTTACACTTAGCTTAAAGTTCACTGGTCTCTTGATTAGACCGAGAGATGGGCCGTGGCTGTCCCACTGGCTCCCGTCTCCAGGGAAGCTGTTCTCCGACCCTGGCATCACCTCTCTGGGGCCCCTGCCTGAGCTTTACAGGCTCCCGTCCCCGCACCACCCTGCCCTGGGCTCAGGCCTACCGTTGGGTGCGGGGTACGTGAGGGGCAGGCGGGTCTGAGGCACCTCACCAGGCTCCTCAGAGCCACTCAGCCCGGGCACCTCACGCAGCGGCAGGAAGGCCTCGCCTTCCAGGTCGTCGGCCCCCAGCGTGTCGTAGTCCAGCACGGTGAGCAGGAGGCATGCCCCAGCCTTGCGGCACGGCTCAGCAGGCACCAGGCTGCGGGGAGAGTCAGGGCTCTGCTGCCAGCCCCAGCACAGCCACCCCAGCCTCGGCACATGGGTTCACCCACTTGGTGTTGGGAACCAGCCAGGGTTTGGACTGCAAAGCCAGCTCTCAGCCTGGCACCTCTCAGCCATGTGGTGCAATGCCTGCTCTGACCGTGGGCTGATGCTTTAAACCAGCGGTCCTGTGTTCCCTGTTCACCTGTGCTGAGGAACTAGGAGCAGGTTACTGAGAACCTCAGAGACAGGACCCTTCCCTGGAAGTCCCTAAGTTAAACACCTGGGAGTCCACCCCTTCCCCCAAGGGAAGCAAACTTTTTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCCCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGACAGGGCTGGCTTCACAGGCGTGCTTCCCCGACCCCACCCCCCATGCGGGCACACAGGGCCCCTGTGCTTAGGAGGACCCAGGCTTGGTTTCAGGTTCTGTCGTCACCGTTCTAAAATTTGTAATAACTTTTGAATAAGGGGCCCAGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGN | pathogenic | 284,096 |
Evaluate if the mutation on chromosome 17 at position 75831355 in UNC13D (unc-13 homolog D) is benign or pathogenic. Disease name(s) if pathogenic? | benign | TTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGACAGGGCTGGCTTCACAGGCGTGCTTCCCCGACCCCACCCCCCATGCGGGCACACAGGGCCCCTGTGCTTAGGAGGACCCAGGCTTGGTTTCAGGTTCTGTCGTCACCGTTCTAAAATTTGTAATAACTTTTGAATAAGGGGCCCAGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACC | TTTTTCTGAGACGGAGTCTTGCTCTGTCACCTAGGCTGGAGTGCAGTGGCGCCATCTTGGCTCACTACAACCTCCGCCTCCCGGGTTCAAGTGGTTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTGCAGGCGTGTCCCACCACACCCAGCTAATTTTTTGTTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTCCCAAAGTGCTGAGATTACAGGCATGAGCCACCACGCCTGGCCCTCTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTCACTCTGTCGCCCAGGCTGGAGTGCAGTGGCACCATCTCAGCAGCCTCTGCCTCCTGGGTTAAGCAATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGAGTACAGGTACCCACCATCATGCCCGGCTAATTTTGTATTTTTAGTAGAGACTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTCGGCCTCCCAAAGTGCTGTGATGACAGGTGTGAGCCACCACATCCAGCTGCAAACTCTTGTCCCAGATGCCCCATCCCTTGGGCCCAAATGTGGCCATCTCAGGGGAGCCCCTTGGCCCCAGCCAGGAGGAGCAGGCCTGAGGGAGCCCAGTGGGGAGAGATGAGGGGAGGGACTGGGAGAAGAACGGGACCCACTCACAATTCAAAGGTCTCATCAAACAATGGGTGAAGGTCCTTCTTGTGCTTCTGGGTCTCCCGGGCGGCCAGCTCAGGGAACTCATGCCTGGGCTCCAAGGTCAGCTGGACAAAGGGGTCGCTGGAGCCTGGTAAGTGGCCGGGGAGTGTGCGTCAGCTGAGGGTCTCCCAGGCACCCCACCCCAGCAGCTATGCTCTGCTCAGCGGCACTGACCCCTCCTGGTAACTGGAGGAAATGCACCCAGAGCTCCTGCAGGGTGAGCGAAGCCCCCAGGGTCGCTGAGACAGGAGGGCCAGGACGGGACCATGGAGAGTGGCCAAAGGCAGCCTCCACTCACCATTGGAGTCCAGGGGCAGCAGGCTGGAGGCGCTGAGCAGCTCCACACGCAGCTTCTGCTCAGAGGCGCGGTAGGAGGCCTTGACTGTCACAGCCCCCAGCTCCTCAGAGGTGGTTTCTGCCTGGGGTGGGGAGCAGGGGCAGGGTCAGCAGGGTCACAGCGGGAGCGGGGTGCTCCAGGGCCTGCAGAGGGCGCAGTGCGAGGGAGGGGCCTCACCTGCTGCTGGATTCGGCTGCAGAAGTACTTCCGGATGAGTTCCCGGCTGGAGGCCGCCTGCAGCTCCAGGTCCCTCTGCAGAGCCTGGGAACACATACAGCTGAGGATCCACCTGGACTGCACGCCCAACCACAGCCCAGGCCTGCCCTCCAGGAGCTCACTGTCAAGGGTAACATGTCCGTTTGAAATGGAAAGTATTGGGTCATGGGACAACGGGCTGGGGCCACCCTCAGGCCAGACAGACAGCAGGAGAGGCACAGACAGGGCTGGCTTCACAGGCGTGCTTCCCCGACCCCACCCCCCATGCGGGCACACAGGGCCCCTGTGCTTAGGAGGACCCAGGCTTGGTTTCAGGTTCTGTCGTCACCGTTCTAAAATTTGTAATAACTTTTGAATAAGGGGCCCAGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCAC | benign | 284,106 |
The genetic variant at chromosome 17, position 75833031, affecting gene UNC13D (unc-13 homolog D): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | AGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGG | AGTTTTTCATTTTGTACTGGGCCCCATAAATTATGTAGCCGACCCTGGACATAGGTGAGTGCCAAAAGGCAGGCTCCCCAGACTTCCTACGGGGAAGCTCACCCAAAGCCCCTACCTGGAAGGTGGCAGTGTGCAGGGCCTTGGGTGGCAGGCCACAGCCCTCAGCGTGGAAGCAGATCTCCAGGTTCTGGGGGAGATATCAGAGGTGACCCCAGGCACCCTCCCACCAGGGTTATCATTGCTGTGACCGGTTCTGTTACCTGCAGGGCAATCTTCAGCCTGTTGGAAGCCAGGGATGAGCTGCGCTGGGAGGCGGCCGCCTCCACCAGCACTGTGAGTGTGTGGGTCCAGAGCAGGGTCAGGAGGCTGGGGCGGGGCCGGAGGGATGCGGACACAGCACGGCAGGGCGGTGGCGGAGGAGGAAGCAAAGACGCTCTTGAGAAAGGGGCGGCCTCAGTGACCCAGCCCCACCCCAGCTCCTCCCACCCCCAACCTCCCCCTCCGCCTCCCACCCCAGGTGAGGCTGGGGAGAGGGTGGGTACAGGACCAGCAAGGGGCAGGTGGGATCAGTCCTATCCAACACACCTCTCAACCTCAGTGAGGAACCCTCCCCAGCACACTAACGGAATGCACAAACAAGGCTGGAGACAGGGAGGAGGCCAGGCCCCCAGTGACAACCATGATTTAAGACAGAACCAGGCCGGGCGTGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGTCGAGGTGGGTGGATCAGGAGGTCAAGAGATTGAGACCATCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAATTAGCCAGGCATTGTGGCACGTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATTGCACCACTGCACTCTGGCCTGGCAACAGAGCAAGACTCCATCTCAAAAAAACAATTAGCCAGGCATAATGGCATGCACCTGTAGTCCCAGTTACTCAGCAGGCTGAGGCAGGGAATCACTTGAACCCGGAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGN | pathogenic | 284,109 |
Chromosome 17, position 75834092, gene UNC13D (unc-13 homolog D): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Autoinflammatory_syndrome', 'Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_3'] | GAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGC | GAGGCGGAGGTTGCAGTGAGCTGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAATAAAAAATATATATACATGGTTTAAGAAATAAAAACGGCCGGGCTCCGAGGGGCCCTGGCTTATACCTCTGGGGGTGGAACAGAACTCTAGGAGGGCTGCGGCCTCTTCAGGGCCCAGATTCCACAGGGAGGTGGGGCGCTGTCATCATCATCGTCACTACCGCTAATAGTCACTGACCACTTCCTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCNNNN | pathogenic | 284,110 |
Chromosome 17, position 75834356, gene UNC13D (unc-13 homolog D): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | CTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCT | CTTTGTACTGACACCACGCTCAGCACCTCACATGACCCATTTAATCCTCAACAGAAGCCAGAACTACTCTCATCTGCACCGGGAACTTGCCCAAGGCTGCTAAGCAGTGATGAAGCCGGAGTCTGAACCCAGGTGGTCCAGAGCCCATGTGCTGGACTCCACCGCCTGTTGCCTGGCATGCTGGGTCCCTGCTATAAGACACCCTAGCTAGAAGTTCTCCCTGCACCGTGGGCAGGGACCACCTGTAACCTAATGGGGGCAGAGGAGCAGGCAGGGAGGCCCTGAAGACAGGCCTGGGACTAAAGGAGAAAGGACAGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGTCGGACAAGGTACCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGC | pathogenic | 284,114 |
Is the genetic change at chromosome 17, position 75834671, within gene UNC13D (unc-13 homolog D) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | AGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTT | AGGTAGATTTTGGCTCAGCCTAAGGAAGAACTCAAAGCACTCAGAGCTAGGCAGCAGGAAATGGGGAGGCCTGAGAAGTGGCAAGCTCCCCGTCCCTGCAGCGAGCCTTAGCAGAGCCTGTTGCACCCATAAGGGAGGTCACCAAAGGGATTCACCTCCACCCCTCAGAACGGATGCTGAGGCCCAGGAAAGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACACCCCTCAGAACGGATGCTGGGGCCCAGGAAGGAGGGGCCGTGGGAGGAGAGGGGGAGGTGGCGAGCGCGCCCAGGGCAGGGGCTGCTACAGACCTGCTGAAGTTCTCCTGCACCAAGTTGGTGTTCATGTAGCAAAGCTCCACCTCCAGGAACTTCATCAGGGGCAGAATGGCCTGGGGAGGGAGATGGGGAGCAGGTGTGGCTCCGGCCCATGTTGGCCCCACCCCCATCCCCTTCCCCTGACCTGGAGGGAGGAAACAGGGCTGGGAACCGTTCTGTGAGAGCAGTTTGTAGTGTCTGTAAGAGGCCGGCCTGCCCACCTCTCTGCCTTCCCCTCTCCGTTGCTCAGCCTGTCCCAGCCACACTGGCCTCCTCTACAGCCCTGGAACCTTCCAGGCATGGTCCTGCCTCAGGGTCTCTGCCCTTGCCGTTCCCTCTGCCTGGAATGCTCCTCCCCTAGAACTTCTCATGCCTCCTCCCCTTGCTTCCCGTAGGTCTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGCGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTT | pathogenic | 284,117 |
Determine if the mutation at chromosome 17, position 75835417 in gene UNC13D (unc-13 homolog D) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | CTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAA | CTTCGCTCAGTTGTCACGGCCTTCCCTGGCCACCATCTAAAAATACAACCCTCTGACACTTCTCAGCCGCTTCTCTGTTTTAAATTTTCTCTGTAGACTTATCATTATCTAGCACACTGCATGTGTGTGCACGCGCATACACGCCTGTGCATAGAGTTAACAGCTATAACTATCACTATAGTTATGGATACTCACTATGTAGCTCTTTTTTCACCTCCACTACTAGAACGTGGGCTCCAGGAAAGCAGGTATTTTGTCATATTGTTCACTGACCTATCCCCAGTGCTTAAATCAATGCATAGGACAAAGTGGGGACCTAATAAATAGTTGGTGAATGAATGAATATCCTTCTACCCGCCAGTCGAAGGTGTGCATCATGATATGCCCCCACTTACAGGTCAGCTGGCTTGTGTGAACAGGACGGCAAAGCTAGGAGGCAGCTGAGAAGGATGTGCACCCTGGCCTGTTTGGCTGCAAAGTCTAAGCCGTCCCCAACTGCAGCCCCCTCATTGACTGTCAGTGCTGGGACAGCCAGTGGAGTGACCCAACCCGTTCCTGTGAGCATCCCAGGAGGAAACTGAGGCCCAGGGAGAGAACATGCTTTGCCTGGTCTGGGGGACTTATCTTTGACACCAAGGCCTTCAATGACCCCAGATCTACAGAGCTGGCAGGGTGGTGAAGGCCAGCAGGCAGAAGGGCCACTTACATCCTCAGGCAGGACAGACTCCCTGACGCCCACCAGTTTCTGGATGTGCTTGGCGATGCCCACCTCCAACTGGAGACACAAAACGGAAGAAGGAGGGAGGTCAGGGCATGAGTCGGGGATGGAAGAGTTCCTTAGGGCCTGAGTTTAGACGCACGAAGGGGTCAGGGTTGGACCTTGGCCCAGGTGCTGCTGGAGCCAGGTAGGCTGAAGACGGGATGGGATGGGGTGACTGTGCGGTCGGACAAGGTACCTGCTCGGCCAGGGTGCGGACGCCAGTGCGGATCTCATGGCCCAGCCCGGCCAGCGCGCTCTGCAGCTGGGCATGCAGCGTGTTCTGCAGCTGCCCCTGCTCCAGCACGGCCCCTACCCGCTGCTCCAGGGCCTCCCATGCCAGCTGGGCGGGCAACTTGCCGATCACCAGCCGCAGCTGCTCCATGTCATTCACCACCACACACAGCTGGGACAGAGATGCAGAGCTTCCTGAACTGTGCCCAGGCTGGTCCCCACACCCAGCTAGACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAANNNNNNNNNNNN | pathogenic | 284,122 |
Regarding the variant found on chromosome 17 at position 75836639 in gene UNC13D (unc-13 homolog D): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Autoinflammatory_syndrome', 'Familial_hemophagocytic_lymphohistiocytosis_3'] | GACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAATTGGATTAGCTGGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTTGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACCAAAAATACAAAATTTAGCCAGGTGTGATGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGTGCCATGGCACTCCAGCCTGGGCGACAAGAGGGAAACTCCAGCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAATAGGATCTATGAACCTGAGCCTTCGTGCACATGTGGCAAGCATCAGTGAGAACTTCCTTTCAGATGGTTTGGGGGGATATCACACAAACGAGGTCCCGTGGGAGGGCAGAGGATGGGGGAGAGGAGCAGCCTGGGGACAGGCCGAAGTCCCTATTGGACACTGCAGCCACCTGCATTACTGTGCTTGGGCCCTGCAGGCAAACCAGGTCCCTCCCCATCTGGTGCCTGCTCCAGTCTCCAGCCGCACCACCATTCCACCCTTGTCTCCGAATCACCCACCTGCCTGAGGTCCTAGCAGTACACAAGCTGACCCCAGCCCAGAAATGCACTCCCCTGGGCTCCCTCCGCCTCCCACTCAGACTCCAAGTCACAGCCCAGGCCTGAGTCGGCATCCTGCTCCTGTTCCTCCCCTGGCCAGCACTTGGCTGTGTCCCATCTCTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGG | GACTCCCAGCCCCAGCTCTGGCCTTACCATGTTGGCTGCCTGGCCTTGGTCCTTCTGGCCTGAAGAGAGCTCGCGGGCCCGGGCCTTTATAAGGCTGCAGTACACCAGGGCCAGGCGACAGGTGTCCTAGGGTGGGGTTGGACAGAGGGAACTGATCCATGGGTGGGGCATCCAGGAAGGGCAGGTGGGAGGGCATGGGAATTTCAGCGACTTGGGGGATTTAGAATACAGGCCTTGGGAGGCTGCCTGGGTGAGAGCACGGGAGAAACGGTGGGTGGTAGTGTGGCTGTTCTAGAAAGAGGGGGAAGGACACGTGGAAGATGCCGCACCTCCACAAACTTGACGGTAATCATGAAGGCCTCCTCTGGGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGAGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAATTGGATTAGCTGGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTTGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACCAAAAATACAAAATTTAGCCAGGTGTGATGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGTGCCATGGCACTCCAGCCTGGGCGACAAGAGGGAAACTCCAGCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAATAGGATCTATGAACCTGAGCCTTCGTGCACATGTGGCAAGCATCAGTGAGAACTTCCTTTCAGATGGTTTGGGGGGATATCACACAAACGAGGTCCCGTGGGAGGGCAGAGGATGGGGGAGAGGAGCAGCCTGGGGACAGGCCGAAGTCCCTATTGGACACTGCAGCCACCTGCATTACTGTGCTTGGGCCCTGCAGGCAAACCAGGTCCCTCCCCATCTGGTGCCTGCTCCAGTCTCCAGCCGCACCACCATTCCACCCTTGTCTCCGAATCACCCACCTGCCTGAGGTCCTAGCAGTACACAAGCTGACCCCAGCCCAGAAATGCACTCCCCTGGGCTCCCTCCGCCTCCCACTCAGACTCCAAGTCACAGCCCAGGCCTGAGTCGGCATCCTGCTCCTGTTCCTCCCCTGGCCAGCACTTGGCTGTGTCCCATCTCTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCT | pathogenic | 284,136 |
Variant in UNC13D (unc-13 homolog D), chromosome 17, position 75837006—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | benign | GGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAATTGGATTAGCTGGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTTGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACCAAAAATACAAAATTTAGCCAGGTGTGATGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGTGCCATGGCACTCCAGCCTGGGCGACAAGAGGGAAACTCCAGCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAATAGGATCTATGAACCTGAGCCTTCGTGCACATGTGGCAAGCATCAGTGAGAACTTCCTTTCAGATGGTTTGGGGGGATATCACACAAACGAGGTCCCGTGGGAGGGCAGAGGATGGGGGAGAGGAGCAGCCTGGGGACAGGCCGAAGTCCCTATTGGACACTGCAGCCACCTGCATTACTGTGCTTGGGCCCTGCAGGCAAACCAGGTCCCTCCCCATCTGGTGCCTGCTCCAGTCTCCAGCCGCACCACCATTCCACCCTTGTCTCCGAATCACCCACCTGCCTGAGGTCCTAGCAGTACACAAGCTGACCCCAGCCCAGAAATGCACTCCCCTGGGCTCCCTCCGCCTCCCACTCAGACTCCAAGTCACAGCCCAGGCCTGAGTCGGCATCCTGCTCCTGTTCCTCCCCTGGCCAGCACTTGGCTGTGTCCCATCTCTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGAT | GGTCTGGCCAGTCCAGCTGCCGGGCAGTGTGGCTGATCTGGGCAAAGCAGGTGGATAGATCCACCGCTGATGTGCTGTGCTTGGTCAGTTCACCCAGGGGCACCAGCTGGGGGAAGAAAGGAGGACTCAGGATACTGCCAAATCCACCCCCTTCCCTCCTTCCTTCATTCATAGAGCAGCTACCATCACCAGGCACAGAGCTGGGCAGGGAGCTTCACAAGAGACAAGCACGGCTCCGCCCAGACCCCCAGGCTGCAGGATCTCAGGCAAAGTGAAGCCACAGCCCCAAGGATATCCAGAGGCAGCGTTTTGCACAAAACTGGACTCAAGTGCACCCAAAAGGGATGTTCAGAGCGGGTTACTGGCTTTTACTACGCTTTGGAGGTCCAGGCAGAACCCAAGCCTCACCCCCAAACCGGGGCCCCGCCCCCTGCCCTGGCCACGCCCCCACCTCATCCATCTGCACAGCGCGCTGCACCCGCGCCAGGGCCTCGTTGTACGTCTTCTGCAGCCAGGAGGGGATGGCCGGCTGGAACCAGCGGTGGAAATTATCCAGGGCCAGGACTCCATCCCTGGGGATTGCCGGGGCTCAGCGTCGGGAAGGCTGGGGCCACCATGGACCCTGGGGCCTCGTCCACCCTCCCCTCCCCTGTGCCCCTGCAGCCGCCCACAATTGGCCTGCTGCCCACCTCTCTGAGGAGCTCATGCGCAGCTGGCAGAGCTCCTTGAGGCTGATGTAGAGCTGGAACAGACTCTCGCCCATCTCTGGGGACACTACATCACCCACAACCGTCGTGTGGTCCTGCACCCGCTTGGCCACCTGCAAAGGAAAGGTGTGGAGGGCGGGGCCCACAGCTCTGTTGGAGGGCATGCCCTAGAGACGGGGGAGGGACTCACCAGCCACTGCAGCTCCCGGAAAGCCATGGAGAAGAGGTGGATCTTGAGGGTACTGGAGGAAAGGCAGCAGGTGTCACCCAGTGGCATACACCAGGGTCCCCATGGTTCCGGCTCTGAGGCAATGCCCCACTACCTCCCGACCTGGCTATCTGCTCACTTGTGGAAGATCTTGTCCCATGTGCGCTGGCACTGGTGCAGGTCGCCAATGACATCCTGTACCAGGCCCAGCAAGGCCTTGCCTGCCTCCGGGATGCCCTGCAGAGACAGAGGTGGGCTGGGCAGGGCTGCCAGAGGCAGGCACCACCCCCCGTGACCCCCTGCCCTCCCCCTTGCCCAGCCCCTCACCTGCACCATGGGTTGATGGTGCTGCTGCTTCAGGTGGAACCATTCAGTGGTGCCAGTCTGTCGACAAAGAGGCAGTGAGCAGGGAGGGACTGCCAGGCCCAGGCGCTGGTCTCCCCCATCCCCAGCGCGAGTACCATACCTGCAGGGCCTCAGTCACCAGCTGGGGCAATGGGGCGGTGTTGGGGCACAGTTCTCCAAAGGCCTTCATCTTGCACATCTGTACCAGGACCCTGCAAGATGGAAAGAGCTGTGTCGAAAGTGCCTGCTGCCCCACACTGCACTCACTCCTCCAACAATTCTCCCACTCCTGCAGGCACCCCAGCTGCTCCCTCATCCCTGACCCCACCGAGGAAGAGGAAGGCAGCCACTGACCTGAGAAGAGACTGCAGCCGGGCTGGGGAGTCCGAGACAGAGAGGGGGAAGACAGAGCGGAACCTCCGGATGAGGGAGAGGCCGTAGGTCAGCAGGGAGCTGAATGAGGCGGCCAGCTCCTCCTGCTGAAGAGCCAGGAGATGCTTTAGGGGCCTAGACAGCTGCTGCTGCTCCCCTGCCCCTTCCCTGAGCCCTGCCTGCTCAGTGCCCCTTGCCACTGCATGCCTACCTGTTCTGCCTTGAGCCGACCCTGGATCCACTGGTACTCGATGCTGGTGATGGGGTGCAGGAGGCAGCTGCTGGGGAACTCCAGGCTCTGGTAGAGGCGGCTGTAGGCCAGCCACTGCCTGCAGGGGACAGGAAGCCCTCAGCTGGACAGGGAGGAGGAAATTGCCTTCCCCTGTTCACCCGGCCTCAGGTGGGGGGAATCGCCTCCCTCCTCCAGGGCCCCTGGTGGAGAACCATCCACCAGTACAGGCTGAAAACTAGTGGCTCAACAGGACATGCAGGATTGTTTTTGTTTTGTGTTTTTTTTTTTGAGATGTAGTCTCACTCCGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTGCGCCTCCTGGGTTCAAGCGATTCTCCAGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCATGTACCACCATGCCCAGCTAAATTTTTTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACACCTGACCTCAAGTGATCCACCCGCCTCGGCCTCCCAAAGTTCTGGGATTACAGACATGAGTCACTGTGACCAGCCAGGATTTTTTTTCTTTGTTTCCATAGATGCTTTTCAAATTGCCCAGATTGAGATCTTTGTGATTTTAAAACTTCAGGATTTCTTGCTGTTTTTGAAAAATTGGATTAGCTGGGCACAGTGGCTCACACCTGTAATCCCAGGACTTTTGGAGGCCGAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCCATCTCTACCAAAAATACAAAATTTAGCCAGGTGTGATGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGACAAGAGAATCACTTGAACCTGGGAGGCAGAAGTTGCAGTGAGCTGAGATTGTGCCATGGCACTCCAGCCTGGGCGACAAGAGGGAAACTCCAGCTCAAAAAAAAAAAAGAAAAGAAAAGAAAAATAGGATCTATGAACCTGAGCCTTCGTGCACATGTGGCAAGCATCAGTGAGAACTTCCTTTCAGATGGTTTGGGGGGATATCACACAAACGAGGTCCCGTGGGAGGGCAGAGGATGGGGGAGAGGAGCAGCCTGGGGACAGGCCGAAGTCCCTATTGGACACTGCAGCCACCTGCATTACTGTGCTTGGGCCCTGCAGGCAAACCAGGTCCCTCCCCATCTGGTGCCTGCTCCAGTCTCCAGCCGCACCACCATTCCACCCTTGTCTCCGAATCACCCACCTGCCTGAGGTCCTAGCAGTACACAAGCTGACCCCAGCCCAGAAATGCACTCCCCTGGGCTCCCTCCGCCTCCCACTCAGACTCCAAGTCACAGCCCAGGCCTGAGTCGGCATCCTGCTCCTGTTCCTCCCCTGGCCAGCACTTGGCTGTGTCCCATCTCTTTTTTTTTTTTTTTGAGACAGAGCCTCGCTGTGTCGCCCAGGCTGGAGTGCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGG | benign | 284,139 |
Is the variant located on chromosome 17 at position 75840320, gene UNC13D (unc-13 homolog D), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | GCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAAAAAAGCAGCAAAATGGCTCGGTGCAGTGGCTCATGCCTATAATCTCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAGTTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCATGCAGTGAGTCAAGATTGCACCATTCCACTCCAGCCTGGGCAACAAGGGTGAAACTCCGTTTCAAAAAAAAAAAAAAAAAGCAGCAAAATGATGACCCTGCAGTTCCAGCACTTGTGTTTCATGAGAAGCTGGAGATCTGGATGGTATGTCAAATCTCCAGATAGCTTTTTCTAATATTTTTTGGAAATGAGGTCTCACTCTGTGATCCGGGCAGGAGTGTTGGTGTGATCATAGCTCACTGCAGCCTTGAAATCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCACCGCATCAGCCGAATCTCTAGACTTTTTAAAATTGGCAACTGATTCAAAACTTAAAACACACATTTTGGGCCAAAGGGAACTCTGCTGAGAATTACACTTTGGGCTACCGGCTTGGAGGAGGGCAGGGGGCGTGGGGGGCTGGTGGCTCAGGGGTTCTGCCCAGGGCTGTGTACTCACGCCATGGACTGGTGGAAGTCGGATAGGTCCTTCTGTGTGGCGTGCAGAAAGAGGACGGTGGCAGCCTGGGGACTCAGCGACCCGTCCCAGGAGGTGCTTCCCGCCTGAGGGGAGCAGGTGGAGGAGTGTCAGGACCTGAAGGGCAGCCCCGGCTGCGCCCAGCCCCAGGAGGGCAATACCTCGTGCTGGGTGACCTCGTGGGACACAAGCTGCTGCAGGAGGTGGAGGTGCACGGTGTAGCTCGGCTGCGAGCGGCTGGCCGAAGTGGCTCTCTGCAATGAGGCCTCTGTGAGCAGACAGGGCCTCACACTGGGTGCAGCCAGCCCCGCAACCCAGCAGACCGCCGCAAGAGCTGGGCATGGCCACTGGCCCAGTACCCGACCTACCCGCTTATGGATGAGTTGGAACTGGAGGTGGCACTGGCCTCGGTCTGGGTAGGTCTCAGTGCGGGGTTCCAGGGGGTACCACTGGTCCTCTCGGCAGCGCAGGTCCTGACAGGCGGGGATGCCCAGCCCGTGAGCGTCAGAACCTCATAGAGTCGGGGCAGCGGAGGCGACAGGAGGTGGACCCCAGGCTCAGCTTTGTGAGGACACAGAGCCTCTCCCCAGAACCCCTCCCAACCCCCTCCCTCTGCCTCGCTCCTGGGCCCCTTTCCTCATCCTCCTCACCTGCAGCCTCAGAACCACGTTCCCCAGAAAGTCGTCCTGGCCTTTGTCCTTCCGGGCCTCTTTAAAGATCCTGCGTCAGGCAGGGTCCCATAAGGGGGACGCAGCAAGGGTCGGAAGGGATTAGGCTGGAATCCACCCCCGGCCGCAGCCACCTGGACCCCAAAGGAGCCTGCACCCCAGCATCCAGTGTGCATGTTGGGGGATGGAGGGCAAAAGGAGCCCCAACCCCTTCCCTGTGAGCCCTGCAACACGAACCTGCGAAGCCCATGCAGATCCGTGAGCTCCCCAAGCTTCTGTCGGACAGACTCCACAGTGTCCAGGTCCCTGGCAGGACAGAGGTTTGAGAAGGAAGCAGAGAGAGTGCCTACGACCTCTTCCAGGAGGAGGTTCCGCCTCTCTCACCCCAGATCCCTTCCCTTCCCATCCCTAGGGGCAGGCCAGGTCACTCACCACATGTCCAGATGAAAGCTCGCATTGGTGATGTCCTCAAACTCCCTGTATGGAGAAAAGGGCGTGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGCAGTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTATCCCTGCCAAACTTCCCTCCTCCCAGCCGCATCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTAGTTCTGTCCCCCAGGCTGGAGGAGTGCAGTGGCAGGATCTAACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCACACTGGTCTTGAGCTTCTGACCTCGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGCACCTCCACGCCCGGCTAATTTTTGTACTTTTAGGAGAGGTGGGCCTTCATTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGTCCCTGCGCCTGGCCCCCACTAATTTTTTTTTTTTTTTTTGAGACAGAGTGTCGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCTCCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGTCTCCTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAACCACTGCACCCATCCCTGCCTCCTTTCAGGTACAGCTTCAGGCACCCCCAGACTCACCCACAAGGGCCTGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGT | GCAGTGGTGTGATCTCAGGTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCGTGCCTCACCCTCCCGAGTAGCTGGGATTACAGACATGCGCCCCCACACCTGACTAATTTTTCTATATTTTGTAGAGACAGGATTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGACTTCAAGTGATCTGCCTGTCTCGGCCTCCCAAAGTGCTGGGATTCCAGGCGCGAGCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAAAAAAGCAGCAAAATGGCTCGGTGCAGTGGCTCATGCCTATAATCTCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAGTTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCATGCAGTGAGTCAAGATTGCACCATTCCACTCCAGCCTGGGCAACAAGGGTGAAACTCCGTTTCAAAAAAAAAAAAAAAAAGCAGCAAAATGATGACCCTGCAGTTCCAGCACTTGTGTTTCATGAGAAGCTGGAGATCTGGATGGTATGTCAAATCTCCAGATAGCTTTTTCTAATATTTTTTGGAAATGAGGTCTCACTCTGTGATCCGGGCAGGAGTGTTGGTGTGATCATAGCTCACTGCAGCCTTGAAATCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCACCGCATCAGCCGAATCTCTAGACTTTTTAAAATTGGCAACTGATTCAAAACTTAAAACACACATTTTGGGCCAAAGGGAACTCTGCTGAGAATTACACTTTGGGCTACCGGCTTGGAGGAGGGCAGGGGGCGTGGGGGGCTGGTGGCTCAGGGGTTCTGCCCAGGGCTGTGTACTCACGCCATGGACTGGTGGAAGTCGGATAGGTCCTTCTGTGTGGCGTGCAGAAAGAGGACGGTGGCAGCCTGGGGACTCAGCGACCCGTCCCAGGAGGTGCTTCCCGCCTGAGGGGAGCAGGTGGAGGAGTGTCAGGACCTGAAGGGCAGCCCCGGCTGCGCCCAGCCCCAGGAGGGCAATACCTCGTGCTGGGTGACCTCGTGGGACACAAGCTGCTGCAGGAGGTGGAGGTGCACGGTGTAGCTCGGCTGCGAGCGGCTGGCCGAAGTGGCTCTCTGCAATGAGGCCTCTGTGAGCAGACAGGGCCTCACACTGGGTGCAGCCAGCCCCGCAACCCAGCAGACCGCCGCAAGAGCTGGGCATGGCCACTGGCCCAGTACCCGACCTACCCGCTTATGGATGAGTTGGAACTGGAGGTGGCACTGGCCTCGGTCTGGGTAGGTCTCAGTGCGGGGTTCCAGGGGGTACCACTGGTCCTCTCGGCACGCAGGTCCTGACAGGCGGGGATGCCCAGCCCGTGAGCGTCAGAACCTCATAGAGTCGGGGCAGCGGAGGCGACAGGAGGTGGACCCCAGGCTCAGCTTTGTGAGGACACAGAGCCTCTCCCCAGAACCCCTCCCAACCCCCTCCCTCTGCCTCGCTCCTGGGCCCCTTTCCTCATCCTCCTCACCTGCAGCCTCAGAACCACGTTCCCCAGAAAGTCGTCCTGGCCTTTGTCCTTCCGGGCCTCTTTAAAGATCCTGCGTCAGGCAGGGTCCCATAAGGGGGACGCAGCAAGGGTCGGAAGGGATTAGGCTGGAATCCACCCCCGGCCGCAGCCACCTGGACCCCAAAGGAGCCTGCACCCCAGCATCCAGTGTGCATGTTGGGGGATGGAGGGCAAAAGGAGCCCCAACCCCTTCCCTGTGAGCCCTGCAACACGAACCTGCGAAGCCCATGCAGATCCGTGAGCTCCCCAAGCTTCTGTCGGACAGACTCCACAGTGTCCAGGTCCCTGGCAGGACAGAGGTTTGAGAAGGAAGCAGAGAGAGTGCCTACGACCTCTTCCAGGAGGAGGTTCCGCCTCTCTCACCCCAGATCCCTTCCCTTCCCATCCCTAGGGGCAGGCCAGGTCACTCACCACATGTCCAGATGAAAGCTCGCATTGGTGATGTCCTCAAACTCCCTGTATGGAGAAAAGGGCGTGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGCAGTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTATCCCTGCCAAACTTCCCTCCTCCCAGCCGCATCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTAGTTCTGTCCCCCAGGCTGGAGGAGTGCAGTGGCAGGATCTAACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCACACTGGTCTTGAGCTTCTGACCTCGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGCACCTCCACGCCCGGCTAATTTTTGTACTTTTAGGAGAGGTGGGCCTTCATTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGTCCCTGCGCCTGGCCCCCACTAATTTTTTTTTTTTTTTTTGAGACAGAGTGTCGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCTCCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGTCTCCTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAACCACTGCACCCATCCCTGCCTCCTTTCAGGTACAGCTTCAGGCACCCCCAGACTCACCCACAAGGGCCTGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTN | pathogenic | 284,150 |
Evaluate this variant at chromosome 17, position 75840551, gene UNC13D (unc-13 homolog D): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis', 'Familial_hemophagocytic_lymphohistiocytosis_3'] | GCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAAAAAAGCAGCAAAATGGCTCGGTGCAGTGGCTCATGCCTATAATCTCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAGTTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCATGCAGTGAGTCAAGATTGCACCATTCCACTCCAGCCTGGGCAACAAGGGTGAAACTCCGTTTCAAAAAAAAAAAAAAAAAGCAGCAAAATGATGACCCTGCAGTTCCAGCACTTGTGTTTCATGAGAAGCTGGAGATCTGGATGGTATGTCAAATCTCCAGATAGCTTTTTCTAATATTTTTTGGAAATGAGGTCTCACTCTGTGATCCGGGCAGGAGTGTTGGTGTGATCATAGCTCACTGCAGCCTTGAAATCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCACCGCATCAGCCGAATCTCTAGACTTTTTAAAATTGGCAACTGATTCAAAACTTAAAACACACATTTTGGGCCAAAGGGAACTCTGCTGAGAATTACACTTTGGGCTACCGGCTTGGAGGAGGGCAGGGGGCGTGGGGGGCTGGTGGCTCAGGGGTTCTGCCCAGGGCTGTGTACTCACGCCATGGACTGGTGGAAGTCGGATAGGTCCTTCTGTGTGGCGTGCAGAAAGAGGACGGTGGCAGCCTGGGGACTCAGCGACCCGTCCCAGGAGGTGCTTCCCGCCTGAGGGGAGCAGGTGGAGGAGTGTCAGGACCTGAAGGGCAGCCCCGGCTGCGCCCAGCCCCAGGAGGGCAATACCTCGTGCTGGGTGACCTCGTGGGACACAAGCTGCTGCAGGAGGTGGAGGTGCACGGTGTAGCTCGGCTGCGAGCGGCTGGCCGAAGTGGCTCTCTGCAATGAGGCCTCTGTGAGCAGACAGGGCCTCACACTGGGTGCAGCCAGCCCCGCAACCCAGCAGACCGCCGCAAGAGCTGGGCATGGCCACTGGCCCAGTACCCGACCTACCCGCTTATGGATGAGTTGGAACTGGAGGTGGCACTGGCCTCGGTCTGGGTAGGTCTCAGTGCGGGGTTCCAGGGGGTACCACTGGTCCTCTCGGCAGCGCAGGTCCTGACAGGCGGGGATGCCCAGCCCGTGAGCGTCAGAACCTCATAGAGTCGGGGCAGCGGAGGCGACAGGAGGTGGACCCCAGGCTCAGCTTTGTGAGGACACAGAGCCTCTCCCCAGAACCCCTCCCAACCCCCTCCCTCTGCCTCGCTCCTGGGCCCCTTTCCTCATCCTCCTCACCTGCAGCCTCAGAACCACGTTCCCCAGAAAGTCGTCCTGGCCTTTGTCCTTCCGGGCCTCTTTAAAGATCCTGCGTCAGGCAGGGTCCCATAAGGGGGACGCAGCAAGGGTCGGAAGGGATTAGGCTGGAATCCACCCCCGGCCGCAGCCACCTGGACCCCAAAGGAGCCTGCACCCCAGCATCCAGTGTGCATGTTGGGGGATGGAGGGCAAAAGGAGCCCCAACCCCTTCCCTGTGAGCCCTGCAACACGAACCTGCGAAGCCCATGCAGATCCGTGAGCTCCCCAAGCTTCTGTCGGACAGACTCCACAGTGTCCAGGTCCCTGGCAGGACAGAGGTTTGAGAAGGAAGCAGAGAGAGTGCCTACGACCTCTTCCAGGAGGAGGTTCCGCCTCTCTCACCCCAGATCCCTTCCCTTCCCATCCCTAGGGGCAGGCCAGGTCACTCACCACATGTCCAGATGAAAGCTCGCATTGGTGATGTCCTCAAACTCCCTGTATGGAGAAAAGGGCGTGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGCAGTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTATCCCTGCCAAACTTCCCTCCTCCCAGCCGCATCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTAGTTCTGTCCCCCAGGCTGGAGGAGTGCAGTGGCAGGATCTAACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCACACTGGTCTTGAGCTTCTGACCTCGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGCACCTCCACGCCCGGCTAATTTTTGTACTTTTAGGAGAGGTGGGCCTTCATTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGTCCCTGCGCCTGGCCCCCACTAATTTTTTTTTTTTTTTTTGAGACAGAGTGTCGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCTCCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGTCTCCTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAACCACTGCACCCATCCCTGCCTCCTTTCAGGTACAGCTTCAGGCACCCCCAGACTCACCCACAAGGGCCTGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCTTCTGCCGATGCCGGGACCCGGGGCTGCCCCCTGGCACACCTACCCCCTGCTCAATGCCCAGCAGGCAGT | GCCACCGTGCCCGGCCGGCTATGTCCCATCTCTGCCCTACTCACATGCACTGGAATGGCTGTGACCCCCTGTGCCCTCCCCGGCATTCCTAGGACTTGACGTGAGTTGCCCTCAACATAGATTTGTCCTTATCAGCGCGTAGTTTTGCTGAGTTGAAGGCTATGGCATTGGGAAGCGGGGCTGGGGTTAGGGACCGGGTCCAAATTCAAATGCCCAGGACTCAGGAGACGAAAGCAACTGAAGTGGGCCCAATGGCAGCCATGATGGGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAAAAAAGCAGCAAAATGGCTCGGTGCAGTGGCTCATGCCTATAATCTCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAGTTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCATGCAGTGAGTCAAGATTGCACCATTCCACTCCAGCCTGGGCAACAAGGGTGAAACTCCGTTTCAAAAAAAAAAAAAAAAAGCAGCAAAATGATGACCCTGCAGTTCCAGCACTTGTGTTTCATGAGAAGCTGGAGATCTGGATGGTATGTCAAATCTCCAGATAGCTTTTTCTAATATTTTTTGGAAATGAGGTCTCACTCTGTGATCCGGGCAGGAGTGTTGGTGTGATCATAGCTCACTGCAGCCTTGAAATCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCACCGCATCAGCCGAATCTCTAGACTTTTTAAAATTGGCAACTGATTCAAAACTTAAAACACACATTTTGGGCCAAAGGGAACTCTGCTGAGAATTACACTTTGGGCTACCGGCTTGGAGGAGGGCAGGGGGCGTGGGGGGCTGGTGGCTCAGGGGTTCTGCCCAGGGCTGTGTACTCACGCCATGGACTGGTGGAAGTCGGATAGGTCCTTCTGTGTGGCGTGCAGAAAGAGGACGGTGGCAGCCTGGGGACTCAGCGACCCGTCCCAGGAGGTGCTTCCCGCCTGAGGGGAGCAGGTGGAGGAGTGTCAGGACCTGAAGGGCAGCCCCGGCTGCGCCCAGCCCCAGGAGGGCAATACCTCGTGCTGGGTGACCTCGTGGGACACAAGCTGCTGCAGGAGGTGGAGGTGCACGGTGTAGCTCGGCTGCGAGCGGCTGGCCGAAGTGGCTCTCTGCAATGAGGCCTCTGTGAGCAGACAGGGCCTCACACTGGGTGCAGCCAGCCCCGCAACCCAGCAGACCGCCGCAAGAGCTGGGCATGGCCACTGGCCCAGTACCCGACCTACCCGCTTATGGATGAGTTGGAACTGGAGGTGGCACTGGCCTCGGTCTGGGTAGGTCTCAGTGCGGGGTTCCAGGGGGTACCACTGGTCCTCTCGGCAGCGCAGGTCCTGACAGGCGGGGATGCCCAGCCCGTGAGCGTCAGAACCTCATAGAGTCGGGGCAGCGGAGGCGACAGGAGGTGGACCCCAGGCTCAGCTTTGTGAGGACACAGAGCCTCTCCCCAGAACCCCTCCCAACCCCCTCCCTCTGCCTCGCTCCTGGGCCCCTTTCCTCATCCTCCTCACCTGCAGCCTCAGAACCACGTTCCCCAGAAAGTCGTCCTGGCCTTTTCCTTCCGGGCCTCTTTAAAGATCCTGCGTCAGGCAGGGTCCCATAAGGGGGACGCAGCAAGGGTCGGAAGGGATTAGGCTGGAATCCACCCCCGGCCGCAGCCACCTGGACCCCAAAGGAGCCTGCACCCCAGCATCCAGTGTGCATGTTGGGGGATGGAGGGCAAAAGGAGCCCCAACCCCTTCCCTGTGAGCCCTGCAACACGAACCTGCGAAGCCCATGCAGATCCGTGAGCTCCCCAAGCTTCTGTCGGACAGACTCCACAGTGTCCAGGTCCCTGGCAGGACAGAGGTTTGAGAAGGAAGCAGAGAGAGTGCCTACGACCTCTTCCAGGAGGAGGTTCCGCCTCTCTCACCCCAGATCCCTTCCCTTCCCATCCCTAGGGGCAGGCCAGGTCACTCACCACATGTCCAGATGAAAGCTCGCATTGGTGATGTCCTCAAACTCCCTGTATGGAGAAAAGGGCGTGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGCAGTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTATCCCTGCCAAACTTCCCTCCTCCCAGCCGCATCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTAGTTCTGTCCCCCAGGCTGGAGGAGTGCAGTGGCAGGATCTAACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCACACTGGTCTTGAGCTTCTGACCTCGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGCACCTCCACGCCCGGCTAATTTTTGTACTTTTAGGAGAGGTGGGCCTTCATTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGTCCCTGCGCCTGGCCCCCACTAATTTTTTTTTTTTTTTTTGAGACAGAGTGTCGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCTCCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGTCTCCTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAACCACTGCACCCATCCCTGCCTCCTTTCAGGTACAGCTTCAGGCACCCCCAGACTCACCCACAAGGGCCTGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCTTCTGCCGATGCCGGGACCCGGGGCTGCCCCCTGGCACACCTACCCCCTGCTCAATGCCCAGCAGGCAGTN | pathogenic | 284,156 |
Evaluate if the mutation on chromosome 17 at position 75840817 in UNC13D (unc-13 homolog D) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | GGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAAAAAAGCAGCAAAATGGCTCGGTGCAGTGGCTCATGCCTATAATCTCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAGTTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCATGCAGTGAGTCAAGATTGCACCATTCCACTCCAGCCTGGGCAACAAGGGTGAAACTCCGTTTCAAAAAAAAAAAAAAAAAGCAGCAAAATGATGACCCTGCAGTTCCAGCACTTGTGTTTCATGAGAAGCTGGAGATCTGGATGGTATGTCAAATCTCCAGATAGCTTTTTCTAATATTTTTTGGAAATGAGGTCTCACTCTGTGATCCGGGCAGGAGTGTTGGTGTGATCATAGCTCACTGCAGCCTTGAAATCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCACCGCATCAGCCGAATCTCTAGACTTTTTAAAATTGGCAACTGATTCAAAACTTAAAACACACATTTTGGGCCAAAGGGAACTCTGCTGAGAATTACACTTTGGGCTACCGGCTTGGAGGAGGGCAGGGGGCGTGGGGGGCTGGTGGCTCAGGGGTTCTGCCCAGGGCTGTGTACTCACGCCATGGACTGGTGGAAGTCGGATAGGTCCTTCTGTGTGGCGTGCAGAAAGAGGACGGTGGCAGCCTGGGGACTCAGCGACCCGTCCCAGGAGGTGCTTCCCGCCTGAGGGGAGCAGGTGGAGGAGTGTCAGGACCTGAAGGGCAGCCCCGGCTGCGCCCAGCCCCAGGAGGGCAATACCTCGTGCTGGGTGACCTCGTGGGACACAAGCTGCTGCAGGAGGTGGAGGTGCACGGTGTAGCTCGGCTGCGAGCGGCTGGCCGAAGTGGCTCTCTGCAATGAGGCCTCTGTGAGCAGACAGGGCCTCACACTGGGTGCAGCCAGCCCCGCAACCCAGCAGACCGCCGCAAGAGCTGGGCATGGCCACTGGCCCAGTACCCGACCTACCCGCTTATGGATGAGTTGGAACTGGAGGTGGCACTGGCCTCGGTCTGGGTAGGTCTCAGTGCGGGGTTCCAGGGGGTACCACTGGTCCTCTCGGCAGCGCAGGTCCTGACAGGCGGGGATGCCCAGCCCGTGAGCGTCAGAACCTCATAGAGTCGGGGCAGCGGAGGCGACAGGAGGTGGACCCCAGGCTCAGCTTTGTGAGGACACAGAGCCTCTCCCCAGAACCCCTCCCAACCCCCTCCCTCTGCCTCGCTCCTGGGCCCCTTTCCTCATCCTCCTCACCTGCAGCCTCAGAACCACGTTCCCCAGAAAGTCGTCCTGGCCTTTGTCCTTCCGGGCCTCTTTAAAGATCCTGCGTCAGGCAGGGTCCCATAAGGGGGACGCAGCAAGGGTCGGAAGGGATTAGGCTGGAATCCACCCCCGGCCGCAGCCACCTGGACCCCAAAGGAGCCTGCACCCCAGCATCCAGTGTGCATGTTGGGGGATGGAGGGCAAAAGGAGCCCCAACCCCTTCCCTGTGAGCCCTGCAACACGAACCTGCGAAGCCCATGCAGATCCGTGAGCTCCCCAAGCTTCTGTCGGACAGACTCCACAGTGTCCAGGTCCCTGGCAGGACAGAGGTTTGAGAAGGAAGCAGAGAGAGTGCCTACGACCTCTTCCAGGAGGAGGTTCCGCCTCTCTCACCCCAGATCCCTTCCCTTCCCATCCCTAGGGGCAGGCCAGGTCACTCACCACATGTCCAGATGAAAGCTCGCATTGGTGATGTCCTCAAACTCCCTGTATGGAGAAAAGGGCGTGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGCAGTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTATCCCTGCCAAACTTCCCTCCTCCCAGCCGCATCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTAGTTCTGTCCCCCAGGCTGGAGGAGTGCAGTGGCAGGATCTAACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCACACTGGTCTTGAGCTTCTGACCTCGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGCACCTCCACGCCCGGCTAATTTTTGTACTTTTAGGAGAGGTGGGCCTTCATTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGTCCCTGCGCCTGGCCCCCACTAATTTTTTTTTTTTTTTTTGAGACAGAGTGTCGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCTCCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGTCTCCTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAACCACTGCACCCATCCCTGCCTCCTTTCAGGTACAGCTTCAGGCACCCCCAGACTCACCCACAAGGGCCTGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCTTCTGCCGATGCCGGGACCCGGGGCTGCCCCCTGGCACACCTACCCCCTGCTCAATGCCCAGCAGGCAGTAGGGGTCGCTGAACCCTGTGGAGGAGTGGGGAAGACGAGGCAGCCAGGGAGTCGGCTGGGTCCCTGGGAGAGGCCCTCATCACCCCCGCCCGGGGCTGAGCCTCCTCCGGGGGAGAGGGAAGGGGACCAGCAGCATGGGGGGCCAGCGCTACAGGGCTTCTTGGAAGTGGGTGCTCCCGCCAAGAGTCCTGGGCCAGGCTGTGATGGGAGAGGAAGGAGCCAGGAAGAAGCCCCTTGGGGACCCCACCCCATGCTCACCACTGACA | GGCAGAGGCACACACATCGCTCCGCTCTGTCCACTCAAAAAAGCAGCAAAGGCTGGGCGCGGTGGCACGCGCCTATAATCCCAGCACTTTGGGAGGCCAAGGCGGGCGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCATCTCTACTAAAAATACAAAAAATTAGCCGGGCGCGGTGGCTGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAGGCGGAGCCTGCAGTGAGCCAAGATCGTGCCACTGCACTCCGGCCTGGGCGAAAGAGCAAGACTCTGTCTCAAAAAAAAAAAGCAGCAAAATGGCTCGGTGCAGTGGCTCATGCCTATAATCTCAGCACTTTGAGAGGCCAAGGCAGGCAGATCACCTGAGGTCGGGAGTTGGAGACCAGCTTGACCAACATGGAGAAACCCCGTCTCTACTAAAAATACAAAGTTAGCTGGGCGTGGTGGCGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGAAGGCAGAGGTTGCATGCAGTGAGTCAAGATTGCACCATTCCACTCCAGCCTGGGCAACAAGGGTGAAACTCCGTTTCAAAAAAAAAAAAAAAAAGCAGCAAAATGATGACCCTGCAGTTCCAGCACTTGTGTTTCATGAGAAGCTGGAGATCTGGATGGTATGTCAAATCTCCAGATAGCTTTTTCTAATATTTTTTGGAAATGAGGTCTCACTCTGTGATCCGGGCAGGAGTGTTGGTGTGATCATAGCTCACTGCAGCCTTGAAATCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCTCCCAAAGTCCTGGGATTACAGGAGTGAGCCACCGCATCAGCCGAATCTCTAGACTTTTTAAAATTGGCAACTGATTCAAAACTTAAAACACACATTTTGGGCCAAAGGGAACTCTGCTGAGAATTACACTTTGGGCTACCGGCTTGGAGGAGGGCAGGGGGCGTGGGGGGCTGGTGGCTCAGGGGTTCTGCCCAGGGCTGTGTACTCACGCCATGGACTGGTGGAAGTCGGATAGGTCCTTCTGTGTGGCGTGCAGAAAGAGGACGGTGGCAGCCTGGGGACTCAGCGACCCGTCCCAGGAGGTGCTTCCCGCCTGAGGGGAGCAGGTGGAGGAGTGTCAGGACCTGAAGGGCAGCCCCGGCTGCGCCCAGCCCCAGGAGGGCAATACCTCGTGCTGGGTGACCTCGTGGGACACAAGCTGCTGCAGGAGGTGGAGGTGCACGGTGTAGCTCGGCTGCGAGCGGCTGGCCGAAGTGGCTCTCTGCAATGAGGCCTCTGTGAGCAGACAGGGCCTCACACTGGGTGCAGCCAGCCCCGCAACCCAGCAGACCGCCGCAAGAGCTGGGCATGGCCACTGGCCCAGTACCCGACCTACCCGCTTATGGATGAGTTGGAACTGGAGGTGGCACTGGCCTCGGTCTGGGTAGGTCTCAGTGCGGGGTTCCAGGGGGTACCACTGGTCCTCTCGGCAGCGCAGGTCCTGACAGGCGGGGATGCCCAGCCCGTGAGCGTCAGAACCTCATAGAGTCGGGGCAGCGGAGGCGACAGGAGGTGGACCCCAGGCTCAGCTTTGTGAGGACACAGAGCCTCTCCCCAGAACCCCTCCCAACCCCCTCCCTCTGCCTCGCTCCTGGGCCCCTTTCCTCATCCTCCTCACCTGCAGCCTCAGAACCACGTTCCCCAGAAAGTCGTCCTGGCCTTTGTCCTTCCGGGCCTCTTTAAAGATCCTGCGTCAGGCAGGGTCCCATAAGGGGGACGCAGCAAGGGTCGGAAGGGATTAGGCTGGAATCCACCCCCGGCCGCAGCCACCTGGACCCCAAAGGAGCCTGCACCCCAGCATCCAGTGTGCATGTTGGGGGATGGAGGGCAAAAGGAGCCCCAACCCCTTCCCTGTGAGCCCTGCAACACGAACCTGCGAAGCCCATGCAGATCCGTGAGCTCCCCAAGCTTCTGTCGGACAGACTCCACGTGTCCAGGTCCCTGGCAGGACAGAGGTTTGAGAAGGAAGCAGAGAGAGTGCCTACGACCTCTTCCAGGAGGAGGTTCCGCCTCTCTCACCCCAGATCCCTTCCCTTCCCATCCCTAGGGGCAGGCCAGGTCACTCACCACATGTCCAGATGAAAGCTCGCATTGGTGATGTCCTCAAACTCCCTGTATGGAGAAAAGGGCGTGGTTGAGGGCCCTGGAGGGTGGATGCCCCCAGACGAAGCAGTAAGTGACCACAGCCCAGAGCCATGGAGTTGTAGCCTATCCCTGCCAAACTTCCCTCCTCCCAGCCGCATCCCTTTTTTTTTTTTTTTTTTTTTTTTTGAGATGGAGTCTAGTTCTGTCCCCCAGGCTGGAGGAGTGCAGTGGCAGGATCTAACTCACTGCAACCTCTGCCTCCTGGGTTCAAGCAATTTTCCTGCCTCAGCCTTCCAAGTAGCTGGGATTACAGGTGCCCGCCACCACACCTGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTGGCCACACTGGTCTTGAGCTTCTGACCTCGTGATCCGCCCGCCTAGGCCTCCCAAAGTGCTGGGATTACAAGCGTGAGCCACCGCGCCCAGCCTTTTTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCGTGATCTCGGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCTTAAGTAGCTGGGATTACAGGCATGCACCTCCACGCCCGGCTAATTTTTGTACTTTTAGGAGAGGTGGGCCTTCATTGTGTTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAAAAGTGCTGGGATTACAGGCATGAGTCCCTGCGCCTGGCCCCCACTAATTTTTTTTTTTTTTTTTGAGACAGAGTGTCGCTCTGTCACCAGGCTGGAGTGCAGTGGTGCTATCTCGGCTCACTGCAACCTCCGCCTCCCAGGTTCAAGCGATTCCCCTGCCTCAGCCTTCCGAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTTGTATTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCAATCTCCTGACCTCATGATCTGCCCTCCTCAGCCTCCCAAAATGCTGGGATTATAGGCGTGAGCCACCACGCCCGGCCTTTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATGTTGGCCAGGCTGGTCTCAGTCTCCTGGCCTCCCAAAGTGCTGGGATTACAGGTGGGAACCACTGCACCCATCCCTGCCTCCTTTCAGGTACAGCTTCAGGCACCCCCAGACTCACCCACAAGGGCCTGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCTTCTGCCGATGCCGGGACCCGGGGCTGCCCCCTGGCACACCTACCCCCTGCTCAATGCCCAGCAGGCAGTAGGGGTCGCTGAACCCTGTGGAGGAGTGGGGAAGACGAGGCAGCCAGGGAGTCGGCTGGGTCCCTGGGAGAGGCCCTCATCACCCCCGCCCGGGGCTGAGCCTCCTCCGGGGGAGAGGGAAGGGGACCAGCAGCATGGGGGGCCAGCGCTACAGGGCTTCTTGGAAGTGGGTGCTCCCGCCAAGAGTCCTGGGCCAGGCTGTGATGGGAGAGGAAGGAGCCAGGAAGAAGCCCCTTGGGGACCCCACCCCATGCTCACCACTGACAN | pathogenic | 284,158 |
Does the variant on chromosome 17 at location 75844258 affecting gene UNC13D (unc-13 homolog D) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hemophagocytic_lymphohistiocytosis_3'] | TGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCTTCTGCCGATGCCGGGACCCGGGGCTGCCCCCTGGCACACCTACCCCCTGCTCAATGCCCAGCAGGCAGTAGGGGTCGCTGAACCCTGTGGAGGAGTGGGGAAGACGAGGCAGCCAGGGAGTCGGCTGGGTCCCTGGGAGAGGCCCTCATCACCCCCGCCCGGGGCTGAGCCTCCTCCGGGGGAGAGGGAAGGGGACCAGCAGCATGGGGGGCCAGCGCTACAGGGCTTCTTGGAAGTGGGTGCTCCCGCCAAGAGTCCTGGGCCAGGCTGTGATGGGAGAGGAAGGAGCCAGGAAGAAGCCCCTTGGGGACCCCACCCCATGCTCACCACTGACATCTTTGCCCAGAATGCCCTTGGCCTGTTTCACTGTTGCCTTCAGACAAAATATTGGCTTCTGGAGGGACAGGAGGGATGGCCTGAGTCCCTGAGGGGGCTGGGCTTCCCAGGCCCCTCCTTGCCCAGGGGGACCCTGGCCCCAGGTTACCTCAAGCTCCCTGACCCGCTGCAGTGTCTGCTGGTGCTCCTCGGGCTCCACGTGGAAGGCCTGGTGGGGAGGCAGGCGGGTGGGTGGCTGGGGGCACCAGACAGGGCAGCTGCAGGAAGGGGGGTGGGGTGGGAGCCGGGCTCACCTCCTGCAGGTATCGCAGCAGCTCAGAGGCCTCCGTCACATGGTTGGGCTCAGGATGACCCAGGCGGTGCAAGACAGTGTAGAGTGCGTCCTCGTAGAGCAGGGCCCGCTAAGACACACGGGGTCACCTTGGGGACCCCACCAGCCACCCCTGGCACCAACACCTCTCGCCATGGGCAGGACAAGGGCGGCTTGTGCAGCGGAGGGAGTTGAGACCCAGGAGTCCCCTCCCCACCGCAAGTTGCTTGCTGCCATCAGCGTCGGCCGGCAGGAGGACACACAGCCGCCCTCCCCACCTCTCTGCACCCCAGCACTCTGACTCTTACCTGCTCGGGGGAGAAGTGGTGGGATGGAGGCTGGATCTGCAGAGCAAGGTGGAAAGGCAGTGTCCCGGGAGGCCCAGAGCAGGCTCAGATGGACAGGAATGGCTCCTCTGAGGCCTGATCCAGGCCAAGGGTATGGGGGCCCCAGCACCCCGGCCTCCAGCCCCAGTGATGCCCCGCACCTGTTCCCCCAGCAGGCCTCCTGGAGGTCCGTCCCTGGGCCCGCCGTGGCTGAGGTCCATGGGTGCCCAGCAGCGCGAGCCCTCCGCACCCGCACCCCACCTCCCTCCCTTCCCCAGAGGAAACAGCTCTGCTTATCAGTGGCGGCTGCTCCTCACCCAGCAGCGGAAGTGAGGCTCGGCAGCGGAGGTGAGGGGGGTGCCACGTCGGCCTGGGGGTCTGCTGCTCCCCGAACAGCTCACCCCACAGCAGGGACACCCCCACCTAATGGAGTCGGCTCTTCTGAAGCTGGAGGAGTAGGGGATGGGGTCAGGCCAACCGGGAGGGAGGGGTTCTGAGAGCCTCAGACCACAGGGCCTGAGGCCCACAGTGGCCCAGAGTCCATCTGGCAGCCCCTGCTCTGCTGGCCCAGGGGGCTCTCCCCAGGGTGGAGTAGGCAGGGGAGGGTCGCTGGTCCCCAGTCCCAGCCTTCGAGAGGTGGGGCCAGACAGCAGGGCACCCGTACCCGAGACCACAGTGCTCCCCAAGGCCAGCTCTCTCCCCAGTGAGGTCACTCCTACCTCCGGGGCCATTTGGGGCGGGGGATCCTGTAGATCTCTGACTCTGCGGCGCCTTATCTTGATGGCCTGGCGCAAGAAGGGAGGGCGCTGCTGCGGATGGGAGAGGAGTGTCGCCATGGTGGCCTTCTCTGCCCTTCCCTGTCCGCTGGTGCTGGGTGAAGACAGCGAAGCCACAGGATTATGCAAAGAGCCTGGGGCTGCCACCCTCTGTCAGGGGAAGTTTTAGGGAGGGTGGCTGGGAGGGACGGAAGGGTGAGGGTTTCACCGCTTCGGAGAGGCAGTCTCCCAGGCCCCCTGCACCTTCCCCAGCTGGGATCCCTACAGGACCCTCCTCTGGCTGGAGCAGAAGGTGGACCCCGTGGGCAGGCCTGGCCCCGCCCCACCCTCCTACAGAGGCCCTGGGAAGGGGACAACGCTCTCAGCAGGGGGCGGGGGGGCCCAGAACAGGCGGGCAGCATCCTGCCCCATCCATGTGCTGTGCCCAGGCTGGGCTGAACCCTGAGAGAAGCTGACCTGGGCCCGGGGGGGTTCTCACCCCACTTCCTCGAGTGCGTCCAGACGTGGGGCGGGGCGGGGTGGGGTGGGGTGTGGTGGCGCCCAGGGTGGGGGCTCCCAAGAGGCGTCTCCCTGGAGGACAGCCAGTTGCTCAGCCTGCCTGGCCCCACAGGTGACATTCCTTGGAGATGACGGGGCCAAGCTGTGCTGGGCAGGGACAGCCCTGTGCCCCTGCCCCCACCTTGGCAGTCAGGACAGTGCTCCCTTCAGACACCCTTGAAGGGGGCTTAGCCAAGTCCCAGAGAGCTCTGGGCCAGGCTGGCCAGGAGGAGGAGGCAGAGGGGCTGCTGCCCGATCTCTCCTGAGGACAGACTTGGCTCCCGGGGGACAGGAAAATGCGCCTCAGCATGGGGCTTTCCTAGAGCTCTGTGGCCTGCCCACCCTGTGCCCAGTGCTGGGCTGGGGGACTTGCGGGCGTGTGGGCCTGGTCACGGCCTTTGGCCATTTCCCACCCTCCTGTCCCTTCAAGTTCACAGCAGGGCACGTGACGTGGGTGGTGGCAAGCCGGCTTGGCTACCTCAGTGTCCCTGTCACAGGTCCTGACGTGCTCCAGGGCTGACTCGGCCTCCTCCCTCCAGCAACCAGGACTTAGGCCAGGGCTGCCATTCCTCGAGGAGCCAGCAGGGGACAAGGTGGCAGCCCCAACTCCTCCCTTCAAGGCCAACTCTGGGCCACATCCACCTCTGTCCCAGCCAGGCCCTGGGGACTCAGTGGGGGAGGGACACAGCTGCTGAGCGACAACCGTTAAGAACCAGCTCCAGAGGCCAGAGCTGTCTTGGGGACCAGACAGGCTGGCTGGGCCGTGAGAATGGGGATCCTCCCATGGGAGGGAACCGTCCCAGAAGTCTCCAGGGCCCTCAGCGGCCAGACGGCTCTCCTTCCGGAAGAGACCCCCGGGTCACCACACGCAGAGCCAGAAAGGGTCCAGTTATTTCATTTTTACTATTTCACATTTTCAGCAAACAAATCGAGGTGCAAACAGGGTTTATTTCACATTAATATATTAACTGGATTTTTTGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGTG | TGACCCTCCTTGCCCCATCAGCACGTGTGGCATTGATCTTGTTCTGTCCCATCTGACCTACTGTCCACCTAACGTGCCTGGAGATGGGCTTCTCCTCTAGTCTTTGCCCAGGGCCAAACCCCCTCCCCTGAGCCAGGACGACCTACTCATCTCATTGTCTGGGGCAGACCCTGCTACCCAGGAAAGACCTGGATAGAGTGGGGGCTGGAGCACGGCCACGTACAGGATGAAGGTCTCGTCCCAGACGGGGTTGAGTGTCTGGGTGATGACCTGCGTGCGGTGGGTCTCCTCCTCGGGGATGGTGTGCCTCACCACAGCCTTCTGCCGATGCCGGGACCCGGGGCTGCCCCCTGGCACACCTACCCCCTGCTCAATGCCCAGCAGGCAGTAGGGGTCGCTGAACCCTGTGGAGGAGTGGGGAAGACGAGGCAGCCAGGGAGTCGGCTGGGTCCCTGGGAGAGGCCCTCATCACCCCCGCCCGGGGCTGAGCCTCCTCCGGGGGAGAGGGAAGGGGACCAGCAGCATGGGGGGCCAGCGCTACAGGGCTTCTTGGAAGTGGGTGCTCCCGCCAAGAGTCCTGGGCCAGGCTGTGATGGGAGAGGAAGGAGCCAGGAAGAAGCCCCTTGGGGACCCCACCCCATGCTCACCACTGACATCTTTGCCCAGAATGCCCTTGGCCTGTTTCACTGTTGCCTTCAGACAAAATATTGGCTTCTGGAGGGACAGGAGGGATGGCCTGAGTCCCTGAGGGGGCTGGGCTTCCCAGGCCCCTCCTTGCCCAGGGGGACCCTGGCCCCAGGTTACCTCAAGCTCCCTGACCCGCTGCAGTGTCTGCTGGTGCTCCTCGGGCTCCACGTGGAAGGCCTGGTGGGGAGGCAGGCGGGTGGGTGGCTGGGGGCACCAGACAGGGCAGCTGCAGGAAGGGGGGTGGGGTGGGAGCCGGGCTCACCTCCTGCAGGTATCGCAGCAGCTCAGAGGCCTCCGTCACATGGTTGGGCTCAGGATGACCCAGGCGGTGCAAGACAGTGTAGAGTGCGTCCTCGTAGAGCAGGGCCCGCTAAGACACACGGGGTCACCTTGGGGACCCCACCAGCCACCCCTGGCACCAACACCTCTCGCCATGGGCAGGACAAGGGCGGCTTGTGCAGCGGAGGGAGTTGAGACCCAGGAGTCCCCTCCCCACCGCAAGTTGCTTGCTGCCATCAGCGTCGGCCGGCAGGAGGACACACAGCCGCCCTCCCCACCTCTCTGCACCCCAGCACTCTGACTCTTACCTGCTCGGGGGAGAAGTGGTGGGATGGAGGCTGGATCTGCAGAGCAAGGTGGAAAGGCAGTGTCCCGGGAGGCCCAGAGCAGGCTCAGATGGACAGGAATGGCTCCTCTGAGGCCTGATCCAGGCCAAGGGTATGGGGGCCCCAGCACCCCGGCCTCCAGCCCCAGTGATGCCCCGCACCTGTTCCCCCAGCAGGCCTCCTGGAGGTCCGTCCCTGGGCCCGCCGTGGCTGAGGTCCATGGGTGCCCAGCAGCGCGAGCCCTCCGCACCCGCACCCCACCTCCCTCCCTTCCCCAGAGGAAACAGCTCTGCTTATCAGTGGCGGCTGCTCCTCACCCAGCAGCGGAAGTGAGGCTCGGCAGCGGAGGTGAGGGGGGTGCCACGTCGGCCTGGGGGTCTGCTGCTCCCCGAACAGCTCACCCCACAGCAGGGACACCCCCACCTAATGGAGTCGGCTCTTCTGAAGCTGGAGGAGTAGGGGATGGGGTCAGGCCAACCGGGAGGGAGGGGTTCTGAGAGCCTCAGACCACAGGGCCTGAGGCCCACAGTGGCCCAGAGTCCATCTGGCAGCCCCTGCTCTGCTGGCCCAGGGGGCTCTCCCCAGGGTGGAGTAGGCAGGGGAGGGTCGCTGGTCCCCAGTCCCAGCCTTCGAGAGGTGGGGCCAGACAGCAGGGCACCCGTACCCGAGACCACAGTGCTCCCCAAGGCCAGCTCTCTCCCCAGTGAGGTCACTCCTACCTCCGGGGCCATTTGGGGCGGGGGATCCTGTAGATCTCTTGACTCTGCGGCGCCTTATCTTGATGGCCTGGCGCAAGAAGGGAGGGCGCTGCTGCGGATGGGAGAGGAGTGTCGCCATGGTGGCCTTCTCTGCCCTTCCCTGTCCGCTGGTGCTGGGTGAAGACAGCGAAGCCACAGGATTATGCAAAGAGCCTGGGGCTGCCACCCTCTGTCAGGGGAAGTTTTAGGGAGGGTGGCTGGGAGGGACGGAAGGGTGAGGGTTTCACCGCTTCGGAGAGGCAGTCTCCCAGGCCCCCTGCACCTTCCCCAGCTGGGATCCCTACAGGACCCTCCTCTGGCTGGAGCAGAAGGTGGACCCCGTGGGCAGGCCTGGCCCCGCCCCACCCTCCTACAGAGGCCCTGGGAAGGGGACAACGCTCTCAGCAGGGGGCGGGGGGGCCCAGAACAGGCGGGCAGCATCCTGCCCCATCCATGTGCTGTGCCCAGGCTGGGCTGAACCCTGAGAGAAGCTGACCTGGGCCCGGGGGGGTTCTCACCCCACTTCCTCGAGTGCGTCCAGACGTGGGGCGGGGCGGGGTGGGGTGGGGTGTGGTGGCGCCCAGGGTGGGGGCTCCCAAGAGGCGTCTCCCTGGAGGACAGCCAGTTGCTCAGCCTGCCTGGCCCCACAGGTGACATTCCTTGGAGATGACGGGGCCAAGCTGTGCTGGGCAGGGACAGCCCTGTGCCCCTGCCCCCACCTTGGCAGTCAGGACAGTGCTCCCTTCAGACACCCTTGAAGGGGGCTTAGCCAAGTCCCAGAGAGCTCTGGGCCAGGCTGGCCAGGAGGAGGAGGCAGAGGGGCTGCTGCCCGATCTCTCCTGAGGACAGACTTGGCTCCCGGGGGACAGGAAAATGCGCCTCAGCATGGGGCTTTCCTAGAGCTCTGTGGCCTGCCCACCCTGTGCCCAGTGCTGGGCTGGGGGACTTGCGGGCGTGTGGGCCTGGTCACGGCCTTTGGCCATTTCCCACCCTCCTGTCCCTTCAAGTTCACAGCAGGGCACGTGACGTGGGTGGTGGCAAGCCGGCTTGGCTACCTCAGTGTCCCTGTCACAGGTCCTGACGTGCTCCAGGGCTGACTCGGCCTCCTCCCTCCAGCAACCAGGACTTAGGCCAGGGCTGCCATTCCTCGAGGAGCCAGCAGGGGACAAGGTGGCAGCCCCAACTCCTCCCTTCAAGGCCAACTCTGGGCCACATCCACCTCTGTCCCAGCCAGGCCCTGGGGACTCAGTGGGGGAGGGACACAGCTGCTGAGCGACAACCGTTAAGAACCAGCTCCAGAGGCCAGAGCTGTCTTGGGGACCAGACAGGCTGGCTGGGCCGTGAGAATGGGGATCCTCCCATGGGAGGGAACCGTCCCAGAAGTCTCCAGGGCCCTCAGCGGCCAGACGGCTCTCCTTCCGGAAGAGACCCCCGGGTCACCACACGCAGAGCCAGAAAGGGTCCAGTTATTTCATTTTTACTATTTCACATTTTCAGCAAACAAATCGAGGTGCAAACAGGGTTTATTTCACATTAATATATTAACTGGATTTTTTGTCAAATAAATAGGGAATTCTCTTTAAATAACCATCTCCTCACTTCATGGCCAGTCCAGGGACAAACAAGAGTGAATGTTAGCGCATCCAGGGGCACAAAGCTTAAGGGGAAGAAGCAGGCTGGGGGGCTGGTGGCAGGTCCCGGCCAGCACACAGGGTCAGGGGCCCTTGTTCCCGGCCCCACCCAGCAGCCACCAAGTGGACAGACATGCATTCTCTGGTTCCAGTCAGGAAGCTCCTTCTAGAAGGAAGTGAGAGGTGAGGGAAAGCAAATTCCAGAAACACCAGCAAAAGGCAGAAGGGCTTCCTCCCAGCCTCGGCGGCCCTGCCCCGACGCCACCCAAGCCCTGGAAGCTCATTTTACAGCTTCAAAAGTCACACAGGGTGGCAACAACATGACCCAGGACAGGGAAGGGAAGGAAGGGTGGCGGGGGCTGCAGCTGGACCCTGGCTGAGTGGAATGCGGGCGCGGTGGCCTTCTGAGACCAGCACAGACCAGCAGAGGGAATGT | pathogenic | 284,182 |
Evaluate if the mutation on chromosome 17 at position 75948393 in ACOX1 (acyl-CoA oxidase 1) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | GAAGGGTTCTACACCACTTCAAAAATACCTTTGCTTAAAAACACTTATATAGCCAGTGATTAGCAATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCTATTTGAATTCGAAAAAGATTCCACAAAATTTGAGTTGCACACAGGCGCTTTCTGAAGCAGATTAAACTTGTCCTTGTGACACTTCAGAGCTTGGACTGCAGTGACTTCAGGTGCTTGTAAGATTCGTGGACCTGTGGGGAAAGGAGAGAGAAGAACTACTAATAAAGAGTTTGCCATGTTAAATAGTATACTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGAGACTGAGTCCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAGCCTCTGCCTCCCAGACTCCAGCGATCTTCCCACCTTAGCCTCCCGAGTTGCTAGAACTACAGGTGTGTGCCATGACACCTGGCTGCTATTTGTATTTTTTTGTAGAGATGGGGGTTTACCATGTTGGCCAGGCTGGTCTAGAACTCCTCAATTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGCCCAGCCTGTGGTTGTTTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGAC | GAAGGGTTCTACACCACTTCAAAAATACCTTTGCTTAAAAACACTTATATAGCCAGTGATTAGCAATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCTATTTGAATTCGAAAAAGATTCCACAAAATTTGAGTTGCACACAGGCGCTTTCTGAAGCAGATTAAACTTGTCCTTGTGACACTTCAGAGCTTGGACTGCAGTGACTTCAGGTGCTTGTAAGATTCGTGGACCTGTGGGGAAAGGAGAGAGAAGAACTACTAATAAAGAGTTTGCCATGTTAAATAGTATACTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGAGACTGAGTCCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAGCCTCTGCCTCCCAGACTCCAGCGATCTTCCCACCTTAGCCTCCCGAGTTGCTAGAACTACAGGTGTGTGCCATGACACCTGGCTGCTATTTGTATTTTTTTGTAGAGATGGGGGTTTACCATGTTGGCCAGGCTGGTCTAGAACTCCTCAATTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGCCCAGCCTGTGGTTGTTTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACNNNN | pathogenic | 284,212 |
Gene ACOX1 (acyl-CoA oxidase 1) variant at chromosome position 75948458 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | ATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCTATTTGAATTCGAAAAAGATTCCACAAAATTTGAGTTGCACACAGGCGCTTTCTGAAGCAGATTAAACTTGTCCTTGTGACACTTCAGAGCTTGGACTGCAGTGACTTCAGGTGCTTGTAAGATTCGTGGACCTGTGGGGAAAGGAGAGAGAAGAACTACTAATAAAGAGTTTGCCATGTTAAATAGTATACTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGAGACTGAGTCCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAGCCTCTGCCTCCCAGACTCCAGCGATCTTCCCACCTTAGCCTCCCGAGTTGCTAGAACTACAGGTGTGTGCCATGACACCTGGCTGCTATTTGTATTTTTTTGTAGAGATGGGGGTTTACCATGTTGGCCAGGCTGGTCTAGAACTCCTCAATTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGCCCAGCCTGTGGTTGTTTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCT | ATTAAAATGTGAAAATAATCAACTACTCAGTAGTTAAATTCTGCTAATTATCAAAAGTCATAGTCTACTGGGATCAGCAGCATTACAAAAGGAAGTCATATCGCATTTCTTAAGCTTTTTCTGAATGGTTTAACAGGTCTCTTTCAGTGTTAATTGCACTTAAAACATCTGCTTTTTTTCATTTAATCTCTGAAATCTGTTCATTTTTTCCCTCCATTTATAAAAAGGGGTCAATTTATCATTTGCTCTATAGCTATTTGAATTCGAAAAAGATTCCACAAAATTTGAGTTGCACACAGGCGCTTTCTGAAGCAGATTAAACTTGTCCTTGTGACACTTCAGAGCTTGGACTGCAGTGACTTCAGGTGCTTGTAAGATTCGTGGACCTGTGGGGAAAGGAGAGAGAAGAACTACTAATAAAGAGTTTGCCATGTTAAATAGTATACTGTTTTTTGTTTTTGTTTTTGTTTTTTTTTTGAGACTGAGTCCTGCTCTGTTGCTCAGGCTGGAGTGCAGTGGCACAATCTTGGCTCACTACAGCCTCTGCCTCCCAGACTCCAGCGATCTTCCCACCTTAGCCTCCCGAGTTGCTAGAACTACAGGTGTGTGCCATGACACCTGGCTGCTATTTGTATTTTTTTGTAGAGATGGGGGTTTACCATGTTGGCCAGGCTGGTCTAGAACTCCTCAATTCAAGTGATCCACCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCGTGAGCCACTGTGCCCAGCCTGTGGTTGTTTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTN | pathogenic | 284,214 |
A mutation at chromosome position 75949227 on chromosome 17 in gene ACOX1 (acyl-CoA oxidase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | TTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTG | TTCTGAAGAGTCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGN | pathogenic | 284,218 |
Is the chromosome 17, position 75949237 variant in ACOX1 (acyl-CoA oxidase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | TCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTC | TCCTTATCTTTTAGAGCTATGCATTGAATTATTTATGGATAAAATTATCTGATGTCTTAGTTTTTTTTTTTTTTTTGAAACGGAGCCTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGCATGGTCTCGGCTCACCGCAACCTCCGCCTCCCAGGCTCAAGCAATTCTCCTGTCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCGCCACCACGCCTGGCTAATTTTGTATTTTTAGTAGAAACAAGGTTTCTCCATGTTGGTCAGGCTGGTCTCAAACTCCCGACCTCAGGTGATCCACCTGCCTCGGCCTCCCAGGTGTGCATCACTGAGCCTGGCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCNNNN | pathogenic | 284,219 |
Variant in ACOX1 (acyl-CoA oxidase 1), chromosome 17, position 75949576—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Acyl-CoA_oxidase_deficiency'] | GCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCAACCAGAAGAAGTTCTCAGAATACATACTTCTTTTCAGGAAATACCAACATTTAGTTATCTCTGGACCTCATCCAACAGGCAACCACGAAACAGAAGGGTGCCCATGAGTGAATGAGACCAAACTCATACCTCAGGCAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATA | GCCCTGATGTCTTAGATTTATTTCAAAATAGTCCCCAGGAGGAGGGGGATGAAGGTTCAGATGAAACACAACTAGCCACGAGTTGATAGTCATTGCTGCTAGACAAAGGGTGTACCAAAGAGCACTACGGAATTCTCTTTTTGTATATTTTATTCTATTTGTGTGTGTGTGTGTGTGTGTATACTTTTTTTTTTTTTTTGAGACAGAGTTTTGCTCTTGTCACCCAGGCTGGAGTGCAATGGCACGAACGTGGCTCACTGCAACCTCCGCCTCCTGGGTTCTCCTGGGTTCAAGCTGAGGCAGGAGAATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCAACCAGAAGAAGTTCTCAGAATACATACTTCTTTTCAGGAAATACCAACATTTAGTTATCTCTGGACCTCATCCAACAGGCAACCACGAAACAGAAGGGTGCCCATGAGTGAATGAGACCAAACTCATACCTCAGGCAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTAT | pathogenic | 284,222 |
Assess the variant on chromosome 17, position 75949883, impacting ACOX1 (acyl-CoA oxidase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | ATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCAACCAGAAGAAGTTCTCAGAATACATACTTCTTTTCAGGAAATACCAACATTTAGTTATCTCTGGACCTCATCCAACAGGCAACCACGAAACAGAAGGGTGCCCATGAGTGAATGAGACCAAACTCATACCTCAGGCAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCT | ATTCCCGAGTAGCTGGGACTACAGCCGTGCACCATTACTGCCTGGCTGCTTTTTTTGTATTTTTAGTAGAGATTGGGTTTCGCCATTTTAGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACTCGGCCTCCCACAGTGCTGGGATTACAGGTGTGAGCCAACGCACCCGGCCTGTATATATTTTTAAATGTTCAATTCGTTATCAAAAATTGAAATTGATTAAGACCCTGGTTACTGTGGGAACAACCCAGTTCCCTTCTGAACCTGTTGCTCAAATAAAGTGACTGTCAGAAGTGGCCATGGTACTTTCAGAGCTTTCACAGATAAATCCCCTTCGAGAGGCCTTTCCTGCTTCAATATTTAAGTGAAGACTTTTAAAAAGGTGCAGAGACACTGGATTTTTACCTCTGCTTTGTTCAGTGGGGAGTTCTTAGCCCACTCAAACAAGTTTTCATACACATTCCCATCATAGCGGCCAAGCACAGAGCCAAGTGTCACATCCTGAAAATCAAATGCATCAACCAAAGCAACAGCATCTGAGCGAATCAGAGTGAGTAACTCCTTTACACGCTGGTTTACTTGTGTAATCTGAGGCTCTGTCATGATGCTCCCCTAAAAGAGACCAAAATAAGTAAATAAAACATATATATGTATATAGATAGACATAATTATATGCATATACAGCTATAAAGCGGATGACAATTATTTTTTTCTTTTTTTTTTTTTGAGACTGAGTTTCACTCTTGTTGCCCAGGCTGGAGTACAATGGTGTGATCTTGGCTCACCGCAATCTCCGCCTCCCAGGTTCAAGCAATTCTCCTCCCTTGGCCTCCCAAATAGCTGGAATTACAGGCATGCGCCAGCACACCTGGCTAATTTTGTATTTTTAGTAGAGATGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCAACCAGAAGAAGTTCTCAGAATACATACTTCTTTTCAGGAAATACCAACATTTAGTTATCTCTGGACCTCATCCAACAGGCAACCACGAAACAGAAGGGTGCCCATGAGTGAATGAGACCAAACTCATACCTCAGGCAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTN | pathogenic | 284,227 |
Benign or pathogenic: chromosome 17, position 75950794, gene ACOX1 (acyl-CoA oxidase 1) variant? Disease(s) if pathogenic? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | GTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGACAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCAACCAGAAGAAGTTCTCAGAATACATACTTCTTTTCAGGAAATACCAACATTTAGTTATCTCTGGACCTCATCCAACAGGCAACCACGAAACAGAAGGGTGCCCATGAGTGAATGAGACCAAACTCATACCTCAGGCAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAA | GTTTCTCCATGTTGGTCAGGCTGGTCTCGAACTCCCGACCTCAGGTGATCTGCCCGCCTTGGCCAAAGTGTTGGGATTACAGGCATGAGCCACTGTGCCTGGCTATTTTTCTTTTTCTTTTTTTTTTTTTTTGAGACAGAGTATTGCTCTGTCACCCAGGCTGGAATGCAGTGGTTTCATCTTGGCTCACTGCAACCTCTGCCTCCAGGGTTCAAATGATTCTCGTGCCTCAGCCTCCCTAGTAGCTGGGATTACAGGCATGTGCCACTGCACCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACCAGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCACCGTACCCGCCTTGGGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGTGCCCAGCCAACAATTATTTTTCTTAAAACAACAACAAAAAAGACTTATACTTAGAAAATACTGACCTGAAGGAAATCCCCCGCGTTCTGACTGATTCCATACAGAGAATACAGCAGACATAAACTCCTTAAGACAGCTTGAATGGCTTTATCTTGAATTTTGAGGAGTTTTTCTGAAAAGAGCTTAACTACCACATAGTGGCAATGTGCCTAAGATTAAAAAGAAAACACCAGAGTTTGAGAACCTTGGAAAAAGATTCAATATACAGTGACTAGGGTTTCTGTACCAGAAAATGCGGGATGCTGAGGGCAGGGAAGGGGAAAAAGAGAGAACTACCACTGACCTCACTTGCTCGAACAAGGTCAACAGAAGTTAGGTTCCAAGCTACCTCCTTGCTTTTTCTGTGAATCACTTCTTTTTGAAGGTTTTTTGCAGCAATTTCTACTAATCTGTTAAGACATAGATTGGAGGTCTGAGGAAATGATCAACAGTACTCATGCCTTCTTGCCATCTGTCAGGGCCCCAGCCCCACTGCTGCGTATTCTAGCTCTTGAGGGAGAGCTCACCTGGCTGCACGGAGTTTATATGCTTCGGTTAGGCTTTCGGGGCTGTTGATATCCACCATGGTTGGCCAGACTGCTACCTGCTGTGGCTGGATGCGCTGACTGGGCAGGTCGTTCAAATAGGACACCATGCCACACACCAACTTTCCTGAGTGCACCTGATCATAACTTTTCATCAGGAACCTAAAAGTCACCAGTAAACATGCTTTTAGTAACTCTACTTTCTTTTGTTTCTTTTGAGATGGAGTTTCATTCTTGTTGCCTAGGCTGGATGGAGTGCAATGGCCAGATCTCAGCTCACTGCAACCTCCTCCTCTTGGGTTCAAATGAATGATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCTGCCACCATTCCTGGCTAATTTTTAATATTTTGTTTTTTTAGTAGAGACAGGGTTTTACCATGTTGGCCAGGCTGGTCTCTTAACTCCTGACCTCAAGTGATCTACCCGGCTTGGCGTCCCAAAGTGCTGGGATTACAGGAGTAAGCCACCACACCTGGCCTTTTTTTTTTTGATGGAGTTTTCGCTCTTGTTGCCCAGGATGGAGTGCAATAGCGCAATCTTGGCTCACTGCAACCTCCGCTTCCCAGGTTCAAGCGATTCTTCTGCCTCAGCCTCCCAAGTAGGCCGGGATTACAGGCAATGTGCCATCATGCCCGGCTAATTTTTTTGTATTTTTTTAGTAGAGACACGGTTTCACCATGTTGATCAAGCTGGTCTTGAACTCCTTACCTCATGATCTGCCCACCTCAGCTTCCCAAAGTGCTGGGATTACAGTCATGAGCCACTGTGCCCAGCCCAGTAACTCTATCCTTGATACAACTGCAAGCTATGTAACAGGTGCTTCATACTCTCTAGCCTCACCACGAAATAAAAACCGTGAGTCAGGATGGAAGGCAAAAGTATACCTTTCAGGAACAAATATATATATACGGTGAAGAAAAACCATGGGAACAAGAACCTAGGAAAAGGACTAGAACATTCTTATGAACAGATGGGAGGAATCGAGGATTTGACTCTCACCTAGCCGTCTGGAGCATCATGAGTGTTTTCTCCCTCAAAGGTACAGCTTGGGGTGAAATTGACATAAATATTTGGAAGACCACTGCAATGAGAATAGCCATGCCCACCACAAGCCATCCGACATGCTTCAATGCCAGTGTTTGCAGTCCAGGAGGTGAAAGCCTTCAGTCCAGCGGTGAGGGCATGAAGCTGAGAGGACAAGCACAGATCTGTCAGGACATCTGTGGTGCTGAGAGCCCGAGAACCAATGAGAAAACACACCCCTCCTCTAACATCTTGGCCACTGTCAAAACACAGCTGCCACACATGCAAACTGAAGAAGCACAGCTGTCCGACTGGCCAGAAGAATACAGAACACTACCCATGCCCATCTAAGCTGTTCTACTTGGCTAAACATTCACCACTTACATTTCCTTGATTGACAAATAATCAACATGGTACAGTATTTCTGATAACACTAAAAATACTGAACAACAAACCCCACAGATCTTCATATCTGATCTACTTTCAACCAGAAGAAGTTCTCAGAATACATACTTCTTTTCAGGAAATACCAACATTTAGTTATCTCTGGACCTCATCCAACAGGCAACCACGAAACAGAAGGGTGCCCATGAGTGAATGAGACCAAACTCATACCTCAGGCAGTTCACTCAGGTCCCCTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAANN | pathogenic | 284,229 |
Does the variant impacting ACOX1 (acyl-CoA oxidase 1) on chromosome 17, position 75953486, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | CTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGACAGGGTCTCACTATGTTGCTCAAGTTGGCCTCAAACTCCTAGGCTCAAGTAATCTTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCTACCACACCTGGCCAGTTTCTTTATTCCTTAGGAGTAAAAAGAGTATCAGGGAGTATCAGTGAAAGGCAGTTGTAGGAATAAACTGTGGCTATGAATGCAAAAGGGAAACAAATTTAATGTCACTTTCACCATGCACAATTTACAGTTGCTAGTAGTAATCAGAACTTTCAAACTGCCTTTAGTGTGTTGAACATTTCACTTATAAAGTTCAAGTAATATTATTACTATTTTTCTTAAAAAGTTAAAAATAATAAGGTGGGTATTCTCTTTTTTTCTTTTTTGGCAGTCACTGATTATAGCAAGGGTGGTTATTTCTGTCTTTCCTCTTAAGAAAAGGAAGCCTAGATATGAAATTACAGGCCCAGTTATCACCCTAGCCAATTTTGCAGTGCTAATGCATCTTCTGTATTGACATTTGGGAATTCTGGGATCTGAATGGGGTAAAAACTAGGCCTTTGGTACTGAGCCCATCTAGGACCCTATCCTTACCCTGGCTTGATTTCAGACTGGTGCCTCACAGCGCTGTATCGGATGGCAATGGTGCACGCCTTAGACAGAGCCCGAGCAGCTTCTCCCACAAGGAAGGACCTGACAAACACCATGGTCCCGTAAGTCAGCTTGTTACTCAGCGGTTTCACGTATGTGCCATCAGGCTTCACCTGGAAGAAGAACGTGGAACTGATACTTCCTTCTTTTAAGCCCAAGAGGCAGTTCAGTGGTTCTCAAAGTGTGGTCCCTGGAATAGCAGCATCAGCATCACCTGGCAACTTGCATGAAATACTACATCTTAGTCCCCACCCTGACCAACTGAATCAGAAACTCCAGGGTAGGGCCTAGCAACCTGGGCTTTAACTGGCCTTCCAGGTGATTCTAACGCATGCAAAAGTTTGAGAATCATTGGTTTAGCAAATCAAAATATGTCCTTCAACCCTGACAACTGTTTCTGATTTCACTGTCGCAGTAAAAGAAGCATCAGAGTGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACCAAAAAATGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGGTCCCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAGGGTGAAACCCCACCTCTACTAAAAATACAAAACAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGTGACAGAGACTCTCTCTCTCAAAAAAAAAAAAAAGGGGCATCAGAAGGAAAAATGCATTATTAGCTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTATTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGTGCCATCACACCCGGCTAATCTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGTCAGGCTGGTCTTGAATTCCTGACCTTATGATCCATCCTCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGCGCCCAGCCTTATTCCCTCCTTTTATGAGACGGAGTCTCACTCTGTTGCCAAGCTGGAGTGCAGTGTCATGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATGATCTTCCCGCCTCAGCCTCCCAAAAGTGCTGGAATTACAGGTGTGAGCCACTGCGCCCAGCCTCCTTTTTTTTTTTGAGACAAGGTCTCACTGTCATCTAGGCTGGAGTACGGTGGCATAATCACAGCTCACTGTAGCCTCGGCCTCCCAGGCTCAAGTGATCCTCCCACCCCAGTCTCCCAAGTAGCTGGGACTACACACGTGTGCCACCATACCCAGCTAGATTTTTTTACTTTTTGTAGAGATGGGTTCTCACTATGTTGCCCAGACTGATCTTGAGCTCCTGGGCTCAAGTCATCCACGCACTCAGCCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTTG | CTTGACCAATGCCTTCGTTAATCCGGTGATAGGTCTCCTTCATGTATGCGCCCACAAACTGGAAGGCATAGGCAGTGGCCAGGAGTGGAAAGAGTTTATACTGCTGGGTTTGAAAATCCAAAATCTGTGGTTCTGGTTCACTACGTGACATAGAAAAAGAAAAAAAGTAGTAAGTAAATGTTTATACAGAACTTTCTATATGCCAGGTTCTAATCTAAGCACTTGGTATTTTAACTTATTTAGTCCTCTTAAGGGCACTGTGAGGTAGTTACTATTACTATCTCCATTTTACAAATGGGAAACTGAGAGGTTAAGAATCTGCCTGAGGTCACACAGCTCGTATGTGGCAGGTCTTAGATTTAAATTGAGGCTTTTTTTTTTTTTTTTTTTTTTTTGTGATGGAGTCTCCCTCTGTCACCCAGGCTTTAGTGCAGTGGTGCGATCTTGGCTCACTGCAAGCTCCGCCTCCCAAGTTCAAGCGATTCTCTTGCCTCAGCCTCCCACAGTGGTGGGATTACAGGCATGAGCCACGGTGCCTAGGCTATTTGGCTCCCTAAGACCATGCTGTAATTACCTTGTACTGCGTAGGCTGACAGAATTTTCTGGCTGCAAAGTCCATATCTGTCCTAGTCTTTCCAGTATGACTAAGAAAACCGTAGCTCATAGCAACATACAAAACCAACGCTAGTCAACCTAATAAGAAGGCAATGCCAAAAAGCTCTACTCACCAGATGGCTGAATACATTGTATTTTGACCACAATCTTGGAGAAGACCCAATGGATGGTGTTAAATATTTTGAAGTGTAAGAATTAGCAAGGGTCTCATTGTATCAATTCCTTTATTCCTTTTTAAAAATGTAATTATTATTATTATTTTTTGAGATGAAGTCTCTAACACCCAGGATGGAGTGCAGTGTTGTGATTTCGGCTCACTACAACCTCCACTTCCTGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCCGAGTAGCTGGAATTACAGGCACCCGCCACCACACCCAGCTAATTTTTGTATTTTAGTAGACGTGGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGACTTCAAGTGATCCACCCGCTTTGGCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACTGCGCCTGGCCTTAAAATTTAATTAACTTTTAATTTTTTTGAAAATAGACCAGCCTGGCCAACATGGCGAAATTCCGTCTCTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCGTGCACCTGTAATCCCAGCTACTCAGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGGTGGCAGAGACTGCAGCAAGCTGAGATCGCGCCACTGCACTCCAGTCTGGGCAACAGAGTGAGAATCCATCTCAAAAAAAAAAAAAAAAGAAAAGAAAATAGAGACAGGGTCTCACTATGTTGCTCAAGTTGGCCTCAAACTCCTAGGCTCAAGTAATCTTCTTGCCTTAGCCTCCCAAAGTGCTGGGATTACAGGTGTCAGCTACCACACCTGGCCAGTTTCTTTATTCCTTAGGAGTAAAAAGAGTATCAGGGAGTATCAGTGAAAGGCAGTTGTAGGAATAAACTGTGGCTATGAATGCAAAAGGGAAACAAATTTAATGTCACTTTCACCATGCACAATTTACAGTTGCTAGTAGTAATCAGAACTTTCAAACTGCCTTTAGTGTGTTGAACATTTCACTTATAAAGTTCAAGTAATATTATTACTATTTTTCTTAAAAAGTTAAAAATAATAAGGTGGGTATTCTCTTTTTTTCTTTTTTGGCAGTCACTGATTATAGCAAGGGTGGTTATTTCTGTCTTTCCTCTTAAGAAAAGGAAGCCTAGATATGAAATTACAGGCCCAGTTATCACCCTAGCCAATTTTGCAGTGCTAATGCATCTTCTGTATTGACATTTGGGAATTCTGGGATCTGAATGGGGTAAAAACTAGGCCTTTGGTACTGAGCCCATCTAGGACCCTATCCTTACCCTGGCTTGATTTCAGACTGGTGCCTCACAGCGCTGTTATCGGATGGCAATGGTGCACGCCTTAGACAGAGCCCGAGCAGCTTCTCCCACAAGGAAGGACCTGACAAACACCATGGTCCCGTAAGTCAGCTTGTTACTCAGCGGTTTCACGTATGTGCCATCAGGCTTCACCTGGAAGAAGAACGTGGAACTGATACTTCCTTCTTTTAAGCCCAAGAGGCAGTTCAGTGGTTCTCAAAGTGTGGTCCCTGGAATAGCAGCATCAGCATCACCTGGCAACTTGCATGAAATACTACATCTTAGTCCCCACCCTGACCAACTGAATCAGAAACTCCAGGGTAGGGCCTAGCAACCTGGGCTTTAACTGGCCTTCCAGGTGATTCTAACGCATGCAAAAGTTTGAGAATCATTGGTTTAGCAAATCAAAATATGTCCTTCAACCCTGACAACTGTTTCTGATTTCACTGTCGCAGTAAAAGAAGCATCAGAGTGGGCGTGATGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGACAGATCAAGAGGTCAGGAATTCGAGACCAGCCTGACCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGCGTGTGGTGGCACGTGCCTGTAATCCCAGCTACTCAGGAGCTGAGACAGGAGAATCGCTTGAACCTGGGAGGCGGAGGTTTCAGTGAGCTGAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAACCAAAAAATGCTGGGTGCGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCAAGAGGGTCCCCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACAGGGTGAAACCCCACCTCTACTAAAAATACAAAACAATTAGCTGGGTGTGGTGGCGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCACGCCACTGCACTCCAGCATGGGTGACAGAGACTCTCTCTCTCAAAAAAAAAAAAAAGGGGCATCAGAAGGAAAAATGCATTATTAGCTCCTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTATTGCCTAGGCTGGAGTGCAGTGGTGTGATCTCGACTTACTGCAACCTCTGCCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGTGCCATCACACCCGGCTAATCTTTGTATTTTTAGTAGAGACAGGTTTTCACCATATTGGTCAGGCTGGTCTTGAATTCCTGACCTTATGATCCATCCTCCTTGGCCTCCCAAAGTGCTGGGACTACAGGCATGAGCCACCGCGCCCAGCCTTATTCCCTCCTTTTATGAGACGGAGTCTCACTCTGTTGCCAAGCTGGAGTGCAGTGTCATGATCTCTGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGCTATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGACTACAGGTGCGCACCACCACGCCCAGCTAATTTTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTCCATCTCTTGACCTCATGATCTTCCCGCCTCAGCCTCCCAAAAGTGCTGGAATTACAGGTGTGAGCCACTGCGCCCAGCCTCCTTTTTTTTTTTGAGACAAGGTCTCACTGTCATCTAGGCTGGAGTACGGTGGCATAATCACAGCTCACTGTAGCCTCGGCCTCCCAGGCTCAAGTGATCCTCCCACCCCAGTCTCCCAAGTAGCTGGGACTACACACGTGTGCCACCATACCCAGCTAGATTTTTTTACTTTTTGTAGAGATGGGTTCTCACTATGTTGCCCAGACTGATCTTGAGCTCCTGGGCTCAAGTCATCCACGCACTCAGCCTCCCAAAGTGCTGGGATAACAGGAATATGCCAGTGTGCCCTGCTGTTATTACCTTCTAAAAGAACAGACCATTCTAACCCTATTGTGAGTAACAGCCACTCAACTCCACTGTTT | pathogenic | 284,236 |
Variant in ACOX1 (acyl-CoA oxidase 1), chromosome 17, position 75978663—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Acyl-CoA_oxidase_deficiency', 'Mitchell_syndrome'] | CCAAAAATAAATAAACAAAATTTTTTCGTTTAAAACTGAGTGGAGCTCTGAGGAAAGTCCAAAGTGCCAGAGTAAACCATTTCATCTTCACAAAAATAACCCAAGTCAAGCTGAAAATCGATACCAAAGGCACTAGAGGCAGTGACCATTATTACCATAAAGGCAGAACGTGCAACATGTTCTATTTAGCTTGGTTCTAGTCTATACACCACTCATACGATTTAGTCTTTACCGATGAAAATACTGGAGTTCCTTTAAAATGGAGAAACCTAAAAGAGAAAATGCCCAGGAATAAATGAGAAAAAAATGCTATAGGCCAAAATAATCTTGTACTAGGATCATGTAATAGTGTTTGTTTAGGTTAAGGCAAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTTTGTTGCCCAGTCTGGAGTGCAGTGGCGTGATCTCGGCTCAGTGCAGCCTTTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACCCCAGAAGCGCACCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGAGAGTTTCACCATTTTGGCCAGGCTGGTCTCGAGCTCCTGGCCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCGGCCCGAAGTCCTTATTTTTATTTATTTTTACCGTTCCTTGTGGAGCAGGGTGGATCACGAGGTGAGGAGTTTGAGACCAGCCTGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAATCCGGGAGGTGGAGGCTGGAGTGAGCCGAGATCGTGCCACTGCACTGCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAACAAAAACAAAAACAAAAAACACAACAAAACACATGGTCTGAAAAAAGGATATACTCTCTTCCACACTAGAACCAAGGCAGGTTTTTATGACGTCTCTCTCATATGCACAAGACAACCATTCAAGCACTGTCATGGATTCAGAACTACTGGGTTCTTAGACTTTCTATTCATTCAGAGGCGTCACAGATCATTCTTCATCCAGGTCCACACTACCATATAATATAATCTGCTATTGCTCCAAAATATTTAAATGGTCGTGCAACTAAAAAAAAAAATGCTCCCAGATTCAGAATTTTAGCAGTCCTCCTTACAAAGAGCAAAATGATTCTGCATTTAAATCAGTCAAATTTGAGTTGCTTGGGCAGAACAATGCTTTTACAACATCCTTGAAACTGTACTCTTGAGAACAAAAACTCCTGCATTTCCATTTATTATCAGCATTCTACAAACACGTCATCCCACGAAAAGGCTTGGATACAAAAGTGATCACATTATTTTTCACACATATAACTTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTCGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTAGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACTTGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACACATATAACTTTATAAAGTTGCATGAAAATATGCCAGTTTGCATCTTCAAACACCAAGCACGGTGATGAAAGGCCACCATAGACCGCAGCTGTAAAGTTTAGGCTTAACAACACTTGCTCTGTTCTAAGGCATACCTACTTTTTAAACCACATAATTTCATCAGGGTCAGCGATGCCAAACTCCCTCATCTTCTTCACCATGATGGCACTTTTCCTGACAGCCACCTCATAACGCTGGCTGCGAGTGAGGAAGTTCAAGTCCTCATGCTGGAAGTCTGGGTCGTTCAGGATCATGTTCTCTGAAAGGGGGTTAAAGGGCATTAAAAGGCAGACAGACACTCGGGCCTCCGTTCCACCCTCCCTGAATCACAATAGGCTTCAGAGTCGCGGACACACCTGGGGAATGGCGATATCCCCCCACCAGGGACACAGGCTGTTCCTCGAAGTGGGGGTCCCGGCTCCCCTAACGCTGGGCCAGAGGGCCTAGGCCCCACAGCGCCCCTGACTCCGCATCGAGGGAGTCTCCAGCTTTTCTCGGGAAAGGAGGGAGGTCTCGCCCGCCGCCCTCACCGATCTCTCGGCGGCGCCGGGTTTTCTCGGGGCTGCCGTCCAGGATGTGTGTAAGCAGCTCCGGGTTGAAGCTGGCGGAATCCCGCTCCCTGCGCAGGTCCGGGTTCATGGCGACGACCAGCTGGCAGCGAAGTAAGCACCGACCGAGGTGGCAGTGACAATCTAAATCCGCAGCTCCAGCGCCGGCCGGACCCTAGGAGGCAGCCTCAGGACGGCGCAAGTCCCCGCCTCCGCTCGCCCGGCCCGCCCCGGCCCGCCCCTTCTTTCTCCGTGGCCCTTTGGCGCGTGAGTGACAGCGGCCCAGACAGAGGGGGCGATGTCCGCGTCGTGGCTGGGGCCGGTCGCGGGGCAGACTAATCCCCTGCTCCTGGCCAGGGGAGGCTCCCGAGCGGATCCTCGGGAAAGGGGCTCCGAAGGTCAAGAAACTGCCCTGCTGGGCGTCCGGGGAGTGGGAAAATAAAGCACTTTTTGTATCCCGCCCCTCCCCCGTCACGTGACCACGCGAGGCGGAAAGAAGAAATCCGAGGACCGGCGACGCCTAGAACAGGTTGGCTGGGGCCTTGGGAAGGGGGCGGGACAACGAGGCTGAGGAGGGATTGCGCCTGCACTTGCCCCCCTCTTACCCCGCGGCCTCTGTCACGCTTCCGGGTCCGTGCCCCTAGGCCTCTCCGAAATGAGAGTGGTCGGGAGACTCTGGAGTCTGGGGCGGGAGATGGGGCTTTGCGGAATTGCTAGGGAGGGTCACTTGGGCTTTTGCCAAATCCACCCGGATTGGAGAAGAATGGGACGGGAACCAGTCTCTTTGGGGAGAGGCTCCAGTTACCTTTTGTTAAGATAATGGCGTCTTTACTGGCAGAGGCGTGGGTTCCGGGGCCCTGGGTGTGGGATTGTGAGCGCTGTTCAAGGGGTGGACGGGGACTTAGAATGAGACCAAGCGGGCGGTGCTGCTCTAAGCCTTCTGTCTGGGAAACCAGACATTTTCCCCCGCAACCTGGCAGTTACTAGAGGTCTTGGAATCCAGACTTCTTTGCTTTCGCCATCACCGTCATCAAAGTGGGAAATGCACACTTACTGTTAAAACCTAGTGTAGGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGACGAGGCGGGCGTATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACAAAAAATACCAAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCTGAAGGCTGAGATGGGATGGTGGCTTGAGCCCCGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTGACATTGCACTCCATCCTGGGCAACATAGTGAGACCCTGTCTCTACAGAAAAAAAACAAAAAACAAAAACAGTTCTGCCCAGTGGGATTGTAGACAAGGGAGATTCAGGGATTTGTTGAATCATCTCTAGTCATTTTTTTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGCAGTGTGGTGGTATGATCTCAGCTCATTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGATTATAGGGGCTCGCCACCACACCCAGCTAATTGTATTTTTAGTAGAGACAGGATTTTGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTGTTGATCCACCTGCCTCGGCCTCCCAAAGCGCCGGGATTACAGGCGTGAGCCG | CCAAAAATAAATAAACAAAATTTTTTCGTTTAAAACTGAGTGGAGCTCTGAGGAAAGTCCAAAGTGCCAGAGTAAACCATTTCATCTTCACAAAAATAACCCAAGTCAAGCTGAAAATCGATACCAAAGGCACTAGAGGCAGTGACCATTATTACCATAAAGGCAGAACGTGCAACATGTTCTATTTAGCTTGGTTCTAGTCTATACACCACTCATACGATTTAGTCTTTACCGATGAAAATACTGGAGTTCCTTTAAAATGGAGAAACCTAAAAGAGAAAATGCCCAGGAATAAATGAGAAAAAAATGCTATAGGCCAAAATAATCTTGTACTAGGATCATGTAATAGTGTTTGTTTAGGTTAAGGCAAAAAAGTCTTTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCTCTTTGTTGCCCAGTCTGGAGTGCAGTGGCGTGATCTCGGCTCAGTGCAGCCTTTGCCTCCCAGGTTCAAGGGATTCTCCTGCCTCAGCCTCCTGAATAGCTGGGACCCCAGAAGCGCACCACCAGGCCCGGCTAATTTTTGTATTTTTAGTAGAGAGAGTTTCACCATTTTGGCCAGGCTGGTCTCGAGCTCCTGGCCTCAAGTGATCCACCTGCCTTGGCTTCCCAAAGTGCTGAGATTACAGGCATGAGCCACTGTGCCCGGCCCGAAGTCCTTATTTTTATTTATTTTTACCGTTCCTTGTGGAGCAGGGTGGATCACGAGGTGAGGAGTTTGAGACCAGCCTGGCAACATGGCGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCGGGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAAGCAGGAGAATCGCTTGAATCCGGGAGGTGGAGGCTGGAGTGAGCCGAGATCGTGCCACTGCACTGCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAACAAAAACAAAAACAAAAAACACAACAAAACACATGGTCTGAAAAAAGGATATACTCTCTTCCACACTAGAACCAAGGCAGGTTTTTATGACGTCTCTCTCATATGCACAAGACAACCATTCAAGCACTGTCATGGATTCAGAACTACTGGGTTCTTAGACTTTCTATTCATTCAGAGGCGTCACAGATCATTCTTCATCCAGGTCCACACTACCATATAATATAATCTGCTATTGCTCCAAAATATTTAAATGGTCGTGCAACTAAAAAAAAAAATGCTCCCAGATTCAGAATTTTAGCAGTCCTCCTTACAAAGAGCAAAATGATTCTGCATTTAAATCAGTCAAATTTGAGTTGCTTGGGCAGAACAATGCTTTTACAACATCCTTGAAACTGTACTCTTGAGAACAAAAACTCCTGCATTTCCATTTATTATCAGCATTCTACAAACACGTCATCCCACGAAAAGGCTTGGATACAAAAGTGATCACATTATTTTTCACACATATAACTTTATTTATTTATTTATTTATTTATTTTTTGAGATGGAGTCTCGCACTCTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCCGCCTCCCTAGTTCACGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGAACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTGTATTTTCAGTAGAGATGGGGTTTCACCGTGTTAGCCAGAATGGTCTCGATCTCCTGACTTGGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCGGCCACACATATAACTTTATAAAGTTGCATGAAAATATGCCAGTTTGCATCTTCAAACACCAAGCACGGTGATGAAAGGCCACCATAGACCGCAGCTGTAAAGTTTAGGCTTAACAACACTTGCTCTGTTCTAAGGCATACCTACTTTTTAAACCACATAATTTCATCAGGGTCAGCGATGCCAAACTCCCTCATCTTCTTCACCATGATGGCACTTTTCCTGACAGCCACCTCATAACGCTGGCTGCGAGTGAGGAAGTTCAAGTCCTCATGCTGAAGTCTGGGTCGTTCAGGATCATGTTCTCTGAAAGGGGGTTAAAGGGCATTAAAAGGCAGACAGACACTCGGGCCTCCGTTCCACCCTCCCTGAATCACAATAGGCTTCAGAGTCGCGGACACACCTGGGGAATGGCGATATCCCCCCACCAGGGACACAGGCTGTTCCTCGAAGTGGGGGTCCCGGCTCCCCTAACGCTGGGCCAGAGGGCCTAGGCCCCACAGCGCCCCTGACTCCGCATCGAGGGAGTCTCCAGCTTTTCTCGGGAAAGGAGGGAGGTCTCGCCCGCCGCCCTCACCGATCTCTCGGCGGCGCCGGGTTTTCTCGGGGCTGCCGTCCAGGATGTGTGTAAGCAGCTCCGGGTTGAAGCTGGCGGAATCCCGCTCCCTGCGCAGGTCCGGGTTCATGGCGACGACCAGCTGGCAGCGAAGTAAGCACCGACCGAGGTGGCAGTGACAATCTAAATCCGCAGCTCCAGCGCCGGCCGGACCCTAGGAGGCAGCCTCAGGACGGCGCAAGTCCCCGCCTCCGCTCGCCCGGCCCGCCCCGGCCCGCCCCTTCTTTCTCCGTGGCCCTTTGGCGCGTGAGTGACAGCGGCCCAGACAGAGGGGGCGATGTCCGCGTCGTGGCTGGGGCCGGTCGCGGGGCAGACTAATCCCCTGCTCCTGGCCAGGGGAGGCTCCCGAGCGGATCCTCGGGAAAGGGGCTCCGAAGGTCAAGAAACTGCCCTGCTGGGCGTCCGGGGAGTGGGAAAATAAAGCACTTTTTGTATCCCGCCCCTCCCCCGTCACGTGACCACGCGAGGCGGAAAGAAGAAATCCGAGGACCGGCGACGCCTAGAACAGGTTGGCTGGGGCCTTGGGAAGGGGGCGGGACAACGAGGCTGAGGAGGGATTGCGCCTGCACTTGCCCCCCTCTTACCCCGCGGCCTCTGTCACGCTTCCGGGTCCGTGCCCCTAGGCCTCTCCGAAATGAGAGTGGTCGGGAGACTCTGGAGTCTGGGGCGGGAGATGGGGCTTTGCGGAATTGCTAGGGAGGGTCACTTGGGCTTTTGCCAAATCCACCCGGATTGGAGAAGAATGGGACGGGAACCAGTCTCTTTGGGGAGAGGCTCCAGTTACCTTTTGTTAAGATAATGGCGTCTTTACTGGCAGAGGCGTGGGTTCCGGGGCCCTGGGTGTGGGATTGTGAGCGCTGTTCAAGGGGTGGACGGGGACTTAGAATGAGACCAAGCGGGCGGTGCTGCTCTAAGCCTTCTGTCTGGGAAACCAGACATTTTCCCCCGCAACCTGGCAGTTACTAGAGGTCTTGGAATCCAGACTTCTTTGCTTTCGCCATCACCGTCATCAAAGTGGGAAATGCACACTTACTGTTAAAACCTAGTGTAGGGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGACGAGGCGGGCGTATCACTTGAGCCCAGGAGTTCAAGACCAGCCTGGGCAACATGGCAAAACCCCATCCCTACAAAAAATACCAAAAAATTAGCTGGGTGTAGTGGCATGCGCCTGTAGTCCCAGCTACTCTGAAGGCTGAGATGGGATGGTGGCTTGAGCCCCGGAGGTGGAGGTTGCGGTGAGCCAAGATTGTGACATTGCACTCCATCCTGGGCAACATAGTGAGACCCTGTCTCTACAGAAAAAAAACAAAAAACAAAAACAGTTCTGCCCAGTGGGATTGTAGACAAGGGAGATTCAGGGATTTGTTGAATCATCTCTAGTCATTTTTTTTTTTTTTCTTGAGACGGAGTCTCGCTCTGTCGCCCAGGCTGCAGTGTGGTGGTATGATCTCAGCTCATTGCAACCTCCACCCCCTGGGTTCAAGCGATTCTCCTATCTCAGCCTCCCGAGTAGCTGGGATTATAGGGGCTCGCCACCACACCCAGCTAATTGTATTTTTAGTAGAGACAGGATTTTGCCATGTTGGCCAGGCTGGTCTCGAATTCCTGACCTGTTGATCCACCTGCCTCGGCCTCCCAAAGCGCCGGGATTACAGGCGTGAGCCGN | pathogenic | 284,253 |
Determine if the mutation at chromosome 17, position 76540199 in gene PRCD is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Retinal_dystrophy'] | TTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCAACCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGGCCTGGACCTCCTGGCAGGAGAGAAAAGGCCAAATCTGAGGACCATCTGGCCAGGCC | TTCGCGGCGAGGCCGACCGCCAGCCCGCCCGTGGGGGCGAACAGGAGCCCCTCCGGCGGCCGCCGTGGACCTAGCTGGGCTCCCCTCGCCCGGGCCTCTCCCCGCGCCCCCGAGCCAGCCGCTGGGGGCCGCGGCGCCACTCCCACGGCTCTGGACGCCCAGGCTCTGGGGGGTTAGCACGGGGGTCGTCCCCCTGCCCGCCCACCGCCCCGGCTGTCGGAACTTGAGCGCACCTCCGACCTCGGGCGCCAGAGGCCTGCGCCCCCTCTCCTTCCGCCCAGCACCTCCATGCCCTCGGTGCACGAACGCGGCGGCGGCGGCCAGAAGTCCCCCGTGGCTTATGAATGACACGGACAGGCAAGAACCAGCCGCTGCCCTGAATTCTAGCCCAGCTGGTGGCGGAGGAAGTCCAGAGAGGCACCGGATAGGGCAGACAGGACCTGGCAGACAAAAAGTCTTGAGGAAGGCGCAGGCTGCTGGGGACATCTCAGCCGCCACCAAGGGCCCGATTCCGGGCCTGGGGGAGGCAAATCCTTCCTCCTGGTGGGCCCTATCCAGGGCAGTGTGAGATTGGGCCAGAGGTGGGGGGAGAATCCCATGGTGCCTGCCCTGCAGCGGCTGCTCAGTCCTGGGGACAGCCTGAGGCCAGACAGGGCCTGGCAGTGTTGGGAAGAGATGTCACTCAGGCTCCCGGCGACCCCTGTCCTCGCTCAAGACTTGATGTCCCATTGCCCAAGCATTGCTAAGGGTTGGCTCTGCGCTTTCACTATGGTTCATGTATTTATTCTTAAAATCCGACTTTAAGGTCCGGGGGAGGCGAGGAGAACTCACCCTGGCCAGCCTCAGCTGCAGCCTGGGCCCCTCCTGGGAGCTCAGGGTTCAGGTGCCTGGGGGACCCTGAGGCAGTGCCTCTGACACTGTCTCCCCCTTGTTGAGGGAATGAAAATCTAATGCCTCCTGGGGGTCTTGGAGGGGCTGGAGGGGAGCGGGTGGGTTCAGGTTCTCACACCACTCCCAGACCCATGTCTCAGCGTGGCCATGGCTGGCTCCATGCTCCACACACACACTGAACAGCTTCTCAAAGTTGGTGTGACCAAGTGGCTGCCCAACAGGTCCCCTTGGGATGTGGAAAGAAAATAGGAGAAATCGTGTAACTATTTCTTTTCATCTCATCCTTTGCAAATGTAATATAGTCGTATGGTGTAGGAATGAATCTGTACAGTAGTCTAGCATATAATTTGTAAGTGGCTGCACCTGTCTATTTTGTGAGTGCACACTTGAATTCTGCCTTTTACTGAAGAGGGCGTGTAATCAGAAAAGTTTGGAGAGGATTGTCCAGAGGGTAAAACTGCCAGCCCTTCACTGTTGAGTCTCCCGTCTCTCTGGCTTCATTATCCAATATTCCTCCCCTTTCTTCCTCCTCTCCTGATGCTTCCACGGTGACATCATTGCTTCACCTCCATTCACCTTGCAGTTACTGGCAGATGCTCCATGCTTTCATGTCAGTAGCTTCGGCAGCGTCTTCTGTCTGAGGGCTCATCCTGCCTTGTGCACTGCAAATTCAGAGGCCCTTGCTCCTCTTTAAACGTTGCCCTGATGCCTGCAACTCTGAAAGTGCCCTGTAGGCGCCTTGAATAACTCCTGGGTCACTCTACTGCAGTCATTGTACTTGACAGCACATTTGTTTAGAGTGGCAGCTCCTTGCAAGCAAGGCCCAGTCTCATCAGATCGAGACTCCGAATACGTGCTCAATGCCACAGTGCATGCCTTGACCCTACCGCTGGAGGGGAGAACCTGGGCCCAGTGAGCTTAATCAGTCCTCACAAGGTCGGGGCCGCTGACCCACTAATCAGCTTGAGCCTCCTAATCCATCCCCAGCAGGAACCGCAGGACAGACGGCAGTGGCTCCTGAGAGCTGGCTGGGGCCATTTTGGCCCCTCGCCTGTGGCCTTCTGCAGACTTGGCCTGGGAGGGGATGGGGCAGCTGCGCCATGTGCACCACCCTTTTCCTGCTCAGCACCCTGGCCATGCTCTGGCGCCGCCGATTTGCCGAGTCCAACCGTGAGAAACTGACCGGGCTATGGCTGGCGGTTGGTCGGGGGGGGGGGGCATGGGGCTGGGCTGCCACCAAGCTGAAGGTGGGCAGGGGCTGCGTGAACCTTCAGCGGGGCTGGGAGGGCATTTTGAGGAACCCTTGAGAGAGCACAGTCTCAGAGCAGGGGGACTTAGAGCTTCAAAGGCTCTAGTTGCAGCCTCTACTCCCATAGCCCAATGCGGCCTGGACCTGTGGAGGGACAGTGAGGGGCTGGGCACAGCCATAGCTCTTCCTCCCTACTCTTGCCTCCCACAGAGAGCCCAGCGACGTGGATGGGGCAGCTAGGGGCAGCAGCTTGGATGCGGACCCTCAGTCCTCAGGCAGGTAAGGCAGGAGTCTGGGCTGGGGGAGGGAGGGTGCTGCCAAGGAAGCTGTGGCTGTGCATGCCTGGGGGTGCACGTGTGTGCCTGTGCGCGCCTGTGCGTGCACCGTATCCTGGCCCTTGCCCTAAGCACCCTGCTCCCTGTCCGCCTGCTGGGCAGGCTGGATGTCTGTTTTCTGCGGTTGGGAATGGGAACCCTCAGCTCGCTCCTCTGGACCAAAGCCGCTGTGCCTCTCATCTCCAGCACGGGGCGGTCCCCCGGGGCACCTTCTGTCAGAAGGCACAGGGGAGTGGAAGGAGGGATGAGGCAGGAGTAGCTCTGTGTGGCTTTGCTCGCCTTTCCTTGCCCTTCCCCCTCCTCCTCCTCTGCCCCCGCCCTGCCTCAGCTAGGCTGCCTGAGCCTCCAGCAGGATTCGCTGTCCAGTCCCCAATAGAAGGCGCGGGAGGAGCATGACATCATCAGCATAGAGTGCCATTGGCTGGGCAGACCCTGCGGGCAGGACGCTGTCTCCAGTGGCCAGAAAGTTAACTCTTCCCTAGGCTGGAGCCATGTGGTCTTTAGGGGGTGAAGTTGGGGGAACTTCCAGACTTTTCCTTCCCTGGGTGACCAGTGTCGTTCGATGATAGGGGCGCCTATCCCAACCAAACACTGGAAAAAATCAGCAAATCTTTATGAAGTTCCCATGCATGAGGGGTTCCTTCTGTGCCTATGGACTCACCTAGCGTGGGAGACCTGTCTGAAGAGTGACTTTTTTGCTCCCAGTGAAACAAAGAGTAAAAAAGATCCGATGACATCTTTGGGTCAGGGCGCACTGGCAGGAGGGTGTCTCCACACAGGGAAGACTCAGGTGGCGGGTACTGTGACCATCCATGTCTCTTTCTGAGTGGGGACCTGCCAGCAATGTGTCCCTTAGATATGCGGAAACTGGCAACCGAGAGAACTTCCGTCTTTCTGTCTCCTGTCGTCTGAGTCCTGGGATTCTGAGTCCTGAGATTCTGATGATCAGAAGGCCCAATGGGAAGCCCTGGGCCTGTACAGGAAGCGGAGGCATTTCTGCGACACCTCAACTCGATAGGCCAGCTGGCATCATCATAATAGTGCCTAATTGATATCACTAGTTAAATCAGCTACAATGACCACCCCTGGGCCTCCCCCGATAGGAGGCCCTCAAATGCTGGGTGGTCCACGCTATTGAGCCCGGGTCTAGAGTTGGGCAGGGAGAATTTAAATTCTGGCTTCCCTCTTACTAATGGAAAGACTATGGGGGAAATTTATGCAATCAGTTTATTTATATGTAAACTAGGATTAATAACAGTGGTTGTGAGGTTTTGGTGAGGGTGCAGAGTGATTGCTCCATAAATGCTAGCAGCTGTCTTGTTTCATGCTCGGGACCTGTGCTTTAGTTTTCTCCAGAGGTTTCCTACCTATTAAGTCACTCGGGAGGCTCAGTAACCCCAGAGGATTGGCAGGACATGTGTTTTTAATCTTTGGTTAATGGTTGTGGAAACTGAGGGACAGGGAGATTTAGGTGGCTTGCTCCAGATCATCTATCTCATTTGTGGCTAATGCGGGATGCTCAGGCCCGATTCCAGGCAGGGTCTCTTCTACATGAAATGGGCCTGGACCTCCTGGCAGGAGAGAAAAGGCCAAATCTGAGGACCATCTGGCCAGGCCNNNN | pathogenic | 284,338 |
A genetic variant at chromosome 17, position 76733059, affecting gene METTL23 (methyltransferase 23, arginine)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability', 'Intellectual_disability,_autosomal_recessive_44'] | AGGAGAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAAAGTCCTTACAGGTTCAGTGTCTGGTGAGGGCCAGAATTCTGGTTCAGACAGTGTCCTCTGTGTTCTTAAGTGTCTTGTACCTTAAGAAGCAAAGCAACTCTCCAGGGCATTTTATAAGGGCACTAATCATGAGAACTCTGCCTTTATGTAATTGCCTCCCAAGGCCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGA | AGGAGAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAAAGTCCTTACAGGTTCAGTGTCTGGTGAGGGCCAGAATTCTGGTTCAGACAGTGTCCTCTGTGTTCTTAAGTGTCTTGTACCTTAAGAAGCAAAGCAACTCTCCAGGGCATTTTATAAGGGCACTAATCATGAGAACTCTGCCTTTATGTAATTGCCTCCCAAGGCCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGANNNN | pathogenic | 284,353 |
Does the variant impacting METTL23 (methyltransferase 23, arginine) on chromosome 17, position 76733063, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Inborn_genetic_diseases', 'Intellectual_disability,_autosomal_recessive_44'] | GAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAAAGTCCTTACAGGTTCAGTGTCTGGTGAGGGCCAGAATTCTGGTTCAGACAGTGTCCTCTGTGTTCTTAAGTGTCTTGTACCTTAAGAAGCAAAGCAACTCTCCAGGGCATTTTATAAGGGCACTAATCATGAGAACTCTGCCTTTATGTAATTGCCTCCCAAGGCCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTAT | GAATGGTGGGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCATCTCAAAAAAAAAAAAGATAAAATTAGCCAGGCCTGGTGGCACATGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGTAGGAGAATCGCCTGAACCCAGGAGGTGGAGGCTGCAGTCAGCTGAGATTGTGCCACTGCACTCCAGCCTGGGCAACAGAGCGAGACTGCATCTCAAAAGAATAAAGAAATTTGGGTATCAGTTCTGGAGGCAGTGAAGTCCCAGGATGAAAGTCCTTACAGGTTCAGTGTCTGGTGAGGGCCAGAATTCTGGTTCAGACAGTGTCCTCTGTGTTCTTAAGTGTCTTGTACCTTAAGAAGCAAAGCAACTCTCCAGGGCATTTTATAAGGGCACTAATCATGAGAACTCTGCCTTTATGTAATTGCCTCCCAAGGCCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATNNNN | pathogenic | 284,354 |
Is the genetic change at chromosome 17, position 76733543, within gene METTL23 (methyltransferase 23, arginine) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability'] | CCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACA | CCCACATCAGATGGGTAATTAGGATTTGAACATATGAATTTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACANNNNN | pathogenic | 284,356 |
Does the variant impacting METTL23 (methyltransferase 23, arginine) on chromosome 17, position 76733582, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Intellectual_disability,_autosomal_recessive_44'] | TTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCTTGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACACTATCCTTTCCCCACCCAGTGCAATACCTGTAACTTTCT | TTTGGGTGAACACATTCAGACCGTAGTGTAGCCCTTTCTGTTTTTGGAAATGTTGAGATTAGTGTAAAAATGTATCCCATTCTCTTTCTAACCTCACTACCTGGCCTCAGACTGGTGAAGGCTTGGAAAAACCAATTTTATCACATTTGCAGAAATAGACTTTCACACCATACTTAAGACCAAAGGCTAAATAGACAAACCAGAAGCTTAATATTAACATCCCACTCTTAACTTTTACTACACCAAGTAAATGAAATTAGGGGTAGGATTTGGCACACACCTCTGGTCCTAGTTGTAATTGCTGGGCACTCACAATAATTCTATCTCTGTGTCCTTCCTTGAACTGGAAAATGGGAAGCTTGTGTTTATGCTAATACTTATGAAGGCATTCCCTGGTATTATTTCTTAGTGTCTGCAAAGCATCTTGCCGCTTTGAAGGCCCAACTGGAAAATCTTTACTAGAAAGCCATGTTGCAGACCTGTTAGGTTTTAGCTACAGAAAAGCAATCAACTATAGAACATGCTAACAGAAGTGAAAATTAGGCTGAGTGCTGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGACTGAGGCTGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCAGTCCCTACTAAAAAATACAAAATACTAGCCGAGTGGCTGGGCACGGTGGCTCATGCCTGTAATCCTAGCACTTTGGGAGGCCGAGACAGGTGGATCACCTGTCGGGAGTTCAAGACCAGCCTGACCAACAGGGAGAAACCCTGTCTCTACTAAAGAAATACAAAATTAGCTGGGCTTGGTGGTGCACGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCCGGGAGGCGGGGGTTGCAGTGAGCCAAGATTGCACCATTGTACTCCAGCCTGAGCAACAAGAGCCAAACGCTCTCAAAAAAAAAAAATTAGCTGGGCTTGGTGGCCAGTTACTCAGGAGGCTGAGGCAGGAGAATCACTGGAACCCGGGAAGCAGAGGTTGCAGTGAGCCGATATTGCACCACTGCACTCCAGCCTGGAGAACAGAGCAAGACTCCGTCTCAAAAAAATAAAACAAAACTGAAAATCATGGCAGAGGAATCAAGTGCCCCAAAACTACTTCTGTGTGCATAGCAATTAACTGCCAGTTACGATACATGGCCCTTTAATATTGAAATTGAAGGTTAAGCTTTTACCTTTTAGCAGAGTAGATTCATAAGGAATGTACTTTTGTCATGTTTATAGTAATGTTCAGTTACGGTACATTTTATACAAACCCAGAAAGACTGACTCTATGCTTATTTAAAAATGCAAGAATATAATGAAAAAGTACTAAGATTCCCAATTATTTGCAGTTCCAAGTATAATTGTGAAATGCCATCTTTCATAACTTATTAGATTGGAGCTGGAGTGAGCCTTCCAGGAATTTTGGCTGCCAAATGTGGTGCAGAAGTAATACTGTCAGACAGCTCAGAACTGCCTCACTGTCTGGAAGTCTGTCGGCAAAGCTGCCAAATGAATAACCTGCCACATCTGCAGGTGGTAGGACTAACATGGGGTCATATATCTTGGGATCTTCTGGCTCTACCACCACAAGATATTATCCTTGCATCTGATGTGTTCTTTGAACCAGAAGGTAAGCTTTTTTGGCTCAATAGTACATTTGGCCAGTGATGCTATATGAAAATCTATTCATAAATCCTTTCTCCTCAGATTTTGAAGACATTTTGGCTACAATATATTTTTTGATGCACAAGAATCCCAAGGTCCAATTGTGGTCTACTTATCAAGTTAGGAGGCAAGTATGGATGACCCTTACTTTTTATATGTAACTTAAGCCTTACTCTACCCTACCCATGCGATACATAATTTAAGAATAGAATACATCTGAAGCAAAACAGAAAAGGCATGACTTTAAAAGAACAACTTTTTTTTTTTAAGTGCTGACTGGTCACTTGAAGCTTTACTCTACAAATGGGATATGAAATGTGTCCACATTCCTCGAGTCTTTTGATGCAGACAAAGAAGATATAGCAGAATCTACCCTTCCAGGAAGACATACAGTTGAAATGCTGGTCATTTCCTTTGCAAAGGACAGTCTCTGAATTATACCTACAACCTGTTCTGGGACAGTATCAATACTGATGAGCAACCTGGCACACAAACTATGAGCAGACCACTTCAGCTTGAGAATGCAGTGGGTCTGAAGATGGTCAAGTCTGTTTGCCTTAGATTTTGATGTCACCTAGACAACACTTAAACTCATATGAAACAAAAATTAAAATACGTATTACAAGTACTTGGATTGTTCCTTAGTCATTAAATAGGATATAAATTAGGTTGAGAAGGGGGTATCACAACCTCAAGAAAAGTGCCACTTAAAGCATTGCTTTTAGGTGTTCAACTGGCATTTCCACTTTAACTTAGGAAATGATAGGCACTAAACATTCCACTTCCATACTATGCAGTCAGCCACAATCACAAAATTGAATAGGTCCTTCAAATAAATGGGGGAAAAAAAGACCGAGACATATTCTGAGAAAAGCTAACACCAAGAAAATGTTTTAATTAAACTACAGAAACAATGGTTATAATACAGAATATTCATAAGCAAAAAGATACACCATGTTATAAGTACTTACAAAGTTACAACCATTTGCTTCCTTAACATTTTCCATGTTAAGTTCATACATGTAGATATGATCAGATTTACCATTTTTAGGGGGAAGAGGGAAAAAAAGGTGTATTTATCATCAGCTAGATGTGCTCACTGTATGCTCCGTTATTTATATGCAAGGCCCGGGTGACTGGAAGTGCAGTTGTCAGGCATTTTAATAAACTGGACAGCCATTTGTTTCTGCACGACAAGGCATCTTTACACAGGAGCAATCGGGAGAAAACAGGAAACAGCCAAGCACTCTGCACTGCAACACGCCACCTTAACAGCTAACCAGCATTACTCAACTGCTACACAACTGCGCCTAGTGCACAAAAATACATAAGAGAAGAGATTAGAATTGTGTTTGATAAACAATCCTTTCAAAAAATCAAGTCTTTTCACCTGAAAAGTCTTTATACAAATTTGGGTTCAGATTACCATTTAGATCTGAAGGTAAATAACATATACAAATTTACACCAACTTTTGTAGGTTTTTAATTTTAAGGAATGAAGGCAATGCTGAGTCAATCTCTTGACAGCTTTAGGCTGTGTGTAATGGCTGCACACGTTTTCCTTAAAAGTCAGGAGGCCACAAATTAGGTTACCAATCTGTTTAATTTCAAACAAAAAAAGTCAGCACTATATAACAAAATGAAATTTTACCTCAAATATCCAAATCCAATAATGAAATCTGAAGTCGTTCACCTCACTAAATTACAAGAAATTTGAATAACAGCAACAAAATGGCACATAAAATGAAGTTTGCCAACTGAGGCAAAGCTTAAACAAGTAAAAAGTTAGACAAATGTTACAAAATAACCTTTTCAATAGCCAGTTGCTTGTTCCAAGGACTCTTCTTCGATGGACTATGTGGTCCTTTTTCCCCAAGTCCTCCGTTTACACTGCTTGCCGATACATCTAGGTTTGAAAAGAAAGAAGTTCAGCTTACCTTCCATTAAAGTGCACATGGTTTCAGTTTCAGGCACGTACTTACTAAGGCTCTGGTCAAACCAGTAGGGTACAGAAATGTTCCACCCAGCCATGTTTTTAAAAGGCCCAATTAGGAAAATTTCACAAAGGCTACCATCAGCATGTACAAGTTTGAATTTACGTATTCCTGGCCAAATAACCAAGGTGAAGAAAGGTAAGGGGAAGAAAAAAAAAGAAAAAAAAAAGGGCTGTATCCAAACAAAAACAACTCGAGATCAGAGAATTGGTCTATATTTCATTAAGATAAATTGTTTCAAATGAAACATTTGGTAATTGAGAATACTACTTTAATATCTGAGCTACTTAGGGCCCTTTCCTTTTTAAAAAATAGGACCAAACAATTTAAGAGTTAAAGACACACTATCCTTTCCCCACCCAGTGCAATACCTGTAACTTTCTNN | pathogenic | 284,357 |
Does the chromosome 17 mutation at position 77498705 within gene SEPTIN9 (septin 9) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGGCCCACTGCCCTGGCTTCTCCACTGTGGCTTCCTTCCATGCTCCTATTTGGCCTGGTCACTGTGCCATCTCCCATTAGCCAGGAACTTTCTGGAGAGCAGGAGCTGAGCTGTCCAGGAGCAGGAGCTGGTGCTGGTCACTCCAGTATCCCCCAGACTGAGGGCAGTGCCAGGTGTCCTATACTCAGCTGCAGAGCAGGTGGTTCCCCTGCCCTCCTGCCCATGGGGCTGCCCTCAGACTCTGCTTTTGGCACCAGCATTTCTGGGCAGGGGGAGAGAGGTGGGGTCCGGGCAGAGTTTCTCCACTGGGACATTAAAGCCCCTCCTGTCTCCTCTCCTAGTTGAAAACACCACACACTGTGAGTTTGCCTACCTGCGGGACCTTCTCATCAGGTGAGAGACAGGGTGCTTGGGTGGGGCTGACGGCTTCACCCCTAAGAGGGCCCTACAGCGGGTGGGGGCAGTGGGTGTGGGGCCGAAGCCCTGGGCAGAGTGGGTGCCCCCTGCCACCTGCCTGCCCTGCCCTCGGGAAGATCTTGGAAGCCCATCTTCTGAAAAAGAAAACCCACTGGGAAATGAAGCAGGCAGTGAAGATCCTTTTCAACCCCTGCGAAGTTGGCTGGATGGGAAGGCTGAGCTTTGATCCACTGTGGTCTGGCCCGTTAGAGCTGCCCGGTGGCCACTAAGGGCCCAGTGAGGCCTCATGTGCAGGCCCTGCCGGCAGCGTGGGGCGTCTCCAGCTCCGATCCCACTGGCCTCTGACCCCTACCCCTTTCACCTGGCTGAGGCTTCTCCTTGTTTCCCTTGAGTCCAGGCAAGGAGGGGAAGCCCTGATGGAGAGGGTGCTGGGTGGGTGGTCCCTGGAGTGTGGGCCCTGGCCTGGGCAGGTTCTTCCTCAGCAAGCAGCTGGCATGGATGATGGGAATGTTATCAAGAGGAGGGGCCTCCAGGTTGGCGGGGGCAGGGGTGGGGGGATTCCGGGAGCCGTTCTGCCATTGTGGGGATACTGGGCTTTCCAACCTCCCTCCAGATTATTCCTCCTGAGCTGCAGAGGAATGAAAATCCGAGCCCAGGACTTTTTTTTCCTGGGGACAAGGGCAACCCAGCCCTTTGCCCCAGGCCACCTGCCTGCCACAGGCCATAGTCCTGGAGGCCGGTGGTCACCCACTGCTTCCACCCTGCCAGCACCCTGGACACCGGCCTGGAGCAACAATGCTCCAGCCCTGTCCCTCTGAGTCTATGCACTGTCCCTGGGCCCTGGACCCAGGGCCATAGGGTGGACCCAGAGGGAGACACATGCACTGGAATATGTGTGTTCTGACCGAGTCTGGGCTTACCAGGGGGACTGACCCTTCCCCCAAAACGTGTACCAGATCTGGTCCAACATGGTGGGCCTGGGGGACCCCATGGGGAGCCAAGCAGTCGGGATGGGGAGTGGGGGTGGGGGCAGGCGGGCCTGAGTCCGAGGCAGGCCGAGCAGGGCCCCTGCCCCGCTGCCCCCACCCCGCTGCGCCCACCTCACTGACCCGCCCGCCCCCCACCCCCACAGGACGCACATGCAGAACATCAAGGACATCACCAGCAGCATCCACTTCGAGGCGTACCGTGTGAAGCGCCTCAACGAGGGCAGCAGCGCCATGGCCAACGGCATGGAGGAGAAGGAGCCAGAAGCCCCGGAGATGTAGACGCCACCCTGCCCACCCCCGGGATCCTGCCCCCAAGTCATTTCCGTCCCCCCCCAGGCCCTCCCACCACCCCATTTTATTTTATATGATTTTCTCCATTTGTCATCGTTCCCCACCCCTTCGACATGCTGCCAGGAAACAAGGGAAGGGGCCTCCCTCCGAGTGAGTCAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTGCACTGGAGCCACAGGCAGGGGTGAGAGCACCCACTGAATTGACATGACCCTCTGTCCCCAGGCCTGGCTCCCCGAGGGCTCAGAAGAGCAGCTTCGGTGTGCAGATCATCCGTCTGTGTGGGGTTCTCAGTGCCGGAGGCCTTGGGGTGGGGGCCAGGCCTCGCACTTGCAGAGGAGCCCAGTGGGCTGCACGCTCCCCTCCATCCCCATCGGCCCTGTCCCCTGGAGTGTGTCAGAGCCCAGGGGAGAATGCAGCCCACCAGGAGCACCTGGACCCCCTGCCCGCCACATGGTGTGGCCATCACTCAGCCCCTACCCCTGCCCTGCTCCTAAGGGTAGAAAACTCCAGGGTCCCCTGCCACCGACTGCCCAGCCACTCCAAGCCCCCTGGCAGCTGCCCCTCCTGGAGCAGAAAGTGCCTTTATCTCAGCCATCCGCAGACTGCTTGGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGCGTCTTCATCTCCCTGCCATCCCCCTCTCACGCCACCCCCGCCCCCACCGGGCTGCAGGTGCTGCTGATGCGCTGGGATCTGATTGAGGATAAAAAGGAAGGAGAGATGACCCCTACCCCCTCATCCCCCAGTTTTGAAAAGGTCTAAGCAAGTGAGTCTGGTGGAGGAGCTGAGGGAGGGAGCCATGGAAGGTGCCAGAAGGAAGGTTGGCGGGGGCACGTGTGGGCCGTGGCTTGGGCTGGTCAGAGTGGCGTGAGCTGCCCGGCGCCTGCCCTGCCCAAGTGACCAGGGAAGTGTGTGTGTGTCCATGTGTATGCGTGTCCGTCTGTCTGTCTAGTGTCTGGGTTTGGCCCAAGACTGGGCTGTAGTTACATTAATGCCCAGCCAGCCACCCCTGCCACTCACCCTTCCTGGCCCAGGCCTTGCTGACTCTCTGAGCTGGGGAGGTGGGAGGCCAGGCGAGCCTGACTCTGTTGATCTACCCGTGCCTGGGCCCCTCCCCTCAGAGCCCATGGTAACGAACCCCTAGAAAGGAGAGAACGGGCGTCAGGGGTGCACAGTCCACAGCTGAAGAGCAAGGTTTCGTGGCAGCACGGCCCGGCCCCTCACCCTCTGTCCCCACGAGGGGACCCATGGGGGCTGTCTTTGCAGGGCACAGATGACCAAAGTCCCTTCCTGCTTCCTGTTACCTGTCTTGCTCCTGGGGAGAAAGAGGGGCCTGATGAGACTCCACTCAGGTGCACACATCACCAGGTGCATCTGCAGGCACCGGGCTGGCTGCTTGCAGCCAGGAGAAGGTCAGCGAGAAGGAGTGTATGAGTGTGAGTGTGTGTGCATGGAAGTTGGGGCACTGGGCGTCTGACTCCCTCCCCACCCAAGAGAGGAAGGACCCCTCACCACCCCCACTGGTGAGACAGTTTACTTTGCCAACTTGCCATGTTTTTGCCAAAACCAAGATTTTGAAGGAAATGAGTGGCCAGCGCCAGGGCCCAGGCCATGTGGCCTGCCCAGCCTCAATGTCACTTGGTGGCGGGGTGGGGTGGGGGTGGGCAGCAGCATCCCAGCCTTGAGATGCTTCACTTTCCTTCTCTGTAACCAGACTTTGAAAAATTGTTCGTTTCATCAGGCTCTGTTCCTCAATGGCCTTTTGCTACGTGCCTCCCGAGAAATTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTATTTCCTGAAATAAATGTTTCAAATGCAGAAACCCAGAAGGCTCCTGAGTGAGAATGTTTTTTCTGCCCCTGAAGTGCAGTTCTTTGGGCCTCGGGACAGGTTGGGGTCAGCTGCAGGTGGGCAAGAAGCATGGGCAAGAAAAGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACT | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGGCCCACTGCCCTGGCTTCTCCACTGTGGCTTCCTTCCATGCTCCTATTTGGCCTGGTCACTGTGCCATCTCCCATTAGCCAGGAACTTTCTGGAGAGCAGGAGCTGAGCTGTCCAGGAGCAGGAGCTGGTGCTGGTCACTCCAGTATCCCCCAGACTGAGGGCAGTGCCAGGTGTCCTATACTCAGCTGCAGAGCAGGTGGTTCCCCTGCCCTCCTGCCCATGGGGCTGCCCTCAGACTCTGCTTTTGGCACCAGCATTTCTGGGCAGGGGGAGAGAGGTGGGGTCCGGGCAGAGTTTCTCCACTGGGACATTAAAGCCCCTCCTGTCTCCTCTCCTAGTTGAAAACACCACACACTGTGAGTTTGCCTACCTGCGGGACCTTCTCATCAGGTGAGAGACAGGGTGCTTGGGTGGGGCTGACGGCTTCACCCCTAAGAGGGCCCTACAGCGGGTGGGGGCAGTGGGTGTGGGGCCGAAGCCCTGGGCAGAGTGGGTGCCCCCTGCCACCTGCCTGCCCTGCCCTCGGGAAGATCTTGGAAGCCCATCTTCTGAAAAAGAAAACCCACTGGGAAATGAAGCAGGCAGTGAAGATCCTTTTCAACCCCTGCGAAGTTGGCTGGATGGGAAGGCTGAGCTTTGATCCACTGTGGTCTGGCCCGTTAGAGCTGCCCGGTGGCCACTAAGGGCCCAGTGAGGCCTCATGTGCAGGCCCTGCCGGCAGCGTGGGGCGTCTCCAGCTCCGATCCCACTGGCCTCTGACCCCTACCCCTTTCACCTGGCTGAGGCTTCTCCTTGTTTCCCTTGAGTCCAGGCAAGGAGGGGAAGCCCTGATGGAGAGGGTGCTGGGTGGGTGGTCCCTGGAGTGTGGGCCCTGGCCTGGGCAGGTTCTTCCTCAGCAAGCAGCTGGCATGGATGATGGGAATGTTATCAAGAGGAGGGGCCTCCAGGTTGGCGGGGGCAGGGGTGGGGGGATTCCGGGAGCCGTTCTGCCATTGTGGGGATACTGGGCTTTCCAACCTCCCTCCAGATTATTCCTCCTGAGCTGCAGAGGAATGAAAATCCGAGCCCAGGACTTTTTTTTCCTGGGGACAAGGGCAACCCAGCCCTTTGCCCCAGGCCACCTGCCTGCCACAGGCCATAGTCCTGGAGGCCGGTGGTCACCCACTGCTTCCACCCTGCCAGCACCCTGGACACCGGCCTGGAGCAACAATGCTCCAGCCCTGTCCCTCTGAGTCTATGCACTGTCCCTGGGCCCTGGACCCAGGGCCATAGGGTGGACCCAGAGGGAGACACATGCACTGGAATATGTGTGTTCTGACCGAGTCTGGGCTTACCAGGGGGACTGACCCTTCCCCCAAAACGTGTACCAGATCTGGTCCAACATGGTGGGCCTGGGGGACCCCATGGGGAGCCAAGCAGTCGGGATGGGGAGTGGGGGTGGGGGCAGGCGGGCCTGAGTCCGAGGCAGGCCGAGCAGGGCCCCTGCCCCGCTGCCCCCACCCCGCTGCGCCCACCTCACTGACCCGCCCGCCCCCCACCCCCACAGGACGCACATGCAGAACATCAAGGACATCACCAGCAGCATCCACTTCGAGGCGTACCGTGTGAAGCGCCTCAACGAGGGCAGCAGCGCCATGGCCAACGGCATGGAGGAGAAGGAGCCAGAAGCCCCGGAGATGTAGACGCCACCCTGCCCACCCCCGGGATCCTGCCCCCAAGTCATTTCCGTCCCCCCCCCAGGCCCTCCCACCACCCCATTTTATTTTATATGATTTTCTCCATTTGTCATCGTTCCCCACCCCTTCGACATGCTGCCAGGAAACAAGGGAAGGGGCCTCCCTCCGAGTGAGTCAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTGCACTGGAGCCACAGGCAGGGGTGAGAGCACCCACTGAATTGACATGACCCTCTGTCCCCAGGCCTGGCTCCCCGAGGGCTCAGAAGAGCAGCTTCGGTGTGCAGATCATCCGTCTGTGTGGGGTTCTCAGTGCCGGAGGCCTTGGGGTGGGGGCCAGGCCTCGCACTTGCAGAGGAGCCCAGTGGGCTGCACGCTCCCCTCCATCCCCATCGGCCCTGTCCCCTGGAGTGTGTCAGAGCCCAGGGGAGAATGCAGCCCACCAGGAGCACCTGGACCCCCTGCCCGCCACATGGTGTGGCCATCACTCAGCCCCTACCCCTGCCCTGCTCCTAAGGGTAGAAAACTCCAGGGTCCCCTGCCACCGACTGCCCAGCCACTCCAAGCCCCCTGGCAGCTGCCCCTCCTGGAGCAGAAAGTGCCTTTATCTCAGCCATCCGCAGACTGCTTGGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGCGTCTTCATCTCCCTGCCATCCCCCTCTCACGCCACCCCCGCCCCCACCGGGCTGCAGGTGCTGCTGATGCGCTGGGATCTGATTGAGGATAAAAAGGAAGGAGAGATGACCCCTACCCCCTCATCCCCCAGTTTTGAAAAGGTCTAAGCAAGTGAGTCTGGTGGAGGAGCTGAGGGAGGGAGCCATGGAAGGTGCCAGAAGGAAGGTTGGCGGGGGCACGTGTGGGCCGTGGCTTGGGCTGGTCAGAGTGGCGTGAGCTGCCCGGCGCCTGCCCTGCCCAAGTGACCAGGGAAGTGTGTGTGTGTCCATGTGTATGCGTGTCCGTCTGTCTGTCTAGTGTCTGGGTTTGGCCCAAGACTGGGCTGTAGTTACATTAATGCCCAGCCAGCCACCCCTGCCACTCACCCTTCCTGGCCCAGGCCTTGCTGACTCTCTGAGCTGGGGAGGTGGGAGGCCAGGCGAGCCTGACTCTGTTGATCTACCCGTGCCTGGGCCCCTCCCCTCAGAGCCCATGGTAACGAACCCCTAGAAAGGAGAGAACGGGCGTCAGGGGTGCACAGTCCACAGCTGAAGAGCAAGGTTTCGTGGCAGCACGGCCCGGCCCCTCACCCTCTGTCCCCACGAGGGGACCCATGGGGGCTGTCTTTGCAGGGCACAGATGACCAAAGTCCCTTCCTGCTTCCTGTTACCTGTCTTGCTCCTGGGGAGAAAGAGGGGCCTGATGAGACTCCACTCAGGTGCACACATCACCAGGTGCATCTGCAGGCACCGGGCTGGCTGCTTGCAGCCAGGAGAAGGTCAGCGAGAAGGAGTGTATGAGTGTGAGTGTGTGTGCATGGAAGTTGGGGCACTGGGCGTCTGACTCCCTCCCCACCCAAGAGAGGAAGGACCCCTCACCACCCCCACTGGTGAGACAGTTTACTTTGCCAACTTGCCATGTTTTTGCCAAAACCAAGATTTTGAAGGAAATGAGTGGCCAGCGCCAGGGCCCAGGCCATGTGGCCTGCCCAGCCTCAATGTCACTTGGTGGCGGGGTGGGGTGGGGGTGGGCAGCAGCATCCCAGCCTTGAGATGCTTCACTTTCCTTCTCTGTAACCAGACTTTGAAAAATTGTTCGTTTCATCAGGCTCTGTTCCTCAATGGCCTTTTGCTACGTGCCTCCCGAGAAATTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTATTTCCTGAAATAAATGTTTCAAATGCAGAAACCCAGAAGGCTCCTGAGTGAGAATGTTTTTTCTGCCCCTGAAGTGCAGTTCTTTGGGCCTCGGGACAGGTTGGGGTCAGCTGCAGGTGGGCAAGAAGCATGGGCAAGAAAAGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGAC | benign | 284,456 |
Does the genetic variant at chromosome 17, position 77498705, impacting gene SEPTIN9 (septin 9), appear benign or pathogenic? If pathogenic, name the associated disease(s). | benign | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGGCCCACTGCCCTGGCTTCTCCACTGTGGCTTCCTTCCATGCTCCTATTTGGCCTGGTCACTGTGCCATCTCCCATTAGCCAGGAACTTTCTGGAGAGCAGGAGCTGAGCTGTCCAGGAGCAGGAGCTGGTGCTGGTCACTCCAGTATCCCCCAGACTGAGGGCAGTGCCAGGTGTCCTATACTCAGCTGCAGAGCAGGTGGTTCCCCTGCCCTCCTGCCCATGGGGCTGCCCTCAGACTCTGCTTTTGGCACCAGCATTTCTGGGCAGGGGGAGAGAGGTGGGGTCCGGGCAGAGTTTCTCCACTGGGACATTAAAGCCCCTCCTGTCTCCTCTCCTAGTTGAAAACACCACACACTGTGAGTTTGCCTACCTGCGGGACCTTCTCATCAGGTGAGAGACAGGGTGCTTGGGTGGGGCTGACGGCTTCACCCCTAAGAGGGCCCTACAGCGGGTGGGGGCAGTGGGTGTGGGGCCGAAGCCCTGGGCAGAGTGGGTGCCCCCTGCCACCTGCCTGCCCTGCCCTCGGGAAGATCTTGGAAGCCCATCTTCTGAAAAAGAAAACCCACTGGGAAATGAAGCAGGCAGTGAAGATCCTTTTCAACCCCTGCGAAGTTGGCTGGATGGGAAGGCTGAGCTTTGATCCACTGTGGTCTGGCCCGTTAGAGCTGCCCGGTGGCCACTAAGGGCCCAGTGAGGCCTCATGTGCAGGCCCTGCCGGCAGCGTGGGGCGTCTCCAGCTCCGATCCCACTGGCCTCTGACCCCTACCCCTTTCACCTGGCTGAGGCTTCTCCTTGTTTCCCTTGAGTCCAGGCAAGGAGGGGAAGCCCTGATGGAGAGGGTGCTGGGTGGGTGGTCCCTGGAGTGTGGGCCCTGGCCTGGGCAGGTTCTTCCTCAGCAAGCAGCTGGCATGGATGATGGGAATGTTATCAAGAGGAGGGGCCTCCAGGTTGGCGGGGGCAGGGGTGGGGGGATTCCGGGAGCCGTTCTGCCATTGTGGGGATACTGGGCTTTCCAACCTCCCTCCAGATTATTCCTCCTGAGCTGCAGAGGAATGAAAATCCGAGCCCAGGACTTTTTTTTCCTGGGGACAAGGGCAACCCAGCCCTTTGCCCCAGGCCACCTGCCTGCCACAGGCCATAGTCCTGGAGGCCGGTGGTCACCCACTGCTTCCACCCTGCCAGCACCCTGGACACCGGCCTGGAGCAACAATGCTCCAGCCCTGTCCCTCTGAGTCTATGCACTGTCCCTGGGCCCTGGACCCAGGGCCATAGGGTGGACCCAGAGGGAGACACATGCACTGGAATATGTGTGTTCTGACCGAGTCTGGGCTTACCAGGGGGACTGACCCTTCCCCCAAAACGTGTACCAGATCTGGTCCAACATGGTGGGCCTGGGGGACCCCATGGGGAGCCAAGCAGTCGGGATGGGGAGTGGGGGTGGGGGCAGGCGGGCCTGAGTCCGAGGCAGGCCGAGCAGGGCCCCTGCCCCGCTGCCCCCACCCCGCTGCGCCCACCTCACTGACCCGCCCGCCCCCCACCCCCACAGGACGCACATGCAGAACATCAAGGACATCACCAGCAGCATCCACTTCGAGGCGTACCGTGTGAAGCGCCTCAACGAGGGCAGCAGCGCCATGGCCAACGGCATGGAGGAGAAGGAGCCAGAAGCCCCGGAGATGTAGACGCCACCCTGCCCACCCCCGGGATCCTGCCCCCAAGTCATTTCCGTCCCCCCCCAGGCCCTCCCACCACCCCATTTTATTTTATATGATTTTCTCCATTTGTCATCGTTCCCCACCCCTTCGACATGCTGCCAGGAAACAAGGGAAGGGGCCTCCCTCCGAGTGAGTCAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTGCACTGGAGCCACAGGCAGGGGTGAGAGCACCCACTGAATTGACATGACCCTCTGTCCCCAGGCCTGGCTCCCCGAGGGCTCAGAAGAGCAGCTTCGGTGTGCAGATCATCCGTCTGTGTGGGGTTCTCAGTGCCGGAGGCCTTGGGGTGGGGGCCAGGCCTCGCACTTGCAGAGGAGCCCAGTGGGCTGCACGCTCCCCTCCATCCCCATCGGCCCTGTCCCCTGGAGTGTGTCAGAGCCCAGGGGAGAATGCAGCCCACCAGGAGCACCTGGACCCCCTGCCCGCCACATGGTGTGGCCATCACTCAGCCCCTACCCCTGCCCTGCTCCTAAGGGTAGAAAACTCCAGGGTCCCCTGCCACCGACTGCCCAGCCACTCCAAGCCCCCTGGCAGCTGCCCCTCCTGGAGCAGAAAGTGCCTTTATCTCAGCCATCCGCAGACTGCTTGGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGCGTCTTCATCTCCCTGCCATCCCCCTCTCACGCCACCCCCGCCCCCACCGGGCTGCAGGTGCTGCTGATGCGCTGGGATCTGATTGAGGATAAAAAGGAAGGAGAGATGACCCCTACCCCCTCATCCCCCAGTTTTGAAAAGGTCTAAGCAAGTGAGTCTGGTGGAGGAGCTGAGGGAGGGAGCCATGGAAGGTGCCAGAAGGAAGGTTGGCGGGGGCACGTGTGGGCCGTGGCTTGGGCTGGTCAGAGTGGCGTGAGCTGCCCGGCGCCTGCCCTGCCCAAGTGACCAGGGAAGTGTGTGTGTGTCCATGTGTATGCGTGTCCGTCTGTCTGTCTAGTGTCTGGGTTTGGCCCAAGACTGGGCTGTAGTTACATTAATGCCCAGCCAGCCACCCCTGCCACTCACCCTTCCTGGCCCAGGCCTTGCTGACTCTCTGAGCTGGGGAGGTGGGAGGCCAGGCGAGCCTGACTCTGTTGATCTACCCGTGCCTGGGCCCCTCCCCTCAGAGCCCATGGTAACGAACCCCTAGAAAGGAGAGAACGGGCGTCAGGGGTGCACAGTCCACAGCTGAAGAGCAAGGTTTCGTGGCAGCACGGCCCGGCCCCTCACCCTCTGTCCCCACGAGGGGACCCATGGGGGCTGTCTTTGCAGGGCACAGATGACCAAAGTCCCTTCCTGCTTCCTGTTACCTGTCTTGCTCCTGGGGAGAAAGAGGGGCCTGATGAGACTCCACTCAGGTGCACACATCACCAGGTGCATCTGCAGGCACCGGGCTGGCTGCTTGCAGCCAGGAGAAGGTCAGCGAGAAGGAGTGTATGAGTGTGAGTGTGTGTGCATGGAAGTTGGGGCACTGGGCGTCTGACTCCCTCCCCACCCAAGAGAGGAAGGACCCCTCACCACCCCCACTGGTGAGACAGTTTACTTTGCCAACTTGCCATGTTTTTGCCAAAACCAAGATTTTGAAGGAAATGAGTGGCCAGCGCCAGGGCCCAGGCCATGTGGCCTGCCCAGCCTCAATGTCACTTGGTGGCGGGGTGGGGTGGGGGTGGGCAGCAGCATCCCAGCCTTGAGATGCTTCACTTTCCTTCTCTGTAACCAGACTTTGAAAAATTGTTCGTTTCATCAGGCTCTGTTCCTCAATGGCCTTTTGCTACGTGCCTCCCGAGAAATTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTATTTCCTGAAATAAATGTTTCAAATGCAGAAACCCAGAAGGCTCCTGAGTGAGAATGTTTTTTCTGCCCCTGAAGTGCAGTTCTTTGGGCCTCGGGACAGGTTGGGGTCAGCTGCAGGTGGGCAAGAAGCATGGGCAAGAAAAGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGACT | GGCCACTGTCCCGAGCTTGGGCTTGTATGTATTGTGTGAAGTGCACATGTCCCTGAGCAATGTTTAGCATTGCTGATTCTTGAGCTTGTGAATGGTCGTCCACAGTACGTAGCCCCTGTGTGTGTCCCTGTGTGTGTGTGCTCTGAGCGCACACAAGGTGGATGGGGCCGTGGGGGTAACACCCTGTGGGCCACAGGTTTTCTTTAAAATCCCAGCTCCGATTCCTGCTTCATCCCATTCCCAGCAGCCCAGCCCCCTGCCTGTCTTCAGGCCCCTGCTGGGACGTCCTGCTCTCCCTGGTCACCCCAGTGGTGCGGGGGCCCACTGCCCTGGCTTCTCCACTGTGGCTTCCTTCCATGCTCCTATTTGGCCTGGTCACTGTGCCATCTCCCATTAGCCAGGAACTTTCTGGAGAGCAGGAGCTGAGCTGTCCAGGAGCAGGAGCTGGTGCTGGTCACTCCAGTATCCCCCAGACTGAGGGCAGTGCCAGGTGTCCTATACTCAGCTGCAGAGCAGGTGGTTCCCCTGCCCTCCTGCCCATGGGGCTGCCCTCAGACTCTGCTTTTGGCACCAGCATTTCTGGGCAGGGGGAGAGAGGTGGGGTCCGGGCAGAGTTTCTCCACTGGGACATTAAAGCCCCTCCTGTCTCCTCTCCTAGTTGAAAACACCACACACTGTGAGTTTGCCTACCTGCGGGACCTTCTCATCAGGTGAGAGACAGGGTGCTTGGGTGGGGCTGACGGCTTCACCCCTAAGAGGGCCCTACAGCGGGTGGGGGCAGTGGGTGTGGGGCCGAAGCCCTGGGCAGAGTGGGTGCCCCCTGCCACCTGCCTGCCCTGCCCTCGGGAAGATCTTGGAAGCCCATCTTCTGAAAAAGAAAACCCACTGGGAAATGAAGCAGGCAGTGAAGATCCTTTTCAACCCCTGCGAAGTTGGCTGGATGGGAAGGCTGAGCTTTGATCCACTGTGGTCTGGCCCGTTAGAGCTGCCCGGTGGCCACTAAGGGCCCAGTGAGGCCTCATGTGCAGGCCCTGCCGGCAGCGTGGGGCGTCTCCAGCTCCGATCCCACTGGCCTCTGACCCCTACCCCTTTCACCTGGCTGAGGCTTCTCCTTGTTTCCCTTGAGTCCAGGCAAGGAGGGGAAGCCCTGATGGAGAGGGTGCTGGGTGGGTGGTCCCTGGAGTGTGGGCCCTGGCCTGGGCAGGTTCTTCCTCAGCAAGCAGCTGGCATGGATGATGGGAATGTTATCAAGAGGAGGGGCCTCCAGGTTGGCGGGGGCAGGGGTGGGGGGATTCCGGGAGCCGTTCTGCCATTGTGGGGATACTGGGCTTTCCAACCTCCCTCCAGATTATTCCTCCTGAGCTGCAGAGGAATGAAAATCCGAGCCCAGGACTTTTTTTTCCTGGGGACAAGGGCAACCCAGCCCTTTGCCCCAGGCCACCTGCCTGCCACAGGCCATAGTCCTGGAGGCCGGTGGTCACCCACTGCTTCCACCCTGCCAGCACCCTGGACACCGGCCTGGAGCAACAATGCTCCAGCCCTGTCCCTCTGAGTCTATGCACTGTCCCTGGGCCCTGGACCCAGGGCCATAGGGTGGACCCAGAGGGAGACACATGCACTGGAATATGTGTGTTCTGACCGAGTCTGGGCTTACCAGGGGGACTGACCCTTCCCCCAAAACGTGTACCAGATCTGGTCCAACATGGTGGGCCTGGGGGACCCCATGGGGAGCCAAGCAGTCGGGATGGGGAGTGGGGGTGGGGGCAGGCGGGCCTGAGTCCGAGGCAGGCCGAGCAGGGCCCCTGCCCCGCTGCCCCCACCCCGCTGCGCCCACCTCACTGACCCGCCCGCCCCCCACCCCCACAGGACGCACATGCAGAACATCAAGGACATCACCAGCAGCATCCACTTCGAGGCGTACCGTGTGAAGCGCCTCAACGAGGGCAGCAGCGCCATGGCCAACGGCATGGAGGAGAAGGAGCCAGAAGCCCCGGAGATGTAGACGCCACCCTGCCCACCCCCGGGATCCTGCCCCCAAGTCATTTCCGTCCCCCCCCCCAGGCCCTCCCACCACCCCATTTTATTTTATATGATTTTCTCCATTTGTCATCGTTCCCCACCCCTTCGACATGCTGCCAGGAAACAAGGGAAGGGGCCTCCCTCCGAGTGAGTCAGTGATGAGGCCGCGGCCTCCCCGAGGTTGTGGGGAGGCTGCACTGGAGCCACAGGCAGGGGTGAGAGCACCCACTGAATTGACATGACCCTCTGTCCCCAGGCCTGGCTCCCCGAGGGCTCAGAAGAGCAGCTTCGGTGTGCAGATCATCCGTCTGTGTGGGGTTCTCAGTGCCGGAGGCCTTGGGGTGGGGGCCAGGCCTCGCACTTGCAGAGGAGCCCAGTGGGCTGCACGCTCCCCTCCATCCCCATCGGCCCTGTCCCCTGGAGTGTGTCAGAGCCCAGGGGAGAATGCAGCCCACCAGGAGCACCTGGACCCCCTGCCCGCCACATGGTGTGGCCATCACTCAGCCCCTACCCCTGCCCTGCTCCTAAGGGTAGAAAACTCCAGGGTCCCCTGCCACCGACTGCCCAGCCACTCCAAGCCCCCTGGCAGCTGCCCCTCCTGGAGCAGAAAGTGCCTTTATCTCAGCCATCCGCAGACTGCTTGGCCAGATGCGGGGACAGGCTGGAATGAGGGAGGCGTCTTCATCTCCCTGCCATCCCCCTCTCACGCCACCCCCGCCCCCACCGGGCTGCAGGTGCTGCTGATGCGCTGGGATCTGATTGAGGATAAAAAGGAAGGAGAGATGACCCCTACCCCCTCATCCCCCAGTTTTGAAAAGGTCTAAGCAAGTGAGTCTGGTGGAGGAGCTGAGGGAGGGAGCCATGGAAGGTGCCAGAAGGAAGGTTGGCGGGGGCACGTGTGGGCCGTGGCTTGGGCTGGTCAGAGTGGCGTGAGCTGCCCGGCGCCTGCCCTGCCCAAGTGACCAGGGAAGTGTGTGTGTGTCCATGTGTATGCGTGTCCGTCTGTCTGTCTAGTGTCTGGGTTTGGCCCAAGACTGGGCTGTAGTTACATTAATGCCCAGCCAGCCACCCCTGCCACTCACCCTTCCTGGCCCAGGCCTTGCTGACTCTCTGAGCTGGGGAGGTGGGAGGCCAGGCGAGCCTGACTCTGTTGATCTACCCGTGCCTGGGCCCCTCCCCTCAGAGCCCATGGTAACGAACCCCTAGAAAGGAGAGAACGGGCGTCAGGGGTGCACAGTCCACAGCTGAAGAGCAAGGTTTCGTGGCAGCACGGCCCGGCCCCTCACCCTCTGTCCCCACGAGGGGACCCATGGGGGCTGTCTTTGCAGGGCACAGATGACCAAAGTCCCTTCCTGCTTCCTGTTACCTGTCTTGCTCCTGGGGAGAAAGAGGGGCCTGATGAGACTCCACTCAGGTGCACACATCACCAGGTGCATCTGCAGGCACCGGGCTGGCTGCTTGCAGCCAGGAGAAGGTCAGCGAGAAGGAGTGTATGAGTGTGAGTGTGTGTGCATGGAAGTTGGGGCACTGGGCGTCTGACTCCCTCCCCACCCAAGAGAGGAAGGACCCCTCACCACCCCCACTGGTGAGACAGTTTACTTTGCCAACTTGCCATGTTTTTGCCAAAACCAAGATTTTGAAGGAAATGAGTGGCCAGCGCCAGGGCCCAGGCCATGTGGCCTGCCCAGCCTCAATGTCACTTGGTGGCGGGGTGGGGTGGGGGTGGGCAGCAGCATCCCAGCCTTGAGATGCTTCACTTTCCTTCTCTGTAACCAGACTTTGAAAAATTGTTCGTTTCATCAGGCTCTGTTCCTCAATGGCCTTTTGCTACGTGCCTCCCGAGAAATTTGTCTTTTTGTATAAATGACAAAGTGTTGAAAATGTATTTCCTGAAATAAATGTTTCAAATGCAGAAACCCAGAAGGCTCCTGAGTGAGAATGTTTTTTCTGCCCCTGAAGTGCAGTTCTTTGGGCCTCGGGACAGGTTGGGGTCAGCTGCAGGTGGGCAAGAAGCATGGGCAAGAAAAGGTAGGCCGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGA | benign | 284,457 |
Variant in gene TMC6 (transmembrane channel like 6), located at chromosome 17 position 78119397: benign or pathogenic? What disease(s) does it cause if pathogenic? | benign | TGCGGGAGAGGGGCTGTCGGGCAGGGCCCAGGGCCACAGCCCGGGAGCGGCCAGTCCCCACACGGTGCAGGCCCAGCGAGGGCCATCTCCCCAGGGCCGCCCCCACCTGCGGGACTCACAGCAGCAGGGCTGACACCAGGAAGACAAAGAAGGTGTTTTCCATCAGGTACCGGTGCACCCAGGGCAGCCAGGAGACCCTGGGGCCTGCCGCCTCCAGGTGGCGCACCCACACCCTGCCGGCCTCGTACATGGTGTCCAGGGTCCGGAAGGGGCCGCAGGTGCTCGAGGGCTTCACCCTGGGGAAGATGCCGACCAGGAACCCTCACCCCGAGCAACAGTTCACCCGGCTCCCTCCCAGCCCGTCCTCTGCACCCCTAAGCCTTGGGCCCCCCAGGCACCACCACCCAACCCCCAGATGACACAGAAGGGTCTCCCTCCACCCGCCCCACTCACTGCCAGACGGCGTAGCAGAGGAAGACAGCGGCGCCCAGGAAGGCGGGGAAGCAGAGCAGCGTGAGGAAGACGGTGCTCATGTGTGAGGCCAGCCAGGGCCGGCGCGGCGCCTGGCAGTTGGCCAGAAGGCTGGTCTGTGGGGAAAGGCTGCGCTCTGCCACCATCCTGCTACCCCTCAGCACCCCTCCAAGCCCTGGGGGAGCTCAAGAGGGAAGGGCGACCAGGGCTGTGCGTCCAGGCAGAGCCTGGACCCTGCTCCCTGCAGCCTCCTCATTTACAGAGGAAGACAGAAGCCTGCCGGTCACTTGCACGCAAACGGGTGATGCCAACAGCACCTCCATCTGCTGAAGGTCGCTGCCATGCCAGGCTCTGCACACAACACTGTACACACCACCTCCCTCAGTCCCCACTGGAACATGGTCCCCACTGCAGGGATGAGGAAACAAAAGGCCAGACGAGACAGGAGCCAGGATGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAAGCAAGACTCTGTCTCAAAAAATAAAATAAAATAAAAAGACAGGAGCCAGGATGGGAAGAAAGGTCCCAGTTCTCAGCCACTGGGCATGACCCAGTTGCGGAGAGAGGCCCAGCATCACTTTTCCAGGGACCCAGAGGTCCCAAGGCTTGGTGTCTCCCAGAGCCCTGGCCCTACCCCTGGCCAGGTGCACACAGGTACCTGCTAATGACCTCTGAACCCAGCGATGCTTCCCAGCCTGCCGAAGACAGTGATGCCAAGAGGGGTCAGCCGTCCCTTGGGCGGAGGGACAGGCCAGGGCAGCCCCGAGCCGCCAGCCCCACTCCACTCAGGTGGGGAGGGTTCTAGTGTCCCAGGCTCTGCCCAGCTGAGTCCTGCCCCCACTGCCGGCCACCCTGCCAGCCCAGCCCTCCCCAGGCCTTGGCAGCCTCACCTTCTTGACATAGAAGACGAGCAGCAGCTTGATGATCTGCACGGCGGGGAGGAGGGGCGAGAAGAGCACCCCCAGCCTGGGGAGGGGGTGGCAGTTCAGGGGCTGCTCCAGTGCCCTCCCCTCCCCGAGATCAGGCTGGTTCCAGACCACGGGCAGGGCATGTGACAGTGGCCAAAACTGAGTCCCCGGGGTTAGGGTCTGCATCACTCCAGGGTCCATGGCCGGGCCTGGCTGTGGCCCCAGGGGGAGGCAGGTACAGGACCCCCGGGGGGAAAGGGGCACTGACCGAGGGGCCAGACAGTAGGAGGCAAGCAGAGGACCCTCACCAGGTCAGAGTCTGCCCATAAATCAGCTCCAGGACATTCCGGGCAATGTCAAACTCCGGCTTCCGCCTCCTCTTCAGCTTCTTCTCGGAGATAATCCTGCCTCCGAGGACCCCGGATCGTTAGATGGGAAAGCCATGCCCAGGGAGGCCAGCCTGAGTCCCCACACCCAGAGGCACCCCGCCCCCAGCCAGGGGACATCCTGGCCGTTCCACAGATAATGCCAAGAAGAGACAGCCACCAGCCTGGGGGACCCCACCAGGTGCTTGGTCACACCAGCCTCATCCTAAGTAGGTTCGGATACACCCGGAGTTAAACAAGCAGTATCAGCTCCAGCACCAAATGATTTTTTCTTTTTTGAAACAGGGTCTGGCTCTGTTGTCCGGGCTGGAGCACAGTGACGCAATCGTGGCTCACTGCAGCCTTGACCTCCTGGGATCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCAGGCCCAGCTAATTTTTATTTATTTTTATTTTTATTTCTTTAGAGACAAGGTCTCACTCTGTTGCCGAGGCTGGTCTCAAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCGGGCCTCCTACTGATTTTTTTAATCTTATTTTTTATTATTATTAAATTCATATATTCTCGAAGAAAACACCAAGAGGAAAAAAACAGCTGAAGTGCCAGAACCCACAGCGGAATACCTGGAACATTTTTTAAATGTTCCTCCGCTGTCTGTTCCCTGCTGTGTGTTTTTCCTTTGTATCCTAGACTGAGGTTGTGTCATATACACGTTACTTTTTTTTTTTTTTTTTTTTTTTTGGCAACACAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGAGGCGCAATCTCAGCTCACTACAACCTCCGCTTCCCAGGTTCAAGCGATTCTCATGCCTCTGCCTCCCGAGTAGCTGGGACTACTGGTGTGCGCCACCACGCCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCATACACATCACTTTGAAACCTGTTTTCCTTTCCAATCTAAAAATGAGTTCGGTTCTATTTCCTGAGTCTTCCTCTGAAGGGTGGAGACACAGGGCCCTGATGGGAAAGGTCCAGGCCTGAGAACCTCCCGGCCACACGTCCCGGCCACTAAGGGGAGAACACTCACCACCCAGTCCGCCCAGGACCCCCTCACCTCCACACCAGTTCCCCAAAAAGCGTGTCCAGCAACATGAGGACGAAGTCCATCACCAGGAACCGGTACAGCTCCTGGCCCACAAAATCCTCCCAGCACTGGCCCTGCAGGACGCCCACCCTGCGGCCCAGCCAGTGGTAGCACAGTGTCCCCAGGATGGCCAGCTTGAGGATGAGGTTCCTGCGGAGGGCGGGGTGCAAAGGCTGAGGGGCGGGTACAGGGGACAGAAGATGCACCCCAGGGCCCCCACCAGGGGCTTGGTCACACCGGCCTCATCCTAAGTAGGTTTGGATACACCCGGAGCTAAACAACCAGTATCAGCTCCAGCACCAAATGATGTTTTCATGTGCGGCCACACACCTGCAGATGGCCACGTACACCTCCAGTACCGGGGAGTCATGCGGCTCCAGGGCGGCCAGGACACGGCACAGGTAGGGGGCCCCCAGGTTGAGGAGGCCAACCACCAGGGGCAGGACCAGCAGCACAGCCTCCTGGCCAGCAGCCTCTGGACTCTGCAGGGGTGCAGGGAGCGGTGTCATGGAAGCCCCCCATCCATGGTGGGAGCGGGCAGCTACAGGGAAGGGCCCGGGGTGGAACTGGCAGGTAGCACCTCCCTCCTCCAAGATCTGGCCCTCCCCAGGCCTCAAGTTCAAACCACACAGGAAGCAGGGAGGGGTACAAGTAGTGGAAAAGAAACCAGAAACCAAAAAATAAAACCGTGAGACAGGACAAGGGGCTGAGAAGTGGGGCTCGGAGGGGGCCCCAGCACGGGGCACAGCGTACGTGGCACCC | TGCGGGAGAGGGGCTGTCGGGCAGGGCCCAGGGCCACAGCCCGGGAGCGGCCAGTCCCCACACGGTGCAGGCCCAGCGAGGGCCATCTCCCCAGGGCCGCCCCCACCTGCGGGACTCACAGCAGCAGGGCTGACACCAGGAAGACAAAGAAGGTGTTTTCCATCAGGTACCGGTGCACCCAGGGCAGCCAGGAGACCCTGGGGCCTGCCGCCTCCAGGTGGCGCACCCACACCCTGCCGGCCTCGTACATGGTGTCCAGGGTCCGGAAGGGGCCGCAGGTGCTCGAGGGCTTCACCCTGGGGAAGATGCCGACCAGGAACCCTCACCCCGAGCAACAGTTCACCCGGCTCCCTCCCAGCCCGTCCTCTGCACCCCTAAGCCTTGGGCCCCCCAGGCACCACCACCCAACCCCCAGATGACACAGAAGGGTCTCCCTCCACCCGCCCCACTCACTGCCAGACGGCGTAGCAGAGGAAGACAGCGGCGCCCAGGAAGGCGGGGAAGCAGAGCAGCGTGAGGAAGACGGTGCTCATGTGTGAGGCCAGCCAGGGCCGGCGCGGCGCCTGGCAGTTGGCCAGAAGGCTGGTCTGTGGGGAAAGGCTGCGCTCTGCCACCATCCTGCTACCCCTCAGCACCCCTCCAAGCCCTGGGGGAGCTCAAGAGGGAAGGGCGACCAGGGCTGTGCGTCCAGGCAGAGCCTGGACCCTGCTCCCTGCAGCCTCCTCATTTACAGAGGAAGACAGAAGCCTGCCGGTCACTTGCACGCAAACGGGTGATGCCAACAGCACCTCCATCTGCTGAAGGTCGCTGCCATGCCAGGCTCTGCACACAACACTGTACACACCACCTCCCTCAGTCCCCACTGGAACATGGTCCCCACTGCAGGGATGAGGAAACAAAAGGCCAGACGAGACAGGAGCCAGGATGGCCAGGTGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGTGGGCGATCACAAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCCATCTCTACTAAAAATACAAAAAAATTAGCTGGGTGTGGTGGCGGGCGCCTGTAGTCCCAGCCACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCTGGGAGGCGGAGCTTGCAGTGAGCCGAGATTGCGCCACTGCACTCCAGCCTGGGCGACAAAGCAAGACTCTGTCTCAAAAAATAAAATAAAATAAAAAGACAGGAGCCAGGATGGGAAGAAAGGTCCCAGTTCTCAGCCACTGGGCATGACCCAGTTGCGGAGAGAGGCCCAGCATCACTTTTCCAGGGACCCAGAGGTCCCAAGGCTTGGTGTCTCCCAGAGCCCTGGCCCTACCCCTGGCCAGGTGCACACAGGTACCTGCTAATGACCTCTGAACCCAGCGATGCTTCCCAGCCTGCCGAAGACAGTGATGCCAAGAGGGGTCAGCCGTCCCTTGGGCGGAGGGACAGGCCAGGGCAGCCCCGAGCCGCCAGCCCCACTCCACTCAGGTGGGGAGGGTTCTAGTGTCCCAGGCTCTGCCCAGCTGAGTCCTGCCCCCACTGCCGGCCACCCTGCCAGCCCAGCCCTCCCCAGGCCTTGGCAGCCTCACCTTCTTGACATAGAAGACGAGCAGCAGCTTGATGATCTGCACGGCGGGGAGGAGGGGCGAGAAGAGCACCCCCAGCCTGGGGAGGGGGTGGCAGTTCAGGGGCTGCTCCAGTGCCCTCCCCTCCCCGAGATCAGGCTGGTTCCAGACCACGGGCAGGGCATGTGACAGTGGCCAAAACTGAGTCCCCGGGGTTAGGGTCTGCATCACTCCAGGGTCCATGGCCGGGCCTGGCTGTGGCCCCAGGGGGAGGCAGGTACAGGACCCCCGGGGGGAAAGGGGCACTGACCGAGGGGCCAGACAGTAGGAGGCAAGCAGAGGACCCTCACCAGGTCAGAGTCTGCCCATAAATCAGCTCCAGGACATTCCGGGCAATGTCAAACTCCGGCTTCCGCCTCCTCTTCAGCTTCTTCTCGGAGATAATCCTGCCCCGAGGACCCCGGATCGTTAGATGGGAAAGCCATGCCCAGGGAGGCCAGCCTGAGTCCCCACACCCAGAGGCACCCCGCCCCCAGCCAGGGGACATCCTGGCCGTTCCACAGATAATGCCAAGAAGAGACAGCCACCAGCCTGGGGGACCCCACCAGGTGCTTGGTCACACCAGCCTCATCCTAAGTAGGTTCGGATACACCCGGAGTTAAACAAGCAGTATCAGCTCCAGCACCAAATGATTTTTTCTTTTTTGAAACAGGGTCTGGCTCTGTTGTCCGGGCTGGAGCACAGTGACGCAATCGTGGCTCACTGCAGCCTTGACCTCCTGGGATCAAGCAGTCCTCCCACCTCAGCCTCCTGAGTAGCTGGGACTACAGGCACACACCACCAGGCCCAGCTAATTTTTATTTATTTTTATTTTTATTTCTTTAGAGACAAGGTCTCACTCTGTTGCCGAGGCTGGTCTCAAACTCCTGGGCTTAAGTGATCCTCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCACACCGGGCCTCCTACTGATTTTTTTAATCTTATTTTTTATTATTATTAAATTCATATATTCTCGAAGAAAACACCAAGAGGAAAAAAACAGCTGAAGTGCCAGAACCCACAGCGGAATACCTGGAACATTTTTTAAATGTTCCTCCGCTGTCTGTTCCCTGCTGTGTGTTTTTCCTTTGTATCCTAGACTGAGGTTGTGTCATATACACGTTACTTTTTTTTTTTTTTTTTTTTTTTTGGCAACACAGTCTTGCTCTGTCGCCCGGGCTGGAGTGCAGAGGCGCAATCTCAGCTCACTACAACCTCCGCTTCCCAGGTTCAAGCGATTCTCATGCCTCTGCCTCCCGAGTAGCTGGGACTACTGGTGTGCGCCACCACGCCCTGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCCATGCTGGCCAGGCTGGTCTCAAACTCCTGACCTCAGGTGATCCACTCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCTGGCCATACACATCACTTTGAAACCTGTTTTCCTTTCCAATCTAAAAATGAGTTCGGTTCTATTTCCTGAGTCTTCCTCTGAAGGGTGGAGACACAGGGCCCTGATGGGAAAGGTCCAGGCCTGAGAACCTCCCGGCCACACGTCCCGGCCACTAAGGGGAGAACACTCACCACCCAGTCCGCCCAGGACCCCCTCACCTCCACACCAGTTCCCCAAAAAGCGTGTCCAGCAACATGAGGACGAAGTCCATCACCAGGAACCGGTACAGCTCCTGGCCCACAAAATCCTCCCAGCACTGGCCCTGCAGGACGCCCACCCTGCGGCCCAGCCAGTGGTAGCACAGTGTCCCCAGGATGGCCAGCTTGAGGATGAGGTTCCTGCGGAGGGCGGGGTGCAAAGGCTGAGGGGCGGGTACAGGGGACAGAAGATGCACCCCAGGGCCCCCACCAGGGGCTTGGTCACACCGGCCTCATCCTAAGTAGGTTTGGATACACCCGGAGCTAAACAACCAGTATCAGCTCCAGCACCAAATGATGTTTTCATGTGCGGCCACACACCTGCAGATGGCCACGTACACCTCCAGTACCGGGGAGTCATGCGGCTCCAGGGCGGCCAGGACACGGCACAGGTAGGGGGCCCCCAGGTTGAGGAGGCCAACCACCAGGGGCAGGACCAGCAGCACAGCCTCCTGGCCAGCAGCCTCTGGACTCTGCAGGGGTGCAGGGAGCGGTGTCATGGAAGCCCCCCATCCATGGTGGGAGCGGGCAGCTACAGGGAAGGGCCCGGGGTGGAACTGGCAGGTAGCACCTCCCTCCTCCAAGATCTGGCCCTCCCCAGGCCTCAAGTTCAAACCACACAGGAAGCAGGGAGGGGTACAAGTAGTGGAAAAGAAACCAGAAACCAAAAAATAAAACCGTGAGACAGGACAAGGGGCTGAGAAGTGGGGCTCGGAGGGGGCCCCAGCACGGGGCACAGCGTACGTGGCACCCN | benign | 284,490 |
Determine if the mutation at chromosome 17, position 78125143 in gene TMC6 (transmembrane channel like 6) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | CCTTATCCATCCCCACTCTTATCTAACCTTCCCCTCTCAGGGCAAGTGCCGCCTCCCCTGGGAAGCAGCCTGACTCCTTCCCCAGTGCTCCCATAACACTGGGGAAACACCACTAAGCCTCATGGATTGTCCCAGCCCATTCAGTGGTCCATCTTCTCCCAGAGACAGCAAGCCCCCCTAGGACATTTACCATCCTGCCCTGAGCTGAGCACAGAGAATGTTTGTGGAATACGTAGATGCATGGGTGGATGGGTGGATGGATGGATGAATAAATGTGTGGGTGGATGGGTGGATGGATGAACGGATGGGTGGATGAATGGGTGGATAGATAAGGAGGTGGATGGATGTGCGAATGGATGGATGCGTGGATGAATGAGTGGGTGGATGGATGAATGGGTGGATGGGTGGGTTAAACTGAGTGGATGGATGGGTGGGTAGATGGATGAATGGGTGGATGGGTGGGTGGATGGGTGAATGGGTGAATGTGTGAATGGATGGATGGGTGGGTGAATGGATGAATGGGTGGATGGGTGGATGGGTGGGTGAACTGATTGGGTGAATGGGTGGGTAGATGGATGGGTGGGTGAATTGAGTGGGTGGATGGGGGGGTGAATTGAGTGGGTAGATAGGTAGGTGGATGGCTGAATGGGTAAATGGGTGGGTGAATTGAGTGGGTGGATGGGTGGGTGGATGGATGAATGGGTGGATGGGTGGGTAGGTAGATGGATGGGTAGATGGGTGGGTAAGTGGATAGTTGGATAGGTGAGTGGATGAGAGCAGACAGGTAGATGGACAGAAGGAAGAAAGGAAGAGGGAAGAATCAATGAATGGGTCGAAAGATGAATGGATGGATGAGTGGAGCTCGGAGCCTGGGTCATGAGGTGGAGGCATTACCTGTACACCAGGGTGATGCAGGTGATAAAGAAGCTCACGCCCACAGTGGAGAGGTAGGCCAGGGGCATGTTGTAGGGCAGGCCACCCACCCTGGGTGTGCACTGGCTGCCATCCAGGGGGCTGCCACACGGCTGGTTCAGCGTGGCGTTACTGTAGTGGCCGTAGTACATGACGGTGTGGGTGAAGCAACCCTGCCACAGGGAGATCCAGCCGAGTCAGGGACTTTCCCCACGCCCCACCCGACCCTCAGGCCTGACAGCCACAGGGGCAGAGCAGGAGGAGGCCAGGCAGGGGCAGTGAGGGAAACAGGGAGGGGCCTTGGCCACAGCAATCTTGGGCCTCCAGCCCCATGGGAACCCCAGCACGATGAGCATCCAGGGTCATTGAGGGGGAGGCGGGGAGCTGGCTGTGGCCACCTGGAGTCACAGCGGGGCAAGGGTTGGGGGCCCCAGGGGAGCTGGGACAAGAAGGGAACACGGTACCAGGGTAGCAGAAGACAGGCACCCCCCGTCCCCCAGTCCTAGGGCTTCCTCACCGCGCCTGTGAGGAGCTCCAGGCCTGTGCAGACGGGGGCAGGGCCCGGCAGGGCGGGTGGGAAGGCGACCTGAGGGCCCATGATGAAGGCCACCAGCAGCAGCAGCAGGAGGGCATTGAAAGCCAGCAGGGTCTTGAGAAAGAGGAAGTAGGAGAGCACGCTGGAGCCGAACTGGCCCCCGATGCGCTTCAGGGCGTAGCGCCACGGCATCAGGGCCTGCAGGGCGGAGAGCAGCGCCAGGCCCAGGCTGTGCAAGGCCTGCGGGCACAGGCAGAGAGGCCCTGAGGGTGAGGCCGGAGGAGGCACTGAGGCCACCCCAGCCCTGCCCAGCCGCCCCAGCCCCAGGGCAGACCAGGGGCCCATACCAGCACGCAGGCATATCTGAGCCGGCCACAGCAGGAGCAGACCCCGCCGCTGCCCGGCTGGCCCCTCCACTTCCCCCTCGGGGTCCTGCTCTTCTCTCTGGGGACAGAGGCAGCCATAGGTGCCTGGACCAATGAGGGGCCTGACTCTCTCCTTCCTGGAGACCGGCCACCCACGGGCTCAGCCCCTTCTCCCCCACCACCTAGCCCAGCTGAGGAAGTGGGTCTGGGGGCGCAGCAGCGGCGGCATGGTCAGGGTCGGGGCTGCTCACCGCAGGCTGCGTTTCTCAGCCAGGCTTAAGGGCATCCCGCGAAGCATGTGGTCCCGCTGTGCCACTGCCAGGCTCTGGAGCTCCTTCACCAGGAGGCTCTGCTTCTCTGCGAGAGGGAGAGGGAGGTCCTGCCCATCCCCAAGTGCCCCTCCCTGCAGCCCGAAGCCGGGACCCTGGTCAGGCCTGTGTGTCCCTGCGGCACCGTCCCGAGACACCTCGGTGCCCTTATTTGAGCTTCAGTCGCCAATCAGCCGTGTGTTTGCTTCAGTCAGCGACAAGCAGGAAGCTCACAGAGCACAGGGGCCTGTTTCCCACGCACGGTCCCCGACTCGGGGCCCAGGGCCACAGCCCTCCAAGCACTCCAAGGCGCTTGTGAGGTAAGACCCCCACTTCCCTGTCCCCGTGGGTCCCTGCAGAGGGACGGGGGGGCCTTCAGGCAGCCTGCTAAGGGATAGGAGAGGGGCCTCTGGCTCTGCAGCACCCCAGCCACCGCCCAGGCCAGGCTGGCCTCTTGCACCCCACCCCAGGCCGGTGTCCGCCACTGGGGCTCCAGTGCCCACTCACTCACCCTCCTCCTCCAGGGCCGTGGGGTCCAGCTCCAGGTCGTACAGGCGGAGGCTGGGCCAGGCGGAGCGGACAAAGTTCCCGAGCAGGGGCCGGCTGCTCCTGCACCGAAGCTGCACCGTGCGGTTGTAGTACTGGGAGATGATGGCACCTCGGCTGCGGCCTATGGAGGCAGCTGGGCAGGGCCGGGCCGGGCAGGGCCAGGCCTCCCTCCCCTCAGGATGGGCTCACCACAGGCCTCTGCGTCCCTCACCCCTTCCCAGGACCCAGGAAAATCCTTTCAACAAAGACTTCAGGCACCACTGCATTCCGAAAGCCTATTTTTACCCCGTGATGACTCTGGAGTCATTTTTGGAGCCCAGCGAGGGCCACATGGGGCTGTGCTGGGCCCCCAGGCAGCAGATGGGATGGGCTAGGAGCCCGCCCTGGGCCTGGCTCTGAGCTACGGGAGCAGCCACTACCCAGGGAGATGCCTGGCAGGAAGCCCAGCCCAGCCCCAGGGACTGGGGTCAACTCGGGGCCGGGGCCGAGGCCGAGGCTGAGGGTCCCACTCACCAATGGTGCGGCTGGGCATGCTGGCCAGGATGCGGAGTGTGGCCGTGCTCTGGGTGCCCTCGGGCCGCCAGAGTGTCTGCTGGCTACTTCCTACAAAGCAAGAAAGACTCACCAGGGGTCCTGGAGATGCCATTGGCCACAGTATCTCCCACCCCATCCCAGGCCTGCAGAGCTGGGAGGCCCGTCCTGAGGGGCTGGGGCACCCAAGTCTTGGTCCACACCACCCAGCATCCAGGCCTGAGCTCACCTGTCACCTCCCGCTCTCTCTGCTGCAGCTCCAGCCCCTCCTGGGCCGTGCACTGGCTCTGCTCCTGGATGAGCTGCTGGAAGGAGTCGTGCACTTCGCTTTCATCATAGGGGCTGGGGCCCTGGCTGCAGAGGGGGTTGGCGGGGGGGTCAGGCTCCAGCCACCTCTCTCCTTCCAGCAGCCCCTGCTCAGGTGACCTCTCCGTGGGGGGTGGAACATTCCAGCCTCCAGCCCCCAGCCCCAGAGCGCTTACCCCTGGTCCCCTGGGGTCTCAGGGACATCGAGGATGAAGGCCAGTGGCTGGGCCATGTCTCTGGCCAATGCCCGCTAGTCTGCAGACCTAGGGTAGCTCAGAGCCTGGGCGCCACCTCCGGAGCCCCCATCTGATGAGACAGGGGCACAGAGCCAGGGGTGGTCTTCAACGCCTGGCAGCTGTCCACACCACCCATTCCTGGGGGAACCACAGGAGGTGCCACTCACAGCCCAGACAGTCCCGCCCACCCCCCTATCACCCCAGGTACATAAATGGTGAGGCACCGAATAAGCCTCATGCCAGAATGGAATGGGGGGCCCCCTCCAGTGTCAGGGGAGGGGAGAGAGGAAGGAAGGGTGTGGGGTCTGCAGTTCCACATCTGTTTCCTCGATGTCGCCAGTCCCTGGGAAATGG | CCTTATCCATCCCCACTCTTATCTAACCTTCCCCTCTCAGGGCAAGTGCCGCCTCCCCTGGGAAGCAGCCTGACTCCTTCCCCAGTGCTCCCATAACACTGGGGAAACACCACTAAGCCTCATGGATTGTCCCAGCCCATTCAGTGGTCCATCTTCTCCCAGAGACAGCAAGCCCCCCTAGGACATTTACCATCCTGCCCTGAGCTGAGCACAGAGAATGTTTGTGGAATACGTAGATGCATGGGTGGATGGGTGGATGGATGGATGAATAAATGTGTGGGTGGATGGGTGGATGGATGAACGGATGGGTGGATGAATGGGTGGATAGATAAGGAGGTGGATGGATGTGCGAATGGATGGATGCGTGGATGAATGAGTGGGTGGATGGATGAATGGGTGGATGGGTGGGTTAAACTGAGTGGATGGATGGGTGGGTAGATGGATGAATGGGTGGATGGGTGGGTGGATGGGTGAATGGGTGAATGTGTGAATGGATGGATGGGTGGGTGAATGGATGAATGGGTGGATGGGTGGATGGGTGGGTGAACTGATTGGGTGAATGGGTGGGTAGATGGATGGGTGGGTGAATTGAGTGGGTGGATGGGGGGGTGAATTGAGTGGGTAGATAGGTAGGTGGATGGCTGAATGGGTAAATGGGTGGGTGAATTGAGTGGGTGGATGGGTGGGTGGATGGATGAATGGGTGGATGGGTGGGTAGGTAGATGGATGGGTAGATGGGTGGGTAAGTGGATAGTTGGATAGGTGAGTGGATGAGAGCAGACAGGTAGATGGACAGAAGGAAGAAAGGAAGAGGGAAGAATCAATGAATGGGTCGAAAGATGAATGGATGGATGAGTGGAGCTCGGAGCCTGGGTCATGAGGTGGAGGCATTACCTGTACACCAGGGTGATGCAGGTGATAAAGAAGCTCACGCCCACAGTGGAGAGGTAGGCCAGGGGCATGTTGTAGGGCAGGCCACCCACCCTGGGTGTGCACTGGCTGCCATCCAGGGGGCTGCCACACGGCTGGTTCAGCGTGGCGTTACTGTAGTGGCCGTAGTACATGACGGTGTGGGTGAAGCAACCCTGCCACAGGGAGATCCAGCCGAGTCAGGGACTTTCCCCACGCCCCACCCGACCCTCAGGCCTGACAGCCACAGGGGCAGAGCAGGAGGAGGCCAGGCAGGGGCAGTGAGGGAAACAGGGAGGGGCCTTGGCCACAGCAATCTTGGGCCTCCAGCCCCATGGGAACCCCAGCACGATGAGCATCCAGGGTCATTGAGGGGGAGGCGGGGAGCTGGCTGTGGCCACCTGGAGTCACAGCGGGGCAAGGGTTGGGGGCCCCAGGGGAGCTGGGACAAGAAGGGAACACGGTACCAGGGTAGCAGAAGACAGGCACCCCCCGTCCCCCAGTCCTAGGGCTTCCTCACCGCGCCTGTGAGGAGCTCCAGGCCTGTGCAGACGGGGGCAGGGCCCGGCAGGGCGGGTGGGAAGGCGACCTGAGGGCCCATGATGAAGGCCACCAGCAGCAGCAGCAGGAGGGCATTGAAAGCCAGCAGGGTCTTGAGAAAGAGGAAGTAGGAGAGCACGCTGGAGCCGAACTGGCCCCCGATGCGCTTCAGGGCGTAGCGCCACGGCATCAGGGCCTGCAGGGCGGAGAGCAGCGCCAGGCCCAGGCTGTGCAAGGCCTGCGGGCACAGGCAGAGAGGCCCTGAGGGTGAGGCCGGAGGAGGCACTGAGGCCACCCCAGCCCTGCCCAGCCGCCCCAGCCCCAGGGCAGACCAGGGGCCCATACCAGCACGCAGGCATATCTGAGCCGGCCACAGCAGGAGCAGACCCCGCCGCTGCCCGGCTGGCCCCTCCACTTCCCCCTCGGGGTCCTGCTCTTCTCTCTGGGGACAGAGGCAGCCATAGGTGCCTGGACCAATGAGGGGCCTGACTCTCTCCTTCCTGGAGACCGGCCACCCACGGGCTCAGCCCCTTCTCCCCCACCACCTAGCCCAGCTGAGGAAGTGGGTCTGGGGGCGCAGCAGCGGCGGCATGGTCAGGGCGGGGCTGCTCACCGCAGGCTGCGTTTCTCAGCCAGGCTTAAGGGCATCCCGCGAAGCATGTGGTCCCGCTGTGCCACTGCCAGGCTCTGGAGCTCCTTCACCAGGAGGCTCTGCTTCTCTGCGAGAGGGAGAGGGAGGTCCTGCCCATCCCCAAGTGCCCCTCCCTGCAGCCCGAAGCCGGGACCCTGGTCAGGCCTGTGTGTCCCTGCGGCACCGTCCCGAGACACCTCGGTGCCCTTATTTGAGCTTCAGTCGCCAATCAGCCGTGTGTTTGCTTCAGTCAGCGACAAGCAGGAAGCTCACAGAGCACAGGGGCCTGTTTCCCACGCACGGTCCCCGACTCGGGGCCCAGGGCCACAGCCCTCCAAGCACTCCAAGGCGCTTGTGAGGTAAGACCCCCACTTCCCTGTCCCCGTGGGTCCCTGCAGAGGGACGGGGGGGCCTTCAGGCAGCCTGCTAAGGGATAGGAGAGGGGCCTCTGGCTCTGCAGCACCCCAGCCACCGCCCAGGCCAGGCTGGCCTCTTGCACCCCACCCCAGGCCGGTGTCCGCCACTGGGGCTCCAGTGCCCACTCACTCACCCTCCTCCTCCAGGGCCGTGGGGTCCAGCTCCAGGTCGTACAGGCGGAGGCTGGGCCAGGCGGAGCGGACAAAGTTCCCGAGCAGGGGCCGGCTGCTCCTGCACCGAAGCTGCACCGTGCGGTTGTAGTACTGGGAGATGATGGCACCTCGGCTGCGGCCTATGGAGGCAGCTGGGCAGGGCCGGGCCGGGCAGGGCCAGGCCTCCCTCCCCTCAGGATGGGCTCACCACAGGCCTCTGCGTCCCTCACCCCTTCCCAGGACCCAGGAAAATCCTTTCAACAAAGACTTCAGGCACCACTGCATTCCGAAAGCCTATTTTTACCCCGTGATGACTCTGGAGTCATTTTTGGAGCCCAGCGAGGGCCACATGGGGCTGTGCTGGGCCCCCAGGCAGCAGATGGGATGGGCTAGGAGCCCGCCCTGGGCCTGGCTCTGAGCTACGGGAGCAGCCACTACCCAGGGAGATGCCTGGCAGGAAGCCCAGCCCAGCCCCAGGGACTGGGGTCAACTCGGGGCCGGGGCCGAGGCCGAGGCTGAGGGTCCCACTCACCAATGGTGCGGCTGGGCATGCTGGCCAGGATGCGGAGTGTGGCCGTGCTCTGGGTGCCCTCGGGCCGCCAGAGTGTCTGCTGGCTACTTCCTACAAAGCAAGAAAGACTCACCAGGGGTCCTGGAGATGCCATTGGCCACAGTATCTCCCACCCCATCCCAGGCCTGCAGAGCTGGGAGGCCCGTCCTGAGGGGCTGGGGCACCCAAGTCTTGGTCCACACCACCCAGCATCCAGGCCTGAGCTCACCTGTCACCTCCCGCTCTCTCTGCTGCAGCTCCAGCCCCTCCTGGGCCGTGCACTGGCTCTGCTCCTGGATGAGCTGCTGGAAGGAGTCGTGCACTTCGCTTTCATCATAGGGGCTGGGGCCCTGGCTGCAGAGGGGGTTGGCGGGGGGGTCAGGCTCCAGCCACCTCTCTCCTTCCAGCAGCCCCTGCTCAGGTGACCTCTCCGTGGGGGGTGGAACATTCCAGCCTCCAGCCCCCAGCCCCAGAGCGCTTACCCCTGGTCCCCTGGGGTCTCAGGGACATCGAGGATGAAGGCCAGTGGCTGGGCCATGTCTCTGGCCAATGCCCGCTAGTCTGCAGACCTAGGGTAGCTCAGAGCCTGGGCGCCACCTCCGGAGCCCCCATCTGATGAGACAGGGGCACAGAGCCAGGGGTGGTCTTCAACGCCTGGCAGCTGTCCACACCACCCATTCCTGGGGGAACCACAGGAGGTGCCACTCACAGCCCAGACAGTCCCGCCCACCCCCCTATCACCCCAGGTACATAAATGGTGAGGCACCGAATAAGCCTCATGCCAGAATGGAATGGGGGGCCCCCTCCAGTGTCAGGGGAGGGGAGAGAGGAAGGAAGGGTGTGGGGTCTGCAGTTCCACATCTGTTTCCTCGATGTCGCCAGTCCCTGGGAAATGGN | benign | 284,526 |
Clinical significance of chromosome 17, position 78134453, gene TMC8 (transmembrane channel like 8): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Epidermodysplasia_verruciformis', 'Epidermodysplasia_verruciformis,_susceptibility_to,_2'] | CCTGCTGCTACTCAACCTGCTGAGCCTGCTGCTCACCGCAAGCTTCGTGCTGCTGCCCCTGGTCTGGCTCCGCCCCCCTGACCCAGGCCCCACCCTGAACTTGAGTGAGTGTGAGGCCCACCAGGGGAAGTGCTCCGGTGCCCACCTGCGCCATGGGGGGGCTGGCCCAGGGCCCAGAGCGTGGCGACAACGCTGGGCGTGGTCCTGCCGTGCAGGCCCCGGGGCTCTCTCTCCCTGACCTCGCCTTGTGTGGGGCACGCCTTTGGCACATCCTCAGCCCCCTGCCCAGGCCTCCCCAGGGTTGGGGGTTATAGAGCAGTAGCCGCAGAGCCTCACCTATGCCTTGGGGATCCCTCTCTATTGACCCCCTTCCTCCTCAACAGCCCTCCAGTGCCCTGGTAGCCGCCAGTCCCCGCCTGGCGTTTTGAGGTTCCACAATCAACTTTGGCATGTTTTGACTGGCAGGGTGAGTGAGGTCTGTCCCGGCTATGGTCCAGAGTCTGGGAGACCCAGGGAACTGGCTTCAGGGGACACAAGTCTAAGAGGACCTCTGCTCCTCCAGGGACATTTCGGCTCCTCAGGGGATGGTCTTACCTAGACAGACTGGCCTGGCCGGTGGTGGGGTTAGAGAGAGGCTGAGGCCACTGTGCCCAACATAGACTCATGGACACATGCCCGTGGTCCTCAGAGCCCAGCTGGTGTAGGCGGTGCCAGGGACAAAGGGGGAAAAGTGCCCCGGCCTCTGGGAGAAGCACTTCCCCACCCTCATCCTGGGAAGCCATCGAGTGGTCACCAATGGGGTTCCTGGGTTCCAGTCGTGGCTCTATTTCTCAAAGCCCTGTGACCGTGGGCACGTTGCCGAACCTCTGTGGGCCCTTGTAAGACGGGACACTCCCTACCTGATGGGGGGATTGCACGGGGGCTAACAAGATCATATATGGAAAGCACTTGAGCAGAGCCTGGTGCTCACCCGGGCTGGGTATCTTCGTCGCTGTCCCCAGGCCTTCACCAACACCTATCTCTTCTACGGTGCGTACCGAGTGGGGCCGGAGAGCAGCTCCGTGTACAGCATCCGCCTGGCCTACCTCCTCAGCCCGCTGGCCTGCCTGCTCCTCTGCTTCTGTGGGACTCTGCGGCGGTGAGAGCGAGGTCCACACCTTCACCCCTTCCCCAGGGAATCTTCCCTGATCACCCCTTCCTTGGCAGGGTACCCTCCCATTGGCAGGAAGGCCCATGGCCCGGCACAGCAGGCTCCTGGGTGCTTCCTCAGCCCAGGCTCTGGCCGCAAACCTTAGGAACAGGGCCACCGCCCCCTACCCCGACTCCTCACTCACCAGGACCTGCACCTGGGGCTGCAGGGGCCTTCCCAGACCCAGAGCCGAGCCAAGGCTGAGGCTGGATGGTAGAGGTGCCCCTCCTCCAGCAGCCCCTGGTCTCCTGCCCCGCAGGATGGTGAAGGGGCTGCCGCAGAAGACTCTGCTGGGTCAGGGCTATCAGGCGCCTCTCAGCGCCAAGGTCTTCTCCTCATGGGACTTCTGCATCCGGGTGCAGGAAGCAGCCACCATCAAGAAGCATGAGATCAGCAACGAGTTCAAGGTGTGTGCACGAGTGAGTGCCTGAGATCCACAAGCTCCAGGTATATGGGAGCGAGTGCGTGAGAGCCACGTGTTCCAGGTGTGTGCGAGCAAGTGCGACCGTGCCAGTGTGTGTGAGCGTGTGTGGGAGGGAGCCTGTGGGAGCGTGATGGAGAGCGTGTGAATGTGTGTGCATGTGTGGCCGAGTGTGAGGGCACATGTGACTGAATGGGTGATGGCGAGCACGCCTGTGAATGTGTGAATCTGAGTGTCTATGGGAGCATGACAGTGTGAGAGTTTGTGACTGTGTATGTGAGCGTGAATGGTTGTGACTGTGTGTGAGAGCGTTTCCTGCACCCTTTCCTCCCATGCCCACCCCGCCTGCAGCTGCCTCTGTCCCCACCCTTCCGGGCAGGTGGAGCTGGAGGAGGGCCGTCGCTTCCAGCTGATGCAGCAGCAGACCCGGGCCCAGACGGCCTGCCGCCTGCTCTCCTACCTGCGGGTCAACGTACTCAACGGGCTCCTGGTGGTTGGGGCCATCAGCGCCATCTTCTGGGCTACCAAGTACTCACAGGACAACAAGGAGGTGTCAGGCAACTGCATTCATTTAATCCTGGCCAGAACTGCGGGGGTGAGACAGGATGATCCCATTTTACAGATGAGGAAACCGAGGCTCAGAGAGGTTCAATCGGTCGTGGCCACAGGTCACGGCCAAGGCAGGCGGGCTCCCACTGGATATTCCCGCCAACTGCCAGGCTGCTGCAGGGAATAGCTTACAGGCGACCCTATTCTGGGCCTGCCCCAGAGTTACACTTTAGGGCACTGTGGGGGGCGGGGAGCAGACAGGGGCCCCCCAGCACGCGGGCTCCCCTGACCTGCCTTTTCCCGCAGGAGTCCCTGTTTCTGCTGCTCCAGTACCTGCCCCCTGGGGTCATCGCCCTGGTCAACTTCCTGGGTCCCCTGCTGTTCACATTTCTGGTCCAGCTGGAGAACTACCCTCCCAACACGGAGGTCAACCTCACTCTGATCTGGTGAGTGCCACCCTTGGTGGGGACAAGTGGGCATGTAACAAGTCTGCATCCTGCTGCTCTCTTTTGGTTGTCACCTGGCACCTGGGGTCCCCAGCTGAGAGGCTTCCCCCTTCACTAGTGGCCCAAGGGAAGGCAGGTACACACCTCACAGCACACGACCTCAGGGCCCCAGGTCTAAGGCTTTCCAATCCCCCACCTCCAAAGGAAGCCGCCAGTCTGGACCAAGCTCCGGCCATTCAGTGGAGCAAGGGACTGTGGCCAGGGGTGCTGGGAATGGGCTTTGCACACAGGAAAACCAGCAACACGGGACATGCAGAGCTTCTACATGCCGAGGGTTTACTCCCCTTACCTGGACAACCCTCACGTGACCCGTGAAGTCCAGACCATCCTCATCCCCCTTGAGGGATGAGGAAACTGAGGTTCACATGAGTGAAGCGCCCAGCCAAAGTCAAGCTCATCGTGCCTGCCAGGTGCAAGTTCAAAAGCAAGCCCTCGACCTCCTGGGCTCAAGCGATCCTCCCGCCGGAGCAGCTGGGACTACCACTCCCAGGTTCTGCCATCTTCTGTCTCAGCACTTAGGTCCTGTCTAGACCCCCTACTTCTCCACCCCTCATCCAGCTGCAGAAATTCTTGTGTAAAGCCCACCTGAGCTCCCACTGGCTTCTCTCCCTCACGCCACCCTCAGTCACCACTTGCCCTAACTGCTTTTCCCTCTGCTTCCTCAAAGTCAGCTGTGTTTGGTTTGCTTTGAAACTTTATTTTTTGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATCAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACCCGGGAAGCTGAGGCAGGAGAATCACTCGAACCCAGGAGACAGATGTTGCAGTGAGCAGAGATTGCGCCACTACACTCCAGCCTGGGTGACAGAGTGTGACTTCATCTCAAAAAAGAAAACAAAACAAAAAAAGCTCTCACCTACCCCTAGCTCCCTCAACAGGAGAACCACTGTTCCCAGCCACTCTGTAGCCCCATATCAGCAGTGGGAATGTTCACCCTTAGAGATAACACGCAACCAGGCACAGTGACTCACGCCTGTAAAGGCCAACACTTTGGAAGGCCAAGATGGGAGAATCACTTGATCCCAGGAGTTTGAGACCGGCCTGGGCAACATGGCAAGACCCCGTCTCTACAAAAAATACAAAAAAATTAACTGGGCATGATGAAAGACTAGGACACACAGTCCTAGCTACTAGAGAAGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGGTCAAGGCTACAGGGAGCTGTGATCGCGTCACTGCACTCCAGCCTAGGCAATGGAGTGAGACCCTATCTCAAAAAAAAAAAGCAAAAACAGATAACATGCA | CCTGCTGCTACTCAACCTGCTGAGCCTGCTGCTCACCGCAAGCTTCGTGCTGCTGCCCCTGGTCTGGCTCCGCCCCCCTGACCCAGGCCCCACCCTGAACTTGAGTGAGTGTGAGGCCCACCAGGGGAAGTGCTCCGGTGCCCACCTGCGCCATGGGGGGGCTGGCCCAGGGCCCAGAGCGTGGCGACAACGCTGGGCGTGGTCCTGCCGTGCAGGCCCCGGGGCTCTCTCTCCCTGACCTCGCCTTGTGTGGGGCACGCCTTTGGCACATCCTCAGCCCCCTGCCCAGGCCTCCCCAGGGTTGGGGGTTATAGAGCAGTAGCCGCAGAGCCTCACCTATGCCTTGGGGATCCCTCTCTATTGACCCCCTTCCTCCTCAACAGCCCTCCAGTGCCCTGGTAGCCGCCAGTCCCCGCCTGGCGTTTTGAGGTTCCACAATCAACTTTGGCATGTTTTGACTGGCAGGGTGAGTGAGGTCTGTCCCGGCTATGGTCCAGAGTCTGGGAGACCCAGGGAACTGGCTTCAGGGGACACAAGTCTAAGAGGACCTCTGCTCCTCCAGGGACATTTCGGCTCCTCAGGGGATGGTCTTACCTAGACAGACTGGCCTGGCCGGTGGTGGGGTTAGAGAGAGGCTGAGGCCACTGTGCCCAACATAGACTCATGGACACATGCCCGTGGTCCTCAGAGCCCAGCTGGTGTAGGCGGTGCCAGGGACAAAGGGGGAAAAGTGCCCCGGCCTCTGGGAGAAGCACTTCCCCACCCTCATCCTGGGAAGCCATCGAGTGGTCACCAATGGGGTTCCTGGGTTCCAGTCGTGGCTCTATTTCTCAAAGCCCTGTGACCGTGGGCACGTTGCCGAACCTCTGTGGGCCCTTGTAAGACGGGACACTCCCTACCTGATGGGGGGATTGCACGGGGGCTAACAAGATCATATATGGAAAGCACTTGAGCAGAGCCTGGTGCTCACCCGGGCTGGGTATCTTCGTCGCTGTCCCCAGGCCTTCACCAACACCTATCTCTTCTACGGTGCGTACCGAGTGGGGCCGGAGAGCAGCTCCGTGTACAGCATCCGCCTGGCCTACCTCCTCAGCCCGCTGGCCTGCCTGCTCCTCTGCTTCTGTGGGACTCTGCGGCGGTGAGAGCGAGGTCCACACCTTCACCCCTTCCCCAGGGAATCTTCCCTGATCACCCCTTCCTTGGCAGGGTACCCTCCCATTGGCAGGAAGGCCCATGGCCCGGCACAGCAGGCTCCTGGGTGCTTCCTCAGCCCAGGCTCTGGCCGCAAACCTTAGGAACAGGGCCACCGCCCCCTACCCCGACTCCTCACTCACCAGGACCTGCACCTGGGGCTGCAGGGGCCTTCCCAGACCCAGAGCCGAGCCAAGGCTGAGGCTGGATGGTAGAGGTGCCCCTCCTCCAGCAGCCCCTGGTCTCCTGCCCCGCAGGATGGTGAAGGGGCTGCCGCAGAAGACTCTGCTGGGTCAGGGCTATCAGGCGCCTCTCAGCGCCAAGGTCTTCTCCTCATGGGACTTCTGCATCCGGGTGCAGGAAGCAGCCACCATCAAGAAGCATGAGATCAGCAACGAGTTCAAGGTGTGTGCACGAGTGAGTGCCTGAGATCCACAAGCTCCAGGTATATGGGAGCGAGTGCGTGAGAGCCACGTGTTCCAGGTGTGTGCGAGCAAGTGCGACCGTGCCAGTGTGTGTGAGCGTGTGTGGGAGGGAGCCTGTGGGAGCGTGATGGAGAGCGTGTGAATGTGTGTGCATGTGTGGCCGAGTGTGAGGGCACATGTGACTGAATGGGTGATGGCGAGCACGCCTGTGAATGTGTGAATCTGAGTGTCTATGGGAGCATGACAGTGTGAGAGTTTGTGACTGTGTATGTGAGCGTGAATGGTTGTGACTGTGTGTGAGAGCGTTTCCTGCACCCTTTCCTCCCATGCCCACCCCGCCTGCAGCTGCCTCTGTCCCCACCCTTCCGGGCAGGTGGAGCTGGAGGAGGGCCGTCGCTTCCAGCTGATGCAGCAGCAGACCCGGGCCCAGACGGCCTGCTCTCCTACCTGCGGGTCAACGTACTCAACGGGCTCCTGGTGGTTGGGGCCATCAGCGCCATCTTCTGGGCTACCAAGTACTCACAGGACAACAAGGAGGTGTCAGGCAACTGCATTCATTTAATCCTGGCCAGAACTGCGGGGGTGAGACAGGATGATCCCATTTTACAGATGAGGAAACCGAGGCTCAGAGAGGTTCAATCGGTCGTGGCCACAGGTCACGGCCAAGGCAGGCGGGCTCCCACTGGATATTCCCGCCAACTGCCAGGCTGCTGCAGGGAATAGCTTACAGGCGACCCTATTCTGGGCCTGCCCCAGAGTTACACTTTAGGGCACTGTGGGGGGCGGGGAGCAGACAGGGGCCCCCCAGCACGCGGGCTCCCCTGACCTGCCTTTTCCCGCAGGAGTCCCTGTTTCTGCTGCTCCAGTACCTGCCCCCTGGGGTCATCGCCCTGGTCAACTTCCTGGGTCCCCTGCTGTTCACATTTCTGGTCCAGCTGGAGAACTACCCTCCCAACACGGAGGTCAACCTCACTCTGATCTGGTGAGTGCCACCCTTGGTGGGGACAAGTGGGCATGTAACAAGTCTGCATCCTGCTGCTCTCTTTTGGTTGTCACCTGGCACCTGGGGTCCCCAGCTGAGAGGCTTCCCCCTTCACTAGTGGCCCAAGGGAAGGCAGGTACACACCTCACAGCACACGACCTCAGGGCCCCAGGTCTAAGGCTTTCCAATCCCCCACCTCCAAAGGAAGCCGCCAGTCTGGACCAAGCTCCGGCCATTCAGTGGAGCAAGGGACTGTGGCCAGGGGTGCTGGGAATGGGCTTTGCACACAGGAAAACCAGCAACACGGGACATGCAGAGCTTCTACATGCCGAGGGTTTACTCCCCTTACCTGGACAACCCTCACGTGACCCGTGAAGTCCAGACCATCCTCATCCCCCTTGAGGGATGAGGAAACTGAGGTTCACATGAGTGAAGCGCCCAGCCAAAGTCAAGCTCATCGTGCCTGCCAGGTGCAAGTTCAAAAGCAAGCCCTCGACCTCCTGGGCTCAAGCGATCCTCCCGCCGGAGCAGCTGGGACTACCACTCCCAGGTTCTGCCATCTTCTGTCTCAGCACTTAGGTCCTGTCTAGACCCCCTACTTCTCCACCCCTCATCCAGCTGCAGAAATTCTTGTGTAAAGCCCACCTGAGCTCCCACTGGCTTCTCTCCCTCACGCCACCCTCAGTCACCACTTGCCCTAACTGCTTTTCCCTCTGCTTCCTCAAAGTCAGCTGTGTTTGGTTTGCTTTGAAACTTTATTTTTTGAGGCCGGGCATGGTGGCTCACGCCTGTAATCCCAGAACTTTGGGAGGCCAAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAACACAAAAATCAGCCAGGTGTGGTGGTGCACACCTGTAATCCCAGCTACCCGGGAAGCTGAGGCAGGAGAATCACTCGAACCCAGGAGACAGATGTTGCAGTGAGCAGAGATTGCGCCACTACACTCCAGCCTGGGTGACAGAGTGTGACTTCATCTCAAAAAAGAAAACAAAACAAAAAAAGCTCTCACCTACCCCTAGCTCCCTCAACAGGAGAACCACTGTTCCCAGCCACTCTGTAGCCCCATATCAGCAGTGGGAATGTTCACCCTTAGAGATAACACGCAACCAGGCACAGTGACTCACGCCTGTAAAGGCCAACACTTTGGAAGGCCAAGATGGGAGAATCACTTGATCCCAGGAGTTTGAGACCGGCCTGGGCAACATGGCAAGACCCCGTCTCTACAAAAAATACAAAAAAATTAACTGGGCATGATGAAAGACTAGGACACACAGTCCTAGCTACTAGAGAAGCTGAGGTGGGAGGATCACTTAAGCCCAGGAGGTCAAGGCTACAGGGAGCTGTGATCGCGTCACTGCACTCCAGCCTAGGCAATGGAGTGAGACCCTATCTCAAAAAAAAAAAGCAAAAACAGATAACATGCANNNNNNN | pathogenic | 284,561 |
Clinical classification of chromosome 17, position 78485764, gene DNAH17: benign or pathogenic? Disease(s) if pathogenic? | benign | GCCTGCCTTTCTCGGCATGAGGCCAGGCTTCATGAACGAGCAGACTAGTTTCTAGGCTCTTTTGGCCTGAGCTACTTGCTTATTTTAAGAGACAACTATGGCTGGGCACGGTGGCTCACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGCCAACATGGCGAAACCCCTTCTCTACTAAAAGTACAAAAATTAGCCGGCGTGGTGGTGGGCACCTGTATTACCAGCTACTCAGGAGGCTGAGGAAGGAGAATTCCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAGATCGAGCCATTGCACTCCAGCCTGAGAGACAGAGCGAGATTTCTCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAACTGAACTGAATGTTCTCATCTTTCCAAACTGCAAACCTAAACGTGCCACCTTTGGTTTCTCGGTGCCGTTAGGAGAAAATCTGCACTCTGTCCCGAGGCCCTGGGATTCTGGCTGCAGCTGCCCTGGGCACCCTCTGCCTCTGGCTCTCACATCCTTGCCACACCGGCCTTCCTGGGCTTCTTCACGTGTGGCAGGGCATTTACACGTGGCAATCTCTCCACCCAGAATGCTCTCCCTCTAAGGTCCCACAGCCAGCAGGACACTGCTGCCAGCTTCCAGCTGTGCACCATCTCCCCAGGGGCATCTCTCTGCTGGGGCTCCCAGCTGGGAGGCTCCTCTGTGACTGCACTGGGGGTTTTCCTCAGGGCTCTTCCTTTACCGGGTAATGTGCTTCTTCCTCTCCCGGCGGGACAGACACCTCGGTGGAAGGGGGGAAGGAGGATCCCCCCCTCCGCGGGGGCTCTAGGCCACTGCTGCATGTTTGTGAAATGGGTGATGGACGAAACTGATAGAACCTCTCCCCTACCCTGGCCCTACCTCAATGCCTTGTGGCCCCACAAACTTGGGGGCCCAGCTACGACCCGTGTCTCCCTACCCACGTTGCAGCACCCCCCCCACCGCCCCACACCAGTCCTGCCCTACTGCCCTGGGGCTCCGCCTCTTCCTGCGCCCCGCCCTGGCCCCGCCCTCACCGCCCCGGGGCCACGCCTTCCCCTCCGGCCCCGCCCCGTCTAACCAGTGCCGGTGGTCCATGTGCTGCCGGATGAGGGTGTGCGGGGCCACCGTCCCATACTTGTCCACCTCGGGCATGTTCATGTCGTCGATGAAGTAGACGAGCTTCTTAGTGCCTGGCGGCCCGTAGTTCCTCCCCGATTTCTTCTCCAGCGGCTTCTCCAGCACCCCTAGAGAGGGCAGAGGGTCAGCTGCCCGCCTGCGCCTCCTGAGCCAGAGCCTGTTAGGTAGGGAGGGGCGCTACCTGCTTCCCCGGAGGACAGAAGGTGGGACCTGGCTGGGATCCAAGTTTACCAAAGGTACCTGCCCTGGGAGTGGCCCTTGAGGGGGCACCGGGTACAGCCCCAGGAATAAACAGAGCGATCAGAGGCGAGGGTGGCAGGAACCTTGCTCTCCGTCACCTTTGGGTCGCCTTAGATTGGCTGAGACACTCCCGGGGGACCTGCTGCCTCGACTGGCCATCAAAACCCCATCACCATGCCCACAAGGGAGCACCAGAAAGAGGGGTCCCGGCTGCTCCTCCTCTGTCTCCGACTCAGGAAGGAAAGGCCAGCGGGTGGGGCATGGGAAGTGAGGAGGTGCAAAGTGGCTAGTGAGTGCCTGGGCCTGCAGTGAGAGGGGACAGGAGGGAACGGGGACTGGCGGGGGGCAGCCGGGTAGGCAGGGCGTGGCCGGACCAGCCTCACCCTGCAGCATGGCTGAGGTCGTGTAGAAGTTGAAGGGCACAGCCTGCACCAGGTAGTTGTCCGTGTTCAGGCTTTCCAGCTTGTCCCCCATCAGCACCGACTTGCCCGTCCCCGCGTTCCCCACCAGCATCACCGGCCAGGACTTCTCCATGAGCAGGTCCATGAAGTAGCGGATGCGGATGGTTTCCGTGGTGTGGACCAAAGAGGCCTGGGGCAGGGGAGGGAAGGGGAGGGAGCTGTGATTCTCAGACACTTCTGCCTCTCGTGGGTGTGCAGGCCATGTTCTACCGAACAGGTCCTAATGTTGAAAATCGGTTGTGTTTGGACATTCCGTGCAGGCGTGTGGAGGGTACTGCACCGATTCCTGCCTCTAAATCACCAGTCGGTGGCCCTGCTTTGGGGACAGTTACCTGCAGTGGGACATCGGGATCCAGCTCAAAGGAGGGCACTTTATCTGTCCAGGGCAGGAACTTTTTTGTGTCAGGATCAATGTAGTAGTCAAAAATCGTTCCCTGCGAGGGGAACTTGATAGTCTTGAATTCGTTGATCCACCATTTACTGAACTCCACTCGATAATCCACAAGCTGTTGAGACACAGAAGTAAAAATCAGGGCCCAGCTAAGCAGGATGCTGAGAGACCCTGTGTGGGTGGCCGGGCCCCCCAGGTGCATCACCTGGTCCTGGAACATGGCGCCACCGAAGGCCCAGAAGCAGGTGAACACGAAGTACAGCTCGTACAGCTCCCTGGGGGAGTCGGGGGGCACGGTCTTCTCCGTGAGCAGGCACTCCAGCAGGTACAGAATCGTTTGGATCACCGTGATCTCCGGCACTGGCGTGATCTTCTTGAACCCAAAGCGCAACTTGTCCAGGCACGTGGGCAGGTACTTGTCAAAGAGGATCATCAGGTTGGCCTTCTCCGACTGCACCTTGCGCCTCTCGATCCAGCTGCTCACCACCCTGGGGGTGACAGGAGGCGCCGATGACACAGCCGCTGCTCTGGGTCTGCCAGTGTCCCTGCCTTGGTAAACGCCCCTCCCTACCTCCACCCAATTCTGCTGGGGCTGCCCTCAGGGTCACCATGCCTGCATGGCAATGGGTCCAAACGAGGGTGCCAGAGGGGCCAGTTGCAGGCCCTGAAAGGGTCGGAGGAGGATGCCAGGGTCGTGGGGGCTGTGCCCTCTCTGGGGTTGCTAGCTATGGGGGTGCTGTAGGTCTAGAACAGTTGGAAGCCATTCTTGCTACCACACGGGAAGCACATACCAAGGGCTGGTGGATGGGGCAGAACAGAAAAGGAGAAAGATCTCATGATGTCATGTGGGGGGCACGAAGGTGGGGACAGTAAGGGAGCAGAAAGGAGAGACAAGGATAGGAGCAGGGACATTTCATTACATCATCTGGACTCCTGAATCCAGCCATGCCTGAAGCACCCCTTGGTGCTTTTTTTTTTTTTTTTTTTTTAAGCTTCAGTTAGTTTGAGTTGAATTTGCCATGTTCAGTGTAAGAGTACAAATCAATACAACCAGCAATCCTTGAAGAGCCGTGCCAGACTGTTGGCCACAGACATCTCTGGGTGGCTCGTGTGGAGGTGGCCCACCACGGCGGTGAGGGGTGTGGACTCTGGGGCCTGACTGCCCAGGCTTGAGTCAGCTCTACCATGGCCAGCTGCTGCTTTAGGCAGGTTACTGCACATGCCTGAGTCCCTGGTTTCTCATCTGTAAACAGGGGTGATGTTTCCATGACCCTCATTTCCAAGGACTACATGGGCTGATATTTTTAAAGCTCAGAGAAGGGGGCCTGGTCCAGGGTAAGTGTTGCCAAATCAGCATCTGCTGAAAGCATCACTAGTGCCTGGCCCCCTCGAGTGCCAGTGAGCTCAGCACGTGCATCATTTCCAGGATGCCCAGGGCCTAAGCAGGAAGCTCCTGTTAACACACACAGCCAGCCTGCCCTGCGCTGACCGGCAGACGTGCCTCTTTAGACAGAGACTCATTTTTTTTCTTCTTCTGAGATGGAGTCTTGCTCTGTAGTGCAGGGGTGCGATCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTTTCGGCCTTCCAAGTAGCTGGGATCACAGGCGTGCACCATCACACCTGGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTCGCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGATGATCTGCCCGCCTCAGCTTCCCAAAGTGCTGCGATTACAGACATGAGGC | GCCTGCCTTTCTCGGCATGAGGCCAGGCTTCATGAACGAGCAGACTAGTTTCTAGGCTCTTTTGGCCTGAGCTACTTGCTTATTTTAAGAGACAACTATGGCTGGGCACGGTGGCTCACACCTCTAATCCCAGCACTTTGTGAGGCCAAGGCGGGCGGATCACCTGAGGTCAGGAGTTCGAGAACAGCCTGGCCAACATGGCGAAACCCCTTCTCTACTAAAAGTACAAAAATTAGCCGGCGTGGTGGTGGGCACCTGTATTACCAGCTACTCAGGAGGCTGAGGAAGGAGAATTCCTTGAACCCAGGAGGCGGAGGTTGCAGTAAGCCAAGATCGAGCCATTGCACTCCAGCCTGAGAGACAGAGCGAGATTTCTCCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAAAGACAACTGAACTGAATGTTCTCATCTTTCCAAACTGCAAACCTAAACGTGCCACCTTTGGTTTCTCGGTGCCGTTAGGAGAAAATCTGCACTCTGTCCCGAGGCCCTGGGATTCTGGCTGCAGCTGCCCTGGGCACCCTCTGCCTCTGGCTCTCACATCCTTGCCACACCGGCCTTCCTGGGCTTCTTCACGTGTGGCAGGGCATTTACACGTGGCAATCTCTCCACCCAGAATGCTCTCCCTCTAAGGTCCCACAGCCAGCAGGACACTGCTGCCAGCTTCCAGCTGTGCACCATCTCCCCAGGGGCATCTCTCTGCTGGGGCTCCCAGCTGGGAGGCTCCTCTGTGACTGCACTGGGGGTTTTCCTCAGGGCTCTTCCTTTACCGGGTAATGTGCTTCTTCCTCTCCCGGCGGGACAGACACCTCGGTGGAAGGGGGGAAGGAGGATCCCCCCCTCCGCGGGGGCTCTAGGCCACTGCTGCATGTTTGTGAAATGGGTGATGGACGAAACTGATAGAACCTCTCCCCTACCCTGGCCCTACCTCAATGCCTTGTGGCCCCACAAACTTGGGGGCCCAGCTACGACCCGTGTCTCCCTACCCACGTTGCAGCACCCCCCCCACCGCCCCACACCAGTCCTGCCCTACTGCCCTGGGGCTCCGCCTCTTCCTGCGCCCCGCCCTGGCCCCGCCCTCACCGCCCCGGGGCCACGCCTTCCCCTCCGGCCCCGCCCCGTCTAACCAGTGCCGGTGGTCCATGTGCTGCCGGATGAGGGTGTGCGGGGCCACCGTCCCATACTTGTCCACCTCGGGCATGTTCATGTCGTCGATGAAGTAGACGAGCTTCTTAGTGCCTGGCGGCCCGTAGTTCCTCCCCGATTTCTTCTCCAGCGGCTTCTCCAGCACCCCTAGAGAGGGCAGAGGGTCAGCTGCCCGCCTGCGCCTCCTGAGCCAGAGCCTGTTAGGTAGGGAGGGGCGCTACCTGCTTCCCCGGAGGACAGAAGGTGGGACCTGGCTGGGATCCAAGTTTACCAAAGGTACCTGCCCTGGGAGTGGCCCTTGAGGGGGCACCGGGTACAGCCCCAGGAATAAACAGAGCGATCAGAGGCGAGGGTGGCAGGAACCTTGCTCTCCGTCACCTTTGGGTCGCCTTAGATTGGCTGAGACACTCCCGGGGGACCTGCTGCCTCGACTGGCCATCAAAACCCCATCACCATGCCCACAAGGGAGCACCAGAAAGAGGGGTCCCGGCTGCTCCTCCTCTGTCTCCGACTCAGGAAGGAAAGGCCAGCGGGTGGGGCATGGGAAGTGAGGAGGTGCAAAGTGGCTAGTGAGTGCCTGGGCCTGCAGTGAGAGGGGACAGGAGGGAACGGGGACTGGCGGGGGGCAGCCGGGTAGGCAGGGCGTGGCCGGACCAGCCTCACCCTGCAGCATGGCTGAGGTCGTGTAGAAGTTGAAGGGCACAGCCTGCACCAGGTAGTTGTCCGTGTTCAGGCTTTCCAGCTTGTCCCCCATCAGCACCGACTTGCCCGTCCCCGCGTTCCCCACCAGCATCACCGGCCAGGACTTCTCCATGAGCAGGTCCATGAAGTAGCGGATGCGGATGGTTTCCGTGGTGTGGACCAAAGAGGCCTGGGGCAGGGGAGGGAAGGGGAGGGAAGGGGAGGGAGCTGTGATTCTCAGACACTTCTGCCTCTCGTGGGTGTGCAGGCCATGTTCTACCGAACAGGTCCTAATGTTGAAAATCGGTTGTGTTTGGACATTCCGTGCAGGCGTGTGGAGGGTACTGCACCGATTCCTGCCTCTAAATCACCAGTCGGTGGCCCTGCTTTGGGGACAGTTACCTGCAGTGGGACATCGGGATCCAGCTCAAAGGAGGGCACTTTATCTGTCCAGGGCAGGAACTTTTTTGTGTCAGGATCAATGTAGTAGTCAAAAATCGTTCCCTGCGAGGGGAACTTGATAGTCTTGAATTCGTTGATCCACCATTTACTGAACTCCACTCGATAATCCACAAGCTGTTGAGACACAGAAGTAAAAATCAGGGCCCAGCTAAGCAGGATGCTGAGAGACCCTGTGTGGGTGGCCGGGCCCCCCAGGTGCATCACCTGGTCCTGGAACATGGCGCCACCGAAGGCCCAGAAGCAGGTGAACACGAAGTACAGCTCGTACAGCTCCCTGGGGGAGTCGGGGGGCACGGTCTTCTCCGTGAGCAGGCACTCCAGCAGGTACAGAATCGTTTGGATCACCGTGATCTCCGGCACTGGCGTGATCTTCTTGAACCCAAAGCGCAACTTGTCCAGGCACGTGGGCAGGTACTTGTCAAAGAGGATCATCAGGTTGGCCTTCTCCGACTGCACCTTGCGCCTCTCGATCCAGCTGCTCACCACCCTGGGGGTGACAGGAGGCGCCGATGACACAGCCGCTGCTCTGGGTCTGCCAGTGTCCCTGCCTTGGTAAACGCCCCTCCCTACCTCCACCCAATTCTGCTGGGGCTGCCCTCAGGGTCACCATGCCTGCATGGCAATGGGTCCAAACGAGGGTGCCAGAGGGGCCAGTTGCAGGCCCTGAAAGGGTCGGAGGAGGATGCCAGGGTCGTGGGGGCTGTGCCCTCTCTGGGGTTGCTAGCTATGGGGGTGCTGTAGGTCTAGAACAGTTGGAAGCCATTCTTGCTACCACACGGGAAGCACATACCAAGGGCTGGTGGATGGGGCAGAACAGAAAAGGAGAAAGATCTCATGATGTCATGTGGGGGGCACGAAGGTGGGGACAGTAAGGGAGCAGAAAGGAGAGACAAGGATAGGAGCAGGGACATTTCATTACATCATCTGGACTCCTGAATCCAGCCATGCCTGAAGCACCCCTTGGTGCTTTTTTTTTTTTTTTTTTTTTAAGCTTCAGTTAGTTTGAGTTGAATTTGCCATGTTCAGTGTAAGAGTACAAATCAATACAACCAGCAATCCTTGAAGAGCCGTGCCAGACTGTTGGCCACAGACATCTCTGGGTGGCTCGTGTGGAGGTGGCCCACCACGGCGGTGAGGGGTGTGGACTCTGGGGCCTGACTGCCCAGGCTTGAGTCAGCTCTACCATGGCCAGCTGCTGCTTTAGGCAGGTTACTGCACATGCCTGAGTCCCTGGTTTCTCATCTGTAAACAGGGGTGATGTTTCCATGACCCTCATTTCCAAGGACTACATGGGCTGATATTTTTAAAGCTCAGAGAAGGGGGCCTGGTCCAGGGTAAGTGTTGCCAAATCAGCATCTGCTGAAAGCATCACTAGTGCCTGGCCCCCTCGAGTGCCAGTGAGCTCAGCACGTGCATCATTTCCAGGATGCCCAGGGCCTAAGCAGGAAGCTCCTGTTAACACACACAGCCAGCCTGCCCTGCGCTGACCGGCAGACGTGCCTCTTTAGACAGAGACTCATTTTTTTTCTTCTTCTGAGATGGAGTCTTGCTCTGTAGTGCAGGGGTGCGATCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTCAAGCAATTCTCCTGTTTCGGCCTTCCAAGTAGCTGGGATCACAGGCGTGCACCATCACACCTGGCTAATTTTCATATTTTTAGTAGAGACAGGGTTTCGCCACGTTGGCCAGGCTGGTCTTGAACTCCTGACCTTAGATGATCTGCCCGCCTCAGCTTCCCAAAGTGCTGCGATTACA | benign | 284,687 |
Regarding the variant at chromosome 17 and position 78993849, affecting gene CANT1 (calcium activated nucleotidase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['CANT1-related_disorder', 'Desbuquois_dysplasia_1'] | AGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGC | AGAGAGGGGAAGAAAAAAGGTGAGCTTTAAAGTAATCGCAAATCACTGCCTATGCGAAGAGGCTGCTTCCGGGCACCTGGGCTGTGACTCAGGTGCTGACATGAATACATCAGCAAGGTCTCAATTCAGCCACAGTCCCAAGTCCCCCAACCTTCCTGATTGCATCTCTATTTTAAATGACCCAGCCTGGACATCAAGGACAATGATCTAGGAGGCGGGTCAAGGAGACAGCCAGGCAAAGTCAGAACAGACTTGGGGCTTCCAGGCTATGCCCGGTGACAGCTGAGCTCTTCAGAAATGCGTCACATTCAGCGTTCACTTCCTTCGCTTCCTCCACTACCTATGACATAGCGGGGGAAAGAGACAACCATGAGAGAGGGGTCCCTCCTCGCTGCCCTCCTCGCAGCTGTGCTTGAGTTTCAAAGGGGGAGAGGTTTGTGAGGGACCGGCACAGGGACAGCCAGAGCCGGCACCCTCCGGCCCACCGTGGCACCCCTGACGATCGCGGGGTGGGGTAGGAGTGAGGGTGGGGGTCGGGGTGAGGTAGTGCTGTGGGGAGGGCACTGTGAATGATGGAAACGTCCCTTCTCAGCCTGGGTCGTGCCTAACCTGGGTCTCAAATCCCACTCTGCCTTCACCCTGGAGTACACTCCAGCGAAGCCGAGGCCCAGCCAACGCTCGTGAAGTTTCCACAGAGAAGAGCCTGCAAAACTCCCACTGGAAGAGGAGAAATAAAGGCCATGGAAAGAAACCCCAGGGAAGAGACAGGCCTCGTTCACAGACCCTAGGCAGGGAATAAAAAATTCAAGTCATTCACAGAAGTCTTGAAAGGCATGAGGATTTCTGACAGTTCCTAGAAAAAGGCAACATTTTCTTTATCTTTGTATCCATTGGCCAAGAACGCCGACATGTGAGACTTGCTTCACCAGCCGCCACCGCTTCCTTACAATCTCCCGCACTGCTGGAGCGGGCTGGGTAACTACAGGACTGTGCTCTGTGTGATAAGATTTGGTGATTCCACTTTATAAGAAAGGAAACTGCTTTAATTAAAGCAGGTTAATAATTAAAACTTCAAAGTACTGCACAGCCACAGAATTTTCTTGAAGGGAGAAAGCGGTCACTGGCCATATGATGCGGAGATGGTTTTATCTGAGGCCTGAGAACCAACAGATGTGCCTGCGCCCTGGCCTGTGCAGCTGTGGGCAGATGTGTCCCCAGGGGCCTGCCCTCACTCGTGACCATGCAATACCCTGCAACATAAACATTTTCTTTTCCAAGGATCTGCAGGGGTGGACATGATGCTCCAGGCACAGAGTAGGAAGAAAAGGGGGTGACCTGGGGTTCCCAGCAAACAGGTCCACCTCATGCTCACTGCGTTCTCAGGGTGAGGCATAGGGCCTGACATATGGTAGGAGCTCTAGGGATATTCACTGAACAAAAGAACATAGGAAAGAAAAGAAACGAGGTCGGATGGAAGAAACGACCCAGCCAGTTAGGCAGGCCTTGAGTCAATGCCTGAAGTGACCGAAATCACCACCAGATGGCAGCATGGAAAGCAGTTCAGACCGCGGCCTCCGTGGGGCCCGGGGGTCCAGTGCCCGCACCACTATGGGGCCCGGGACTGGGCTCCCTGTCCAGACCTCCAACCCAGGCACAGTTCCAAAAAGAACAAAACAAAACAAAAGTGCACTCCTCTTGTTTTTATAAAAGCTGAGTCCTGATGGCCTTGCTCAGTGTTTCCGTTTTGAGTTAAATGAACTCGATGCCTTCGTATTTCACGCTTCCGATCTTGGTCTCCGGCAACAGGAAGCGCCCGTCCAGCGTGAAGGCCATGATGTAGGAGGCGACTCTGCCGCTGTCCTCCTCGGATTTGAGGGCCACAATGATCTGGTCGTCGGTGTTGGGGATGAACTTGAAGGACGAGAAGCCGTGAGTGGGGACCACCGCCCCGACGTGGCTCACAGCGATGTCGCCGAAGTCAGGGGAGGCGCTCAGCAGCAGGTTGGCGCCCTTGCGCTCGTCGTCCTTCTCGCTGTAGCGCTCCTGGCTGGCGCGGCGCGGCGCGGCAGGAAGAACCAGCGCTGCAGCGTGTCACTCCAGCAGGCAGACTCATGGATGAGGTAGCCTGGGAACCGGGTGACCGCGGGTCAGACACGCATGCGGCCTGGTGTGCCCAGCCCCACACCATCAGGCCGTGCGCAGTAGCAGGCAAGGGGCTGCGACCACCAGGGCCCACCAGCTCACAGCAACCCGCCCCTCCCTGCTCTCCAGGATTCTGGAAGGTTCTGTGTTCTCGGTTATCCCATGCAGGGAACCTGCAGCACCCGCTCCCTTGAAGCCTCCTCCCGTTCCACCGAGAGCTGCCTGTGAGCTGCATCAGGGATTTGGGCTCATCGGAGCCTCCTCGGGGCTGATCCAGAGGAACCCAAGGAAAGGGAACAAACCCCCATTGGATGTGGGGAGGCATCGGCGGGGAGGCTGCCTTGAGGCTGCAAGGAAGAGGAGACAGCGTCTGGGGCCCCAGGCACAGACTCAGTCACTTCCTCCTGAACCTCAGGCACCTAAGGCCTACTCCATCCTGACTAGGGGGAGGCCAAAGTGCTGCTGGCCCTATGTTGGTGTGGAACACCACGGCCCAGCGCCAGGGGTAGGGACAGGGCCTGACCCACCAGTGCAGACAACCGGGCCACAGGCTGGGATGCTAGGAGGCCAGCTGCCAGGGCGAGTGGGGCAGGAAAGAGAAAACAGCTCATTTGCCGCCAGAATCCACTGGCCTGAGGGAAGCCACCATCAGAGGCAACCAAAATCACTAAAATCAAGCAAGAAACGGCCTTGGAGGCTGGGTGTGGTGGCTCGCGCCCGTAATGCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCAGATCACCCGAAGTCAGGAGTTCGAGACCATCCTGGGCAACATGGTGAAACCCTGTCTCCACTAAAAATACAATTAGCTGGGCGTGGTGGTGCACACCTGTAGTCCCAGCTACTGGGGAGGCTGAGGCAGAAAAATCGTTTGAACCCAGGAGGTGGAGGTTGCAGTGAGCTGAGATCGTGCCACTGCACTCTAACCGGGGTGACAGAGCAAGACTATGTCTAAAATAAAAAACGGTTTTGGAGGCAAATGCAGGAGGAAGCAGGTTCCCAGCGACTGGGCTGTGGAAGCCACACTGTGGGCTGGGGCAGGCGTCTCTTACCTGGCGGCTGGATGCCGGCAGCAGCCCGCAGGGCGTTGTAGTTGGACACCCAGTTCTCGTGGTCCACGCTGCCCTTGTAGCCCACCACCTTCACCCACTCCGGGTTCTCGTTCACCACATCACCCGTAGTGGTCGTCCACTCCTTGCCCAGGCCGCCCACGTACAGACGCTCGTCCTTCACTGCCAGCCATTCGGCCTTGAAGCCTGGCCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTC | pathogenic | 284,830 |
Is the chromosome 17, position 78997274 variant in CANT1 (calcium activated nucleotidase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Desbuquois_dysplasia_1'] | CCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTT | CCAAGCAGAGTGTCCTTAGGCCCCGCACCCAGCTCCCGCCGCACCCCTGCACCTGGCTCCCACCCGGCCCCGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTNN | pathogenic | 284,841 |
Variant chromosome 17, position 78997344, gene CANT1 (calcium activated nucleotidase 1): benign or pathogenic? Disease(s)? | pathogenic | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTT | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTN | pathogenic | 284,842 |
Considering the genetic mutation at chromosome 17, position 78997344, impacting CANT1 (calcium activated nucleotidase 1): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Desbuquois_dysplasia_1', 'Inborn_genetic_diseases'] | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTT | CGCACCTGTCCTTAGACCCCGCACCTGACTCCCGCCCGGCTCCACACCTGCCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTNN | pathogenic | 284,843 |
The chromosome 17, position 78997394 genetic variant in gene CANT1 (calcium activated nucleotidase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Desbuquois_dysplasia_1', 'Epiphyseal_dysplasia,_multiple,_7'] | CCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTCTAGTCCCAAGGCCTCAAAACCCCAGCCAGGCCCAAGAAGTCTCCACTGA | CCTCCCCTCCGGCCCGCACCTGGCTCCCGCCCAGGGCCGGCCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTCTAGTCCCAAGGCCTCAAAACCCCAGCCAGGCCCAAGAAGTCTCCACTG | pathogenic | 284,846 |
A genetic alteration at chromosome 17, position 78997434, in gene CANT1 (calcium activated nucleotidase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Desbuquois_dysplasia_1', 'Epiphyseal_dysplasia,_multiple,_7'] | CCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTCTAGTCCCAAGGCCTCAAAACCCCAGCCAGGCCCAAGAAGTCTCCACTGAGCTCGAATTACTCTATCTTACCTGCTATGCCAATCCCGCC | CCGGCTGCCCTCCCCTCAGCTCCTGAAGGTTCAGTGACCACTCTCAAGTCTCCTCTGATCCCCAACTCCCCGCTCCTCAAGCTGTAACCCCAACCTTAGGATTATCCTTAAAGGCTAGAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTCTAGTCCCAAGGCCTCAAAACCCCAGCCAGGCCCAAGAAGTCTCCACTGAGCTCGAATTACTCTATCTTACCTGCTATGCCAATCCCGCCN | pathogenic | 284,849 |
Gene CANT1 (calcium activated nucleotidase 1) variant at chromosome 17, position 78997551—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Desbuquois_dysplasia_1', 'Epiphyseal_dysplasia,_multiple,_7'] | GAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTCTAGTCCCAAGGCCTCAAAACCCCAGCCAGGCCCAAGAAGTCTCCACTGAGCTCGAATTACTCTATCTTACCTGCTATGCCAATCCCGCCTACATTTCTTTTTTTGTTTTTCTGAGATAGGGCCTCGCTCTGTTGCCCAGGCAACAGTGATCACGCTCACTGCAGCCTCAACCTCTGAGGCTCAAGCGATCCTCCCACCTCAGCCTC | GAAAAGCTGAAAAGTGACAGCACTCTGAAGGGGCACGTGTGTCCCAGGGGAGTGCGGGTGCTGCCCTCGGCCACACCTGAGGTCTCACCGAGCATCACTCTAACTCCAGTGGCCGGAGAGGGGCTTGGTGCTGGGGCTCCCAGTCTTCCTTTCAATGGATTTGTTCAGAAGCTGTTTTTGCTTTTTTTAAACTGATTTATTTAAAATAAGCCTAACTTTGAAGGCTGCCACAGTTCAGGCTGTGTGGGAGCCTGTGTTCTACCGTGTATTCTTATCATCCCTACACCCTGGTGTTCTAACTTCTGTTTGCTTTCCCCAAATTTTGCCAGCTTCTTGCCCCTGAGAGCTGGAGCTGTGCCCTCTGAACTGCCCGAGACTGTAGTAGCTTCTCTGCAGGGCCCTGGAGGGACCTGCGGTCTCCTGGTCTGCTTGTGCGATGAGACATTCTCCATGCCAGGGTCTTCCATCCCTCCCGGATGACCTGAGTACAGCCCAACCCCAGAGCTCCCTGTACCCCGCTTTCCTCCCTATCCAAGGGAAGGACAGAACTACACTAGGGTTGCCTAAAACCCTGACAAGTGCGAGGCAGGAAGTAGGCGACCAACGCCTCAGTTGATACCTCAGGTGAGGTCCGTCCCCTGCCCAGCCCTGGGCAAACACTGAAGATTTTATCACCGGGTGTGGGGAGGGCCTGGCCGGCCATGAACTGTGTGGGCCGTTGTTTAGTGCAGTTCCTCCTTGACCTCAGAAAGCCTGCGGTGGCATTTAGCTTTCTAGAAGGTGGGGATCCACCGCCAGCTCAGACAAACGGAGCTCAGAGGAGCTGGCAGCTCCTCTGCCAGCGTCCTTGGCACCTCCCCAGCTCCTCTCTGGAGGAAGACACTGGCCACCGTGCCTCCCCAAAGCCTGTCCCTGCCCTGTGGAAGCAGCACCTCCTTTCTGGTGAACAAAAAGGCTGGCATCAGGCTCCACTCCAGGGGGGTTGGCACAGCTCACACATGCCCTCCCCCTGCTGGGGTTCAGGGAGAGGAGGGCTGGGCAGCAGTTTACCCTTCAGTAACATGAAACCAAAGTCTGGGTTTTGAGTGAGAACCATCTGTCCCCATGGCTTTCAGGGCAAGGCTCCTGGTAGGCACATCCTAGCGTGGTCTTGAGAACCTTTGAAGGTGTAAAAAGGGCGTGTTCCCAGAGGCTCCGAGAGCAGCAGCGGATACAGCCGAAAACATCTTGGAGAGATTCCCCACGTCTCCCACAGGCCTCTAGCGATAAGCTCTTCCTCCTAGAAACTGCTCAGTGTGAAGTGACAGTAGGCTATGCTCCTGGCTAAGGGTAAGGGGGCCGCAGGTCAGAGCAAGAGGGAGACGTGCTCCCTCACCACATCCCTGGCTTCTAGGTGTGTGAATTCTTTACCATGTGCCTGTGTTTGCCAGCCAGGCCCTGAGCTCCCACTCCCCACCCACACCTCCATAAAACCTCAGGGTCCAGTTACCTTTCTCCACGGTGCCGTCGCCGTCGGACAGAATCACCCAGGGCACGGCTTTGCTGCCTTCGATCTGGTAGACGACCCCCGTCCGGTCATCCACGGAGTAGAGTTTCCCATTGAAAACAATCAGGTCGGATAGCTCCATGCCTCTCCCCTTCTCCGCCAGGTGGGACTCCAGGACCCCATGGTCTTTGTCCCATTCCACGGCCACCTTGTCCCCACTGTCTGACAGGGTCAGGTAGCCCTTTTTCAGGTAACTGAACCAGGTGTTTTCCTCTTGGGCCCTTGACTCTGTGTCCAGGTCTGCGATAACTGCGATTCGATACCGAATCCCAGCCGGTGTCCTTTGTGGGGGAGACAGGGGGTAGGTGTCATTGTACCAGTTGGCGGGCGCCTGGCCGAGCCTCCAGTTGTGTGCATTGTGGGTGGGGGGCCTGCCGGGGGCCGGGCGGTGGGAGCAGAGCAGCCAGAGGATGGCAGCACCCACAAAGAACGTCAGGATCACCTTCCAGCGGGGGCGGAAGCGGGGGTCCGCGGCCTTGGTCATGGACGCCAGCACAGGAAGGCCCCCCCACACTGATCCGGAGGGAGTGCATAGACTCATTCCATTCCGGGTGCTCAGACAGCTGCACGGGCATCAGCGTGACAGACAGGCGGGACCTGCACAGCCAGGGAGGGAGGAGAGGAGTCAGCGCCTCCGCAAGCCCAGTCACATCTTAGTTCCGGAAGCTGCAGGCGCTGGAGGCTGACTTTTCCAGAAGAAACAGTATTTCACTACTCTGTGGCCATTCTTACTCCCTTGGCTTAATGAATTCCCGACTCTAGATTCCCGACTCTAGCAGTATCTTTGCTTACTTTCATTCGGCAAGACGTGAAGTCTTTCCACAGCAAAATTACTCCATCTCCCCTGTCCCAGCTGGCAACGTGGGAAGCTGAGTGAGGAAGGAAGTTCCATGCAGGCTGGTGCTCTGTGGTCCCTCTAAAGAGAGAAGCGCAGGAGAGTCAGGTGGGAGGGGAAGGCTGACGGGGTGAAGTGGGATAGGATCATAGACAGGGTACAGGTCTGTATTTTACTCAAATGCCACCTCATCCAGGAAGCCCTCCCTGACTGCCCTGCTGCAGACATCACCCTCCGTCCCTGGGTCCTTGGCCCTTGTCCCCACCTGACGTTAGAGTATTGTATACAGTTATCGGTTTGTTTGTTTCTGTCTCCACCTCTGTATCCTGGCTCCTAGAACAGTGCCTGGCCTGGAGCAGACAGATGTGCAGTAAAGGAGTCTCCACTTCCTCTGGGTTAGGCTCCTGCAGCATTGGAATACCAAACACATCCAAACCAAATAAAAACACTCCTTCTTTTTCGTATCTGTTGTTGTTTTTGGCAGTGTCTGTCCCCTGGCGCCTTTCTATTAATGCAAATGACTGCAGGGACCAGAGTCTGCGCTGCCCTGACTGCCTGGAGGCCAGCGTGTCTGTGCCTTGGCGCCAAAGAACTGCTCGGCTCACTGCGGGGCCTGGCTCGGCCGCAGGCCTCTCCCAGCTCACCCTCCACCCCAGGCGTGGCTCTGTGGCAGAGCCCCAGGGTCAGGGTGCTGGTGGCGGCCAGGAACTGCAGCCCTTCACTGCTGTCGCCAAGCCCACTTCCCGGGCATACAGCATGATGGCTCAGTGCAGCCATGGGGCACCAGGCCCACGTCTGCGCCGCCTTGGTGAGAGCTGCCTGTCTCTGGACAGCCGCCAAGTGCCACAGTGGGGCGTGGGGAGACAGCTCCCGGTGCTTCGATCGAGAACACTGGCCCTGGGCAGAGGTTCCATATCTCTGCCCTCCAACTATAGCTCAGTGAATCCCGGCCTGAGAAGCTTCCCTGGCTGGGTCCTCCTTGAGAAAACAACAAAGCAGCAAACATGTGCCTTTATGGGCAGACGCTGTCCTCCCTGCCAGGGCGCCTGGGAAGGGCTTGGGGACTCCAGTGGCTCCGTGCAATTCTGGGCCCCAAATATGTGGACCACGAGGCCCTGGTGCACGGCAGCCAGCAACAGACACCCCCACCAGAGACACCCCCTTCTCCACGCCGCAGCCTGCTGGGCTGAGAAGATACAAAAACAGGGTGACAATTCCACATGGAACTTTCGGACAGTCCTAGGTTTTAGCCCCAGGGTGAGGTTCAAGGAGTGAACAAGGCACATACGTGGAACCTGCTGCTCAGAGTGATCCTCCTAACAGCACAGGGGGGCTGCCAGCAGTTCCTCCAGGCCCGCAGGGAAGACTCCATGCTCCCTTTAAGGGGCAGGCCTCTCAGGACCCCCTGAGGTGGTCACAGGGCTGATCACCGGGGCCTTCCCGGCAGCAGGGCTGGGGTTCCCCGTGCTGGACATCCTCCTCTGACTGCATCCAGGCCCTGCCCCTTTTCTAGTCCCAAGGCCTCAAAACCCCAGCCAGGCCCAAGAAGTCTCCACTGAGCTCGAATTACTCTATCTTACCTGCTATGCCAATCCCGCCTACATTTCTTTTTTTGTTTTTCTGAGATAGGGCCTCGCTCTGTTGCCCAGGCAACAGTGATCACGCTCACTGCAGCCTCAACCTCTGAGGCTCAAGCGATCCTCCCACCTCAGCCT | pathogenic | 284,852 |
Gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) variant at chromosome position 80039965 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['CCDC40-related_disorder', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | AGCTTTGCTTTTGTGGCATCTCCGCCACCTGACAGGCATGATATAGTGCTATGGTTCCTGACAAACAGGACAAAGACGTGACAACAGCCTGGGGGTGGCAGAGAAGTAACAAGTAAATAAACAGATGTGCAGAATTCAGGAGGGGATAAGGACCAAGAAAAAGAAAGCTGTTGCTTGAAACTGTTCAATTGTTTCTCTAAAACCAGGTCCCATCCGGAAGATGGATCGGCTTCTGAGGGAGAGAAGGAAGGGAATAATGAAAGCCACATGGTAAAATTCCCTATGGGCAGTTATTCCGGGCTTATATTTACTAGGAATTAAAGAGAATCAGAGTACGGGCACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGGATCACATGAGGTTAGGAGTTTGAGACAAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCGTGGTGGTGCGCACATGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAGTGGCTTGAACTCGGGAGACAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACCAGTGAAACTCTATCTCAAAAATAAATAAATAGGCCGGGCACGGTGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAAAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTTGCCAGGCATGGTGGTTCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAATAGATAAATAAAATTAAATTAAAAATAAATAAATAAAGAGAATTAGGACTTGGTCAAGTATATTGTATGATGACATTATCTTGCACCAGAACAAACTCAATTCAGTTGAAGAGAGACTCATTTTCTTCCTACCCCATTCTACAGTGTCAGTGATTAGTCAGGGATGCAAAGGATGTCCAACTTTGGGTTGCCCTGAGTTTTTCGGAACTCATTTCCTGTAACAAAGGATGCAAAAATGATTATGAAAAGCAGAGAGGGCCAGGCATGGTGGCTCACGCCTGTGGTCCCGGCACTTTGGGAGGCTGAGGCGGATGGATCTCTTGAGGCCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCCCTACTAAAAATGGAAAAATTAACTGGGCATGGTGGTACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGCAGCAGAGTGAGCCCCTGTCACAAAAAAAAATAAAAAAAGAAAGAACAGATAAACTGAAGCATGAAACATGATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCTCCAGGCTGAAGTTCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTTCCGAGTTTAAGCAATTCTCCTGCCCCAGCCTTCTAAGTAGCTGGGATTACAGGTGTGCACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGAAACATGATCTCTTAGTGATGCTGAGAAGGGTATAAATGCAGTTTTCCCATTGATATAATTACACTATAAAGAATAAAACCTCACAAGGTCCTTTATACTTTGTTTCCTGATTTTTTTCCTGCCACACCTTTACAGGTGTCACCACCAGAGAAGGATGATGGCCAGAAAGGTGAAGAAGCTGTCGGTAGCACAGAGCATCCTGAGGAAGTCACAACCCAAGCGGAAGCTGCAATTGAAGAGGGGGAGGTGGAGACAGAAGGGGAAGCAGCAGTGGAAGGGGAAGAGGAGGCTGTGTCCTATGGAGATGCTGAAAGCGAAGAGGAATATTACTATACAGAAACTTCATCCCCGGAAGGGCAAATCAGTGCTGCAGATACGACTTACCCGTATTTCAGTCCTCCTCAGGAACTGCCTGGAGAGGAGGCATACGATAGTGTTAGCGGGGAGGCTGGTCTCCAAGGCTTCCAGCAAGAGGCCACCGGTCCACCAGAATCCAGAGAAAGGAGGGTCACCTCCCCAGAGCCATCCCACGGAGTCTTAGGCCCGTCGGAGCAAATGGGCCAGGTCACCTCTGGGCCAGCAGTGGGCAGATTGGTGAGTAGCCCTGACTTCTGTTTTGTGCCAGTGTCGCACGGCCCACGGGGTTTGTCACCCTATGTGAGGAACTTGGGAATACATTATAAATACAAATTGCAATCCCTGTTAGAAATGTCTTAGCAAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGTGGGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATCCTGTCTCTACTAAATATGCAAAAATTAGGCAGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGCTTGAACCCGAGAGGCGGAGGCTGCAGTGAGCCAAGATCCCACCATTGCACTATAGCCTGGGCAACAGAGTGAGACCTTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAATTTCTTAGCAAGCTTAGGTCTCAGGATTCACGGTCAAATGCTGAGAGATCCTGGACTCTGCTTCAGTCTGCCCAAGCCCAAGGCTGGGGGCCTCCATAGCCGCCATCCACGTAAGGGCATCCAAGTTCCCAGGCTTCCAGAGCAGCATTGTCCAATACGGTCCATCAGTCACATGTGGCTACAGAGAGCTCTCCAAATGTGACTAGCGAGCTGGAGGAATGGAGCTTTTAACTGTTTAAGATTCTAATTTCCATTTAAATAGCCACCTGTTGCCAGTGGCTGCCATAATGAATAGTGCAGTTCTAGATAAAAACAATGACAATAGCTGCGTTCTTATATTTTTTCATCAATTTTCTTTAAACAATCACAAAGTTACAGAAAAAAATGGAGTACAATAAAAAGGATCTTTTATTTTCTTAAACACTGGAGAGTGGGTTGCGGATCTGGTCACCAAAGCCTTCGAACGCTTCTGTATGTTTCCCACAAACAGCTGGGACACAACCATCAAAATCTAGAAATTGGGTCGGGCATGGTGGTGCACGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGAGAGGCAGGGGTTGCCGTCAGCCGAGATCGCACCCCTGTACTCCTGCATGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTCTGGAAATTGCCTTGCTCCATTTCCAAGGAATGCTCAGGCCTCATTCAGGGTTCACCAAATGTCCCAATGATGTCTTTTGTAGCAAAGAGATTCAGTTCAGAATCAAATGTTGCCTTGAGTGCTCATATTTCTGTAGTCTCCTCAGTCTTTCCTTGACAACCTTGACCCTTGTGAAGGTCATAGGCCAGCTGTCTTGTAGAGCGCCCCTCAGCCTGGATTTGCCCCGTGTTTCCTCATGATGGGGTTAGGGTCATGAGGCTTTAGTGGGACTATCACGGAAGCGACGTGGGGCTCTCAGTGCGTCCCACCAGGGATGCAGGATTCCAGCTTCCACCATTCCTGATGATGTTCACTTCTGTCACCAAATTTAAAAGCACCAAGATTCTTCATTGTGAAGCGACCTTTTACTCCTTTATACTTAATGAAGATTTTGTGGGAAGGTGCTTTTTTCTTTTTTGGTTTAAGATAGGAAGGCGAATACTATTTA | AGCTTTGCTTTTGTGGCATCTCCGCCACCTGACAGGCATGATATAGTGCTATGGTTCCTGACAAACAGGACAAAGACGTGACAACAGCCTGGGGGTGGCAGAGAAGTAACAAGTAAATAAACAGATGTGCAGAATTCAGGAGGGGATAAGGACCAAGAAAAAGAAAGCTGTTGCTTGAAACTGTTCAATTGTTTCTCTAAAACCAGGTCCCATCCGGAAGATGGATCGGCTTCTGAGGGAGAGAAGGAAGGGAATAATGAAAGCCACATGGTAAAATTCCCTATGGGCAGTTATTCCGGGCTTATATTTACTAGGAATTAAAGAGAATCAGAGTACGGGCACTGTGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCAAGGCAGGTGGATCACATGAGGTTAGGAGTTTGAGACAAGCCTGGCCAACATGGTAAAACCCCATCTCTACTAAAAATATAAAAATTAGCCGGGCGTGGTGGTGCGCACATGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGACAGTGGCTTGAACTCGGGAGACAGAGGTTGCAGTGAGCCAAGATCACACCATTGCACTCCAGCCTGGGTGACCAGTGAAACTCTATCTCAAAAATAAATAAATAGGCCGGGCACGGTGACTCACGCCTGTAATTCCAGCACTTTGGGAGGCCGAGGCAGGCAGATCACGAGGTCAAAAGATCGAGACTATCCTGGCCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTTGCCAGGCATGGTGGTTCACGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCTTGAACCTGGGAGATGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCAGCCTGGCGACAGAGCGAGACTCCATCTCAAAAAATAGATAAATAAAATTAAATTAAAAATAAATAAATAAAGAGAATTAGGACTTGGTCAAGTATATTGTATGATGACATTATCTTGCACCAGAACAAACTCAATTCAGTTGAAGAGAGACTCATTTTCTTCCTACCCCATTCTACAGTGTCAGTGATTAGTCAGGGATGCAAAGGATGTCCAACTTTGGGTTGCCCTGAGTTTTTCGGAACTCATTTCCTGTAACAAAGGATGCAAAAATGATTATGAAAAGCAGAGAGGGCCAGGCATGGTGGCTCACGCCTGTGGTCCCGGCACTTTGGGAGGCTGAGGCGGATGGATCTCTTGAGGCCAGGAATTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCCCTACTAAAAATGGAAAAATTAACTGGGCATGGTGGTACACACCTGTAGTCCCAGCTACTTGGGAGGCTGAAGCAGGAGAATCGCTTGAACCCAGGAGGTGGAAGTTGCAGTGAGCCGAGATCACGCCACCGCACTCCAGCCTGGGCAGCAGAGTGAGCCCCTGTCACAAAAAAAAATAAAAAAAGAAAGAACAGATAAACTGAAGCATGAAACATGATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTGTCTCCAGGCTGAAGTTCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTTCCGAGTTTAAGCAATTCTCCTGCCCCAGCCTTCTAAGTAGCTGGGATTACAGGTGTGCACCACCATACCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGTCAGGATGGTCTCAATCTCCTGACCTCGTGATCTGCCTGCCTCAGCCTCCCAAAGTGAAACATGATCTCTTAGTGATGCTGAGAAGGGTATAAATGCAGTTTTCCCATTGATATAATTACACTATAAAGAATAAAACCTCACAAGGTCCTTTATACTTTGTTTCCTGATTTTTTTCCTGCCACACCTTTACAGGTGTCACCACCAGAGAAGGATGATGGCCAGAAAGGTGAAGAAGCTGTCGGTAGCACAGAGCATCCTGAGGAAGTCACAACCCAAGCGGAAGCTGCAATTGAAGAGGGGGAGGTGGAGACAGAAGGGGAAGCAGCAGTGGAAGGGGAAGAGGAGGTGTGTCCTATGGAGATGCTGAAAGCGAAGAGGAATATTACTATACAGAAACTTCATCCCCGGAAGGGCAAATCAGTGCTGCAGATACGACTTACCCGTATTTCAGTCCTCCTCAGGAACTGCCTGGAGAGGAGGCATACGATAGTGTTAGCGGGGAGGCTGGTCTCCAAGGCTTCCAGCAAGAGGCCACCGGTCCACCAGAATCCAGAGAAAGGAGGGTCACCTCCCCAGAGCCATCCCACGGAGTCTTAGGCCCGTCGGAGCAAATGGGCCAGGTCACCTCTGGGCCAGCAGTGGGCAGATTGGTGAGTAGCCCTGACTTCTGTTTTGTGCCAGTGTCGCACGGCCCACGGGGTTTGTCACCCTATGTGAGGAACTTGGGAATACATTATAAATACAAATTGCAATCCCTGTTAGAAATGTCTTAGCAAGGCTGGGTGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCGAAGGTGGGTGGGTCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACGTGGTGAAATCCTGTCTCTACTAAATATGCAAAAATTAGGCAGGCGTGGTGGCGCACGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGTGGGAGAATTGCTTGAACCCGAGAGGCGGAGGCTGCAGTGAGCCAAGATCCCACCATTGCACTATAGCCTGGGCAACAGAGTGAGACCTTGTCTCAAAAAAAAAAAAAAAAAGAAAAGAAATTTCTTAGCAAGCTTAGGTCTCAGGATTCACGGTCAAATGCTGAGAGATCCTGGACTCTGCTTCAGTCTGCCCAAGCCCAAGGCTGGGGGCCTCCATAGCCGCCATCCACGTAAGGGCATCCAAGTTCCCAGGCTTCCAGAGCAGCATTGTCCAATACGGTCCATCAGTCACATGTGGCTACAGAGAGCTCTCCAAATGTGACTAGCGAGCTGGAGGAATGGAGCTTTTAACTGTTTAAGATTCTAATTTCCATTTAAATAGCCACCTGTTGCCAGTGGCTGCCATAATGAATAGTGCAGTTCTAGATAAAAACAATGACAATAGCTGCGTTCTTATATTTTTTCATCAATTTTCTTTAAACAATCACAAAGTTACAGAAAAAAATGGAGTACAATAAAAAGGATCTTTTATTTTCTTAAACACTGGAGAGTGGGTTGCGGATCTGGTCACCAAAGCCTTCGAACGCTTCTGTATGTTTCCCACAAACAGCTGGGACACAACCATCAAAATCTAGAAATTGGGTCGGGCATGGTGGTGCACGCCTGTAATCCCAGCACTTCGGGAGGCCAAGGCGGGTGGATCACTTGAGGCCAGGAGTTCGATACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGACGTGGTGGTGCACACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATCACTTGAACTGGAGAGGCAGGGGTTGCCGTCAGCCGAGATCGCACCCCTGTACTCCTGCATGGGCGACAGAGCGAGACTCTGTCTCAAAAAAAAAAAAAAATTCTGGAAATTGCCTTGCTCCATTTCCAAGGAATGCTCAGGCCTCATTCAGGGTTCACCAAATGTCCCAATGATGTCTTTTGTAGCAAAGAGATTCAGTTCAGAATCAAATGTTGCCTTGAGTGCTCATATTTCTGTAGTCTCCTCAGTCTTTCCTTGACAACCTTGACCCTTGTGAAGGTCATAGGCCAGCTGTCTTGTAGAGCGCCCCTCAGCCTGGATTTGCCCCGTGTTTCCTCATGATGGGGTTAGGGTCATGAGGCTTTAGTGGGACTATCACGGAAGCGACGTGGGGCTCTCAGTGCGTCCCACCAGGGATGCAGGATTCCAGCTTCCACCATTCCTGATGATGTTCACTTCTGTCACCAAATTTAAAAGCACCAAGATTCTTCATTGTGAAGCGACCTTTTACTCCTTTATACTTAATGAAGATTTTGTGGGAAGGTGCTTTTTTCTTTTTTGGTTTAAGATAGGAAGGCGAATACTATTTAN | pathogenic | 284,901 |
The mutation in gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) at chromosome 17, position 80048574—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | CTTACTCAATAATAATAATAATAATAATAATAAAAGAGTGGTTTCTGCGTGTCTGCATCTGTAGCTAAGTGTAAACACCCAGGCACGAGAATGCATGGGTCCTGGGATCTTTTGCTCCCACATGCTGAGCGCCTCGAGGATGGGAAACCACAACTCTGAGCACCCTCTTCATGAAAGCATGCGGAAAAGCCTCGGCTCCTGGCCAGGGTCTCCCAAGAGGACTGTTTCCTCTTCTCTCCTTTCAAACCAGCCCCCTTTAGGGAAATTTCAATAAGAAAATGTCTTCCCTTCATAAAAACACCTGGCTCGATTTTAACTTTATTTATTTATTTATTTTTGAGAAGGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCTGTGATCTCTGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCGCACCCAGCTAATTTTTGTATTTCTGGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAGTTACAGGCATGAGCCACGTGCCCGGCCAGGTTTTTTAAAAAACACACAGGTGACTATATTTTGAGTCTGACAACTTTCACAAATGTAATGAGTTAAAATTGAATAACTTCTCAGTGGCAATTAAGCCCTGTTGACTTAGTTTTGGTTGTTCTTGCCATAGACAGGATCCACAGAGGAGCCCCAGGGGCAGGTGCTCCCAATGGGCGTCCAGCACCGCTTCCGGCTGAGCCACGGGAGCGACATCGAGTCCTCAGACCTGGAGGAGTTCGTCTCGCAGGAGCCAGGTGCCACCCACCTGCTGAGGTCACCCTGCCCTGGCGATGAGCCACCTGCACAGGCCCTTCTGTGCAAGGGATGCCACTCGTTTGTCATCCGTTACCTGTTTCCTGAGTGGCTGTGAGCTGAAAGAGAAAAATCTTATTAACAGATATGGATAACATTTATTGGGCATTTACTGTTTTATCTCATTTAATCCTAACAGTGACCGATGAAGTAGGAATCCTTCTCCATTTAACAGACAGGTTCCCTAAGGCCATTAAGGAACTGGTCCGATTAAGTGACAGAACGCGGCCTTCACCAAGATTCAGTGACGCCCAGCCCCATCCCCTGACAGCCATTTCTCACGGGCTCCTGGTCTCAGAGCGAGACGTGCCGTGACAGCAACCCCAGGCCTGAATCTGTCTGCTGGCTTTCAAAGGCTTTCCAGAACCCCTGTCTTCTTACGTAGTCCCAGTATCCCAGTGTTGTGGACGTGGGAGGGCAGATCAGGCAGTTGCAAATTCCCTGTGGTACCGACCTGCAGCCGGTCCAAACCTTTCATTACTTGCAAATGACATGAAAACAGCACGTGTCTAAATTAGTAAAAAAACAAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCCAAGGCCGGTGGATCACCTGAGGTCAGGTGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCTGTCTCTACTAAAAATACAAAAATTACCGGGCGTGGTGGCGGGTGCCTGTAATCCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTGGGGATAAAAAATATTGTATCCAATCCACTAGTTAAGTGGCCACCTTTCTGTTCACTCTTTATGTGTAAAGAAAGCCTCTCAAAAATAATTTCCTTCCTGCCTACCTTTAAAACGGGACGCTTTCTCTGGGATGCATTGAGTCAGGGAATAGAAGATGGGGTGAATGATGTTTCTGACCCACAGACCGTTGGGATGCTTTTGCTGTCACTTTCCCATCATGCTGCATGAGGCATGACAGCAGCTGTGCCATTGATGCCCCAGAATAGAATCACTGAGGCTTCTCTCCAGCAGCTCCTCAATGGTGTCGCTGTCTCTCCCCCCAGTGATCCCCCCAGGGGTGCCCGATGCCCACCCCAGGGAAGGAGACCTGCCAGTGTTCCAGGACCAGATCCAGCAGCCCAGCACCGAGGAGGGGGCCATGGCAGAGAGAGTGGAGTCCGAGGGGAGTGACGAGGAAGCAGAAGACGAAGGGTCCCAGCTGGTGGTTTTGGACCCAGACCACGTAAGGAAGCCTTCCCAGGTTTTGCTTTTGCCTACATGGATGGCGAATGACTCAGGCCCCTTTCTCTGCCTGCACTGTCTCCCACTCCTGACCCTAAATGCTGTACTTGTATCTCGCCTGTTCACTGCACCGTTTATTGGCACTGATTGACCTGCCTCTTCGTAGGGTACTCTCCTCTGAGGTTGGTATAGGTGAGGCCTGTGTTTCTCAACCCCGGAACCACTGCCCCGTGGGGCCGGGTCATTCTGTGCTGTGCCTTGCATGGTGTGGAACAGCATCCCCGAGCTCCCCCTGCTACATGCCAGGAGCACCACCCCCCCGCCTTGGTTGTGATCATCAAAAATGTCTCCAGGCTGGACGTGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTCTGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGAGCACCTGTAATCCCTGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAAGAGGCGGAGGTTGCATGCAGACAGCCAAGATGGCACCAGTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAATGTCTCCAGTCATTGCCAAATGTTGGCGGTGTGGGGCCCATCTTCGCAGCCACTGCCTTGAGGGCACCAATTGGATCGCAGCTCCCTGCCCCACCCACTGGCAAGGGGAAAAGGCAGATGTTGATTTCATTTACCCATCAGGACAGCTGCAGAGCTCCAGGAACTGCCGGAAGGAGCTGGGGGCTGCACAGGGAGGTTCTCTCCCCAGACCACTGCTCCACCCCACCCTCTGGCCCCAGCTCACCATCATTTTGCCAAAATATGCACTCAGTTCTCTGCAAGTGCCTCAGATGAGACCATGAGGTGCCTTTAATTTGTGGCTTCCAGAGTAAGAATCCCAAGCAGAAGCAGGGAGCACTCCACACGGAAGTCGTCTCTGGCCCACCGGAGGGAGACCTGTGGCCACCTGGGCTGAGCCCTGGGTCGGGCAGGAGGGTAACCAGAAAGGTAACCACCTGTGGTTTTCCATTGTTCTAGCCCCTGATGGTAAGATTCCAGGCTGCCCTGAAGAACTACCTGAACCGACAGATCGAAAAGTTGAAGCTGGACCTCCAAGAGCTGGTGTGTATCCGTCCAGTCTCCCACCCTGGTCGGATGCCTGCGTCCTGGTGACCCTGTTTCTCTCTTTGGTCCAGGTTGTGGCTACCAAGCAGAGCCGAGCCCAGCGGCAGGAGCTGGGGGTGAATCTCTATGAGGTGCAGCAGCACCTGGTACACCTGCAGAAGCTGCTGGAGAAGAGTCACGACCGCCACGCAATGGCCTCGAGCGAGCGCAGGCAGAAGGAGGAGGAGCTGCAGGCCGCCCGCGCTCTCTACACCAAGACCTGCGCAGCCGCCAACGAGGAGCGCAAAAAGTGTAAGGCAACCCGGCAGCCCCACACGCCATCCGGTCCTGGAGGGTTTCCCAGGGGTGTCTCCATGTACCATGGCCAGGCATCTAGAAAAGTAAGATGTGTGTGCATCCTGGAGGGGTTCCCACCCTTTTTAGGAGGGGAAGGCACATAAATCAAATGTCTTTTTGTTGTTGTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCCCCTTCCGGGATCAAGCCAGTCTCCTGGCTGAGCCTCCCAAGTAGCTGGTATTACAGGCACCTGCCACCATGCCTGGCTATTTTTTGTATTT | CTTACTCAATAATAATAATAATAATAATAATAAAAGAGTGGTTTCTGCGTGTCTGCATCTGTAGCTAAGTGTAAACACCCAGGCACGAGAATGCATGGGTCCTGGGATCTTTTGCTCCCACATGCTGAGCGCCTCGAGGATGGGAAACCACAACTCTGAGCACCCTCTTCATGAAAGCATGCGGAAAAGCCTCGGCTCCTGGCCAGGGTCTCCCAAGAGGACTGTTTCCTCTTCTCTCCTTTCAAACCAGCCCCCTTTAGGGAAATTTCAATAAGAAAATGTCTTCCCTTCATAAAAACACCTGGCTCGATTTTAACTTTATTTATTTATTTATTTTTGAGAAGGGGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGCTGTGATCTCTGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGCAATTCTCCCTCCTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCCCGCCACCGCACCCAGCTAATTTTTGTATTTCTGGTAGAGACGGGGTTTCGCCATGTTGGCCAGGCTGGTCTCGAACTCCTGGCCTCAAGCGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGAGTTACAGGCATGAGCCACGTGCCCGGCCAGGTTTTTTAAAAAACACACAGGTGACTATATTTTGAGTCTGACAACTTTCACAAATGTAATGAGTTAAAATTGAATAACTTCTCAGTGGCAATTAAGCCCTGTTGACTTAGTTTTGGTTGTTCTTGCCATAGACAGGATCCACAGAGGAGCCCCAGGGGCAGGTGCTCCCAATGGGCGTCCAGCACCGCTTCCGGCTGAGCCACGGGAGCGACATCGAGTCCTCAGACCTGGAGGAGTTCGTCTCGCAGGAGCCAGGTGCCACCCACCTGCTGAGGTCACCCTGCCCTGGCGATGAGCCACCTGCACAGGCCCTTCTGTGCAAGGGATGCCACTCGTTTGTCATCCGTTACCTGTTTCCTGAGTGGCTGTGAGCTGAAAGAGAAAAATCTTATTAACAGATATGGATAACATTTATTGGGCATTTACTGTTTTATCTCATTTAATCCTAACAGTGACCGATGAAGTAGGAATCCTTCTCCATTTAACAGACAGGTTCCCTAAGGCCATTAAGGAACTGGTCCGATTAAGTGACAGAACGCGGCCTTCACCAAGATTCAGTGACGCCCAGCCCCATCCCCTGACAGCCATTTCTCACGGGCTCCTGGTCTCAGAGCGAGACGTGCCGTGACAGCAACCCCAGGCCTGAATCTGTCTGCTGGCTTTCAAAGGCTTTCCAGAACCCCTGTCTTCTTACGTAGTCCCAGTATCCCAGTGTTGTGGACGTGGGAGGGCAGATCAGGCAGTTGCAAATTCCCTGTGGTACCGACCTGCAGCCGGTCCAAACCTTTCATTACTTGCAAATGACATGAAAACAGCACGTGTCTAAATTAGTAAAAAAACAAGCCGGGCGCGGTGGCTCACGCCTGGAATCCCAGCCAAGGCCGGTGGATCACCTGAGGTCAGGTGTTCGAGACCAGTCTGGCCAACATGGTGAAACCCCTGTCTCTACTAAAAATACAAAAATTACCGGGCGTGGTGGCGGGTGCCTGTAATCCCCAGCTGCTCGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCCGGAGGTGGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGGGCAACAGAGCAAGACTCTGTCTGGGGATAAAAAATATTGTATCCAATCCACTAGTTAAGTGGCCACCTTTCTGTTCACTCTTTATGTGTAAAGAAAGCCTCTCAAAAATAATTTCCTTCCTGCCTACCTTTAAAACGGGACGCTTTCTCTGGGATGCATTGAGTCAGGGAATAGAAGATGGGGTGAATGATGTTTCTGACCCACAGACCGTTGGGATGCTTTTGCTGTCACTTTCCCATCATGCTGCATGAGGCATGACAGCAGCTGTGCCATTGATGCCCCAGAATAGAATCACTGAGGCTTCTCTCCAGCAGCTCCTCAATGGTGTCGCTGTCTCTCCCCCAGTGATCCCCCCAGGGGTGCCCGATGCCCACCCCAGGGAAGGAGACCTGCCAGTGTTCCAGGACCAGATCCAGCAGCCCAGCACCGAGGAGGGGGCCATGGCAGAGAGAGTGGAGTCCGAGGGGAGTGACGAGGAAGCAGAAGACGAAGGGTCCCAGCTGGTGGTTTTGGACCCAGACCACGTAAGGAAGCCTTCCCAGGTTTTGCTTTTGCCTACATGGATGGCGAATGACTCAGGCCCCTTTCTCTGCCTGCACTGTCTCCCACTCCTGACCCTAAATGCTGTACTTGTATCTCGCCTGTTCACTGCACCGTTTATTGGCACTGATTGACCTGCCTCTTCGTAGGGTACTCTCCTCTGAGGTTGGTATAGGTGAGGCCTGTGTTTCTCAACCCCGGAACCACTGCCCCGTGGGGCCGGGTCATTCTGTGCTGTGCCTTGCATGGTGTGGAACAGCATCCCCGAGCTCCCCCTGCTACATGCCAGGAGCACCACCCCCCCGCCTTGGTTGTGATCATCAAAAATGTCTCCAGGCTGGACGTGGTAGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTCTGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAAAAAAAAAAAATTAGCTGGGCATGGTGGTGAGCACCTGTAATCCCTGTTACTCAGGAGGCTGAGGCAGGAGAATCGCTTAAACCCAAGAGGCGGAGGTTGCATGCAGACAGCCAAGATGGCACCAGTGCACTCCAGCCTGGGCAATAAGAGCGAAACTCTGTCTCAAAAAAAAAAAAAAAAAAATGTCTCCAGTCATTGCCAAATGTTGGCGGTGTGGGGCCCATCTTCGCAGCCACTGCCTTGAGGGCACCAATTGGATCGCAGCTCCCTGCCCCACCCACTGGCAAGGGGAAAAGGCAGATGTTGATTTCATTTACCCATCAGGACAGCTGCAGAGCTCCAGGAACTGCCGGAAGGAGCTGGGGGCTGCACAGGGAGGTTCTCTCCCCAGACCACTGCTCCACCCCACCCTCTGGCCCCAGCTCACCATCATTTTGCCAAAATATGCACTCAGTTCTCTGCAAGTGCCTCAGATGAGACCATGAGGTGCCTTTAATTTGTGGCTTCCAGAGTAAGAATCCCAAGCAGAAGCAGGGAGCACTCCACACGGAAGTCGTCTCTGGCCCACCGGAGGGAGACCTGTGGCCACCTGGGCTGAGCCCTGGGTCGGGCAGGAGGGTAACCAGAAAGGTAACCACCTGTGGTTTTCCATTGTTCTAGCCCCTGATGGTAAGATTCCAGGCTGCCCTGAAGAACTACCTGAACCGACAGATCGAAAAGTTGAAGCTGGACCTCCAAGAGCTGGTGTGTATCCGTCCAGTCTCCCACCCTGGTCGGATGCCTGCGTCCTGGTGACCCTGTTTCTCTCTTTGGTCCAGGTTGTGGCTACCAAGCAGAGCCGAGCCCAGCGGCAGGAGCTGGGGGTGAATCTCTATGAGGTGCAGCAGCACCTGGTACACCTGCAGAAGCTGCTGGAGAAGAGTCACGACCGCCACGCAATGGCCTCGAGCGAGCGCAGGCAGAAGGAGGAGGAGCTGCAGGCCGCCCGCGCTCTCTACACCAAGACCTGCGCAGCCGCCAACGAGGAGCGCAAAAAGTGTAAGGCAACCCGGCAGCCCCACACGCCATCCGGTCCTGGAGGGTTTCCCAGGGGTGTCTCCATGTACCATGGCCAGGCATCTAGAAAAGTAAGATGTGTGTGCATCCTGGAGGGGTTCCCACCCTTTTTAGGAGGGGAAGGCACATAAATCAAATGTCTTTTTGTTGTTGTTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAATGGCGCGATCTTGGCTCACTGCAACCTCCCCCTTCCGGGATCAAGCCAGTCTCCTGGCTGAGCCTCCCAAGTAGCTGGTATTACAGGCACCTGCCACCATGCCTGGCTATTTTTTGTATTTN | benign | 284,930 |
Clinical significance of chromosome 17, position 80058954, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | TGGCGGGCACCTGTGGTCCCAGCTACTCAGGAGACTGAGGCAGAAGAATGGCGTGAACCCGGGACGCAGAGCTTGCAGTGAGCCGAGATCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAGAATAGCAAGTCCTCAAAGAGAACTTAGAGGAAATTACTTTGGAATTTAGCTACTGCAAGCTATATTAATGCACAGGTTGCTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCCAGGCTGTAGTGCAGTGGCATGATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGATTACGGACGTGCACCAACACATCCTGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGCTAGACTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCTCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACACCCAGCCAAAATGGCTTTGCAAGTTTAAGCTGTATCCTTCGAGCACACCTGGCTCCAGGATGATATGCGTCCAGCAGCCTTTTGGCCTGTAATTCAGTTTTCTGTTTGGATCCAGCCACTGAAAGGGAGTGCTCTGTGCAGTGAGCAAGCAAGTACTGACCCACGTGTAGCTCCCTCAATAAATTTGCACTCCAGCTTTAGAAATCCATCTCATGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCAGGAGGTTAGGAGATGGAGATTATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGGGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTTCGTCTCAAAAAAAAAAAAAGAAATCCATCTCATGCAAGTTTTGTTAAAGGAATCAGTTCCTCGGGCCTTGGCCTCCTCTGAGAGCACTGACATAAATCTGTCACTTAACTTGGGACAGGATGGAAGCTGCTGCCTCTTCTAGCCTCGTCCTCTCTGGCCTGCACTGCTGTGCAGCGGTGTCAGTGCAGGGGCATCTGTGGAGCTCAGCCTGCCCTGGATGTTCTCGTCTCCTCCCAGGGGACTTAAGACTCCACCTAAGGTTGCCAGCCTTTCAGTGGTAAGACATCTATGCAATCAACCCGAAGCCTTACCACCTGGCACTACTTCAGTGTATCCTTAGACTACCAGGAGGATCTCTGAGACTTGGTGGGGAATGGAACAGCTTGCTGCAATTTGTGGATGTAGATTCCGTATATTTTTGTCTCTTCCAAGAGACTGTAAACTCTTTGCTGACAAAGTCTGTGTCTTGATAGTTTAAAAGCAGTTTCCCAGTCTTACCCAAAAATGGCAGGAAGGGTGCCCAGAACGGCTGTTCCCTGCTTCCTCCTGGGTCTCTGCATGGGGGACGCTGGGACAGCCTCCCCACTCACTCTCTCTCTCTTTCTCCCCCGCCGCGCCCCGCAGTGGCGGCTCTGCAGACTGAGATGGAGAACTTGGCCCTGCATCTCTTCTACATGCAGAACATCGACCAGGACATGCGTGACGACATCCGCGTGATGACACAAGTGGTAAAGAAGGCCGAGACGGAGAGGATCCGGGCAGAAATCGAGAAGAAAAAGCAGGTATTCTGCAAACTCGACACATGTTTAATGATCACCAGACCGTGGAGCTTCAAAAAGGGGCTCAGCTTTGCCTCCTGCGTGAAGGCTTCCGGCCGGAGGGGTGGCGGCCGGCCTGGGTGGCGTCAACTTGTATCAAGGGTTGGTGGAGAACAGGCCCTCAGCCACGGGCACCTCCTGACGGGGCTGCTTCTCATCCTGTTTCCCAGGACCTGTATGTGGACCAGCTCACCACTCGAGCCCAGCAACTGGAAGAAGACATTGCCCTGTTTGAGGCTCAGTACTTGGCCCAAGCTGAGGACACCCGGATTTTAAGGAAAGCAGTGAGTGAGGTAAAAGCAGTCCCCGCAGCTCTCAGTGTTCGACCCTCCAGTGAGTGTCCACGCACAGGGTGCTGGTGGGTCTACTAGACTGCACCTGCCCGTCTGCTGGATGAGTGACTGCAGCCAGCTTACATCTGCAAACATCGGGCCCTCCCCATGGTGGGGCCACAGTAGATACTGACAGGTGGACAGCCCGGATTCCTATTCCTTCCCTGGCTAGTGGGTGACAGAAGGCCTCGCAGGGTTCAGGTACTCTAGTCGCTTCATGACCGCCAAGGCCAGCTTGCTGCGGGGATGCTCAGCAAGTTCCTTAGCCTGCAGGGACCTCTTCCGGGGAGGACTGAAGTCTTTCTAACAATTCTCACCCCCGTGGGCAGCCGGCCTTCCGGGTAGCTCCTACATCTCTGCACCTCGTGGAGTAGGGAGTGGAGGGAACGAAGGGGGTGAAAGCTGCTCCCTCTTGGCCCCAGATTCAGGTCTGTAGTGGTAGCACCAGAAACCAAAGTTACTGCAACTTAAAAAAAAAAAAAAAAAAACTATGAGTCACCATCTTCATTCACGGGTGCGGGAATGACACGGAGGAAACAATTAACTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGGACTACAGGCGCCCACCTCCATGCCCAGCTAATTTTTGTATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTCCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCAATGAAAAAGAAGGAAGAGGACTTGAAGGAACGGATGAGCACGCTGGGCTCCCAGGGTAAAGGGAGGGCCCGGGGCTGGGCGTTACTCAGCACTGGTCTCTCCAGCTACAAATGCAATTAAAGTAGAGCACGTCCCAATCAGAATCTCAGGAACAAACAATCCCTTAGTTAACAAAACAATTCTGGAGTTTTATCTGAAAAATAAATTAGGAAGGCTAGCCAAGAATGGTTTTGGAAGAGAAGATTCAAACGGGGCAAGCAGCCATCCCAGTCTGCTCAGGACTGAGGGGTCCCCAAGACAAGGGACTTTCCATGCTAAGCCCAGGGGGTCCTGGACACAGCAGGATGGCAGATCACCCTAGCATCGCCGCACCAAATATTAAAGTATACAGTAAAGCTCTGGCCAGGCAAGGTGGTGCACACCTGTAATCCCAGCACTTGGGGAGGCTGAGGCAAGAGGATGGCTTGAGCCCAGAAGTTCAAGACCAGACTGGGCAACATGGTGAGACCCTGTCTCCACAAAAAAATAATAATTAAAAAAAAATAAAACATTAGCCCACCATGGTGGTGTGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTAAGCCCGGGAGGTCAAAAAAAAAAAAAGAACAACAACACTTTATTCTCAACGAATTGATTTTAAAGTTCACTTAGAAGACTAAATGCTCAAGAATACCCAAGAAAATTTTGAAAAGGAAGGATCATGAAAGATCCTTGAACTATGAAAGATCCAATGAAATATGATCATACCACTGCACTCCAGCCTGGGCTACGGAGCAAGACCCTGTCTAAAATAAAACAAAACCGTAAAGTTCTAGAGGCTAAAATAATGTGTCACAAGATAGACAGGCAAGACATTGAAGCCTATGAGAGAGCCCCAAAGCAAGCCAGAGTTTATATAAAAACCTAGTAGATTATAAATTACCAGAGAGCTAATGAATTATGCATCCAATGATGTCGGGACATTTGGTTAATCATTTGGGAAAAAATTAAATCTTTTCCTCATACCAGACACTAAAATAAATTCCAGATGGAATCAAGTATTTAAATGGGGGAAAATGTGCCAGACGAAAACAAATGAAAATATTTATATAATCCTGGG | TGGCGGGCACCTGTGGTCCCAGCTACTCAGGAGACTGAGGCAGAAGAATGGCGTGAACCCGGGACGCAGAGCTTGCAGTGAGCCGAGATCACCACTGCACTCCAGCCTGGGCGACAGAGTGAGACTCTGTCTCAAAAAAAAAAAAAAGAAGAATAGCAAGTCCTCAAAGAGAACTTAGAGGAAATTACTTTGGAATTTAGCTACTGCAAGCTATATTAATGCACAGGTTGCTTTTTTTTTGAGACAGAGTCTCACTTTGTCACCCAGGCTGTAGTGCAGTGGCATGATCCTCCCACCTCAGCCTCCTGAGTAGTTGGGATTACGGACGTGCACCAACACATCCTGTTAATTTTTGTATTTTGAGTAGAGACAGGGTTTCACCATGTTGGCTAGACTGGTCTTGAACTCCTGGCCTCAAGTGATCCGCCCACCTCGGCCTCTCAAAGTGCTGGGGTTACAGGCGTGAGCCACCACACCCAGCCAAAATGGCTTTGCAAGTTTAAGCTGTATCCTTCGAGCACACCTGGCTCCAGGATGATATGCGTCCAGCAGCCTTTTGGCCTGTAATTCAGTTTTCTGTTTGGATCCAGCCACTGAAAGGGAGTGCTCTGTGCAGTGAGCAAGCAAGTACTGACCCACGTGTAGCTCCCTCAATAAATTTGCACTCCAGCTTTAGAAATCCATCTCATGGCCGGGCGCGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGTGGATCAGGAGGTTAGGAGATGGAGATTATCCTGGCTAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGCGGGCGCCTGTAGTCCCAGCTACTCGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCTGGGGGCGGAGCTTGCAGTGAGTCGAGATCGCGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGATTTCGTCTCAAAAAAAAAAAAAGAAATCCATCTCATGCAAGTTTTGTTAAAGGAATCAGTTCCTCGGGCCTTGGCCTCCTCTGAGAGCACTGACATAAATCTGTCACTTAACTTGGGACAGGATGGAAGCTGCTGCCTCTTCTAGCCTCGTCCTCTCTGGCCTGCACTGCTGTGCAGCGGTGTCAGTGCAGGGGCATCTGTGGAGCTCAGCCTGCCCTGGATGTTCTCGTCTCCTCCCAGGGGACTTAAGACTCCACCTAAGGTTGCCAGCCTTTCAGTGGTAAGACATCTATGCAATCAACCCGAAGCCTTACCACCTGGCACTACTTCAGTGTATCCTTAGACTACCAGGAGGATCTCTGAGACTTGGTGGGGAATGGAACAGCTTGCTGCAATTTGTGGATGTAGATTCCGTATATTTTTGTCTCTTCCAAGAGACTGTAAACTCTTTGCTGACAAAGTCTGTGTCTTGATAGTTTAAAAGCAGTTTCCCAGTCTTACCCAAAAATGGCAGGAAGGGTGCCCAGAACGGCTGTTCCCTGCTTCCTCCTGGGTCTCTGCATGGGGGACGCTGGGACAGCCTCCCCACTCACTCTCTCTCTCTTTCTCCCCCGCCGCGCCCCGCAGTGGCGGCTCTGCAGACTGAGATGGAGAACTTGGCCCTGCATCTCTTCTACATGCAGAACATCGACCAGGACATGCGTGACGACATCCGCGTGATGACACAAGTGGTAAAGAAGGCCGAGACGGAGAGGATCCGGGCAGAAATCGAGAAGAAAAAGCAGGTATTCTGCAAACTCGACACATGTTTAATGATCACCAGACCGTGGAGCTTCAAAAAGGGGCTCAGCTTTGCCTCCTGCGTGAAGGCTTCCGGCCGGAGGGGTGGCGGCCGGCCTGGGTGGCGTCAACTTGTATCAAGGGTTGGTGGAGAACAGGCCCTCAGCCACGGGCACCTCCTGACGGGGCTGCTTCTCATCCTGTTTCCCAGGACCTGTATGTGGACCAGCTCACCACTCGAGCCCAGCAACTGGAAGAAGACATTGCCCTGTTTGAGGCTCAGTACTTGGCCCAAGCTGAGGACACCCGATTTTAAGGAAAGCAGTGAGTGAGGTAAAAGCAGTCCCCGCAGCTCTCAGTGTTCGACCCTCCAGTGAGTGTCCACGCACAGGGTGCTGGTGGGTCTACTAGACTGCACCTGCCCGTCTGCTGGATGAGTGACTGCAGCCAGCTTACATCTGCAAACATCGGGCCCTCCCCATGGTGGGGCCACAGTAGATACTGACAGGTGGACAGCCCGGATTCCTATTCCTTCCCTGGCTAGTGGGTGACAGAAGGCCTCGCAGGGTTCAGGTACTCTAGTCGCTTCATGACCGCCAAGGCCAGCTTGCTGCGGGGATGCTCAGCAAGTTCCTTAGCCTGCAGGGACCTCTTCCGGGGAGGACTGAAGTCTTTCTAACAATTCTCACCCCCGTGGGCAGCCGGCCTTCCGGGTAGCTCCTACATCTCTGCACCTCGTGGAGTAGGGAGTGGAGGGAACGAAGGGGGTGAAAGCTGCTCCCTCTTGGCCCCAGATTCAGGTCTGTAGTGGTAGCACCAGAAACCAAAGTTACTGCAACTTAAAAAAAAAAAAAAAAAAACTATGAGTCACCATCTTCATTCACGGGTGCGGGAATGACACGGAGGAAACAATTAACTTTTTTTTTTTTTGAGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAACCTCCGCCTCCCAGATTCAAGCAATTCTCCTGCCTCAGCCTCCAGAGTGGCTGGGACTACAGGCGCCCACCTCCATGCCCAGCTAATTTTTGTATTTTTAGTAAAAACAGGGTTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGACCTCAGGTGATCCACCCACCTCGGCCTCCCAAAGTCCTGGGATTACAGTCATGAGCCACCGTGCCCAGCCAATGAAAAAGAAGGAAGAGGACTTGAAGGAACGGATGAGCACGCTGGGCTCCCAGGGTAAAGGGAGGGCCCGGGGCTGGGCGTTACTCAGCACTGGTCTCTCCAGCTACAAATGCAATTAAAGTAGAGCACGTCCCAATCAGAATCTCAGGAACAAACAATCCCTTAGTTAACAAAACAATTCTGGAGTTTTATCTGAAAAATAAATTAGGAAGGCTAGCCAAGAATGGTTTTGGAAGAGAAGATTCAAACGGGGCAAGCAGCCATCCCAGTCTGCTCAGGACTGAGGGGTCCCCAAGACAAGGGACTTTCCATGCTAAGCCCAGGGGGTCCTGGACACAGCAGGATGGCAGATCACCCTAGCATCGCCGCACCAAATATTAAAGTATACAGTAAAGCTCTGGCCAGGCAAGGTGGTGCACACCTGTAATCCCAGCACTTGGGGAGGCTGAGGCAAGAGGATGGCTTGAGCCCAGAAGTTCAAGACCAGACTGGGCAACATGGTGAGACCCTGTCTCCACAAAAAAATAATAATTAAAAAAAAATAAAACATTAGCCCACCATGGTGGTGTGCACCTGTGGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGGATCACTTAAGCCCGGGAGGTCAAAAAAAAAAAAAGAACAACAACACTTTATTCTCAACGAATTGATTTTAAAGTTCACTTAGAAGACTAAATGCTCAAGAATACCCAAGAAAATTTTGAAAAGGAAGGATCATGAAAGATCCTTGAACTATGAAAGATCCAATGAAATATGATCATACCACTGCACTCCAGCCTGGGCTACGGAGCAAGACCCTGTCTAAAATAAAACAAAACCGTAAAGTTCTAGAGGCTAAAATAATGTGTCACAAGATAGACAGGCAAGACATTGAAGCCTATGAGAGAGCCCCAAAGCAAGCCAGAGTTTATATAAAAACCTAGTAGATTATAAATTACCAGAGAGCTAATGAATTATGCATCCAATGATGTCGGGACATTTGGTTAATCATTTGGGAAAAAATTAAATCTTTTCCTCATACCAGACACTAAAATAAATTCCAGATGGAATCAAGTATTTAAATGGGGGAAAATGTGCCAGACGAAAACAAATGAAAATATTTATATAATCCTGGGN | pathogenic | 284,964 |
Clinical classification of chromosome 17, position 80081958, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? Disease(s) if pathogenic? | benign | GCGAGACTCTGTCTCAAAAAAAAAAATACTGGATGGCCAGGCGCAGTGGCCCACACCTGTAATTCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAATCCCAGCTACTTGAGTGGCTTGAGGCTGCAGTGAGCTGAGATCATGCCATTGCACTCTAGCCTGGGTAACAGAGTGAGAGACTGTCTCAAAAAAAAAAAAAGAAAGAAAGGAATGAAAGGAATGTTTAAAGTACCGCAGAACATCTCAGAATAATAGGAAAACATGCCTCACACACACAAAATTCAAATCCTCATGCTGAGGCGTAAGAATGACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGGCAAGATCGTGCCTCTGCACTCCAACAAATACAGGATTTGAATCTGATTATTTCATTTGAATCAGTATTTTAGATCTGATTATCCGATATCTGTGTTTTAGAGCTTGACGTTAATTACAGGTATCTCATCGCAGCATGCCGAGGGGAAAGACAATAGAATTTGAAGTGGGCCCACTGGTGTTCCCTCAGCCACGCTGTTTCCTGCAGACCTTGGGCTAGTGATTGAAATGCTCTGAGTCTCAATGGCCACATCTGTAAAGCTGGACTATTTCCTTCCTAGGATTATTGTCATGGTTAAGGAAGGTGGGCAGATGAGAACCCCTAGCCCAACGTCTGACCCATGCGTCACTTTCCTTCTCCCCATAATCACAGTACAAAAGAGTTGTCAACTTGGGCTTTCAATAGATAATAGTTCTCTTGATCTATTTGAAAATAATAGTCAAGATTTGGCTATTGGCTGCAAAAATACAGTGAGGGAGAAGGAACAAGGCCCAGTGTTCAATAGCATGTCACAGTGACTACAGTTCACGGTAAGTTAGTGTATATTTCTGAATAGCTAGAGGAAAAGATTTGGAATGTTCTCAACACGAAGGAAGGATCATGTGTGAGGTGATAGATGGCCGGTTCCCCTGATTTGATCATGACATGCTGTATGCTTGTGTCAAAATATCGCATGTACCTCTCAAATATGTGCCAATCTATCCATAAAAATTTTTTAAAGATTTGGCTGCTATTAAAAGAGTTGGTTTCCTGCTGGGTGCAGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACATTGCTTGAGCTCAGGAGTTGGAGACCAGCCTGGGCAACACGGTGAAACCCCATCTCTACAAATAGAGTTTAAAAATTAGCCGGGCATGGTGGCGCACACCTGTAATCCCAGCCACTCAAGAGGTTGAGGCATGAGACTCGCTTGAACCCGGCAGGCGGAGGTTGCAGTGAACCGAGATCGCACCACTGTATTTCAGCCTGGGTTACAGAGTGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAGAGTTGGCTTCCTAATTTATTTCTCTGTGCATTGAGTTCGCCTTAGTGAGCTCCCTCGTGTGGGGCGCAGCTCTGTGCACTGGCTCTCTGATGTCTCACACGTAACTGGCTCTCCCCGCTGCATTTCTACAGAGGATGCCAGCATCAAGCCAAATCCACCGACGGCGAGATTGAGGCCTATAAGAAATCCATCATGAAGGAGGAAGAAAAGAACGAGAAGCTGGCGAGCATCCTGAACCGGACAGAGACGGAAGCCACACTGCTGCAGAAGCTCACCACCCAGTGCCTGACCAAGCAGGTGGCCCTGCAGAGCCAGTTCAATACCTACAGGCTCACCCTGCAGGACACAGAGGATGCCCTCAGCCAGGACCAGCTGGTGAGGCCGGGCCCGCCCCACAGGTCACACCTGGCGCACGGTGGTGCCTCTTCAGGCACGTGCACCCTGTGGCTCCTTGTCTCCAGGAACAAATGATACTCACGGAGGAGTTGCAGGCCATCCGCCAAGCCATCCAGGGCGAGCTGGAGCTCAGGAGGAAGACGGATGCTGCCATCCGGGAGAAGCTGCAGGAGCACATGACCTCCAACAAGACCACCAAATACTTCAACCAGCTCATCCTGAGGCTGCAGAAGGAGAAGACCAACATGGTAGGCCCCTGCCCCAGGGAGGGGCTGTGCGAAGCCCCCTGCAGCCTGGGCATATGAGGGCAAGCCGTCCTGGAGGCGGAGAGGGCGGAGTCAGTGTGAGCAGAGGGCCCTCCTGTGCTCACTCCTTTCCATGGTGTTCAGGTTGTAAGGGTGATACATTTTTACTGTAGAAAACCTAGAAATAGGCCAGGCGTGAGCCACCGCATGGCCAGCTGCCAGCCAAAGGCTGATTTCCCTGGGGGGACCTGGAGTGTGACTTCGACGTCCATGGCAGGGAACCCCCAATTGTGAGCTCATGTTCGCATCCCCTGGGATCTTGCTTTATCCTTTATCACCTGTGGTGGGGGTGGAGGGGACTTGTGTCCTTAGAAAAAACAATTCCTTACTTGAATTGTTTTTTCTTTGCCTCTTCCCGAGGGGTGACCGCCTCCCCAACACCCCGCCTCAAGCAGGCCCCTTTGGAGGACCCCCAGAGGCTACCACAGGCTCCACCATTTCCAGAGCACATCCTAGCAGTGGGGCCTGCCCAACAGTCCCCATTTTAGTCTCAGAGGAGGGTGACAGATTCCCGATGCCAAGCTCTGCCGGTTTTGCCCTCCTGAGGGGTGGGAAAGGAGCTGGCCAGGCAGAGCTGAAGGGCGTGGTGGGTGTGAAGGAGCCCATCCAGCCGTGCTGCTACCAGCCAAGTCCAGTTCCCAATCCCCAGGCCCCCGGGCCCCCGCCGAGCCCCTGTCTGGGCAGCCCGATAGGTCATACGTGTTTTGCTGCCAGTTTCCAGAAGAGGGCAGCAAAGAGTCTTGGACCAACACATTCGTCTATTACGACAATTTTCCAACCGATGCCAGTCCAGCTGCTGAAAAGAGTACCCCCGACACGATGTTTGAACTGCTCAAAGCCTCATGGGCTGATAGAAGGTGGGGTGGGGAGGCATATCTGGGAGGAGGAGCAAAGTGTGGATGGGCGGGACCACCCATCCGGAGCTGGGGTCAACCACGGGGTCCAGGCAGTTAATCCAGGGATGGTGTAGATGCCTAGGGGGAGCCAGGGTGGGCTCCACAGAGACCACAAACAGCCAGGAGTGGAGCGGGGGTGCAGGCCCGGCTGTGACGGGGAGGGACTGAAGGGGACTTGGAGCCATAGCCCCTGCAGGGCAGTTGGGGAGGGGGGAGGCAGGGAGTCCTTGGGGGGCCCAGATCTCAGGGTGAACTTGGCAGAGGAGGAGGCTGCGAGCTGACATTGCCACACAACTCCAGATGCCGGAAGCTTCCACTCCAGGTGGGCAGGGTCTGGGTTCCACCACCTGGGGACATTGGGTCTCCTGGGAAGCCGCCCGTGGTGGCCAGTGAGAGACATGGAGCCCACAGGCGTGGCGGGAGGAGAAGCTCAGATGGCCCTGAGGAGGCTGGGGTAGGCAGGAGCCACAGTCGTGAGAGAGCCAAGGCCTTGTGTGGCAGGAGCCGACGGGCAGGGGTGCTCAGGGCAGACACAGGGCCCGAGGCCACCTGTTAGAACCATGCCCTGGGGAAGAGGACCCTGTCCTGGTGGTGACAGCATCTCCCTGTTCCCAGAGCAGCTTTGGCCACACCATTGCAGCTGTGACTGCCACTGCCTCACTCCTGATTATCACAAACGTCCTCTCGATAAACCCCCCGTTGCCAGAAGGGATCCAAAGTCTGTCTAATGCCTCCAAAGAGCCCACAGAGGAGGCCAGCACTGGCGGCTCAGACCTGCCGGACAGCAGGAGGGGTCAGAACGCATGGAGGAACCAGTGTCTAACAATTGCTTCTTGCTTCATAAACTATGCTGCAAATGTGATAGAGTACAGCACAGCCATTACAGCTTACAGAGCACAGGAACATAAGACCCGACTTACCAGATTAAAAAGCAGGTTAGCACCCAGTGTGTAGGGTGTGATCCTATTTTTATTTTGGAGAATTATATAGAAAA | GCGAGACTCTGTCTCAAAAAAAAAAATACTGGATGGCCAGGCGCAGTGGCCCACACCTGTAATTCCAACACTTTGGGAGGCCGAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACAAAAATACAAAAATTAGCTGGGCATGGTGGCACACACCTGTAATCCCAGCTACTTGAGTGGCTTGAGGCTGCAGTGAGCTGAGATCATGCCATTGCACTCTAGCCTGGGTAACAGAGTGAGAGACTGTCTCAAAAAAAAAAAAAGAAAGAAAGGAATGAAAGGAATGTTTAAAGTACCGCAGAACATCTCAGAATAATAGGAAAACATGCCTCACACACACAAAATTCAAATCCTCATGCTGAGGCGTAAGAATGACTTGAACCCAGGAGGCAGAGGTTGCAGTGAGGCAAGATCGTGCCTCTGCACTCCAACAAATACAGGATTTGAATCTGATTATTTCATTTGAATCAGTATTTTAGATCTGATTATCCGATATCTGTGTTTTAGAGCTTGACGTTAATTACAGGTATCTCATCGCAGCATGCCGAGGGGAAAGACAATAGAATTTGAAGTGGGCCCACTGGTGTTCCCTCAGCCACGCTGTTTCCTGCAGACCTTGGGCTAGTGATTGAAATGCTCTGAGTCTCAATGGCCACATCTGTAAAGCTGGACTATTTCCTTCCTAGGATTATTGTCATGGTTAAGGAAGGTGGGCAGATGAGAACCCCTAGCCCAACGTCTGACCCATGCGTCACTTTCCTTCTCCCCATAATCACAGTACAAAAGAGTTGTCAACTTGGGCTTTCAATAGATAATAGTTCTCTTGATCTATTTGAAAATAATAGTCAAGATTTGGCTATTGGCTGCAAAAATACAGTGAGGGAGAAGGAACAAGGCCCAGTGTTCAATAGCATGTCACAGTGACTACAGTTCACGGTAAGTTAGTGTATATTTCTGAATAGCTAGAGGAAAAGATTTGGAATGTTCTCAACACGAAGGAAGGATCATGTGTGAGGTGATAGATGGCCGGTTCCCCTGATTTGATCATGACATGCTGTATGCTTGTGTCAAAATATCGCATGTACCTCTCAAATATGTGCCAATCTATCCATAAAAATTTTTTAAAGATTTGGCTGCTATTAAAAGAGTTGGTTTCCTGCTGGGTGCAGCGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCACATTGCTTGAGCTCAGGAGTTGGAGACCAGCCTGGGCAACACGGTGAAACCCCATCTCTACAAATAGAGTTTAAAAATTAGCCGGGCATGGTGGCGCACACCTGTAATCCCAGCCACTCAAGAGGTTGAGGCATGAGACTCGCTTGAACCCGGCAGGCGGAGGTTGCAGTGAACCGAGATCGCACCACTGTATTTCAGCCTGGGTTACAGAGTGAGACTCTGTCTCAAAAAATAAATAAATAAATAAATAAATAAGAGTTGGCTTCCTAATTTATTTCTCTGTGCATTGAGTTCGCCTTAGTGAGCTCCCTCGTGTGGGGCGCAGCTCTGTGCACTGGCTCTCTGATGTCTCACACGTAACTGGCTCTCCCCGCTGCATTTCTACAGAGGATGCCAGCATCAAGCCAAATCCACCGACGGCGAGATTGAGGCCTATAAGAAATCCATCATGAAGGAGGAAGAAAAGAACGAGAAGCTGGCGAGCATCCTGAACCGGACAGAGACGGAAGCCACACTGCTGCAGAAGCTCACCACCCAGTGCCTGACCAAGCAGGTGGCCCTGCAGAGCCAGTTCAATACCTACAGGCTCACCCTGCAGGACACAGAGGATGCCCTCAGCCAGGACCAGCTGGTGAGGCCGGGCCCGCCCCACAGGTCACACCTGGCGCACGGTGGTGCCTCTTCAGGCACGTGCACCCTGTGGCTCCTTGTCTCCAGGAACAAATGATACTCACGGAGGAGTTGCAGGCCATCCGCCAAGCCATCCAGGGCGAGCTGGAGCTCAGGAGGAAGACGGATGTGGCCATCCGGGAGAAGCTGCAGGAGCACATGACCTCCAACAAGACCACCAAATACTTCAACCAGCTCATCCTGAGGCTGCAGAAGGAGAAGACCAACATGGTAGGCCCCTGCCCCAGGGAGGGGCTGTGCGAAGCCCCCTGCAGCCTGGGCATATGAGGGCAAGCCGTCCTGGAGGCGGAGAGGGCGGAGTCAGTGTGAGCAGAGGGCCCTCCTGTGCTCACTCCTTTCCATGGTGTTCAGGTTGTAAGGGTGATACATTTTTACTGTAGAAAACCTAGAAATAGGCCAGGCGTGAGCCACCGCATGGCCAGCTGCCAGCCAAAGGCTGATTTCCCTGGGGGGACCTGGAGTGTGACTTCGACGTCCATGGCAGGGAACCCCCAATTGTGAGCTCATGTTCGCATCCCCTGGGATCTTGCTTTATCCTTTATCACCTGTGGTGGGGGTGGAGGGGACTTGTGTCCTTAGAAAAAACAATTCCTTACTTGAATTGTTTTTTCTTTGCCTCTTCCCGAGGGGTGACCGCCTCCCCAACACCCCGCCTCAAGCAGGCCCCTTTGGAGGACCCCCAGAGGCTACCACAGGCTCCACCATTTCCAGAGCACATCCTAGCAGTGGGGCCTGCCCAACAGTCCCCATTTTAGTCTCAGAGGAGGGTGACAGATTCCCGATGCCAAGCTCTGCCGGTTTTGCCCTCCTGAGGGGTGGGAAAGGAGCTGGCCAGGCAGAGCTGAAGGGCGTGGTGGGTGTGAAGGAGCCCATCCAGCCGTGCTGCTACCAGCCAAGTCCAGTTCCCAATCCCCAGGCCCCCGGGCCCCCGCCGAGCCCCTGTCTGGGCAGCCCGATAGGTCATACGTGTTTTGCTGCCAGTTTCCAGAAGAGGGCAGCAAAGAGTCTTGGACCAACACATTCGTCTATTACGACAATTTTCCAACCGATGCCAGTCCAGCTGCTGAAAAGAGTACCCCCGACACGATGTTTGAACTGCTCAAAGCCTCATGGGCTGATAGAAGGTGGGGTGGGGAGGCATATCTGGGAGGAGGAGCAAAGTGTGGATGGGCGGGACCACCCATCCGGAGCTGGGGTCAACCACGGGGTCCAGGCAGTTAATCCAGGGATGGTGTAGATGCCTAGGGGGAGCCAGGGTGGGCTCCACAGAGACCACAAACAGCCAGGAGTGGAGCGGGGGTGCAGGCCCGGCTGTGACGGGGAGGGACTGAAGGGGACTTGGAGCCATAGCCCCTGCAGGGCAGTTGGGGAGGGGGGAGGCAGGGAGTCCTTGGGGGGCCCAGATCTCAGGGTGAACTTGGCAGAGGAGGAGGCTGCGAGCTGACATTGCCACACAACTCCAGATGCCGGAAGCTTCCACTCCAGGTGGGCAGGGTCTGGGTTCCACCACCTGGGGACATTGGGTCTCCTGGGAAGCCGCCCGTGGTGGCCAGTGAGAGACATGGAGCCCACAGGCGTGGCGGGAGGAGAAGCTCAGATGGCCCTGAGGAGGCTGGGGTAGGCAGGAGCCACAGTCGTGAGAGAGCCAAGGCCTTGTGTGGCAGGAGCCGACGGGCAGGGGTGCTCAGGGCAGACACAGGGCCCGAGGCCACCTGTTAGAACCATGCCCTGGGGAAGAGGACCCTGTCCTGGTGGTGACAGCATCTCCCTGTTCCCAGAGCAGCTTTGGCCACACCATTGCAGCTGTGACTGCCACTGCCTCACTCCTGATTATCACAAACGTCCTCTCGATAAACCCCCCGTTGCCAGAAGGGATCCAAAGTCTGTCTAATGCCTCCAAAGAGCCCACAGAGGAGGCCAGCACTGGCGGCTCAGACCTGCCGGACAGCAGGAGGGGTCAGAACGCATGGAGGAACCAGTGTCTAACAATTGCTTCTTGCTTCATAAACTATGCTGCAAATGTGATAGAGTACAGCACAGCCATTACAGCTTACAGAGCACAGGAACATAAGACCCGACTTACCAGATTAAAAAGCAGGTTAGCACCCAGTGTGTAGGGTGTGATCCTATTTTTATTTTGGAGAATTATATAGAAAA | benign | 284,987 |
The mutation in gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) at chromosome 17, position 80086173—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | TACGATTTAAGAAGTGTGTTAGTCTGATCTCACACTGCTGTAGGAAATACCTAAGACTGGATAACTGATAAAGGAAAGAGGTTTAATTGACTGACAGTTCTGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGCAAAAGGCGAAACAGGCACCTCCTTCACAAGGCAGCAGGAGAGAGAGTGTGTGTGAAGCAGGAACCGTCAAACACACAAAACCATCAGATCTCATGAGAACTCACTATCATGAGAACAGCATGGGGGTAGCGGCCCCCATGGTCCAGTCACCTCCCACAGGGGCCCTCCCTTGACATGTGGGATTATGGGGACACAATTCAAGATGAGATGTGAGTGGGGACACAGCCAAACCACATCAATAAGAAAAGCTAATACCATGATCTCTCTTTTCTGTAAAAAGCCAACATCTGGGTTCCAACAAGTAGGTCCCTTGCTGGGTCCTGGAGACAGTGGGAAATCCAGCCTCCTGCACTCGTGACTGTGCGTTTGGAATATCTCCAGAGGAACATCCCGACCGTCAGGGAACGGTGGATCAGCAAACTCGTCCCGGGCCTTGGGTGGGGGCAATATTCACAGGTATTTCTTTTCATCAATTCAGATGACACATCTTTCCAAAATCAACGGTGACATTGCCCAGACCACCCTGGACATCACACACACCAGCAGCAGGCTGGACGCACACCAGAAGACCCTGGTGGAGCTGGACCAGGACGTGAAGAAAGTCAACGAGCTCATCACCAACAGCCAGAGCGAGATCTCCCGGCGCACGATCCTGATCGAGAGGAAGCAAGGGCTCATCAACTTCCTCAACAAGCAGCTGGAGCGGATGGTCTCCGAGCTGGGGGTGAGGTCCCAGGCAGGGAGACGTGGTCCCCGGCTGACTGTGGTGCCTGGTGGGGCAGAGCCCCCTCAGATCCCCCACGGTCAGACATGAACTCCTGGAAGGCACAGAACTGCCTCTTTCCCTACCTGCTTTACAGACAAAATGGCACGTGTGCCAAGCGCTCTAAGTCACATTTTTCTGCACAAGGCCAGAGAGTATTCCGGCTTTGTGGCCAGTTGGTCTCTCTGGCAGTGACACGGCTCTGCCTCCATAGCGAGAAGGAGCATAGGTAAAACGTAAAGGAATGGGCACGGCTGTGTCCAATCAGATGTTATTCAAGGCCACTGAAGTCTGAATTCCAAATAATTTTCACCCAGCACGAAATATTCTGCTGCTCTAAGAAAAGTGGCCTAATGCGTTTGAGGCCTGATGCCATATACGTCATCCAGGTCCCTGTACTCTCAAAGCCCCTTTGGGTTCCAGAGGCCCCACCCACCCTGCCAGCGCACCCACCATGGGGAAGCTAGAGGGGGCTCCAGAGCCCCTTAGCCATATTTCCTCCAGCGGGGTCTGTGGCTTGCGGCCCTGCTGAGAGCTAACTTGAGCCCCTCGGCCTTCGTCCAGTTTCATGACCTCAGGGTTCCAGGCCCTCTGCAGCCCACTCACAAAGACCTTTGAGCCCAAGAAGGCTAATTTTGCTTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGCTCACTGCACATCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACCACAGGTGTGCACCAGCACACCTGGCTAATTTTTGTATTTTGGGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTCACTGCGCCCAGCCCTAATTTTGCTTTTTGATGAATATCCGGTCTAGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGCACGCAGCCTTAAAAGCAAATAACAAACGCGCATGCTCCCTGTATTTTGTAAATGTGAACCACTGCCTGCCCAGCTGCCCAGTTCGCAGTCACAGCGGGAGGGTTGAGAAATGTCACGAAATGGCTCCAAGCTCACGGACTTCAGAGCTCTCCTTGAGAGAGGAGCATGGAAGGTTATCATCCCCGCCAAGCCAGGGCACTCAGGTGGAAACACTGGCACGGGAAAAGCCAGGGTCCTGCCAGGCAGGCTCCTGGTGCTGTCCCCACATCACCTCCAGTTGGGCTTAGAAAACCATTCCACCGGGGCTCCCCAACCCTTCTGAGGCCCAAGGGGCTGCCAAAGCACCAGGGTGCCTGGAATGATGGAGGCGGGCATCCTTCCTGGACCACTCTCCACCCACATGTCCACCTGCCGAGACATCCCGGGTCCTGCCCGGTCTTGGGTCGGGGATCCATGCTGGTCAGGCCTGCAGCAGAGCCCCCATGGGAAATGCTGCCCAGACACATCATGTGCCCTTCTCGGAGGTCCTGCTGCCTCTCGCCCTGCCCTTCTTGGGTTGCCCAAACCCGTCTGTTGGTGAGTAGCAAGTCCCAAAAGACCCTATGGAGCTGTCAGCTGAGTATCGGTGTCCCAAGGCAAGAGCTGCCGAAATACCATGCTGTGAGATGGGGAGGATCACCCATGGAGAGGGCAGAGAGAGGGGCTCACATGCCCATGTCCTGGGGTAGTCAGGGCACACCATGGGGACAGCAGGAGGAGCTGGAGAAGCCCTGTGAGGAGTGGCCAGCGGATGAACCAGCTGTGGCCTCTTGTGCCCTCCACCCATCTTAACATCAAGAAGAGCTGTTGTTTTCTGCCCCTACCCCTGAGCTTGGCTGGGGCAGGGCAGGGGTCTAAGGGCCTCCCTCTCCTGGAGACTCACAGTGTCTGAGCATCAACCAGGTCCCGGTGCTCCACAGATTTGCAAGTGTCTGGGGGAGGGAGCCTGGCCCTCCCACACGCCCTGCCCACACCTGCTGGCTGTCCCCACAGGCAGGTCCTCTCAGTTCCGTTGGAGGACCAGGCTTTGGGAGCTTAGCAGCCAAAAAGAGACCCCCTGTCCTCTCCTCTCCTCTGTCCTGGCAGGGACGAGATTCAGGCAGGAGCGCCAGGAACGACAAGAGGGAGGGGATGAAGGGAGCTACAGGGAGAGACAAAACCTGGCTCACCTCTCGGACACTGCTGCCTGCGGGCGAGGACCCGTACCCTCCTGGGGTCTCTCCCTGAGTCTCTGTTTTCTGCCATAGGCAAGATTGAGCAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTGAAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAACAACCGGGTGACAGAGAATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCT | TACGATTTAAGAAGTGTGTTAGTCTGATCTCACACTGCTGTAGGAAATACCTAAGACTGGATAACTGATAAAGGAAAGAGGTTTAATTGACTGACAGTTCTGCATGGCTGGGGAGGCCTCAGGAAACTTACAATCATGGCAAAAGGCGAAACAGGCACCTCCTTCACAAGGCAGCAGGAGAGAGAGTGTGTGTGAAGCAGGAACCGTCAAACACACAAAACCATCAGATCTCATGAGAACTCACTATCATGAGAACAGCATGGGGGTAGCGGCCCCCATGGTCCAGTCACCTCCCACAGGGGCCCTCCCTTGACATGTGGGATTATGGGGACACAATTCAAGATGAGATGTGAGTGGGGACACAGCCAAACCACATCAATAAGAAAAGCTAATACCATGATCTCTCTTTTCTGTAAAAAGCCAACATCTGGGTTCCAACAAGTAGGTCCCTTGCTGGGTCCTGGAGACAGTGGGAAATCCAGCCTCCTGCACTCGTGACTGTGCGTTTGGAATATCTCCAGAGGAACATCCCGACCGTCAGGGAACGGTGGATCAGCAAACTCGTCCCGGGCCTTGGGTGGGGGCAATATTCACAGGTATTTCTTTTCATCAATTCAGATGACACATCTTTCCAAAATCAACGGTGACATTGCCCAGACCACCCTGGACATCACACACACCAGCAGCAGGCTGGACGCACACCAGAAGACCCTGGTGGAGCTGGACCAGGACGTGAAGAAAGTCAACGAGCTCATCACCAACAGCCAGAGCGAGATCTCCCGGCGCACGATCCTGATCGAGAGGAAGCAAGGGCTCATCAACTTCCTCAACAAGCAGCTGGAGCGGATGGTCTCCGAGCTGGGGGTGAGGTCCCAGGCAGGGAGACGTGGTCCCCGGCTGACTGTGGTGCCTGGTGGGGCAGAGCCCCCTCAGATCCCCCACGGTCAGACATGAACTCCTGGAAGGCACAGAACTGCCTCTTTCCCTACCTGCTTTACAGACAAAATGGCACGTGTGCCAAGCGCTCTAAGTCACATTTTTCTGCACAAGGCCAGAGAGTATTCCGGCTTTGTGGCCAGTTGGTCTCTCTGGCAGTGACACGGCTCTGCCTCCATAGCGAGAAGGAGCATAGGTAAAACGTAAAGGAATGGGCACGGCTGTGTCCAATCAGATGTTATTCAAGGCCACTGAAGTCTGAATTCCAAATAATTTTCACCCAGCACGAAATATTCTGCTGCTCTAAGAAAAGTGGCCTAATGCGTTTGAGGCCTGATGCCATATACGTCATCCAGGTCCCTGTACTCTCAAAGCCCCTTTGGGTTCCAGAGGCCCCACCCACCCTGCCAGCGCACCCACCATGGGGAAGCTAGAGGGGGCTCCAGAGCCCCTTAGCCATATTTCCTCCAGCGGGGTCTGTGGCTTGCGGCCCTGCTGAGAGCTAACTTGAGCCCCTCGGCCTTCGTCCAGTTTCATGACCTCAGGGTTCCAGGCCCTCTGCAGCCCACTCACAAAGACCTTTGAGCCCAAGAAGGCTAATTTTGCTTTTTTTTTTTTTTTTTTTTTCTGAGACGGAGTCTTGCTCTATTGCCCAGGCTGGAGTGCAGTGGTGCCATCTTGCTCACTGCACATCTGCCTCCTGAGTTCAAGCGATTCTCCTGCCTCAGCCTTCCAAGTAGCTGGGACCACAGGTGTGCACCAGCACACCTGGCTAATTTTTGTATTTTGGGTAGAGACGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGGGTGATCCACCCGCCTCAGCCTCCCAAAGTGCTGGAATTACAGGCGTGAGTCACTGCGCCCAGCCCTAATTTTGCTTTTTGATGAATATCCGGTCTAGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGCACGCAGCCTTAAAAGCAAATAACAAACGCGCATGCTCCCTGTATTTTGTAAATGTGAACCACTGCCTGCCCAGCTGCCCAGTTCGCAGTCACAGCGGGAGGGTTGAGAAATGTCACGAAATGGCTCCAAGCTCACGGACTTCAGAGCTCTCCTTGAGAGAGGAGCATGGAAGGTTATCATCCCCGCCAAGCCAGGGCACTCAGGTGGAAACACTGGCACGGGAAAAGCCAGGGTCCTGCCAGGCAGGCTCCTGGTGCTGTCCCCACATCACCTCCAGTTGGGCTTAGAAAACCATTCCACCGGGGCTCCCCAACCCTTCTGAGGCCCAAGGGGCTGCCAAAGCACCAGGGTGCCTGGAATGATGGAGGCGGGCATCCTTCCTGGACCACTCTCCACCCACATGTCCACCTGCCGAGACATCCCGGGTCCTGCCCGGTCTTGGGTCGGGGATCCATGCTGGTCAGGCCTGCAGCAGAGCCCCCATGGGAAATGCTGCCCAGACACATCATGTGCCCTTCTCGGAGGTCCTGCTGCCTCTCGCCCTGCCCTTCTTGGGTTGCCCAAACCCGTCTGTTGGTGAGTAGCAAGTCCCAAAAGACCCTATGGAGCTGTCAGCTGAGTATCGGTGTCCCAAGGCAAGAGCTGCCGAAATACCATGCTGTGAGATGGGGAGGATCACCCATGGAGAGGGCAGAGAGAGGGGCTCACATGCCCATGTCCTGGGGTAGTCAGGGCACACCATGGGGACAGCAGGAGGAGCTGGAGAAGCCCTGTGAGGAGTGGCCAGCGGATGAACCAGCTGTGGCCTCTTGTGCCCTCCACCCATCTTAACATCAAGAAGAGCTGTTGTTTTCTGCCCCTACCCCTGAGCTTGGCTGGGGCAGGGCAGGGGTCTAAGGGCCTCCCTCTCCTGGAGACTCACAGTGTCTGAGCATCAACCAGGTCCCGGTGCTCCACAGATTTGCAAGTGTCTGGGGGAGGGAGCCTGGCCCTCCCACACGCCCTGCCCACACCTGCTGGCTGTCCCCACAGGCAGGTCCTCTCAGTTCCGTTGGAGGACCAGGCTTTGGGAGCTTAGCAGCCAAAAAGAGACCCCCTGTCCTCTCCTCTCCTCTGTCCTGGCAGGGACGAGATTCAGGCAGGAGCGCCAGGAACGACAAGAGGGAGGGGATGAAGGGAGCTACAGGGAGAGACAAAACCTGGCTCACCTCTCGGACACTGCTGCCTGCGGGCGAGGACCCGTACCCTCCTGGGGTCTCTCCCTGAGTCTCTGTTTTCTGCCATAGGCAAGATTGAGCAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTGAAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAACAACCGGGTGACAGAGAATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTN | pathogenic | 284,997 |
Regarding the variant at chromosome 17 and position 80088049, affecting gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Primary_ciliary_dyskinesia'] | AGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGCACGCAGCCTTAAAAGCAAATAACAAACGCGCATGCTCCCTGTATTTTGTAAATGTGAACCACTGCCTGCCCAGCTGCCCAGTTCGCAGTCACAGCGGGAGGGTTGAGAAATGTCACGAAATGGCTCCAAGCTCACGGACTTCAGAGCTCTCCTTGAGAGAGGAGCATGGAAGGTTATCATCCCCGCCAAGCCAGGGCACTCAGGTGGAAACACTGGCACGGGAAAAGCCAGGGTCCTGCCAGGCAGGCTCCTGGTGCTGTCCCCACATCACCTCCAGTTGGGCTTAGAAAACCATTCCACCGGGGCTCCCCAACCCTTCTGAGGCCCAAGGGGCTGCCAAAGCACCAGGGTGCCTGGAATGATGGAGGCGGGCATCCTTCCTGGACCACTCTCCACCCACATGTCCACCTGCCGAGACATCCCGGGTCCTGCCCGGTCTTGGGTCGGGGATCCATGCTGGTCAGGCCTGCAGCAGAGCCCCCATGGGAAATGCTGCCCAGACACATCATGTGCCCTTCTCGGAGGTCCTGCTGCCTCTCGCCCTGCCCTTCTTGGGTTGCCCAAACCCGTCTGTTGGTGAGTAGCAAGTCCCAAAAGACCCTATGGAGCTGTCAGCTGAGTATCGGTGTCCCAAGGCAAGAGCTGCCGAAATACCATGCTGTGAGATGGGGAGGATCACCCATGGAGAGGGCAGAGAGAGGGGCTCACATGCCCATGTCCTGGGGTAGTCAGGGCACACCATGGGGACAGCAGGAGGAGCTGGAGAAGCCCTGTGAGGAGTGGCCAGCGGATGAACCAGCTGTGGCCTCTTGTGCCCTCCACCCATCTTAACATCAAGAAGAGCTGTTGTTTTCTGCCCCTACCCCTGAGCTTGGCTGGGGCAGGGCAGGGGTCTAAGGGCCTCCCTCTCCTGGAGACTCACAGTGTCTGAGCATCAACCAGGTCCCGGTGCTCCACAGATTTGCAAGTGTCTGGGGGAGGGAGCCTGGCCCTCCCACACGCCCTGCCCACACCTGCTGGCTGTCCCCACAGGCAGGTCCTCTCAGTTCCGTTGGAGGACCAGGCTTTGGGAGCTTAGCAGCCAAAAAGAGACCCCCTGTCCTCTCCTCTCCTCTGTCCTGGCAGGGACGAGATTCAGGCAGGAGCGCCAGGAACGACAAGAGGGAGGGGATGAAGGGAGCTACAGGGAGAGACAAAACCTGGCTCACCTCTCGGACACTGCTGCCTGCGGGCGAGGACCCGTACCCTCCTGGGGTCTCTCCCTGAGTCTCTGTTTTCTGCCATAGGCAAGATTGAGCAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTGAAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAACAACCGGGTGACAGAGAATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCC | AGGGGGAAGAAGTGGGGCCCCTGGAGCTTGAAATCAAAAGGCTGAGCAAGCTGATCGACGAGCACGATGGCAAGGCGGTCCAGGCCCAGGTGACCTGGCTGCGCCTGCAGCAGGAGATGGTCAAGGTGACACAGGAGCAGGAGGAGCAGCTGGCCTCCCTGGACGCATCCAAGAAGGAGCTCCACATCATGGAGCAGAAGAAACTACGAGTAGAAAGTAAGAGCCGCCGTGCCCGGCCCTGCAGTGATGCTGAGACGAGCTCTGGGACGTGGGCACCTCCCAGGGGAGGGGCACTCAGTGGGGCACGTCGCTGGATTTGCACGCAGCCTTAAAAGCAAATAACAAACGCGCATGCTCCCTGTATTTTGTAAATGTGAACCACTGCCTGCCCAGCTGCCCAGTTCGCAGTCACAGCGGGAGGGTTGAGAAATGTCACGAAATGGCTCCAAGCTCACGGACTTCAGAGCTCTCCTTGAGAGAGGAGCATGGAAGGTTATCATCCCCGCCAAGCCAGGGCACTCAGGTGGAAACACTGGCACGGGAAAAGCCAGGGTCCTGCCAGGCAGGCTCCTGGTGCTGTCCCCACATCACCTCCAGTTGGGCTTAGAAAACCATTCCACCGGGGCTCCCCAACCCTTCTGAGGCCCAAGGGGCTGCCAAAGCACCAGGGTGCCTGGAATGATGGAGGCGGGCATCCTTCCTGGACCACTCTCCACCCACATGTCCACCTGCCGAGACATCCCGGGTCCTGCCCGGTCTTGGGTCGGGGATCCATGCTGGTCAGGCCTGCAGCAGAGCCCCCATGGGAAATGCTGCCCAGACACATCATGTGCCCTTCTCGGAGGTCCTGCTGCCTCTCGCCCTGCCCTTCTTGGGTTGCCCAAACCCGTCTGTTGGTGAGTAGCAAGTCCCAAAAGACCCTATGGAGCTGTCAGCTGAGTATCGGTGTCCCAAGGCAAGAGCTGCCGAAATACCATGCTGTGAGATGGGGAGGATCACCCATGGAGAGGGCAGAGAGAGGGGCTCACATGCCCATGTCCTGGGGTAGTCAGGGCACACCATGGGGACAGCAGGAGGAGCTGGAGAAGCCCTGTGAGGAGTGGCCAGCGGATGAACCAGCTGTGGCCTCTTGTGCCCTCCACCCATCTTAACATCAAGAAGAGCTGTTGTTTTCTGCCCCTACCCCTGAGCTTGGCTGGGGCAGGGCAGGGGTCTAAGGGCCTCCCTCTCCTGGAGACTCACAGTGTCTGAGCATCAACCAGGTCCCGGTGCTCCACAGATTTGCAAGTGTCTGGGGGAGGGAGCCTGGCCCTCCCACACGCCCTGCCCACACCTGCTGGCTGTCCCCACAGGCAGGTCCTCTCAGTTCCGTTGGAGGACCAGGCTTTGGGAGCTTAGCAGCCAAAAAGAGACCCCCTGTCCTCTCCTCTCCTCTGTCCTGGCAGGGACGAGATTCAGGCAGGAGCGCCAGGAACGACAAGAGGGAGGGGATGAAGGGAGCTACAGGGAGAGACAAAACCTGGCTCACCTCTCGGACACTGCTGCCTGCGGGCGAGGACCCGTACCCTCCTGGGGTCTCTCCCTGAGTCTCTGTTTTCTGCCATAGGCAAGATTGAGCAGGAGAAGAAGGAGCAGAAGGAGATCGAGCACCACATGAAGGACCTGGACAACGACCTGAAGAAGCTCAACATGTTGATGAATAAAAACCGGTGCAGCTCGGAGGAGCTGGAGCAGAACAACCGGGTGACAGAGAATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCC | pathogenic | 285,010 |
Gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) variant at chromosome 17, position 80089802—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | ATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCCCCTTGACCCAGCTTTTACCACACGCTTGCTTTTAATGTGCAGAAATATTGCAGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGTCATCTCACAAAACGCTGTTTTATTCCTACTCCATGTAATCACAGCACGCTGGTATTTTTAAATGCCGGTTGTAACCCTCAAACTTTGTGACCCTCTAACGTATCCCACTGTGAGACAGTCTCACACCACAGAAGGGCTCAGAGAGCACCCCCATCTCATCCTTCACAGCCGCGTTGTCTCTCCATGGTCACAATTAGATTTCATTGCCTTTAAAAGGCTGGTAATTAAATTGCAAGTGGTCATCAAGCTAAAGGTTCAGGGCCTTAAGGATAACAGTAAGAGCAGTTCATAAAATAAATGGGCCTCACTTTCACCATGCCATGCTAAATAGAAATTCCTCTGCTGAGTTATTTTTCAGATCAAGTGCATATGCTAATAAGATGTTGTGTTTAAAAATACCAAATTTAATTGACTTTTCATATTACAGAAGCCACATGTATTTGCTGGAGCAAGACAAGCTCTCCTCCACAGAGTGGGGGCCAAAGAGAAGGTCCGGGCTGCTCCTCCCTGTCCCTTCTTCCCCGGCTCCCCCTCCTCAGCCAGGGCGACTGTGTCAGCCGCTGCAGGGATAAGGCCTCTCACCTTCTCGGATCTCACACAAATGCACAGGCAGGGCTTGCCTTGGCCCTACATGGTTACTAACCCATTCTTTAACAGTTACAATATATACTATGGATATTTCACAATTTATTGATCCAGTCCCAGGTTGGTGAAAATTCAGGTTGTTTCCAATTTGTTGTTGGTGTTATTGTTTTGTCCTAGACACAATGTGTGTTAGGGTTCTCCAAAGAAACAGAACCAGTAGACTACACACACACACACACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAAAGAAAGAGAGATTTACTATGAGAATTGGCTCTTATGATTATGAGGGCCGAGAAGTCCTAGTATCCGGCATCTAATCTGCAGACCCAGGAGAGCCCATGATTCAGTCAAGTCTAAGACCTGAGAAGGAGGCAACGGTGTCATCCCAGCCCAGTGTTCCCCCACCCCCACCCCGTCCCACCACCTTCTTCTGCCTTTTCTCCTCAGGCCCTCAACAGATTGGATGATGTCACCCAGCCTGGCAAGAGGGATCTTTACTCTGTTCAAATGCCAATCATTTCCAGGGACACCCTCACAGTTCTACCCAAAACAGAAATCATGTTTTTCCAGCTATCCAGGCATTCCTTAGCCCAGTTAGGTTAACCCAAAATCAGCCATCACACAGCATTATAATCACATCCTTCCTTACTGGTTCTTTTTTTTTTCTTCTAGACTATGTTCCCAAAGGTGAGATTACTAGGTCAAAGGGTGTATAAATTCTGACTGTAACAG | ATGAGTTCGTGCGCTCGCTGAAGGTCCGGCCGTGTCCACGCAGTCCCGGGGCTCAGGACGATGGAGGGCGGGGGTACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCCCCTTGACCCAGCTTTTACCACACGCTTGCTTTTAATGTGCAGAAATATTGCAGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGTCATCTCACAAAACGCTGTTTTATTCCTACTCCATGTAATCACAGCACGCTGGTATTTTTAAATGCCGGTTGTAACCCTCAAACTTTGTGACCCTCTAACGTATCCCACTGTGAGACAGTCTCACACCACAGAAGGGCTCAGAGAGCACCCCCATCTCATCCTTCACAGCCGCGTTGTCTCTCCATGGTCACAATTAGATTTCATTGCCTTTAAAAGGCTGGTAATTAAATTGCAAGTGGTCATCAAGCTAAAGGTTCAGGGCCTTAAGGATAACAGTAAGAGCAGTTCATAAAATAAATGGGCCTCACTTTCACCATGCCATGCTAAATAGAAATTCCTCTGCTGAGTTATTTTTCAGATCAAGTGCATATGCTAATAAGATGTTGTGTTTAAAAATACCAAATTTAATTGACTTTTCATATTACAGAAGCCACATGTATTTGCTGGAGCAAGACAAGCTCTCCTCCACAGAGTGGGGGCCAAAGAGAAGGTCCGGGCTGCTCCTCCCTGTCCCTTCTTCCCCGGCTCCCCCTCCTCAGCCAGGGCGACTGTGTCAGCCGCTGCAGGGATAAGGCCTCTCACCTTCTCGGATCTCACACAAATGCACAGGCAGGGCTTGCCTTGGCCCTACATGGTTACTAACCCATTCTTTAACAGTTACAATATATACTATGGATATTTCACAATTTATTGATCCAGTCCCAGGTTGGTGAAAATTCAGGTTGTTTCCAATTTGTTGTTGGTGTTATTGTTTTGTCCTAGACACAATGTGTGTTAGGGTTCTCCAAAGAAACAGAACCAGTAGACTACACACACACACACACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAAAGAAAGAGAGATTTACTATGAGAATTGGCTCTTATGATTATGAGGGCCGAGAAGTCCTAGTATCCGGCATCTAATCTGCAGACCCAGGAGAGCCCATGATTCAGTCAAGTCTAAGACCTGAGAAGGAGGCAACGGTGTCATCCCAGCCCAGTGTTCCCCCACCCCCACCCCGTCCCACCACCTTCTTCTGCCTTTTCTCCTCAGGCCCTCAACAGATTGGATGATGTCACCCAGCCTGGCAAGAGGGATCTTTACTCTGTTCAAATGCCAATCATTTCCAGGGACACCCTCACAGTTCTACCCAAAACAGAAATCATGTTTTTCCAGCTATCCAGGCATTCCTTAGCCCAGTTAGGTTAACCCAAAATCAGCCATCACACAGCATTATAATCACATCCTTCCTTACTGGTTCTTTTTTTTTTCTTCTAGACTATGTTCCCAAAGGTGAGATTACTAGGTCAAAGGGTGTATAAATTCTGACTGTAACAGNN | pathogenic | 285,016 |
Benign or pathogenic: chromosome 17, position 80089876, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) variant? Disease(s) if pathogenic? | pathogenic; ['Kartagener_syndrome', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | TACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCCCCTTGACCCAGCTTTTACCACACGCTTGCTTTTAATGTGCAGAAATATTGCAGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGTCATCTCACAAAACGCTGTTTTATTCCTACTCCATGTAATCACAGCACGCTGGTATTTTTAAATGCCGGTTGTAACCCTCAAACTTTGTGACCCTCTAACGTATCCCACTGTGAGACAGTCTCACACCACAGAAGGGCTCAGAGAGCACCCCCATCTCATCCTTCACAGCCGCGTTGTCTCTCCATGGTCACAATTAGATTTCATTGCCTTTAAAAGGCTGGTAATTAAATTGCAAGTGGTCATCAAGCTAAAGGTTCAGGGCCTTAAGGATAACAGTAAGAGCAGTTCATAAAATAAATGGGCCTCACTTTCACCATGCCATGCTAAATAGAAATTCCTCTGCTGAGTTATTTTTCAGATCAAGTGCATATGCTAATAAGATGTTGTGTTTAAAAATACCAAATTTAATTGACTTTTCATATTACAGAAGCCACATGTATTTGCTGGAGCAAGACAAGCTCTCCTCCACAGAGTGGGGGCCAAAGAGAAGGTCCGGGCTGCTCCTCCCTGTCCCTTCTTCCCCGGCTCCCCCTCCTCAGCCAGGGCGACTGTGTCAGCCGCTGCAGGGATAAGGCCTCTCACCTTCTCGGATCTCACACAAATGCACAGGCAGGGCTTGCCTTGGCCCTACATGGTTACTAACCCATTCTTTAACAGTTACAATATATACTATGGATATTTCACAATTTATTGATCCAGTCCCAGGTTGGTGAAAATTCAGGTTGTTTCCAATTTGTTGTTGGTGTTATTGTTTTGTCCTAGACACAATGTGTGTTAGGGTTCTCCAAAGAAACAGAACCAGTAGACTACACACACACACACACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAAAGAAAGAGAGATTTACTATGAGAATTGGCTCTTATGATTATGAGGGCCGAGAAGTCCTAGTATCCGGCATCTAATCTGCAGACCCAGGAGAGCCCATGATTCAGTCAAGTCTAAGACCTGAGAAGGAGGCAACGGTGTCATCCCAGCCCAGTGTTCCCCCACCCCCACCCCGTCCCACCACCTTCTTCTGCCTTTTCTCCTCAGGCCCTCAACAGATTGGATGATGTCACCCAGCCTGGCAAGAGGGATCTTTACTCTGTTCAAATGCCAATCATTTCCAGGGACACCCTCACAGTTCTACCCAAAACAGAAATCATGTTTTTCCAGCTATCCAGGCATTCCTTAGCCCAGTTAGGTTAACCCAAAATCAGCCATCACACAGCATTATAATCACATCCTTCCTTACTGGTTCTTTTTTTTTTCTTCTAGACTATGTTCCCAAAGGTGAGATTACTAGGTCAAAGGGTGTATAAATTCTGACTGTAACAGCCTGACAGATTACTTGTCTAAAAAGCACATGGCGGCAGTCATATCTGTACCTTCTTCTCAGTTCTGGTGTTATT | TACGGTCCTTGCGGTGGGCGTTCTGCACCAGGATGTAATTTCCACACCCGTTCAAGATGCTTGTAGGGGTATTAGAAATCCAGCCTGCAGCCCTGCCCTCGGTGCCGGGATAGAGGGCACCAGCCCCGGCATCCACAATCCCATGGCCCTCCCCACAGCTGTCCCGCCCCCTCCCCCATGCAGGCCTCTGAGAGGGAGACCATCAAGATGCAGGACAAGCTGAACCAGCTCAGCGAGGAGAAGGCGACCCTCCTGAATCAACTGGTGGAAGCAGAGTGAGTCCCAGTCTCCAGCCACACGTGGGTCATGAAGGTCACTGCACCTACAGGCCTCTGTCCGTTGAAGACCATGTAGGAGGCCAGGTGTGGCAGCTCACACCCATATCCCAGTGCTTTGGTCATTTTTTGTTGTTGTTTTGTTTTTTGTTTTGTTTTGTTTTGTTTTTAGACAGTCTTGCTCTATCCCACAGGCTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACACTGTGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCCCCTTGACCCAGCTTTTACCACACGCTTGCTTTTAATGTGCAGAAATATTGCAGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGTCATCTCACAAAACGCTGTTTTATTCCTACTCCATGTAATCACAGCACGCTGGTATTTTTAAATGCCGGTTGTAACCCTCAAACTTTGTGACCCTCTAACGTATCCCACTGTGAGACAGTCTCACACCACAGAAGGGCTCAGAGAGCACCCCCATCTCATCCTTCACAGCCGCGTTGTCTCTCCATGGTCACAATTAGATTTCATTGCCTTTAAAAGGCTGGTAATTAAATTGCAAGTGGTCATCAAGCTAAAGGTTCAGGGCCTTAAGGATAACAGTAAGAGCAGTTCATAAAATAAATGGGCCTCACTTTCACCATGCCATGCTAAATAGAAATTCCTCTGCTGAGTTATTTTTCAGATCAAGTGCATATGCTAATAAGATGTTGTGTTTAAAAATACCAAATTTAATTGACTTTTCATATTACAGAAGCCACATGTATTTGCTGGAGCAAGACAAGCTCTCCTCCACAGAGTGGGGGCCAAAGAGAAGGTCCGGGCTGCTCCTCCCTGTCCCTTCTTCCCCGGCTCCCCCTCCTCAGCCAGGGCGACTGTGTCAGCCGCTGCAGGGATAAGGCCTCTCACCTTCTCGGATCTCACACAAATGCACAGGCAGGGCTTGCCTTGGCCCTACATGGTTACTAACCCATTCTTTAACAGTTACAATATATACTATGGATATTTCACAATTTATTGATCCAGTCCCAGGTTGGTGAAAATTCAGGTTGTTTCCAATTTGTTGTTGGTGTTATTGTTTTGTCCTAGACACAATGTGTGTTAGGGTTCTCCAAAGAAACAGAACCAGTAGACTACACACACACACACACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAAAGAAAGAGAGATTTACTATGAGAATTGGCTCTTATGATTATGAGGGCCGAGAAGTCCTAGTATCCGGCATCTAATCTGCAGACCCAGGAGAGCCCATGATTCAGTCAAGTCTAAGACCTGAGAAGGAGGCAACGGTGTCATCCCAGCCCAGTGTTCCCCCACCCCCACCCCGTCCCACCACCTTCTTCTGCCTTTTCTCCTCAGGCCCTCAACAGATTGGATGATGTCACCCAGCCTGGCAAGAGGGATCTTTACTCTGTTCAAATGCCAATCATTTCCAGGGACACCCTCACAGTTCTACCCAAAACAGAAATCATGTTTTTCCAGCTATCCAGGCATTCCTTAGCCCAGTTAGGTTAACCCAAAATCAGCCATCACACAGCATTATAATCACATCCTTCCTTACTGGTTCTTTTTTTTTTCTTCTAGACTATGTTCCCAAAGGTGAGATTACTAGGTCAAAGGGTGTATAAATTCTGACTGTAACAGCCTGACAGATTACTTGTCTAAAAAGCACATGGCGGCAGTCATATCTGTACCTTCTTCTCAGTTCTGGTGT | pathogenic | 285,019 |
Clinical significance of chromosome 17, position 80090346, gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit): benign or pathogenic? Name the disease(s) if pathogenic. | benign | CTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCCCCTTGACCCAGCTTTTACCACACGCTTGCTTTTAATGTGCAGAAATATTGCAGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAAGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGTCATCTCACAAAACGCTGTTTTATTCCTACTCCATGTAATCACAGCACGCTGGTATTTTTAAATGCCGGTTGTAACCCTCAAACTTTGTGACCCTCTAACGTATCCCACTGTGAGACAGTCTCACACCACAGAAGGGCTCAGAGAGCACCCCCATCTCATCCTTCACAGCCGCGTTGTCTCTCCATGGTCACAATTAGATTTCATTGCCTTTAAAAGGCTGGTAATTAAATTGCAAGTGGTCATCAAGCTAAAGGTTCAGGGCCTTAAGGATAACAGTAAGAGCAGTTCATAAAATAAATGGGCCTCACTTTCACCATGCCATGCTAAATAGAAATTCCTCTGCTGAGTTATTTTTCAGATCAAGTGCATATGCTAATAAGATGTTGTGTTTAAAAATACCAAATTTAATTGACTTTTCATATTACAGAAGCCACATGTATTTGCTGGAGCAAGACAAGCTCTCCTCCACAGAGTGGGGGCCAAAGAGAAGGTCCGGGCTGCTCCTCCCTGTCCCTTCTTCCCCGGCTCCCCCTCCTCAGCCAGGGCGACTGTGTCAGCCGCTGCAGGGATAAGGCCTCTCACCTTCTCGGATCTCACACAAATGCACAGGCAGGGCTTGCCTTGGCCCTACATGGTTACTAACCCATTCTTTAACAGTTACAATATATACTATGGATATTTCACAATTTATTGATCCAGTCCCAGGTTGGTGAAAATTCAGGTTGTTTCCAATTTGTTGTTGGTGTTATTGTTTTGTCCTAGACACAATGTGTGTTAGGGTTCTCCAAAGAAACAGAACCAGTAGACTACACACACACACACACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAAAGAAAGAGAGATTTACTATGAGAATTGGCTCTTATGATTATGAGGGCCGAGAAGTCCTAGTATCCGGCATCTAATCTGCAGACCCAGGAGAGCCCATGATTCAGTCAAGTCTAAGACCTGAGAAGGAGGCAACGGTGTCATCCCAGCCCAGTGTTCCCCCACCCCCACCCCGTCCCACCACCTTCTTCTGCCTTTTCTCCTCAGGCCCTCAACAGATTGGATGATGTCACCCAGCCTGGCAAGAGGGATCTTTACTCTGTTCAAATGCCAATCATTTCCAGGGACACCCTCACAGTTCTACCCAAAACAGAAATCATGTTTTTCCAGCTATCCAGGCATTCCTTAGCCCAGTTAGGTTAACCCAAAATCAGCCATCACACAGCATTATAATCACATCCTTCCTTACTGGTTCTTTTTTTTTTCTTCTAGACTATGTTCCCAAAGGTGAGATTACTAGGTCAAAGGGTGTATAAATTCTGACTGTAACAGCCTGACAGATTACTTGTCTAAAAAGCACATGGCGGCAGTCATATCTGTACCTTCTTCTCAGTTCTGGTGTTATTTATCTATCTTTTTTTTTTTTTAATTGAGGTTTTTCAGCTGAGTGGAAGCTCACAGCTTAGGGCATTCAGCCCTATAAGGATTTTCTGGGTTTTTTTGTTTTGTTTTGTCTGTTTGTTTTTTGTTTTGTCTTTGAGACAGACTCTCTGTCATTCAGGCTGGAGTGAAGTGGTGGGATCTCGGCTCGCTGCAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCTTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCGCCATTTTGCCTAGGCTGGTCTCAAACTTCTGAGCTCAGGCAATTCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCAGCCCTACAAGTTTTGATAGAGACGTACAATCATGTAGCCACTGCCACATCATGATAT | CTGGAGTGCAGCCGTGCGATCTCAGCTCACTGCAACCTCTGCCTCCCAGCTTCAAGTGATTTTCCTGCCTCAACCTCCTGAGTAGCTGGGATTACAGGTGCCCGCCACCATGCCTCACTAATTTTTGTATTTTTAGTAGAGATGGGGTTTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGCGCTGGGATTACATTCATGAGCCACCGTGCCCAGCAATCCCAGTGCTTTGGGATGCCAAGGCAGGAGGCTCCTTTGGGGCCAGGAGTTCAAGACAAGACGGGGCAACACAGTGAGACCCCATATCTACAAAAATGTTTTAAATTGGCCAGGCATGGTGGTGCATGCCGGTAGTCCCAGCTACTCGGGAGGCTGAGGTGGGAGGATCGCTTGAGCCCAGGAGGTCAAGGCTGCAGTGAGCTAGGATTGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACCCTGTCTCTAAAAGAAGAAAAAGACCACCTGGGCATGGGTCTGGAACCCACCCTAGTGGATCCCAGATTCCCCACAGAGTCTGTCTACCCCCCTTGGTGGCAGTTCTTGAGCCAAACGAGTTACTGCTAGAAATTGAAGGGTTTCCTTTGTGATAAAGTTTTTAAGTATCCATTATTTTATGGTGTCTGATTATTAAAGTAACACACACCCAGCTCTAAACATTTTAAACTATACAATGCGTGCAAAGTACCCAGGGAAAATTGCATATAATTCCAACGCCCTTCACTTCCCAGAAAACCAATGTGTAGCTATATTCCTTTCTTGTTTTGCTCTGTTTTTTACACAAATGGGATTGTTTCAGAAGTTCCCCCTTGAAGCACTTTAGTATTTTCATGGCCATCTTTCCGTGTCACACACGTGGGCCCATATCTCCCTGTGGAAAGGGTGCGGAGCAGGCGTGGTGTGGAGGCACCGTCCTTTCTTCAGCGTGCTCCGGAAGGGATGAATAGCGCAGGGATCGCCTGTTCCTTGCGGTTTGATAGAATCTAGGCAAAAAATTATCTGGGACCAATGCTTTGGGGGGCTTGTATCTTTGGTGACATTTAAATAGCTTTTAGACTATTGGTGTATTCAGGCTTTTTACTTTTTCTTAAGTCAGCTTCTATCAATTATACTGACTTTCTCAGCTCCTACAGTTATATATCCCTGTTCTCTCTCTCTCTGTCTCTCTGTTTCTTCCCCACCCCCATCTCCCTCCCTCCCCCTGTATGCCAGAGGTTGGCAAACGTTTGCATAAGGAGCCCAGTAGTGAACACTTCAGGCTTTGAGAGCCTCACGCTTTCTGTCGCAGCTGCTTGGCTCTGCCATTGCAGCTTGAGAGCCTTGTAAAGCCTTAGAGTGTGAGCTCACCGAAGCATCAGAAGAAAACTCCTAATTTCTTACACTGCCTCTCCTACCTCTAAAGACACCAGATTATGCTTTGGGAGAAAAAAATCCAACTGGCAAAAGAGATGCGTTCCTCAGTGGATTCCGAGATCGGCCAGACGGAGATCCGGGCCATGAAGGGCGAGATCCACAGGATGAAGGTGAGGGGAGGAGAGCGGCGTGGCAGGGCCTGCTGGGTGCCAGCCCTTGGGCTCTGGAGACCTGGCCACACCAAGGCCTCGGCTCTCCCGGGGCTCCTGTGGGAACCACACTGGCCACATTGGCTGGTGGCAATGGGTGAGATTTCCAGGGAGCGACCCGCTCCAGCAGAGTGACCTGCACTCCAGCCGAGCACTGGCAAAGCGCACGTCCCCCTTGACCCAGCTTTTACCACACGCTTGCTTTTAATGTGCAGAAATATTGCAGAACAACACAGGACGCACACAGGCACGTGCACGAACAACACGGGACGCACGCAGGCACGTGCACGAAGAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCGGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACAACACGGGACGCGCGCAGGCACGTGCACGAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGAACAACACAGGACACACACAAGCACGTGCATGTCATCTCACAAAACGCTGTTTTATTCCTACTCCATGTAATCACAGCACGCTGGTATTTTTAAATGCCGGTTGTAACCCTCAAACTTTGTGACCCTCTAACGTATCCCACTGTGAGACAGTCTCACACCACAGAAGGGCTCAGAGAGCACCCCCATCTCATCCTTCACAGCCGCGTTGTCTCTCCATGGTCACAATTAGATTTCATTGCCTTTAAAAGGCTGGTAATTAAATTGCAAGTGGTCATCAAGCTAAAGGTTCAGGGCCTTAAGGATAACAGTAAGAGCAGTTCATAAAATAAATGGGCCTCACTTTCACCATGCCATGCTAAATAGAAATTCCTCTGCTGAGTTATTTTTCAGATCAAGTGCATATGCTAATAAGATGTTGTGTTTAAAAATACCAAATTTAATTGACTTTTCATATTACAGAAGCCACATGTATTTGCTGGAGCAAGACAAGCTCTCCTCCACAGAGTGGGGGCCAAAGAGAAGGTCCGGGCTGCTCCTCCCTGTCCCTTCTTCCCCGGCTCCCCCTCCTCAGCCAGGGCGACTGTGTCAGCCGCTGCAGGGATAAGGCCTCTCACCTTCTCGGATCTCACACAAATGCACAGGCAGGGCTTGCCTTGGCCCTACATGGTTACTAACCCATTCTTTAACAGTTACAATATATACTATGGATATTTCACAATTTATTGATCCAGTCCCAGGTTGGTGAAAATTCAGGTTGTTTCCAATTTGTTGTTGGTGTTATTGTTTTGTCCTAGACACAATGTGTGTTAGGGTTCTCCAAAGAAACAGAACCAGTAGACTACACACACACACACACACACACACACACACACACACACACAGAGAGAGAGAGAGAGAAAGAAAGAGAGATTTACTATGAGAATTGGCTCTTATGATTATGAGGGCCGAGAAGTCCTAGTATCCGGCATCTAATCTGCAGACCCAGGAGAGCCCATGATTCAGTCAAGTCTAAGACCTGAGAAGGAGGCAACGGTGTCATCCCAGCCCAGTGTTCCCCCACCCCCACCCCGTCCCACCACCTTCTTCTGCCTTTTCTCCTCAGGCCCTCAACAGATTGGATGATGTCACCCAGCCTGGCAAGAGGGATCTTTACTCTGTTCAAATGCCAATCATTTCCAGGGACACCCTCACAGTTCTACCCAAAACAGAAATCATGTTTTTCCAGCTATCCAGGCATTCCTTAGCCCAGTTAGGTTAACCCAAAATCAGCCATCACACAGCATTATAATCACATCCTTCCTTACTGGTTCTTTTTTTTTTCTTCTAGACTATGTTCCCAAAGGTGAGATTACTAGGTCAAAGGGTGTATAAATTCTGACTGTAACAGCCTGACAGATTACTTGTCTAAAAAGCACATGGCGGCAGTCATATCTGTACCTTCTTCTCAGTTCTGGTGTTATTTATCTATCTTTTTTTTTTTTTAATTGAGGTTTTTCAGCTGAGTGGAAGCTCACAGCTTAGGGCATTCAGCCCTATAAGGATTTTCTGGGTTTTTTTGTTTTGTTTTGTCTGTTTGTTTTTTGTTTTGTCTTTGAGACAGACTCTCTGTCATTCAGGCTGGAGTGAAGTGGTGGGATCTCGGCTCGCTGCAACCTCCGCCTCCCAAGTTCAAGCGATTCTCCTGCTTCAGCTTCCCAAGTAGCTGGGATTACAGGTGTGTGCCACCATGCCTGGCTAATTTTTTTGTATTTTCAGTAGAGACGGGGTTTCGCCATTTTGCCTAGGCTGGTCTCAAACTTCTGAGCTCAGGCAATTCGCCCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCAGCCAGCCCTACAAGTTTTGATAGAGACGTACAATCATGTAGCCACTGCCACATCATGA | benign | 285,030 |
Gene mutation in CCDC40 (coiled-coil domain 40 molecular ruler complex subunit) at chromosome 17, position 80095281—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Primary_ciliary_dyskinesia'] | CAGTGGCACTCACATCTCAGCTCGCTGCAACTTCCACCTCCTGGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGAGCTCAGGTGATCCACCGGTTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGTTTTCTTATTTCTTAACATTTTTTAGGAGTTCCTTATACATTCGGTTATTAACCCCTGTCTTCAATACCTATTAAAATAGTGGCTCTGACCTATCATTGTCTTTGCCCTCTGTTTAGGGGGTCTTTTGCCACACAGACTTTTTAGTGTTTCTTAGTGTGGCTCCAAGTCACTTTATGGTACATTTTAAACCTGAGTAAGCTTGGTCTCCCTTCACCCTGCTTATCTTCGGGATTCTTGCCTGTTTTTTCTTTTAAATCAACTTTAGGCATAACTTTCATAAGATAAAATATGCTTATTTTAAACGCAGAGTTTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGTTCAAAACCAGCCTGGCCACCACGGTGAAACCCTGTCTCTACTGAAAAAAAAAAAAAAAATAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCTAACTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGTGGAAGTTGCGGTGAGACGAGATTGTGCCATCGCACTCCAGCCTGGGCAACAGAAGGAGACTGTGTCTCAAAAAATTTTTTTTATAAAAAGGCTGGGTGCAGTGGCTTATGCCTGCAATCCCAGCTTTGGGAGGCCAAGGTGGGCGGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGGGGCAGATACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCTAGATGGCTCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCAAAAAATTTTTAAAAAAGCACAGTTTGGTGGGTTCTAACACGCGCACACATCTACGTAGCCACTGACGCCATCAAGACATAGAACCTTTCTATGACTCCAGAAAGTTCCTGTGCACCCCCGCAGCCAATCCTCACGCTACAACCCAGTCCCCAGCCCCAGGTCCTCCACCCAAGCCAAGGTGCATTGTCACAACTAAGAAATTAACCTTCATGCAATACTGCTAACCAAACTACAAACTCTAATCAGATTTCACCAATTTTCTCAATGAGATTTTTTTCTGCTGCAGGATCTGACCCTGGCTTAGTTGCTTTTAGTTCTCACATCTCCTTGGTGGCCTCAGGTCTCGGCCATTTCTCCACCTTGCACTGTCTGCCTGTGGATTCCGGGTTCCCACCCAGGGCTGCTGCCTCCATGTCCCTTGTTCCTCCTGGCGGCACAGGCCTCACTGTTTCCCCGCCGATCCCCATGCGTGTCACCGGAGGATGAGCGAGGCCAGCGCCCCGGCCACTCTCTCTGCAGCTGCAGCTCAGGCCTGCCCCAGCCCCAGCCCCTCTGTCCTGTCTCCCAGGTCAGGCTCGGGCAGCTGCTGAAGCAGCAGGAGAAGATGATCCGTGCCATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGAGAGACCATCCCCAGTTCTGCTAACCTGCTGCTGGGTTCGGGGTCAGGGGTGAGGATCCAGAGGCTGTTAGAGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGCTACGGGGCCTGTCTGGGAGACTGCAGAATGCCCGCACCGGACAGAGCTGCTGACACCCAGAGACGGCCGTGTTTCAGCCCCTCCCTGCATATCGGAGGTGGCATTGGGAAGGCATAGAGTTCTGGGGAAGAGGCCAGCTCATGCTGGGGAGCCCGAGTGGGCACCGGGGACCAGCTGATGGGAGCGGGGTGGGCGCCTCGAGAGCCTGCATCCGCATACCCCAGGCCATGTCCACTGGGCCTGCACTGGGAGGGCCCAGCTGGTGCTGTCCGGTGCTTACCACCTCAACGGTTGCCAGCCAGGGGCCCTGCACTCACACTTCCCAGGTTGGCCCCACAGCCCCGCTGACCCGCTGTGTGACCTCGGAGTATGTGGGCCTTGCCAGACCTGCAGGGCCTCGTCTGCTGGGGGGTGGAGGGGCAGAGTTAAATGTGACAGCAACCACAGCCGTGGGTGGGGAGGTGGCCTTGGGGACAGCTGACAGCATGGCTTGGAGCCACGCTGGACCATTCCTGACTGGGGCATACGGTCTGACCTCCCAGAGCCTTGGTTTACTGACCTGTGAAATGGGTGCCCACCTCTCAGAGTCACCCAGAGGGTTCCCTGGAGAGTGCTGAAGTCATCCCTGTAGGGAAAGGCTAGCCAAAAATGGCAGACATGCATGGGCTGCTCATTTGGAAGTAACTGGAAGTTTCTGGAGAGAGGCGGCAGAGTGGCCTCTTCTCAGTCCTTTTCCACTACATTGGCTACTCCTGATGTCCATCCCTCCCTCAGCTTCCTAGCCCGGCCCCTGACCACTCCTTGCTGCCCTGGGCACCCCCTGAGTCCCCTGCCAGGACCCCATGCCCACCCCTCACCTCCTGTCTGCTCCAAGCCACACTCAAGTTCTCCAGCCCCAGGCCCTGCGCCCCACACGACGCCATCACTGATGGGTCCTTGTCCTCACCCCTGCCAGCCCCACCCCAAAGATCTTCCGTGTCCCCAGCCAGCCCTGAGAGTCACTGTGTCTCCTGCATCACCCCCTGGACCATGTCAGCTGCCAAACACTGCCTGCCCGGCTTTTCTTTCTCTTAATTGTGCTGCTTTCCCCGAAGGCGGAACGAACACCACACAGATGGCCCCAGCCTCGCTCCTCCCTCAGCAGAGGCCCCCACCCTCCTCTCTCCCAGGCTCCCCAGCCTGCCTCTCGGCCCTTACAGCCTCAGCCCTGCCCTTGGCACACGGCTGCTGAACTGTGCCAGTCTCCTGCCTGGGGACAGACCCACTGCACGGGGAGCCCCAGAACCACTCAGGCCCCCATCTCTCTGCCACACCTGCCTTAAAGGAGCAGTGTGCAGTGTGGGCTGGCTGGGCCTGGCATCTCCCAGGCCTCGCCTCTCCAGCCCTCCCATTCCTCTTTGGGAGCCTCCCTGGATGGAGTGTGTGGAAGGTGCCTGGCAGGTCCTCCCAGCCTGACTCTTCCCTGTCCGCCAAGTAGCCGGGCTGCAGGGGCCCAGCATGGTCCTGTGATTCTCCTAGGCCACCGATGAGTGCACCAAAACCGTCCTGGAACTGGAAGAAACACAAAGAAATGTGAGCAGCTCCCTCCTAGAGAAGCAGGAA | CAGTGGCACTCACATCTCAGCTCGCTGCAACTTCCACCTCCTGGGTTCGAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGAGACTACAGGCATGTGCCACCACACCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGAGCTCAGGTGATCCACCGGTTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGTTTTCTTATTTCTTAACATTTTTTAGGAGTTCCTTATACATTCGGTTATTAACCCCTGTCTTCAATACCTATTAAAATAGTGGCTCTGACCTATCATTGTCTTTGCCCTCTGTTTAGGGGGTCTTTTGCCACACAGACTTTTTAGTGTTTCTTAGTGTGGCTCCAAGTCACTTTATGGTACATTTTAAACCTGAGTAAGCTTGGTCTCCCTTCACCCTGCTTATCTTCGGGATTCTTGCCTGTTTTTTCTTTTAAATCAACTTTAGGCATAACTTTCATAAGATAAAATATGCTTATTTTAAACGCAGAGTTTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGTTCAAAACCAGCCTGGCCACCACGGTGAAACCCTGTCTCTACTGAAAAAAAAAAAAAAAATAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCTAACTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGTGGAAGTTGCGGTGAGACGAGATTGTGCCATCGCACTCCAGCCTGGGCAACAGAAGGAGACTGTGTCTCAAAAAATTTTTTTTATAAAAAGGCTGGGTGCAGTGGCTTATGCCTGCAATCCCAGCTTTGGGAGGCCAAGGTGGGCGGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGGGGCAGATACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCTAGATGGCTCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCAAAAAATTTTTAAAAAAGCACAGTTTGGTGGGTTCTAACACGCGCACACATCTACGTAGCCACTGACGCCATCAAGACATAGAACCTTTCTATGACTCCAGAAAGTTCCTGTGCACCCCCGCAGCCAATCCTCACGCTACAACCCAGTCCCCAGCCCCAGGTCCTCCACCCAAGCCAAGGTGCATTGTCACAACTAAGAAATTAACCTTCATGCAATACTGCTAACCAAACTACAAACTCTAATCAGATTTCACCAATTTTCTCAATGAGATTTTTTTCTGCTGCAGGATCTGACCCTGGCTTAGTTGCTTTTAGTTCTCACATCTCCTTGGTGGCCTCAGGTCTCGGCCATTTCTCCACCTTGCACTGTCTGCCTGTGGATTCCGGGTTCCCACCCAGGGCTGCTGCCTCCATGTCCCTTGTTCCTCCTGGCGGCACAGGCCTCACTGTTTCCCCGCCGATCCCCATGCGTGTCACCGGAGGATGAGCGAGGCCAGCGCCCCGGCCACTCTCTCTGCAGCTGCAGCTCAGGCCTGCCCCAGCCCCAGCCCCTCTGTCCTGTCTCCCAGGTCAGGCTCGGGCAGCTGCTTGAAGCAGCAGGAGAAGATGATCCGTGCCATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGAGAGACCATCCCCAGTTCTGCTAACCTGCTGCTGGGTTCGGGGTCAGGGGTGAGGATCCAGAGGCTGTTAGAGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGCTACGGGGCCTGTCTGGGAGACTGCAGAATGCCCGCACCGGACAGAGCTGCTGACACCCAGAGACGGCCGTGTTTCAGCCCCTCCCTGCATATCGGAGGTGGCATTGGGAAGGCATAGAGTTCTGGGGAAGAGGCCAGCTCATGCTGGGGAGCCCGAGTGGGCACCGGGGACCAGCTGATGGGAGCGGGGTGGGCGCCTCGAGAGCCTGCATCCGCATACCCCAGGCCATGTCCACTGGGCCTGCACTGGGAGGGCCCAGCTGGTGCTGTCCGGTGCTTACCACCTCAACGGTTGCCAGCCAGGGGCCCTGCACTCACACTTCCCAGGTTGGCCCCACAGCCCCGCTGACCCGCTGTGTGACCTCGGAGTATGTGGGCCTTGCCAGACCTGCAGGGCCTCGTCTGCTGGGGGGTGGAGGGGCAGAGTTAAATGTGACAGCAACCACAGCCGTGGGTGGGGAGGTGGCCTTGGGGACAGCTGACAGCATGGCTTGGAGCCACGCTGGACCATTCCTGACTGGGGCATACGGTCTGACCTCCCAGAGCCTTGGTTTACTGACCTGTGAAATGGGTGCCCACCTCTCAGAGTCACCCAGAGGGTTCCCTGGAGAGTGCTGAAGTCATCCCTGTAGGGAAAGGCTAGCCAAAAATGGCAGACATGCATGGGCTGCTCATTTGGAAGTAACTGGAAGTTTCTGGAGAGAGGCGGCAGAGTGGCCTCTTCTCAGTCCTTTTCCACTACATTGGCTACTCCTGATGTCCATCCCTCCCTCAGCTTCCTAGCCCGGCCCCTGACCACTCCTTGCTGCCCTGGGCACCCCCTGAGTCCCCTGCCAGGACCCCATGCCCACCCCTCACCTCCTGTCTGCTCCAAGCCACACTCAAGTTCTCCAGCCCCAGGCCCTGCGCCCCACACGACGCCATCACTGATGGGTCCTTGTCCTCACCCCTGCCAGCCCCACCCCAAAGATCTTCCGTGTCCCCAGCCAGCCCTGAGAGTCACTGTGTCTCCTGCATCACCCCCTGGACCATGTCAGCTGCCAAACACTGCCTGCCCGGCTTTTCTTTCTCTTAATTGTGCTGCTTTCCCCGAAGGCGGAACGAACACCACACAGATGGCCCCAGCCTCGCTCCTCCCTCAGCAGAGGCCCCCACCCTCCTCTCTCCCAGGCTCCCCAGCCTGCCTCTCGGCCCTTACAGCCTCAGCCCTGCCCTTGGCACACGGCTGCTGAACTGTGCCAGTCTCCTGCCTGGGGACAGACCCACTGCACGGGGAGCCCCAGAACCACTCAGGCCCCCATCTCTCTGCCACACCTGCCTTAAAGGAGCAGTGTGCAGTGTGGGCTGGCTGGGCCTGGCATCTCCCAGGCCTCGCCTCTCCAGCCCTCCCATTCCTCTTTGGGAGCCTCCCTGGATGGAGTGTGTGGAAGGTGCCTGGCAGGTCCTCCCAGCCTGACTCTTCCCTGTCCGCCAAGTAGCCGGGCTGCAGGGGCCCAGCATGGTCCTGTGATTCTCCTAGGCCACCGATGAGTGCACCAAAACCGTCCTGGAACTGGAAGAAACACAAAGAAATGTGAGCAGCTCCCTCCTAGAGAAGCAGGA | pathogenic | 285,031 |
Located at chromosome 17 position 80095430, the variant affecting gene CCDC40 (coiled-coil domain 40 molecular ruler complex subunit)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_15'] | CATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGAGCTCAGGTGATCCACCGGTTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGTTTTCTTATTTCTTAACATTTTTTAGGAGTTCCTTATACATTCGGTTATTAACCCCTGTCTTCAATACCTATTAAAATAGTGGCTCTGACCTATCATTGTCTTTGCCCTCTGTTTAGGGGGTCTTTTGCCACACAGACTTTTTAGTGTTTCTTAGTGTGGCTCCAAGTCACTTTATGGTACATTTTAAACCTGAGTAAGCTTGGTCTCCCTTCACCCTGCTTATCTTCGGGATTCTTGCCTGTTTTTTCTTTTAAATCAACTTTAGGCATAACTTTCATAAGATAAAATATGCTTATTTTAAACGCAGAGTTTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGTTCAAAACCAGCCTGGCCACCACGGTGAAACCCTGTCTCTACTGAAAAAAAAAAAAAAAATAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCTAACTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGTGGAAGTTGCGGTGAGACGAGATTGTGCCATCGCACTCCAGCCTGGGCAACAGAAGGAGACTGTGTCTCAAAAAATTTTTTTTATAAAAAGGCTGGGTGCAGTGGCTTATGCCTGCAATCCCAGCTTTGGGAGGCCAAGGTGGGCGGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGGGGCAGATACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCTAGATGGCTCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCAAAAAATTTTTAAAAAAGCACAGTTTGGTGGGTTCTAACACGCGCACACATCTACGTAGCCACTGACGCCATCAAGACATAGAACCTTTCTATGACTCCAGAAAGTTCCTGTGCACCCCCGCAGCCAATCCTCACGCTACAACCCAGTCCCCAGCCCCAGGTCCTCCACCCAAGCCAAGGTGCATTGTCACAACTAAGAAATTAACCTTCATGCAATACTGCTAACCAAACTACAAACTCTAATCAGATTTCACCAATTTTCTCAATGAGATTTTTTTCTGCTGCAGGATCTGACCCTGGCTTAGTTGCTTTTAGTTCTCACATCTCCTTGGTGGCCTCAGGTCTCGGCCATTTCTCCACCTTGCACTGTCTGCCTGTGGATTCCGGGTTCCCACCCAGGGCTGCTGCCTCCATGTCCCTTGTTCCTCCTGGCGGCACAGGCCTCACTGTTTCCCCGCCGATCCCCATGCGTGTCACCGGAGGATGAGCGAGGCCAGCGCCCCGGCCACTCTCTCTGCAGCTGCAGCTCAGGCCTGCCCCAGCCCCAGCCCCTCTGTCCTGTCTCCCAGGTCAGGCTCGGGCAGCTGCTGAAGCAGCAGGAGAAGATGATCCGTGCCATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGAGAGACCATCCCCAGTTCTGCTAACCTGCTGCTGGGTTCGGGGTCAGGGGTGAGGATCCAGAGGCTGTTAGAGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGCTACGGGGCCTGTCTGGGAGACTGCAGAATGCCCGCACCGGACAGAGCTGCTGACACCCAGAGACGGCCGTGTTTCAGCCCCTCCCTGCATATCGGAGGTGGCATTGGGAAGGCATAGAGTTCTGGGGAAGAGGCCAGCTCATGCTGGGGAGCCCGAGTGGGCACCGGGGACCAGCTGATGGGAGCGGGGTGGGCGCCTCGAGAGCCTGCATCCGCATACCCCAGGCCATGTCCACTGGGCCTGCACTGGGAGGGCCCAGCTGGTGCTGTCCGGTGCTTACCACCTCAACGGTTGCCAGCCAGGGGCCCTGCACTCACACTTCCCAGGTTGGCCCCACAGCCCCGCTGACCCGCTGTGTGACCTCGGAGTATGTGGGCCTTGCCAGACCTGCAGGGCCTCGTCTGCTGGGGGGTGGAGGGGCAGAGTTAAATGTGACAGCAACCACAGCCGTGGGTGGGGAGGTGGCCTTGGGGACAGCTGACAGCATGGCTTGGAGCCACGCTGGACCATTCCTGACTGGGGCATACGGTCTGACCTCCCAGAGCCTTGGTTTACTGACCTGTGAAATGGGTGCCCACCTCTCAGAGTCACCCAGAGGGTTCCCTGGAGAGTGCTGAAGTCATCCCTGTAGGGAAAGGCTAGCCAAAAATGGCAGACATGCATGGGCTGCTCATTTGGAAGTAACTGGAAGTTTCTGGAGAGAGGCGGCAGAGTGGCCTCTTCTCAGTCCTTTTCCACTACATTGGCTACTCCTGATGTCCATCCCTCCCTCAGCTTCCTAGCCCGGCCCCTGACCACTCCTTGCTGCCCTGGGCACCCCCTGAGTCCCCTGCCAGGACCCCATGCCCACCCCTCACCTCCTGTCTGCTCCAAGCCACACTCAAGTTCTCCAGCCCCAGGCCCTGCGCCCCACACGACGCCATCACTGATGGGTCCTTGTCCTCACCCCTGCCAGCCCCACCCCAAAGATCTTCCGTGTCCCCAGCCAGCCCTGAGAGTCACTGTGTCTCCTGCATCACCCCCTGGACCATGTCAGCTGCCAAACACTGCCTGCCCGGCTTTTCTTTCTCTTAATTGTGCTGCTTTCCCCGAAGGCGGAACGAACACCACACAGATGGCCCCAGCCTCGCTCCTCCCTCAGCAGAGGCCCCCACCCTCCTCTCTCCCAGGCTCCCCAGCCTGCCTCTCGGCCCTTACAGCCTCAGCCCTGCCCTTGGCACACGGCTGCTGAACTGTGCCAGTCTCCTGCCTGGGGACAGACCCACTGCACGGGGAGCCCCAGAACCACTCAGGCCCCCATCTCTCTGCCACACCTGCCTTAAAGGAGCAGTGTGCAGTGTGGGCTGGCTGGGCCTGGCATCTCCCAGGCCTCGCCTCTCCAGCCCTCCCATTCCTCTTTGGGAGCCTCCCTGGATGGAGTGTGTGGAAGGTGCCTGGCAGGTCCTCCCAGCCTGACTCTTCCCTGTCCGCCAAGTAGCCGGGCTGCAGGGGCCCAGCATGGTCCTGTGATTCTCCTAGGCCACCGATGAGTGCACCAAAACCGTCCTGGAACTGGAAGAAACACAAAGAAATGTGAGCAGCTCCCTCCTAGAGAAGCAGGAAAAGCTGTCGGTGATTCAGGCAGACTTCGACACACTCGAGGCCGACCTCACCCGGCTTGGGGCCCTCAAACGACAGGTAAACGTGTCCCAGGAGGTCCCTGGGGATGACGGCCATGGAACATGCCACTCACACAGAGGTCCTGCGTCCCC | CATGTTGGCCAGGCTGGCCTTGAACTCCTGATCTCAGATGATCCACCTGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACTGTGCCCGGCCAGCTGATTTTAATATTAGGCTGTTTTCTTATTTCTCTTTTTTTTTTTTTTGAAACAGTCTCGCTCTGTTGCCCAGGCTAGAGAGCAGTGGCACGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGGTTCAAGTGATTCTCCCGCCTCAGCCTCCTGAGTAGCTGAGATTACAGGCGTGCACCACTATGCCTGGCTAATTTTTGTATTTTTGGTAGAGACGGGATTTCACCATGTTGGCCAGGTTGGTCTCAAACTCCTGAGCTCAGGTGATCCACCGGTTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCTGTTTTCTTATTTCTTAACATTTTTTAGGAGTTCCTTATACATTCGGTTATTAACCCCTGTCTTCAATACCTATTAAAATAGTGGCTCTGACCTATCATTGTCTTTGCCCTCTGTTTAGGGGGTCTTTTGCCACACAGACTTTTTAGTGTTTCTTAGTGTGGCTCCAAGTCACTTTATGGTACATTTTAAACCTGAGTAAGCTTGGTCTCCCTTCACCCTGCTTATCTTCGGGATTCTTGCCTGTTTTTTCTTTTAAATCAACTTTAGGCATAACTTTCATAAGATAAAATATGCTTATTTTAAACGCAGAGTTTGGGCTGGGTGCGGTGGCTCACGCCTGTAATCCTAGCACTTTGGGAGGCCGAGGCGGGTGGATCACTTGAGGTCAGTTCAAAACCAGCCTGGCCACCACGGTGAAACCCTGTCTCTACTGAAAAAAAAAAAAAAAATAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCTAACTACTTGGGAGGCTGAGGCAGGAGAATTGCTTGAATCTGGGAGGTGGAAGTTGCGGTGAGACGAGATTGTGCCATCGCACTCCAGCCTGGGCAACAGAAGGAGACTGTGTCTCAAAAAATTTTTTTTATAAAAAGGCTGGGTGCAGTGGCTTATGCCTGCAATCCCAGCTTTGGGAGGCCAAGGTGGGCGGATCGAGACCATCTTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCCAGGCCTGGGGGCAGATACCTGTAATCCTAGCTACTCAGGAGGCTGAGGCAGAAGAATCACTTGAACCCGGGAGGCGAAGGTTGCAGTGAGCCTAGATGGCTCCACTGCACTCCAGCCTGGTGACAGAGCAAGACTCCGTCTCAAAAAATTTTTAAAAAAGCACAGTTTGGTGGGTTCTAACACGCGCACACATCTACGTAGCCACTGACGCCATCAAGACATAGAACCTTTCTATGACTCCAGAAAGTTCCTGTGCACCCCCGCAGCCAATCCTCACGCTACAACCCAGTCCCCAGCCCCAGGTCCTCCACCCAAGCCAAGGTGCATTGTCACAACTAAGAAATTAACCTTCATGCAATACTGCTAACCAAACTACAAACTCTAATCAGATTTCACCAATTTTCTCAATGAGATTTTTTTCTGCTGCAGGATCTGACCCTGGCTTAGTTGCTTTTAGTTCTCACATCTCCTTGGTGGCCTCAGGTCTCGGCCATTTCTCCACCTTGCACTGTCTGCCTGTGGATTCCGGGTTCCCACCCAGGGCTGCTGCCTCCATGTCCCTTGTTCCTCCTGGCGGCACAGGCCTCACTGTTTCCCCGCCGATCCCCATGCGTGTCACCGGAGGATGAGCGAGGCCAGCGCCCCGGCCACTCTCTCTGCAGCTGCAGCTCAGGCCTGCCCCAGCCCCAGCCCCTCTGTCCTGTCTCCCAGGTCAGGCTCGGGCAGCTGCTGAAGCAGCAGGAGAAGATGATCCGTGCCATGGAGTTGGCGGTTGCCCGCAGAGAGACCGTCACCACCCAGGCCGAGGGGCAGCGCAAGATGGACAGGAAGGCGCTCACCCGCACCGACTTCCACCACAAGCAGCTTGAGCTGCGCCGGAAAAATCAGGGACGTTCGCAAGGTAGGGAGCAGCGGAAAGGAAACAGGGCGCCTGCTCCTCTCTCTGGGATTCAAGGAACACTCCAGGAAGGCGTCTTGCTGGGTCCGGGGTGAGGATGCAGAGGCTGCAGTGGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGGGTGCTGGGTCTGGGGTGAGGATGCAGAGAGACCATCCCCAGTTCTGCTAACCTGCTGCTGGGTTCGGGGTCAGGGGTGAGGATCCAGAGGCTGTTAGAGGGGCGTGCTCAGCACTGCTAACCTGCTGCTGCTACGGGGCCTGTCTGGGAGACTGCAGAATGCCCGCACCGGACAGAGCTGCTGACACCCAGAGACGGCCGTGTTTCAGCCCCTCCCTGCATATCGGAGGTGGCATTGGGAAGGCATAGAGTTCTGGGGAAGAGGCCAGCTCATGCTGGGGAGCCCGAGTGGGCACCGGGGACCAGCTGATGGGAGCGGGGTGGGCGCCTCGAGAGCCTGCATCCGCATACCCCAGGCCATGTCCACTGGGCCTGCACTGGGAGGGCCCAGCTGGTGCTGTCCGGTGCTTACCACCTCAACGGTTGCCAGCCAGGGGCCCTGCACTCACACTTCCCAGGTTGGCCCCACAGCCCCGCTGACCCGCTGTGTGACCTCGGAGTATGTGGGCCTTGCCAGACCTGCAGGGCCTCGTCTGCTGGGGGGTGGAGGGGCAGAGTTAAATGTGACAGCAACCACAGCCGTGGGTGGGGAGGTGGCCTTGGGGACAGCTGACAGCATGGCTTGGAGCCACGCTGGACCATTCCTGACTGGGGCATACGGTCTGACCTCCCAGAGCCTTGGTTTACTGACCTGTGAAATGGGTGCCCACCTCTCAGAGTCACCCAGAGGGTTCCCTGGAGAGTGCTGAAGTCATCCCTGTAGGGAAAGGCTAGCCAAAAATGGCAGACATGCATGGGCTGCTCATTTGGAAGTAACTGGAAGTTTCTGGAGAGAGGCGGCAGAGTGGCCTCTTCTCAGTCCTTTTCCACTACATTGGCTACTCCTGATGTCCATCCCTCCCTCAGCTTCCTAGCCCGGCCCCTGACCACTCCTTGCTGCCCTGGGCACCCCCTGAGTCCCCTGCCAGGACCCCATGCCCACCCCTCACCTCCTGTCTGCTCCAAGCCACACTCAAGTTCTCCAGCCCCAGGCCCTGCGCCCCACACGACGCCATCACTGATGGGTCCTTGTCCTCACCCCTGCCAGCCCCACCCCAAAGATCTTCCGTGTCCCCAGCCAGCCCTGAGAGTCACTGTGTCTCCTGCATCACCCCCTGGACCATGTCAGCTGCCAAACACTGCCTGCCCGGCTTTTCTTTCTCTTAATTGTGCTGCTTTCCCCGAAGGCGGAACGAACACCACACAGATGGCCCCAGCCTCGCTCCTCCCTCAGCAGAGGCCCCCACCCTCCTCTCTCCCAGGCTCCCCAGCCTGCCTCTCGGCCCTTACAGCCTCAGCCCTGCCCTTGGCACACGGCTGCTGAACTGTGCCAGTCTCCTGCCTGGGGACAGACCCACTGCACGGGGAGCCCCAGAACCACTCAGGCCCCCATCTCTCTGCCACACCTGCCTTAAAGGAGCAGTGTGCAGTGTGGGCTGGCTGGGCCTGGCATCTCCCAGGCCTCGCCTCTCCAGCCCTCCCATTCCTCTTTGGGAGCCTCCCTGGATGGAGTGTGTGGAAGGTGCCTGGCAGGTCCTCCCAGCCTGACTCTTCCCTGTCCGCCAAGTAGCCGGGCTGCAGGGGCCCAGCATGGTCCTGTGATTCTCCTAGGCCACCGATGAGTGCACCAAAACCGTCCTGGAACTGGAAGAAACACAAAGAAATGTGAGCAGCTCCCTCCTAGAGAAGCAGGAAAAGCTGTCGGTGATTCAGGCAGACTTCGACACACTCGAGGCCGACCTCACCCGGCTTGGGGCCCTCAAACGACAGGTAAACGTGTCCCAGGAGGTCCCTGGGGATGACGGCCATGGAACATGCCACTCACACAGAGGTCCTGCGTCCC | pathogenic | 285,035 |
Subsets and Splits
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