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 |
|---|---|---|---|---|---|
Chromosome 8, position 116863092, gene RAD21 (RAD21 cohesin complex component): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | AATAAAAAATTTTCAAATAAAATGTCAAAAAGAGAGAAAAAAGTAAAATAGCTAGATAGAGCCTAGAACTAATCAACACACATGCAGTAACAAAATAGGTCATAACTTACTCTAATTAGAAGCCACAGATCATTTCAAAAAGCAGAGAAATCTGTAATGGTGTAGAGTTTCTTGGTTGTCAGTTATGCTAATAAGTCACTTGGAAAGCTACAGTCACGTTCCAACATCATGGCATGATAGCTGGATCGTAAGGGCTTGAGAAAAGGGAAACATAACTACAGTACTCTGCTATAACAGCCATCTCTGTGTAACTCTCTCCTCTCAAATGTGTGTCATGACAATGACCCTTTGTTGCTCTTCATAAAAAGTTATCTCGTATGTTCATTTAAAACAAAAATAAAAACAAACCAGAACAGAATTATGGCTCTGAGTATAGCCTGGCCAATCCAGTAGCTGACTTTAATATATAACTCTGAAAAATATCATGAAGCAACAGTTTACATTCCCTGCTATCATTATATAACAAGCGTATCTGTTTCAGTTTACGTAAGCTTTGGCCTAAGCTTGTCAAAACTCTCACATCTTAGCTGTGTTAAAGCTGACATCCACATGATTTTCTTACAGAAGAACAACTTTCTAGGTTTTATGTTCCATATTTATATACTATCCTATATAAATATATATATGCATTTTAGCTGTTAATGTAAAACATTCCAAGGAAAACTATACATTTGGAAGCTAATACTACTGCTTATTGCAGACCAAGTCAACAATTTTTTTTAAAAGAAGACACATACTCTAAGTCAGGCAGTGGCTGATCAAAGTCATGAAATTCTTCAGGTAAAGTAATGGCATTATAAGCTGCTTCCCGATTTTCCTCAGGCAGGTCAACCACACCTAGAAAAGAAATGCTAAGCTTAAATATCTAGCTACCCATAAATTATCTAGGGATCAGAGGGAGATAAGTAGGTATAACTTCCTAAGTTTATATTCTCATAGAAAGGTTGATAACATATGCAAAATACCTTGAAGCACAAGTACTTCTCTTTTTCCATGCTCATAAATTGTATTCCTTGCTTTAGGAAAAAGTCAAAGCACTAATTATGCATTAAGCTCATAAATGTTTAAACGGACATATCAACAAATAACTAGTAATAGTTTCCTAATTAAACATGATATTTATGAGGGGGAAAAAGAATAACTGCAGAAGAGTACCTTAAATGTTAAAAGGAGCTGGTTATTTTGGAGAAAGAATTACACAATTTTAATTTTCTTTATCTTTTTCCTATATTTTTCAAGTTGTCTATAATAAATATGCCTTACTTTGAAAGACAAAAAAAAGCATGTTATTTAGATAAAATGTGCTTATTGGTCACATGTTAATTTAAGTATTGTAGTCTTTTTCTAAATATTTTACTTTTAAATAAAATCTTAGATCTCAGACATTTTACTGTTCACATACTGACATAAACTGAAGTACTAGAATGTATCCTCAGTAGAAACTGTTTAAGGCATTTCTTAATAAAATACACATTATTTTAATTAGAATAAAAATTTCATCAATGCTTTTAAAAATTATAGAAAGATATGTGAATTTAAATATTAATTATCTTCTTAGATGGTGGTGTGGTTGGCAGACTCCAGTTTTATAACCAATCATTACCTAAAACAAAATAACAAAAAACTACGAAGAATATTTACTTAGGAAAAAAAGTTTAAAATCCTAAAATTGTCTTTTCTGAGCTATATTTTAAAAAATCATCACATAACAATTAGTTTCCAACATTTTAACCTCTTGATGACTCAAGTCTATGTAAGCTGCTGAAAAAAGTATTAAAAAGGCAGCTCCAAAGGAAGAACAAATGGGGGTGAGCTCCATTACTTCACAGGGAGAACAGACGCAAGTAGGTTTCCTCCCTTGAAGCACTGCCTCCCCAAGCCTTGCTCTATCTTTGAAGGGTTCCTCGTATTTCAATTAAAACAAAGCATGTAGATTTAGAAAATGTGTTTAGCTACAGTAACACAAAAAACATGAGAAACTCCAAAGTAAACAACAACAACAAAAACCAAACAAGTTTAACAATACCTGGCCGAAAAGCCATCTTTATCTTAATGAATGCTTCATTACAGTCTGCAAGAAGGTATTTGGCTTTCCTGTGATAGATTCGAACTACTCCCAGTAAGAGATGTCCTGATGTCCGTAATGCCATTTTCACCTATGAATAAAACATTAATCATATTCCAAAACCTGCATTTCGTGCCATTCATAGTCTTCTTTTTATCTTTTTCCTTTAAAGTTGCCTTATAATCACATACATTTCTCTGTCCTTACCTATAAATTCCCTGAATATCGAATATCCTGAAAAGACAGAGTGACTGGAAATTCACGAATTAACACAAACATGAAGGAAGCTAGGAAGCAAGCACTAAACCATTCCATGAATTGTGTCATTAGCACATTAAGGAGCACGTAACACTTTTGGTTGCCAATCCAGGGCCATTGTTTCTTGCTAAGTCAATTCTGATTTTGTTTGAGAAGCAAATGTCCCCCACATTGACAGATGTCTCATTCCTCTCTGCTAATACCTGTTCTTCAGTGGGCATGAAACACAGTTCAGCCAATTGAGTAATAGGTGAAGTATGCCAGAGAGTTTCTGAGAAAGATTTCCCCCCCAAAAGAACAACGCCTCTCTTCCTTCCCTCTTTCCTGCTTTGTGAATAGGTAGGGCTTGCTTGGTGCTTCATGCAGTCACCCTGTAAACCACAATGCTAAAGTATGAGGACAGGAAGCTAACACACTAAGGATGGAGAGTTCTTGGATGACATAATCAAGCTGCTGGACCAATCTCAGATCTCCCTGTTTCCAAAATTTTAGTTAATTAAGCCTGTTATTTCCCTTATTGTTTAAGCTACTTTTTAACTAAGTTTCCATTAATTGGAAAGCATACCGATTTAAAAAAAAAAGTTTGGAAAGCATACTAATTGATAAAGAACAATAGTATCCATAGCTTTTTTTCACCAGAAAATATACTCCCAACCTTTTTTCGAGGCAGATCTTGATCAACATTAACATGGGATACAGTATGTGGAAAAGCAGTAGTTGATAAAACAATGAGATAAGACTCCATCTAAACACAAGTATTCAAAATTCCTCTAGCCATAAGGAAAATTTACTGAAAGAACAAGGCAATATGAACTCAAACATCCCCAGATACTTTCCCAAACCACGCCATAAAGCACAACAAGTTCTAAGGTAACAAAAAAAGCTTTTAAACATTTGCTTAATGTTTAAATTATGATTAGTATATTGTTATTTGTAAAAGAAAATGTTGTATTTTAAATTTTATGTGTATTTTCTACAGCACTCTAGGACCCTACTTATGACTCTCAGGTTCTGTATTTATGAGCATTTTATGTGACTTACAGCATAAATGATGATGTATATGGCCATACATTTTTAGACATCCAAAATTATACCAAATTTGTGATCAAATTCAGAATTTATCAGACAATGAATCCCTAATTTTAAAAAAATTCAAAGTAAAATGTTGCTCCTAATGGAAAAACAGAATCTATTTTTATGTGGTGTTATAAAATTTAAAATTAATATTGATTGAACCTTCACCTAAGAACAAAGGAGGGAAAAAAAACCTCTGCTATTATCTTATCTAGAACTAGCAACTTTCAAAAAGTGGTGTTTGGGCAAAAGCTTTCTTTCTGGATTAGTCTGGTTCAGAGTTTAGCCTAGGAGTAGGTAAAATGAGGTATGGCATATGTTTTTGAGCTAGTGTGTGTTAAAGTGTAAACATAAATATAATAAAGATTCCAGGCTACATATTCTGGGAAAGCTCTGCAAATAGGGCCAGTGGTTCTTCCAGTGGGGGAGTGGAAGAGAGAAGAGAAAAAGTATGCAAGCTTGCAGTTGCAAATGAGCCACGTGTGACACTTATGCTAAACAACTAAACTGACATTTTCACAACAAGAACTGCACACCAAAGCAAACATTAGAAATTTCAGGCCCGTTCACTCTGTGGAAATATCTTTACATCCTGTTACCAAATAGATAAAAGCTCAGTTAGAAATGGTTTAAAAAATT | AATAAAAAATTTTCAAATAAAATGTCAAAAAGAGAGAAAAAAGTAAAATAGCTAGATAGAGCCTAGAACTAATCAACACACATGCAGTAACAAAATAGGTCATAACTTACTCTAATTAGAAGCCACAGATCATTTCAAAAAGCAGAGAAATCTGTAATGGTGTAGAGTTTCTTGGTTGTCAGTTATGCTAATAAGTCACTTGGAAAGCTACAGTCACGTTCCAACATCATGGCATGATAGCTGGATCGTAAGGGCTTGAGAAAAGGGAAACATAACTACAGTACTCTGCTATAACAGCCATCTCTGTGTAACTCTCTCCTCTCAAATGTGTGTCATGACAATGACCCTTTGTTGCTCTTCATAAAAAGTTATCTCGTATGTTCATTTAAAACAAAAATAAAAACAAACCAGAACAGAATTATGGCTCTGAGTATAGCCTGGCCAATCCAGTAGCTGACTTTAATATATAACTCTGAAAAATATCATGAAGCAACAGTTTACATTCCCTGCTATCATTATATAACAAGCGTATCTGTTTCAGTTTACGTAAGCTTTGGCCTAAGCTTGTCAAAACTCTCACATCTTAGCTGTGTTAAAGCTGACATCCACATGATTTTCTTACAGAAGAACAACTTTCTAGGTTTTATGTTCCATATTTATATACTATCCTATATAAATATATATATGCATTTTAGCTGTTAATGTAAAACATTCCAAGGAAAACTATACATTTGGAAGCTAATACTACTGCTTATTGCAGACCAAGTCAACAATTTTTTTTAAAAGAAGACACATACTCTAAGTCAGGCAGTGGCTGATCAAAGTCATGAAATTCTTCAGGTAAAGTAATGGCATTATAAGCTGCTTCCCGATTTTCCTCAGGCAGGTCAACCACACCTAGAAAAGAAATGCTAAGCTTAAATATCTAGCTACCCATAAATTATCTAGGGATCAGAGGGAGATAAGTAGGTATAACTTCCTAAGTTTATATTCTCATAGAAAGGTTGATAACATATGCAAAATACCTTGAAGCACAAGTACTTCTCTTTTTCCATGCTCATAAATTGTATTCCTTGCTTTAGGAAAAAGTCAAAGCACTAATTATGCATTAAGCTCATAAATGTTTAAACGGACATATCAACAAATAACTAGTAATAGTTTCCTAATTAAACATGATATTTATGAGGGGGAAAAAGAATAACTGCAGAAGAGTACCTTAAATGTTAAAAGGAGCTGGTTATTTTGGAGAAAGAATTACACAATTTTAATTTTCTTTATCTTTTTCCTATATTTTTCAAGTTGTCTATAATAAATATGCCTTACTTTGAAAGACAAAAAAAAGCATGTTATTTAGATAAAATGTGCTTATTGGTCACATGTTAATTTAAGTATTGTAGTCTTTTTCTAAATATTTTACTTTTAAATAAAATCTTAGATCTCAGACATTTTACTGTTCACATACTGACATAAACTGAAGTACTAGAATGTATCCTCAGTAGAAACTGTTTAAGGCATTTCTTAATAAAATACACATTATTTTAATTAGAATAAAAATTTCATCAATGCTTTTAAAAATTATAGAAAGATATGTGAATTTAAATATTAATTATCTTCTTAGATGGTGGTGTGGTTGGCAGACTCCAGTTTTATAACCAATCATTACCTAAAACAAAATAACAAAAAACTACGAAGAATATTTACTTAGGAAAAAAAGTTTAAAATCCTAAAATTGTCTTTTCTGAGCTATATTTTAAAAAATCATCACATAACAATTAGTTTCCAACATTTTAACCTCTTGATGACTCAAGTCTATGTAAGCTGCTGAAAAAAGTATTAAAAAGGCAGCTCCAAAGGAAGAACAAATGGGGGTGAGCTCCATTACTTCACAGGGAGAACAGACGCAAGTAGGTTTCCTCCCTTGAAGCACTGCCTCCCCAAGCCTTGCTCTATCTTTGAAGGGTTCCTCGTATTTCAATTAAAACAAAGCATGTAGATTTAGAAAATGTGTTTAGCTACAGTAACACAAAAAACATGAGAAACTCCAAAGTAAACAACAACAACAACAAAAACCAAACAAGTTTAACAATACCTGGCCGAAAAGCCATCTTTATCTTAATGAATGCTTCATTACAGTCTGCAAGAAGGTATTTGGCTTTCCTGTGATAGATTCGAACTACTCCCAGTAAGAGATGTCCTGATGTCCGTAATGCCATTTTCACCTATGAATAAAACATTAATCATATTCCAAAACCTGCATTTCGTGCCATTCATAGTCTTCTTTTTATCTTTTTCCTTTAAAGTTGCCTTATAATCACATACATTTCTCTGTCCTTACCTATAAATTCCCTGAATATCGAATATCCTGAAAAGACAGAGTGACTGGAAATTCACGAATTAACACAAACATGAAGGAAGCTAGGAAGCAAGCACTAAACCATTCCATGAATTGTGTCATTAGCACATTAAGGAGCACGTAACACTTTTGGTTGCCAATCCAGGGCCATTGTTTCTTGCTAAGTCAATTCTGATTTTGTTTGAGAAGCAAATGTCCCCCACATTGACAGATGTCTCATTCCTCTCTGCTAATACCTGTTCTTCAGTGGGCATGAAACACAGTTCAGCCAATTGAGTAATAGGTGAAGTATGCCAGAGAGTTTCTGAGAAAGATTTCCCCCCCAAAAGAACAACGCCTCTCTTCCTTCCCTCTTTCCTGCTTTGTGAATAGGTAGGGCTTGCTTGGTGCTTCATGCAGTCACCCTGTAAACCACAATGCTAAAGTATGAGGACAGGAAGCTAACACACTAAGGATGGAGAGTTCTTGGATGACATAATCAAGCTGCTGGACCAATCTCAGATCTCCCTGTTTCCAAAATTTTAGTTAATTAAGCCTGTTATTTCCCTTATTGTTTAAGCTACTTTTTAACTAAGTTTCCATTAATTGGAAAGCATACCGATTTAAAAAAAAAAGTTTGGAAAGCATACTAATTGATAAAGAACAATAGTATCCATAGCTTTTTTTCACCAGAAAATATACTCCCAACCTTTTTTCGAGGCAGATCTTGATCAACATTAACATGGGATACAGTATGTGGAAAAGCAGTAGTTGATAAAACAATGAGATAAGACTCCATCTAAACACAAGTATTCAAAATTCCTCTAGCCATAAGGAAAATTTACTGAAAGAACAAGGCAATATGAACTCAAACATCCCCAGATACTTTCCCAAACCACGCCATAAAGCACAACAAGTTCTAAGGTAACAAAAAAAGCTTTTAAACATTTGCTTAATGTTTAAATTATGATTAGTATATTGTTATTTGTAAAAGAAAATGTTGTATTTTAAATTTTATGTGTATTTTCTACAGCACTCTAGGACCCTACTTATGACTCTCAGGTTCTGTATTTATGAGCATTTTATGTGACTTACAGCATAAATGATGATGTATATGGCCATACATTTTTAGACATCCAAAATTATACCAAATTTGTGATCAAATTCAGAATTTATCAGACAATGAATCCCTAATTTTAAAAAAATTCAAAGTAAAATGTTGCTCCTAATGGAAAAACAGAATCTATTTTTATGTGGTGTTATAAAATTTAAAATTAATATTGATTGAACCTTCACCTAAGAACAAAGGAGGGAAAAAAAACCTCTGCTATTATCTTATCTAGAACTAGCAACTTTCAAAAAGTGGTGTTTGGGCAAAAGCTTTCTTTCTGGATTAGTCTGGTTCAGAGTTTAGCCTAGGAGTAGGTAAAATGAGGTATGGCATATGTTTTTGAGCTAGTGTGTGTTAAAGTGTAAACATAAATATAATAAAGATTCCAGGCTACATATTCTGGGAAAGCTCTGCAAATAGGGCCAGTGGTTCTTCCAGTGGGGGAGTGGAAGAGAGAAGAGAAAAAGTATGCAAGCTTGCAGTTGCAAATGAGCCACGTGTGACACTTATGCTAAACAACTAAACTGACATTTTCACAACAAGAACTGCACACCAAAGCAAACATTAGAAATTTCAGGCCCGTTCACTCTGTGGAAATATCTTTACATCCTGTTACCAAATAGATAAAAGCTCAGTTAGAAATGGTTTAAAAA | benign | 138,519 |
The genetic variant at chromosome 8, position 117799875, affecting gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1'] | GGACTATGGATGGGTCCAATTAGATGAGAGAGGTATTTAGGGAGCTGTTCTGAGTCATGAGGCTGAGGAGAAAATCCTCTCTTTAATTGAATTTCACTGTCTACGCACCTCTCAAAACACCATCTGGATATGTGGGCTCTACTCCTTGTTCTGCAGCTAGGTAGCCTGTTGAGTCACTTCTCTGGACTTCCACAAACACTTTCACTCCTGTTTACAGCACCATCCCCGTGCTATCATTACAAGCTCCTCTTCCTCTCCCAGATGTCTACAAAGAAAGGATGAGGTAAAGTCCAATGGACTTACGGTTTCCACTGACCTAAGATGGCCACTTGAAATTATCAGAACAAAATTCTCTGATGAACTTTTCTTCTAAAACAAAACTGAAAATAAATGGAAAAGAAATATGAAATGTATGAGAGTTTGAGGGAGGGACTCTAAAGTGCTTATTGTTTATTCAGCATAATACATGGTCAAACTCAATAATGTCTTTCTCTTCCCTGTTTTCTCTGGCCTCTTCCAAGTAGAAGAAAGCATTTAATATCAGAAGTCTCCATTTTTCATAACAGAGTTAGGGATATGTTTTTTTTTTCAGTTTATACTTGGAGTTTAACAATAATCATAAGCCCAAGATAGCATTTTCAGGGATAGAAATGTTCTTTTTAACAAGAAGCACAACTAAACTTTTCCACAGATTTAAAAATTAAAAGTAAATGAAACTATATTCACATTTGTTGTTGATTATTTTGTTTGCCAGATTCTTGCTCAAAACAATGTTTGACCAAAAATGGCATTAGGGTCCCAATGGCGAGACATCTCCTCAGTTACTTTGCAGCAATCCTCTTGTTCATTGGTGTGAATTTCTACCTTATTACCCCTTTTTCTTTCTCAAAAGAGAAACTCTGAAACTTGAGATTCTCACAAACATTAAAGAGTTCATCTTGTAAATAATCTGTTCTCCCCAATATACTCATTATTCCTTGGCTTCTAAACCAAAGCCTCTTCCCAGTGCTACGCAGACTTAGGTCAATGGTTGAATCTATAACCGTGCCCCCAACCCCTGCAAGTATTGGGTTACTGTTGTGGGTCTGTATTTCCATCTCACTAACATGCTGGTGGGTTATCTGGATAGTTCTTTGTGCAAACTGAACATTTCTTAATTATACTAGTGTTTTCTTGGTACTAATTCCCCCCACCCCCCCAATGAAAAACGATTATCATATATATCTATCTCAAACATAGAGATTTCAGTTAGAACTGCCTACCTGGAAGTCGTAATACTTTCTTTCATGCAGCGACATTTTAGAGATAAAAGTTCAAGTGGATTTGAAGATTCGAAGTGGAAAACAATTTGCACTGGCAAAGTTGAATAATGAAGTTACAACTTATGCTCAGTTATTTCTTGATAATGGGTAGAGTGACTTATTGTGTTTTCCACGAAGTTTGAGCTTTTGAAACTGCAGGGCACCCTACATGGCCATGACAATGATGTCTGTGGGAAAAGGAATAGCAGCTTTGAAATATTCACAACCAACACAATTTTGATTAAACAAAGAACTCTGGTTTTTAATAGTTTTGATCATTAAAAAAGTTTAAACCTGCATAGCAATCATTTCAAAAATAATTATTTAATGTTCCATAATTAAACTGTACACAACCTAGTCTTGGGACACAGAAGCCAGTGAGGTGAGTTTGGAGCAGTCTGGTGCAGTCCCAGGAGCCAGGAGTTGAGTTCTCATTGGCCTTTTTTTTTTTGTCATTCTGCTCATCTAAGTTTTTGGATAGTTGGCACAATCTGGCTCTGCTGATGAGTGGATCTGCACTGGGAAGAGAGAGCAGCTTGACCCCCATCCCTTCTTGCTTCCCCTCCCCCACTCAGCCGGATTCCTCAAAGTCGCTCAATGTCTCGGTATTTCTTCCTCAAAATAGAGACCTGGTCTTTAAAGAGGACGGGGTCGAGCCTCATCTGAGAGTGGATCAGCGGCATGTAGCCAAACCAGCTGGCAAACGTATTCATGCAGCTCTGTCGCTGGGCAAAGTGGTCAGGGTCAGCCCAACGGGAAGCCCGAGAAGTCTAGGGAGAAGGAGAGAAACAAGGATAATGATGAGAGAAGTGCAAGGTGAGATGGAAACATTGCAGAAAATGGAGTCAGGCAAATGAGCAAGCAGCAAAGCTTGGGGTCTGGCCCGGCCACCAAGTCTCACCATCTATGCACCTGCTGAAAATGCAATCGCTGATATTGGTTTTTCCCAAGGTATGCTACGTTCCTCAGTGTTAAAAACACAAAAACAAAGATTCATGTTGACTTTAATTCTCTAAAATTTATTGACTAATTCTCTGGTCAGTCCACGACTTAGCAACTGAAACTCGACTACTACAGTGACTCAATCTAAAACCTCTCTTTGCACTTGGGACCAAGTACTAAGATTAAAGATGTGTTTCTGCTTTCAAAGAGTTTTCTAAATCCTTCCTGTTTATGTAGTTGATTTAGAAATACCCACCAACTTTTAGAAGTCTATCTTTCTCTCTATCCATCACTTCCTTCCTTCTACTATCTCTTTACCTTTATAAGGGTCCTACTAAATCCTTTGTTAAAAATTCACATATATAGTTGAAGAAGAACAAAATAGTGCCTTTTACATGTCACTCAAGGCTAGTGTTACGCAGCATCTAAAACTCCGTTTTCTCTTCTGTAGCCTCCCCATTGACGTGACTCCATGAGGATGAGAAGGTGAGATTCAGTGGTATATAGAGCATGTTGCTGTATGACTAACTTTATACTAAAATCTCAAAATTCTGTTCTTCTCTTAACCCAAGAATTGTTGGCTTTCCTGCTTGACTAAAACCCCCAAAGGTTACTTTTTAAAGGGCAATCAGCCCTCCAAAGAATCACTGCTCACCCAGAATAAAGATTAACTCTCGACAAATAGAAAAGATGGCTACCATGTTTTTAGCTCTCTGTGTTGCCCCTAAAGTTGGTTAAATATTTTTAGATCATGCAAATGATTGGCATTGATTTAAAAAGAATGCCTTAATGACTGGAGTGCTGAAATTTAAATAGAATGACTAAGCACATTGTCTTTCAATCCCTGTTTTTATGAAACATGGAAAAGATGGGCTGCCCAATTATGGGGGAACCCCCACAAGCCCATTTATGTCAATAGGCAAGTCTTTAATGATGTATATGTATGCACGTGTGTTCTGTGTATTTGTTGTACTCACAGTTTTAGAAAAATACTTTCATGGGAAGATACATTTTAGTGTGAGAAGCAGTAAGAGTCACTTCAGAATCATAGTGTCAACATGCTCGAAAATAACATTGAAGATAAACACAAATGTCAAGTTACCTCTGAACAGCAGAATAACAAACAAAACACTATTTGTAAAGTGTTTTCATGGAGTTCATTTGAATCTCACCACAATCTGGTGAAGTATCTACCCAGGTAATAACATCCCCATTTTATAGCTGAGGAAGCAAGTTTAAGAAAGTTAGAGTTATTTGTTCAAGGCTAGAGAGGGGCAGAACTCAAGCTTCATTCTTCAGCCTTTATATGAGGGGAACTCTACTTGATAAATCAGAGAAAGATATCAAATGGAGCTGACTGGTTGAGTTCATATCAGAGTAGACAATCCCAAATGTAACTTGTTTTGACCCTAAATGGATATGAGTTTGTGGGCCATTTTTTTTTCTTTTTTTTAAAGGCAGAGTCTCACTCTGTCACGCAGGCTGGAGTGCGGTGGCATGATCTTGGCTCACTGCAACCTCCACCACATGGGTTCAAGTGATTCTTGTGTCTCAGCCTCCCAAGTATCTGGGATTACAGGTGCACACCACCATGCATGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATTTTGCCCAGGCTGGTCCTGAACTCCTGAGCTCAAGCAATCCACCTGCTCTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTGTGGGCCATTTTTGATTGGCCCACTCATTCCCAAAGGGTGCTGTACCCAGGCAAAATACTCATATATGCAACTAGAAATACTGTCTAGAGTTTACACTCATTCCTATTCAAAAAAT | GGACTATGGATGGGTCCAATTAGATGAGAGAGGTATTTAGGGAGCTGTTCTGAGTCATGAGGCTGAGGAGAAAATCCTCTCTTTAATTGAATTTCACTGTCTACGCACCTCTCAAAACACCATCTGGATATGTGGGCTCTACTCCTTGTTCTGCAGCTAGGTAGCCTGTTGAGTCACTTCTCTGGACTTCCACAAACACTTTCACTCCTGTTTACAGCACCATCCCCGTGCTATCATTACAAGCTCCTCTTCCTCTCCCAGATGTCTACAAAGAAAGGATGAGGTAAAGTCCAATGGACTTACGGTTTCCACTGACCTAAGATGGCCACTTGAAATTATCAGAACAAAATTCTCTGATGAACTTTTCTTCTAAAACAAAACTGAAAATAAATGGAAAAGAAATATGAAATGTATGAGAGTTTGAGGGAGGGACTCTAAAGTGCTTATTGTTTATTCAGCATAATACATGGTCAAACTCAATAATGTCTTTCTCTTCCCTGTTTTCTCTGGCCTCTTCCAAGTAGAAGAAAGCATTTAATATCAGAAGTCTCCATTTTTCATAACAGAGTTAGGGATATGTTTTTTTTTTCAGTTTATACTTGGAGTTTAACAATAATCATAAGCCCAAGATAGCATTTTCAGGGATAGAAATGTTCTTTTTAACAAGAAGCACAACTAAACTTTTCCACAGATTTAAAAATTAAAAGTAAATGAAACTATATTCACATTTGTTGTTGATTATTTTGTTTGCCAGATTCTTGCTCAAAACAATGTTTGACCAAAAATGGCATTAGGGTCCCAATGGCGAGACATCTCCTCAGTTACTTTGCAGCAATCCTCTTGTTCATTGGTGTGAATTTCTACCTTATTACCCCTTTTTCTTTCTCAAAAGAGAAACTCTGAAACTTGAGATTCTCACAAACATTAAAGAGTTCATCTTGTAAATAATCTGTTCTCCCCAATATACTCATTATTCCTTGGCTTCTAAACCAAAGCCTCTTCCCAGTGCTACGCAGACTTAGGTCAATGGTTGAATCTATAACCGTGCCCCCAACCCCTGCAAGTATTGGGTTACTGTTGTGGGTCTGTATTTCCATCTCACTAACATGCTGGTGGGTTATCTGGATAGTTCTTTGTGCAAACTGAACATTTCTTAATTATACTAGTGTTTTCTTGGTACTAATTCCCCCCACCCCCCCAATGAAAAACGATTATCATATATATCTATCTCAAACATAGAGATTTCAGTTAGAACTGCCTACCTGGAAGTCGTAATACTTTCTTTCATGCAGCGACATTTTAGAGATAAAAGTTCAAGTGGATTTGAAGATTCGAAGTGGAAAACAATTTGCACTGGCAAAGTTGAATAATGAAGTTACAACTTATGCTCAGTTATTTCTTGATAATGGGTAGAGTGACTTATTGTGTTTTCCACGAAGTTTGAGCTTTTGAAACTGCAGGGCACCCTACATGGCCATGACAATGATGTCTGTGGGAAAAGGAATAGCAGCTTTGAAATATTCACAACCAACACAATTTTGATTAAACAAAGAACTCTGGTTTTTAATAGTTTTGATCATTAAAAAAGTTTAAACCTGCATAGCAATCATTTCAAAAATAATTATTTAATGTTCCATAATTAAACTGTACACAACCTAGTCTTGGGACACAGAAGCCAGTGAGGTGAGTTTGGAGCAGTCTGGTGCAGTCCCAGGAGCCAGGAGTTGAGTTCTCATTGGCCTTTTTTTTTTTGTCATTCTGCTCATCTAAGTTTTTGGATAGTTGGCACAATCTGGCTCTGCTGATGAGTGGATCTGCACTGGGAAGAGAGAGCAGCTTGACCCCCATCCCTTCTTGCTTCCCCTCCCCCACTCAGCCGGATTCCTCAAAGTCGCTCAATGTCTCGGTATTTCTTCCTCAAAATAGAGACCTGGTCTTTAAAGAGGACGGGGTCGAGCCTCATCTGAGAGTGGATCAGCGGCATGTAGCCAAACCAGCTGGCAAACGTATTCATGCAGCTCTGTCGCTGGGCAAAGTGGTCAGGGTCAGCCAACGGGAAGCCCGAGAAGTCTAGGGAGAAGGAGAGAAACAAGGATAATGATGAGAGAAGTGCAAGGTGAGATGGAAACATTGCAGAAAATGGAGTCAGGCAAATGAGCAAGCAGCAAAGCTTGGGGTCTGGCCCGGCCACCAAGTCTCACCATCTATGCACCTGCTGAAAATGCAATCGCTGATATTGGTTTTTCCCAAGGTATGCTACGTTCCTCAGTGTTAAAAACACAAAAACAAAGATTCATGTTGACTTTAATTCTCTAAAATTTATTGACTAATTCTCTGGTCAGTCCACGACTTAGCAACTGAAACTCGACTACTACAGTGACTCAATCTAAAACCTCTCTTTGCACTTGGGACCAAGTACTAAGATTAAAGATGTGTTTCTGCTTTCAAAGAGTTTTCTAAATCCTTCCTGTTTATGTAGTTGATTTAGAAATACCCACCAACTTTTAGAAGTCTATCTTTCTCTCTATCCATCACTTCCTTCCTTCTACTATCTCTTTACCTTTATAAGGGTCCTACTAAATCCTTTGTTAAAAATTCACATATATAGTTGAAGAAGAACAAAATAGTGCCTTTTACATGTCACTCAAGGCTAGTGTTACGCAGCATCTAAAACTCCGTTTTCTCTTCTGTAGCCTCCCCATTGACGTGACTCCATGAGGATGAGAAGGTGAGATTCAGTGGTATATAGAGCATGTTGCTGTATGACTAACTTTATACTAAAATCTCAAAATTCTGTTCTTCTCTTAACCCAAGAATTGTTGGCTTTCCTGCTTGACTAAAACCCCCAAAGGTTACTTTTTAAAGGGCAATCAGCCCTCCAAAGAATCACTGCTCACCCAGAATAAAGATTAACTCTCGACAAATAGAAAAGATGGCTACCATGTTTTTAGCTCTCTGTGTTGCCCCTAAAGTTGGTTAAATATTTTTAGATCATGCAAATGATTGGCATTGATTTAAAAAGAATGCCTTAATGACTGGAGTGCTGAAATTTAAATAGAATGACTAAGCACATTGTCTTTCAATCCCTGTTTTTATGAAACATGGAAAAGATGGGCTGCCCAATTATGGGGGAACCCCCACAAGCCCATTTATGTCAATAGGCAAGTCTTTAATGATGTATATGTATGCACGTGTGTTCTGTGTATTTGTTGTACTCACAGTTTTAGAAAAATACTTTCATGGGAAGATACATTTTAGTGTGAGAAGCAGTAAGAGTCACTTCAGAATCATAGTGTCAACATGCTCGAAAATAACATTGAAGATAAACACAAATGTCAAGTTACCTCTGAACAGCAGAATAACAAACAAAACACTATTTGTAAAGTGTTTTCATGGAGTTCATTTGAATCTCACCACAATCTGGTGAAGTATCTACCCAGGTAATAACATCCCCATTTTATAGCTGAGGAAGCAAGTTTAAGAAAGTTAGAGTTATTTGTTCAAGGCTAGAGAGGGGCAGAACTCAAGCTTCATTCTTCAGCCTTTATATGAGGGGAACTCTACTTGATAAATCAGAGAAAGATATCAAATGGAGCTGACTGGTTGAGTTCATATCAGAGTAGACAATCCCAAATGTAACTTGTTTTGACCCTAAATGGATATGAGTTTGTGGGCCATTTTTTTTTCTTTTTTTTAAAGGCAGAGTCTCACTCTGTCACGCAGGCTGGAGTGCGGTGGCATGATCTTGGCTCACTGCAACCTCCACCACATGGGTTCAAGTGATTCTTGTGTCTCAGCCTCCCAAGTATCTGGGATTACAGGTGCACACCACCATGCATGGCTAATTTTTGTATTTTTAGTAGAGATGGGGTTTTGCCATTTTGCCCAGGCTGGTCCTGAACTCCTGAGCTCAAGCAATCCACCTGCTCTGGCCTCCCAAAATGCTGGGATTATAGGCATGAGCCACTGTGCCCGGCCTGTGGGCCATTTTTGATTGGCCCACTCATTCCCAAAGGGTGCTGTACCCAGGCAAAATACTCATATATGCAACTAGAAATACTGTCTAGAGTTTACACTCATTCCTATTCAAAAAATN | pathogenic | 138,530 |
Clinical significance of chromosome 8, position 117807326, gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Multiple_congenital_exostosis'] | TTTACACATGATCTATATATTATAAAGCTGCTTAACAATTTTAATCATTGGCTTAATCAGAACTGTATTTAATATTATCCCTTGACTCTGAGTCCAACAATAGACTGTTCTATATTTGTGCCCTATAAACCATATATATTTCAATCCTGTTAGAGCAAAATCTGAATTAATGGGGTGGTCAATCGTAACAGAAAACCCATAATTAATTTGAATTATTTCTCATCCTACTGTTTTTAAAATGTATTTATATACATATAGCATATATTTATAGGAAAAATCATTTGAGTGAATCAAATTCTTAGAGTGGTGGTGGCAGAAGCAATAGGAACAATGAACTTTCAAGAAGTGAAATCTTGAGACCAAGAATCAGTCAGCCTAAATGTTTATGCCTTGAGCATTTCCAAGCTATCCCTGAGATAGCAAAATTCCCTATTCTTTACTAAAAAGACTAAGGCAAGATTGGTGTGTTCACTAATGATAGAAGAGCAGGTATTTTGTTACTGGTTGAGTGGGGAATGTTAGCTATCTACCCTCACTAGTTTGGCAATCTTACTCCAGTCCCCTGGCTTTAAAGACCAAATATATGCAAACAACTGCCAAATTTGTATCTCCACCCCTGAGCTTTTTCCATATATCCTTTTGGATGTCTTAACATGTCCAAGACTGAACCTATATATTTTCCCTCATACTTGTTCCATCTGTAGTTTTCCTCATCTCTGTTGATCAGCCCTCTAATCTTCCAGTGTTTCAGGTCAAAAGACTTGGAGTCATCAAACTCTACATCCAGACTCTCTAGGCATCATGCTAAAGCATCTTCAAAATAATCTGATCACTACTTACCATGGCCACCATTCACTTCCTGGTCCCAGGATCCCACCATCTCTTGCCTAGATAATGTCAATCACTTCCTAATAGGGCTTCTGCTTCAACTCTGGGTCTGTTATAGCCTCTTCTCAACATAGAATCCACAGTGGATGCATAAAAGAAAAGCCGGATTTCTCCTCCCTGTTCAAACCCTGTCCTCCTCCCCTGTCACTTAGAGAAAAAGTCAAGTCTTCATGATGGACATCAAGGTCCTGCAGGATTTATCACTGTGTTAAAACTGCCTACAGTATTCGGTACAGTGACATGCTGTACATGTCACACCCTGTTCAAACCCTGCCCTCCTCCCATATCACTTAGAGAAAAAGTCAAGTCCTCATGATGGACATCAAGGTCGTGCATCCATGCCCCCTGACTTTTCTGACTTCCTGTCACCCATTCCACCCAGTCACAGTGGTCTCCTCGATGGTTCTCCAGTATTCTGCCTCAGGGCATTTATTCTCGCTGTTCTCCTGCCACAACACTCTTGGTGCACATGTCCTCTTGACTTCCTGTCCTTCAAGTCTCTGCTCAAATCTCACCTGTGCAATCAGAATCACCCTGGACACCCCCAATCTGCCCCATCTCCACCTTCAGCACCCTTGATCCTTTTCTACACTTTGTCTGTTATATCACTTATCTCCTTAATAAACTATGGAATTATTATGTAGACAGTCTTTCTTTGTTAGAATATAAGACCTGCATTGGCAAGGAATTTTTTCTGCTTTACTCAGTGATGAATCCCAAGCACCTAGAACAGTGCCCTTGGGTGCTGACTTAGGTATTTACTTTTGTTGTTGTTATTCTAAATATTCAGTTACCTAATATGCCCTGAGAGTATTTTCACACTTCAGACCAACTGAAAATGTTACTCTACCATAATTTCTGGAAATGAAACATGCCAAGAGGTTTCACTGGTTTCAAAAACACACATTTGACACATCAGCAAAACTTAAGCGGGGATACAGACTAATTTTCCTCAATGCTGTTAACAAGATTTGGCCTTAGTTCCTATTTATGCAGCAGCCAATATAAAAAGCTATGTAAAGTCTGTAAGAGACATGTCCAGATTCCTCACTTGTGGTAAATAGCAGCTCCTGTCAACACCATGGAGTAGTCGTTCGTCCACTTTGATGTGTATCCCCACCGCTCCTTAGAGTTATCCCAGAAGTGGCTGCGCGCGGGGTACCCCACAATCCTCTCAGGGAAGCTCTGCCACACTGTGAAGGCGAAATCCACCTGCAGGCAGAACACAAGCCAAACAAGCAATCAACAGTGTTAACAAATGTCAACAAAACATTACCTTCTCCCCACTAATTCATAATGCAAAATCCGGGGACTGTGGCGAAACATTAATTCTATGTATTCATCAGCAAATTAAACTGACTGCTTGACATTTTGCCCCATAATTATGCACATTTTAATGTTTTCTGTTAAAGAAACTTCAGAGTAGTATGGAAATGAAAGGAAGAAAAAAATTTGCTGATATGCCCTTTAAAAATCCAGTCTGTTCAAGCTAAAACATAAGTTGAAAAAGCTTCTTTTCCCCCTTCCTCAAAGGTGCACGTGCCTTGATTCACGTGAGACACAAACACATCTGTTTTATAAATGAGAAATTTCCCATGTATATCCAAAGAATGAATATACAACATATATCATACCCAGCATATATCAAAGCCAAAGTGCCTAAAATAAAAGCACCCTCTTAAGAGTAAGAGAAATAACTTTAAAAAAAAAACACCACAAGTTCTAACAGGAATACAGAGCAGGTATCATAAAGAAAACATAATTCAGGCTTCTTAGGTTTGAAGATGCACAGTTTAAGAGACACTAGAAGAAAGCATCAACAGTGAAAATCACTAAGAATAAGTGGGGACAAGAACAACTGAAGCCACAGAATTATTTTAAAGGAAATGCAGCTAAATGTCTCTCCGGTGCTTATAGTAGCCCAAAGCAGGTGCTTCTGAACCTGCTATAAACCAGCACTTATAGTTAGCAAGTGATCTGTTTTCAAATGCATAAACTCACTTCTGATTTCTATGATCATTTGATGAATGGTAAATCAAAATAATAAACAGAAAATAAAAATAACAAAAATAGTGACAGCAAACAATCATATAATGCTCATAATTGTGAAATGTTATAATACAACAGGTGCAGCTATAGGTGCTTATCCATTTTAACTCATTCCATCCTCACAATACCCCTGTAAGGCAGGGGCTTTTACATTCTTCAGTTTACAGAAAGGGAAACTAAGATATAAGTTCAAGTAATTTGCTGAGCTAATAAGTGGCAGAGCCAAGATTCAAACTCAGGCAGTCTGGTTTCAAATGTGCTACGTACTTTATCAAAACTTCTCTTTTGGCTCTGTTACTCCAGTGTTAAAAGCAATTTGTCTCTTATACACGCTATGATTCACCTCGTTATCTTTGCCGTATCTCTTCTGGATAAGCAATACAAATGGAAATTTCATCTGTTTCGCAAATATTTTGAGTCCTGGCACTGTGATGGTAGCTGGGGGACGGAGGGATGCTGCTAGGTCCAGGTCCTGCCCTCTCAGAGGTTCCAAAGCAGGACCTGTGATGGTTAATTGTATGTGTCAATGTGAGTATACCATGAAGTGCCCAGATTAAAGATGATTTCTGGGTGTGTCTGTGAGGGTGTTTCTGGATGAGACTAACATTGGAATCCACGGGTTCAGTAAAGCAGACTGCCCTCGCCAGTGCAGATGGGCAATATCCAGTCAGTTCAGGGCCTGAATACAAAACAAAGGTGAAGGAAGGAGGAATTCCTCCCCTTTTTCTTTTTGCCTGCCGGCTGAGCTGGGACATCGAACTTCTATTGCCCTTGGACTGGGATTTACATCATTGGCTCCCTGGTTCTCAGGCTGTAGGACTCTGTCTAGAATTACACCAGTAGCCTTCCTGGGTCTGTAGCCTGCAGACGGCAGATCATGGGATTTCTCAGCCCCCAGGATTATGTGAGCCAATTACTCATAATAAATCTCTCTCTCAGTGTATGTATGTATGTATGTATGTATGTGCATGTGTGTAGGTATATATATGTGTGTGTGTGTATAAATATATATATATATATATATATATATTATGTTCTATTGATTCTGTTTGCCTGAAAAATCCTAATACACTGCCCTATCTTAAGATAAGGAAGACTTAAAAATATGGCTTGTTCCCCAAAACTATAACATCCACACGGGGCCAGGCACAGTGTCTCA | TTTACACATGATCTATATATTATAAAGCTGCTTAACAATTTTAATCATTGGCTTAATCAGAACTGTATTTAATATTATCCCTTGACTCTGAGTCCAACAATAGACTGTTCTATATTTGTGCCCTATAAACCATATATATTTCAATCCTGTTAGAGCAAAATCTGAATTAATGGGGTGGTCAATCGTAACAGAAAACCCATAATTAATTTGAATTATTTCTCATCCTACTGTTTTTAAAATGTATTTATATACATATAGCATATATTTATAGGAAAAATCATTTGAGTGAATCAAATTCTTAGAGTGGTGGTGGCAGAAGCAATAGGAACAATGAACTTTCAAGAAGTGAAATCTTGAGACCAAGAATCAGTCAGCCTAAATGTTTATGCCTTGAGCATTTCCAAGCTATCCCTGAGATAGCAAAATTCCCTATTCTTTACTAAAAAGACTAAGGCAAGATTGGTGTGTTCACTAATGATAGAAGAGCAGGTATTTTGTTACTGGTTGAGTGGGGAATGTTAGCTATCTACCCTCACTAGTTTGGCAATCTTACTCCAGTCCCCTGGCTTTAAAGACCAAATATATGCAAACAACTGCCAAATTTGTATCTCCACCCCTGAGCTTTTTCCATATATCCTTTTGGATGTCTTAACATGTCCAAGACTGAACCTATATATTTTCCCTCATACTTGTTCCATCTGTAGTTTTCCTCATCTCTGTTGATCAGCCCTCTAATCTTCCAGTGTTTCAGGTCAAAAGACTTGGAGTCATCAAACTCTACATCCAGACTCTCTAGGCATCATGCTAAAGCATCTTCAAAATAATCTGATCACTACTTACCATGGCCACCATTCACTTCCTGGTCCCAGGATCCCACCATCTCTTGCCTAGATAATGTCAATCACTTCCTAATAGGGCTTCTGCTTCAACTCTGGGTCTGTTATAGCCTCTTCTCAACATAGAATCCACAGTGGATGCATAAAAGAAAAGCCGGATTTCTCCTCCCTGTTCAAACCCTGTCCTCCTCCCCTGTCACTTAGAGAAAAAGTCAAGTCTTCATGATGGACATCAAGGTCCTGCAGGATTTATCACTGTGTTAAAACTGCCTACAGTATTCGGTACAGTGACATGCTGTACATGTCACACCCTGTTCAAACCCTGCCCTCCTCCCATATCACTTAGAGAAAAAGTCAAGTCCTCATGATGGACATCAAGGTCGTGCATCCATGCCCCCTGACTTTTCTGACTTCCTGTCACCCATTCCACCCAGTCACAGTGGTCTCCTCGATGGTTCTCCAGTATTCTGCCTCAGGGCATTTATTCTCGCTGTTCTCCTGCCACAACACTCTTGGTGCACATGTCCTCTTGACTTCCTGTCCTTCAAGTCTCTGCTCAAATCTCACCTGTGCAATCAGAATCACCCTGGACACCCCCAATCTGCCCCATCTCCACCTTCAGCACCCTTGATCCTTTTCTACACTTTGTCTGTTATATCACTTATCTCCTTAATAAACTATGGAATTATTATGTAGACAGTCTTTCTTTGTTAGAATATAAGACCTGCATTGGCAAGGAATTTTTTCTGCTTTACTCAGTGATGAATCCCAAGCACCTAGAACAGTGCCCTTGGGTGCTGACTTAGGTATTTACTTTTGTTGTTGTTATTCTAAATATTCAGTTACCTAATATGCCCTGAGAGTATTTTCACACTTCAGACCAACTGAAAATGTTACTCTACCATAATTTCTGGAAATGAAACATGCCAAGAGGTTTCACTGGTTTCAAAAACACACATTTGACACATCAGCAAAACTTAAGCGGGGATACAGACTAATTTTCCTCAATGCTGTTAACAAGATTTGGCCTTAGTTCCTATTTATGCAGCAGCCAATATAAAAAGCTATGTAAAGTCTGTAAGAGACATGTCCAGATTCCTCACTTGTGGTAAATAGCAGCTCCTGTCAACACCATGGAGTAGTCGTTCGTCCACTTTGATGTGTATCCCCACCGCTCCTTAGAGTTATCCCAGAAGTGGCTGCGCGCGGGGTACCCACAATCCTCTCAGGGAAGCTCTGCCACACTGTGAAGGCGAAATCCACCTGCAGGCAGAACACAAGCCAAACAAGCAATCAACAGTGTTAACAAATGTCAACAAAACATTACCTTCTCCCCACTAATTCATAATGCAAAATCCGGGGACTGTGGCGAAACATTAATTCTATGTATTCATCAGCAAATTAAACTGACTGCTTGACATTTTGCCCCATAATTATGCACATTTTAATGTTTTCTGTTAAAGAAACTTCAGAGTAGTATGGAAATGAAAGGAAGAAAAAAATTTGCTGATATGCCCTTTAAAAATCCAGTCTGTTCAAGCTAAAACATAAGTTGAAAAAGCTTCTTTTCCCCCTTCCTCAAAGGTGCACGTGCCTTGATTCACGTGAGACACAAACACATCTGTTTTATAAATGAGAAATTTCCCATGTATATCCAAAGAATGAATATACAACATATATCATACCCAGCATATATCAAAGCCAAAGTGCCTAAAATAAAAGCACCCTCTTAAGAGTAAGAGAAATAACTTTAAAAAAAAAACACCACAAGTTCTAACAGGAATACAGAGCAGGTATCATAAAGAAAACATAATTCAGGCTTCTTAGGTTTGAAGATGCACAGTTTAAGAGACACTAGAAGAAAGCATCAACAGTGAAAATCACTAAGAATAAGTGGGGACAAGAACAACTGAAGCCACAGAATTATTTTAAAGGAAATGCAGCTAAATGTCTCTCCGGTGCTTATAGTAGCCCAAAGCAGGTGCTTCTGAACCTGCTATAAACCAGCACTTATAGTTAGCAAGTGATCTGTTTTCAAATGCATAAACTCACTTCTGATTTCTATGATCATTTGATGAATGGTAAATCAAAATAATAAACAGAAAATAAAAATAACAAAAATAGTGACAGCAAACAATCATATAATGCTCATAATTGTGAAATGTTATAATACAACAGGTGCAGCTATAGGTGCTTATCCATTTTAACTCATTCCATCCTCACAATACCCCTGTAAGGCAGGGGCTTTTACATTCTTCAGTTTACAGAAAGGGAAACTAAGATATAAGTTCAAGTAATTTGCTGAGCTAATAAGTGGCAGAGCCAAGATTCAAACTCAGGCAGTCTGGTTTCAAATGTGCTACGTACTTTATCAAAACTTCTCTTTTGGCTCTGTTACTCCAGTGTTAAAAGCAATTTGTCTCTTATACACGCTATGATTCACCTCGTTATCTTTGCCGTATCTCTTCTGGATAAGCAATACAAATGGAAATTTCATCTGTTTCGCAAATATTTTGAGTCCTGGCACTGTGATGGTAGCTGGGGGACGGAGGGATGCTGCTAGGTCCAGGTCCTGCCCTCTCAGAGGTTCCAAAGCAGGACCTGTGATGGTTAATTGTATGTGTCAATGTGAGTATACCATGAAGTGCCCAGATTAAAGATGATTTCTGGGTGTGTCTGTGAGGGTGTTTCTGGATGAGACTAACATTGGAATCCACGGGTTCAGTAAAGCAGACTGCCCTCGCCAGTGCAGATGGGCAATATCCAGTCAGTTCAGGGCCTGAATACAAAACAAAGGTGAAGGAAGGAGGAATTCCTCCCCTTTTTCTTTTTGCCTGCCGGCTGAGCTGGGACATCGAACTTCTATTGCCCTTGGACTGGGATTTACATCATTGGCTCCCTGGTTCTCAGGCTGTAGGACTCTGTCTAGAATTACACCAGTAGCCTTCCTGGGTCTGTAGCCTGCAGACGGCAGATCATGGGATTTCTCAGCCCCCAGGATTATGTGAGCCAATTACTCATAATAAATCTCTCTCTCAGTGTATGTATGTATGTATGTATGTATGTGCATGTGTGTAGGTATATATATGTGTGTGTGTGTATAAATATATATATATATATATATATATATTATGTTCTATTGATTCTGTTTGCCTGAAAAATCCTAATACACTGCCCTATCTTAAGATAAGGAAGACTTAAAAATATGGCTTGTTCCCCAAAACTATAACATCCACACGGGGCCAGGCACAGTGTCTCAN | pathogenic | 138,544 |
Is the genetic mutation found on chromosome 8 at position 117812892, within the gene EXT1 (exostosin glycosyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Multiple_congenital_exostosis'] | ATCGAGGCAGGATAGAGAGAGAGGTCAGTGTATCTCTTCTCTGCTCCCTCTCTCCTTTGCCATTAGAGTTCTGGCAGTAGCCACGTCCTTCCATGATCATAGCACTTGTAGAGCAGCCTCTCCATCCTAGTGCCATCTCTCAGGGCCTTTGAAAGAAGGAGTTCCTTCTCTAACTCCTTCAGGCCAAAGGGAGGAGCTGCTTCCTGCTGTCATTACTCACCAGGTGCCTCATTCTCTCTTATGGGGTCTTTTAACCCCATCTACACCTCCCTAAGGAATCCAAAGTTCCTTCATTTGAATCATCTGATTTGAATTCAGTTTGTTGCCAGGACTCAGATGGATATAGCCTGGAACTGTGTAACTGAAGTACCTGGCATGGAGACCAGGACAAAGAAATCTCTCAATAAATACTTGTTGAATGAATGTGTTCCAGCTTCCCTTGCAGAAAGTGGCAGAAAAATGCAAGCCAGAGTGACCTGTACCCTGTATTCCATAGCTGTCTTTCCCTATGAATGTTAAGCTTATCAACATCCCTTCCTCCTGCCAACCTACACATGACACAATTGGCGGTGTGTCCACCTTTAATCCCCAAAGCATGCATCCCCCCACCCTGGCCCAACCACTCATTCAACAAGTATTTATAGAGCTTCGGCTGCATAGAAAGCATTTTAACAAGGTGAGGTCCAGGACATTTTGTCCTGGGATTATTTAGGTTGCCCTTTGACATAACATCTATGCAACTCTATCTGATGGCACCTTGAAAGCATCTATGGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTACGATGTCCGCTCACTGTAACCTCTGCCTCTTAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGAATACAGGCACCTGGACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCAGGCCACATCTGTGGAATTTCAAGGAGACACTGAGTTCACCTAGGCCAACATTGAGTCTTGGCTCTGTGGGCAGCAGGCCATTAGAACTAGATTGGTGTCCAGGAAAATGCAGGTTACACTGATGTTTACATTAAAAGGAAAATGATTGTGAACAAAAAGGAAAAAAGACAGGGAGAGGGAGGGGAAAGGTGTAAGTAGTTACGTCTCCATGCTTTTTAGTAGTTGCCATTAATAATGTATTTCTCATATACTCCATTTTTATATAGCTGTCTTTGGTCCTCTGCATGGTTTAAAGGAAGGTTTCAGAGATCAATACTCATTCGAGTTGTAAAAATTGGTTTTCTACCATATCTATCTTTCCTCCTCTCTCTCTCCTCCACGCGCATTCTTTAGGCAATCTTATTTTTGGCACAACTACCTGAACATCTGAAATAGGAATCTCCATCACAACCTTGAAGTGAAACCGTTTGCTCTTGTATAGGTGAAAGAAAATGAGCTCTTTAAACCAAGACAGAAAAGCTGCCTTTAGAGCTCCACATAGAGTCTCCTAACTGAGGCAATAGGATACGTGGAGAGGAATGGGATTATCTCCTCCGGAAAGCATGGTTTCAACCTAATGCAGAACACGCACCCTCCCCCTTCCCCTCAGTTCTGCGCAACTGCTCACAACTGTGCTGTTTAAAAACAAAAAAGGAGGGCAGGCCTGGGAGGAGGGGTGAGGCCCAGTTATGCAAATGAGGAGCCAATTAGCAGAGACAACAAAGGGGAGATGCCCGCCTCAGAGTGCCAGGTGGCAGCAAGGTGCTAACAGGAATCGGGCTGATTAAAACCAGCGCTGTAGGAAGTTTTGAAAAATGTTTTCAACTTCTGCCAAGGCACGGCTAAAAGAAGCATTAGCATCGTGCAACATGAGGTGACTGCCTGAACAGCCCACCTGCTGCTCCTCAGGCATGGGTTCTTACCTCTGTTGTTGAAAGCACCGTGTCCTCGTCAAGGCTGAGCACGGCGTCTGTGATGATGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGAGGGAAAGAGGTAACTTCAGAGTCTTGTTTTCAGGACAATTCTCCCATCCTCACCTGCATAAAGAATGCGCTACTATCATGTCACCCCTCAACACCGAAGGAATCTCATTTCCCATCAATGCAGATGTATTTGTTCAACAATTATTGGGCACCTACTGTGTAGCAGACATCTTGCTTGTCAAAGAGGGTACAAAGATAAATCAGACATGTTCCCTGTCTTTGAAGAGTTCATGGTCTGTAGAGGAGACCAAGAAGCAGATGACCAGTCTTTGCTTGATACAAAAAATGCCAGGAGACCACAGGATGGAGCAACTAGCTGTCTGGAAGAGCAGGTGAAGGCCTCATAGAAGTGACATTTAAGCAGGACCCTGATGGGCAGAAAGAATTCACCAGGTATAGATAGTAATGAAGTATTAAAGACAAGACTTGGCAGATGCAGAGGCACTGAGCAGAGAACCTGCATCCTGACACCCACTCTTCCCAACCGAAAGAGTGAATGGATGGAGAAGTGATTCCAAGTGTGGACACAAACCACGGGGAGAGCAGATCACTGTAGAAAGTGCTGCTTTTACAAATTACAAACATTTACAAATTAAAATATGTATTAGCACAGATTAGAAAAAATATATACACATATATTAGCAGCTACAGCAATCAAAGGTAATATTAAAGTTACAAATAACTTCATTAAAATGAGAAGTATACTGATTTAAAGAAATATATTAGGCCAGGCGTGGTGGCTCATGACTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACAAAAAAAGAGAAGAAGAAGAAGAAGAAAGAAGAAGGAGGAGAAGGAGGAGAAGGAGGAGGAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAAATATTAAATAATAGCACATATGATCCATGGATTTAGAAAAATTGTGAAGGTGGTGTATGCATAAAGTTTGGGCAGTTCTGGAATAAGGAAAGGTGGACTACGTGTGCACACACAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGGGGCTTTGGAGATTATGGCATCAGCTGGAAAAATTGAGGGTGGAGAGGTTACCCTGTGATAGTCACAACTTAAACCTTTGTGTTGAATGTACCATAGAGGAACTAACCATAAGAATGCTGACACCATAAGAATAACATTTTTTGAACATTTACTGTGTGCCAGGATATGTTGCAAGTCCTTCATATATATCATCGTGTTTCATCTTTATAACAACCCCATTTTACAGGGAGGGAAACTGAGATACACAGGTTAAGTATCTTGCCCAAAACGGACCCAGGATTTTCCCCCAGATGGTGTGACTCTATAGAGCACCTTGGCCACCGGGCTGTATCTGAATGGAAAGGACCTCAAAAGTGAATTTAGGAACACATATGCCAATCATATGCTCATCACCTTCTTCCAGAAGTTATAGTAAGGATGATGACATCCTCTCTGAATTCACACCTGCCATCAACTTTGAAGAGACAAAGGCCAGGGAAAGAAGCAACTTAACACTGCAGACAAAGGGAAAGAGGAAAAGGGAGGTACCTAGCCAGCTGCCAGAGCTGCAGTCTCCCCAAATCTGAGTACCCCTAGGAGCCAGCTCATCTGCAGGCCTCATCTCAAACTCGGTTTCTTTGCCGGCGAAGCTACCAGAGCACCTAGGACTTTAATGCATGGACAGTGGCCAC | ATCGAGGCAGGATAGAGAGAGAGGTCAGTGTATCTCTTCTCTGCTCCCTCTCTCCTTTGCCATTAGAGTTCTGGCAGTAGCCACGTCCTTCCATGATCATAGCACTTGTAGAGCAGCCTCTCCATCCTAGTGCCATCTCTCAGGGCCTTTGAAAGAAGGAGTTCCTTCTCTAACTCCTTCAGGCCAAAGGGAGGAGCTGCTTCCTGCTGTCATTACTCACCAGGTGCCTCATTCTCTCTTATGGGGTCTTTTAACCCCATCTACACCTCCCTAAGGAATCCAAAGTTCCTTCATTTGAATCATCTGATTTGAATTCAGTTTGTTGCCAGGACTCAGATGGATATAGCCTGGAACTGTGTAACTGAAGTACCTGGCATGGAGACCAGGACAAAGAAATCTCTCAATAAATACTTGTTGAATGAATGTGTTCCAGCTTCCCTTGCAGAAAGTGGCAGAAAAATGCAAGCCAGAGTGACCTGTACCCTGTATTCCATAGCTGTCTTTCCCTATGAATGTTAAGCTTATCAACATCCCTTCCTCCTGCCAACCTACACATGACACAATTGGCGGTGTGTCCACCTTTAATCCCCAAAGCATGCATCCCCCCACCCTGGCCCAACCACTCATTCAACAAGTATTTATAGAGCTTCGGCTGCATAGAAAGCATTTTAACAAGGTGAGGTCCAGGACATTTTGTCCTGGGATTATTTAGGTTGCCCTTTGACATAACATCTATGCAACTCTATCTGATGGCACCTTGAAAGCATCTATGGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTACGATGTCCGCTCACTGTAACCTCTGCCTCTTAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGAATACAGGCACCTGGACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCAGGCCACATCTGTGGAATTTCAAGGAGACACTGAGTTCACCTAGGCCAACATTGAGTCTTGGCTCTGTGGGCAGCAGGCCATTAGAACTAGATTGGTGTCCAGGAAAATGCAGGTTACACTGATGTTTACATTAAAAGGAAAATGATTGTGAACAAAAAGGAAAAAAGACAGGGAGAGGGAGGGGAAAGGTGTAAGTAGTTACGTCTCCATGCTTTTTAGTAGTTGCCATTAATAATGTATTTCTCATATACTCCATTTTTATATAGCTGTCTTTGGTCCTCTGCATGGTTTAAAGGAAGGTTTCAGAGATCAATACTCATTCGAGTTGTAAAAATTGGTTTTCTACCATATCTATCTTTCCTCCTCTCTCTCTCCTCCACGCGCATTCTTTAGGCAATCTTATTTTTGGCACAACTACCTGAACATCTGAAATAGGAATCTCCATCACAACCTTGAAGTGAAACCGTTTGCTCTTGTATAGGTGAAAGAAAATGAGCTCTTTAAACCAAGACAGAAAAGCTGCCTTTAGAGCTCCACATAGAGTCTCCTAACTGAGGCAATAGGATACGTGGAGAGGAATGGGATTATCTCCTCCGGAAAGCATGGTTTCAACCTAATGCAGAACACGCACCCTCCCCCTTCCCCTCAGTTCTGCGCAACTGCTCACAACTGTGCTGTTTAAAAACAAAAAAGGAGGGCAGGCCTGGGAGGAGGGGTGAGGCCCAGTTATGCAAATGAGGAGCCAATTAGCAGAGACAACAAAGGGGAGATGCCCGCCTCAGAGTGCCAGGTGGCAGCAAGGTGCTAACAGGAATCGGGCTGATTAAAACCAGCGCTGTAGGAAGTTTTGAAAAATGTTTTCAACTTCTGCCAAGGCACGGCTAAAAGAAGCATTAGCATCGTGCAACATGAGGTGACTGCCTGAACAGCCCACCTGCTGCTCCTCAGGCATGGGTTCTTACCTCTGTTGTTGAAAGCACCGTGTCCTCGTCAAGGCTGAGTCCTCGTCAAGGCTGAGCACGGCGTCTGTGATGATGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGAGGGAAAGAGGTAACTTCAGAGTCTTGTTTTCAGGACAATTCTCCCATCCTCACCTGCATAAAGAATGCGCTACTATCATGTCACCCCTCAACACCGAAGGAATCTCATTTCCCATCAATGCAGATGTATTTGTTCAACAATTATTGGGCACCTACTGTGTAGCAGACATCTTGCTTGTCAAAGAGGGTACAAAGATAAATCAGACATGTTCCCTGTCTTTGAAGAGTTCATGGTCTGTAGAGGAGACCAAGAAGCAGATGACCAGTCTTTGCTTGATACAAAAAATGCCAGGAGACCACAGGATGGAGCAACTAGCTGTCTGGAAGAGCAGGTGAAGGCCTCATAGAAGTGACATTTAAGCAGGACCCTGATGGGCAGAAAGAATTCACCAGGTATAGATAGTAATGAAGTATTAAAGACAAGACTTGGCAGATGCAGAGGCACTGAGCAGAGAACCTGCATCCTGACACCCACTCTTCCCAACCGAAAGAGTGAATGGATGGAGAAGTGATTCCAAGTGTGGACACAAACCACGGGGAGAGCAGATCACTGTAGAAAGTGCTGCTTTTACAAATTACAAACATTTACAAATTAAAATATGTATTAGCACAGATTAGAAAAAATATATACACATATATTAGCAGCTACAGCAATCAAAGGTAATATTAAAGTTACAAATAACTTCATTAAAATGAGAAGTATACTGATTTAAAGAAATATATTAGGCCAGGCGTGGTGGCTCATGACTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACAAAAAAAGAGAAGAAGAAGAAGAAGAAAGAAGAAGGAGGAGAAGGAGGAGAAGGAGGAGGAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAAATATTAAATAATAGCACATATGATCCATGGATTTAGAAAAATTGTGAAGGTGGTGTATGCATAAAGTTTGGGCAGTTCTGGAATAAGGAAAGGTGGACTACGTGTGCACACACAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGGGGCTTTGGAGATTATGGCATCAGCTGGAAAAATTGAGGGTGGAGAGGTTACCCTGTGATAGTCACAACTTAAACCTTTGTGTTGAATGTACCATAGAGGAACTAACCATAAGAATGCTGACACCATAAGAATAACATTTTTTGAACATTTACTGTGTGCCAGGATATGTTGCAAGTCCTTCATATATATCATCGTGTTTCATCTTTATAACAACCCCATTTTACAGGGAGGGAAACTGAGATACACAGGTTAAGTATCTTGCCCAAAACGGACCCAGGATTTTCCCCCAGATGGTGTGACTCTATAGAGCACCTTGGCCACCGGGCTGTATCTGAATGGAAAGGACCTCAAAAGTGAATTTAGGAACACATATGCCAATCATATGCTCATCACCTTCTTCCAGAAGTTATAGTAAGGATGATGACATCCTCTCTGAATTCACACCTGCCATCAACTTTGAAGAGACAAAGGCCAGGGAAAGAAGCAACTTAACACTGCAGACAAAGGGAAAGAGGAAAAGGGAGGTACCTAGCCAGCTGCCAGAGCTGCAGTCTCCCCAAATCTGAGTACCCCTAGGAGCCAGCTCATCTGCAGGCCTCATCTCAAACTCGGTTTCTTTGCCGGCGAAGCTACCAGAGCACCTAGGACTTTAAT | pathogenic | 138,551 |
Regarding the variant found on chromosome 8 at position 117812937 in gene EXT1 (exostosin glycosyltransferase 1): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | CCCTCTCTCCTTTGCCATTAGAGTTCTGGCAGTAGCCACGTCCTTCCATGATCATAGCACTTGTAGAGCAGCCTCTCCATCCTAGTGCCATCTCTCAGGGCCTTTGAAAGAAGGAGTTCCTTCTCTAACTCCTTCAGGCCAAAGGGAGGAGCTGCTTCCTGCTGTCATTACTCACCAGGTGCCTCATTCTCTCTTATGGGGTCTTTTAACCCCATCTACACCTCCCTAAGGAATCCAAAGTTCCTTCATTTGAATCATCTGATTTGAATTCAGTTTGTTGCCAGGACTCAGATGGATATAGCCTGGAACTGTGTAACTGAAGTACCTGGCATGGAGACCAGGACAAAGAAATCTCTCAATAAATACTTGTTGAATGAATGTGTTCCAGCTTCCCTTGCAGAAAGTGGCAGAAAAATGCAAGCCAGAGTGACCTGTACCCTGTATTCCATAGCTGTCTTTCCCTATGAATGTTAAGCTTATCAACATCCCTTCCTCCTGCCAACCTACACATGACACAATTGGCGGTGTGTCCACCTTTAATCCCCAAAGCATGCATCCCCCCACCCTGGCCCAACCACTCATTCAACAAGTATTTATAGAGCTTCGGCTGCATAGAAAGCATTTTAACAAGGTGAGGTCCAGGACATTTTGTCCTGGGATTATTTAGGTTGCCCTTTGACATAACATCTATGCAACTCTATCTGATGGCACCTTGAAAGCATCTATGGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTACGATGTCCGCTCACTGTAACCTCTGCCTCTTAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGAATACAGGCACCTGGACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCAGGCCACATCTGTGGAATTTCAAGGAGACACTGAGTTCACCTAGGCCAACATTGAGTCTTGGCTCTGTGGGCAGCAGGCCATTAGAACTAGATTGGTGTCCAGGAAAATGCAGGTTACACTGATGTTTACATTAAAAGGAAAATGATTGTGAACAAAAAGGAAAAAAGACAGGGAGAGGGAGGGGAAAGGTGTAAGTAGTTACGTCTCCATGCTTTTTAGTAGTTGCCATTAATAATGTATTTCTCATATACTCCATTTTTATATAGCTGTCTTTGGTCCTCTGCATGGTTTAAAGGAAGGTTTCAGAGATCAATACTCATTCGAGTTGTAAAAATTGGTTTTCTACCATATCTATCTTTCCTCCTCTCTCTCTCCTCCACGCGCATTCTTTAGGCAATCTTATTTTTGGCACAACTACCTGAACATCTGAAATAGGAATCTCCATCACAACCTTGAAGTGAAACCGTTTGCTCTTGTATAGGTGAAAGAAAATGAGCTCTTTAAACCAAGACAGAAAAGCTGCCTTTAGAGCTCCACATAGAGTCTCCTAACTGAGGCAATAGGATACGTGGAGAGGAATGGGATTATCTCCTCCGGAAAGCATGGTTTCAACCTAATGCAGAACACGCACCCTCCCCCTTCCCCTCAGTTCTGCGCAACTGCTCACAACTGTGCTGTTTAAAAACAAAAAAGGAGGGCAGGCCTGGGAGGAGGGGTGAGGCCCAGTTATGCAAATGAGGAGCCAATTAGCAGAGACAACAAAGGGGAGATGCCCGCCTCAGAGTGCCAGGTGGCAGCAAGGTGCTAACAGGAATCGGGCTGATTAAAACCAGCGCTGTAGGAAGTTTTGAAAAATGTTTTCAACTTCTGCCAAGGCACGGCTAAAAGAAGCATTAGCATCGTGCAACATGAGGTGACTGCCTGAACAGCCCACCTGCTGCTCCTCAGGCATGGGTTCTTACCTCTGTTGTTGAAAGCACCGTGTCCTCGTCAAGGCTGAGCACGGCGTCTGTGATGATGTTGTCGTAGGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGAGGGAAAGAGGTAACTTCAGAGTCTTGTTTTCAGGACAATTCTCCCATCCTCACCTGCATAAAGAATGCGCTACTATCATGTCACCCCTCAACACCGAAGGAATCTCATTTCCCATCAATGCAGATGTATTTGTTCAACAATTATTGGGCACCTACTGTGTAGCAGACATCTTGCTTGTCAAAGAGGGTACAAAGATAAATCAGACATGTTCCCTGTCTTTGAAGAGTTCATGGTCTGTAGAGGAGACCAAGAAGCAGATGACCAGTCTTTGCTTGATACAAAAAATGCCAGGAGACCACAGGATGGAGCAACTAGCTGTCTGGAAGAGCAGGTGAAGGCCTCATAGAAGTGACATTTAAGCAGGACCCTGATGGGCAGAAAGAATTCACCAGGTATAGATAGTAATGAAGTATTAAAGACAAGACTTGGCAGATGCAGAGGCACTGAGCAGAGAACCTGCATCCTGACACCCACTCTTCCCAACCGAAAGAGTGAATGGATGGAGAAGTGATTCCAAGTGTGGACACAAACCACGGGGAGAGCAGATCACTGTAGAAAGTGCTGCTTTTACAAATTACAAACATTTACAAATTAAAATATGTATTAGCACAGATTAGAAAAAATATATACACATATATTAGCAGCTACAGCAATCAAAGGTAATATTAAAGTTACAAATAACTTCATTAAAATGAGAAGTATACTGATTTAAAGAAATATATTAGGCCAGGCGTGGTGGCTCATGACTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACAAAAAAAGAGAAGAAGAAGAAGAAGAAAGAAGAAGGAGGAGAAGGAGGAGAAGGAGGAGGAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAAATATTAAATAATAGCACATATGATCCATGGATTTAGAAAAATTGTGAAGGTGGTGTATGCATAAAGTTTGGGCAGTTCTGGAATAAGGAAAGGTGGACTACGTGTGCACACACAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGGGGCTTTGGAGATTATGGCATCAGCTGGAAAAATTGAGGGTGGAGAGGTTACCCTGTGATAGTCACAACTTAAACCTTTGTGTTGAATGTACCATAGAGGAACTAACCATAAGAATGCTGACACCATAAGAATAACATTTTTTGAACATTTACTGTGTGCCAGGATATGTTGCAAGTCCTTCATATATATCATCGTGTTTCATCTTTATAACAACCCCATTTTACAGGGAGGGAAACTGAGATACACAGGTTAAGTATCTTGCCCAAAACGGACCCAGGATTTTCCCCCAGATGGTGTGACTCTATAGAGCACCTTGGCCACCGGGCTGTATCTGAATGGAAAGGACCTCAAAAGTGAATTTAGGAACACATATGCCAATCATATGCTCATCACCTTCTTCCAGAAGTTATAGTAAGGATGATGACATCCTCTCTGAATTCACACCTGCCATCAACTTTGAAGAGACAAAGGCCAGGGAAAGAAGCAACTTAACACTGCAGACAAAGGGAAAGAGGAAAAGGGAGGTACCTAGCCAGCTGCCAGAGCTGCAGTCTCCCCAAATCTGAGTACCCCTAGGAGCCAGCTCATCTGCAGGCCTCATCTCAAACTCGGTTTCTTTGCCGGCGAAGCTACCAGAGCACCTAGGACTTTAATGCATGGACAGTGGCCACTCTAACTCATCTCCAAGAGCTCAAGGGACATAGCTGTAGCACACA | CCCTCTCTCCTTTGCCATTAGAGTTCTGGCAGTAGCCACGTCCTTCCATGATCATAGCACTTGTAGAGCAGCCTCTCCATCCTAGTGCCATCTCTCAGGGCCTTTGAAAGAAGGAGTTCCTTCTCTAACTCCTTCAGGCCAAAGGGAGGAGCTGCTTCCTGCTGTCATTACTCACCAGGTGCCTCATTCTCTCTTATGGGGTCTTTTAACCCCATCTACACCTCCCTAAGGAATCCAAAGTTCCTTCATTTGAATCATCTGATTTGAATTCAGTTTGTTGCCAGGACTCAGATGGATATAGCCTGGAACTGTGTAACTGAAGTACCTGGCATGGAGACCAGGACAAAGAAATCTCTCAATAAATACTTGTTGAATGAATGTGTTCCAGCTTCCCTTGCAGAAAGTGGCAGAAAAATGCAAGCCAGAGTGACCTGTACCCTGTATTCCATAGCTGTCTTTCCCTATGAATGTTAAGCTTATCAACATCCCTTCCTCCTGCCAACCTACACATGACACAATTGGCGGTGTGTCCACCTTTAATCCCCAAAGCATGCATCCCCCCACCCTGGCCCAACCACTCATTCAACAAGTATTTATAGAGCTTCGGCTGCATAGAAAGCATTTTAACAAGGTGAGGTCCAGGACATTTTGTCCTGGGATTATTTAGGTTGCCCTTTGACATAACATCTATGCAACTCTATCTGATGGCACCTTGAAAGCATCTATGGAATTTTTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAATGGTACGATGTCCGCTCACTGTAACCTCTGCCTCTTAGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGAGAATACAGGCACCTGGACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAGATAAGGTTTCACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGGTCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGTCAGGCCACATCTGTGGAATTTCAAGGAGACACTGAGTTCACCTAGGCCAACATTGAGTCTTGGCTCTGTGGGCAGCAGGCCATTAGAACTAGATTGGTGTCCAGGAAAATGCAGGTTACACTGATGTTTACATTAAAAGGAAAATGATTGTGAACAAAAAGGAAAAAAGACAGGGAGAGGGAGGGGAAAGGTGTAAGTAGTTACGTCTCCATGCTTTTTAGTAGTTGCCATTAATAATGTATTTCTCATATACTCCATTTTTATATAGCTGTCTTTGGTCCTCTGCATGGTTTAAAGGAAGGTTTCAGAGATCAATACTCATTCGAGTTGTAAAAATTGGTTTTCTACCATATCTATCTTTCCTCCTCTCTCTCTCCTCCACGCGCATTCTTTAGGCAATCTTATTTTTGGCACAACTACCTGAACATCTGAAATAGGAATCTCCATCACAACCTTGAAGTGAAACCGTTTGCTCTTGTATAGGTGAAAGAAAATGAGCTCTTTAAACCAAGACAGAAAAGCTGCCTTTAGAGCTCCACATAGAGTCTCCTAACTGAGGCAATAGGATACGTGGAGAGGAATGGGATTATCTCCTCCGGAAAGCATGGTTTCAACCTAATGCAGAACACGCACCCTCCCCCTTCCCCTCAGTTCTGCGCAACTGCTCACAACTGTGCTGTTTAAAAACAAAAAAGGAGGGCAGGCCTGGGAGGAGGGGTGAGGCCCAGTTATGCAAATGAGGAGCCAATTAGCAGAGACAACAAAGGGGAGATGCCCGCCTCAGAGTGCCAGGTGGCAGCAAGGTGCTAACAGGAATCGGGCTGATTAAAACCAGCGCTGTAGGAAGTTTTGAAAAATGTTTTCAACTTCTGCCAAGGCACGGCTAAAAGAAGCATTAGCATCGTGCAACATGAGGTGACTGCCTGAACAGCCCACCTGCTGCTCCTCAGGCATGGGTTCTTACCTCTGTTGTTGAAAGCACCGTGTCCTCGTCAAGGCTGAGCACGGCGTCTGTGATGATGTTGTCGTAGGCAGAAAACGGCTGCTCATAACCTGGGAGGAAGTAGAAGTAGGCAGTGGGGAGGGAATGAGGGAAAGAGGTAACTTCAGAGTCTTGTTTTCAGGACAATTCTCCCATCCTCACCTGCATAAAGAATGCGCTACTATCATGTCACCCCTCAACACCGAAGGAATCTCATTTCCCATCAATGCAGATGTATTTGTTCAACAATTATTGGGCACCTACTGTGTAGCAGACATCTTGCTTGTCAAAGAGGGTACAAAGATAAATCAGACATGTTCCCTGTCTTTGAAGAGTTCATGGTCTGTAGAGGAGACCAAGAAGCAGATGACCAGTCTTTGCTTGATACAAAAAATGCCAGGAGACCACAGGATGGAGCAACTAGCTGTCTGGAAGAGCAGGTGAAGGCCTCATAGAAGTGACATTTAAGCAGGACCCTGATGGGCAGAAAGAATTCACCAGGTATAGATAGTAATGAAGTATTAAAGACAAGACTTGGCAGATGCAGAGGCACTGAGCAGAGAACCTGCATCCTGACACCCACTCTTCCCAACCGAAAGAGTGAATGGATGGAGAAGTGATTCCAAGTGTGGACACAAACCACGGGGAGAGCAGATCACTGTAGAAAGTGCTGCTTTTACAAATTACAAACATTTACAAATTAAAATATGTATTAGCACAGATTAGAAAAAATATATACACATATATTAGCAGCTACAGCAATCAAAGGTAATATTAAAGTTACAAATAACTTCATTAAAATGAGAAGTATACTGATTTAAAGAAATATATTAGGCCAGGCGTGGTGGCTCATGACTGTAATCCCAGCATTTTGGGAGGCTGAGGTGGGTGGATCACTTGAGGCCAGGAGTTCAAGACCAGCCTGACCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAAATTAGCCAGGTGTGGTGGTGCATGCCTGTGGTCCTAGCTACTTGGGAGGCTGAGGCAGGAGAATCACTTGAACCCGGGAGGCAGAGGTTACAGTGAGCTGAGATGGTGCCACAGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTCAAAAACAAAAAAAGAGAAGAAGAAGAAGAAGAAAGAAGAAGGAGGAGAAGGAGGAGAAGGAGGAGGAGGAGAAGAAGGAGAAGGAGAAGGAGAAGGAGAAGAAGAAGAAAAAATATTAAATAATAGCACATATGATCCATGGATTTAGAAAAATTGTGAAGGTGGTGTATGCATAAAGTTTGGGCAGTTCTGGAATAAGGAAAGGTGGACTACGTGTGCACACACAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTGGTGGGGGCTTTGGAGATTATGGCATCAGCTGGAAAAATTGAGGGTGGAGAGGTTACCCTGTGATAGTCACAACTTAAACCTTTGTGTTGAATGTACCATAGAGGAACTAACCATAAGAATGCTGACACCATAAGAATAACATTTTTTGAACATTTACTGTGTGCCAGGATATGTTGCAAGTCCTTCATATATATCATCGTGTTTCATCTTTATAACAACCCCATTTTACAGGGAGGGAAACTGAGATACACAGGTTAAGTATCTTGCCCAAAACGGACCCAGGATTTTCCCCCAGATGGTGTGACTCTATAGAGCACCTTGGCCACCGGGCTGTATCTGAATGGAAAGGACCTCAAAAGTGAATTTAGGAACACATATGCCAATCATATGCTCATCACCTTCTTCCAGAAGTTATAGTAAGGATGATGACATCCTCTCTGAATTCACACCTGCCATCAACTTTGAAGAGACAAAGGCCAGGGAAAGAAGCAACTTAACACTGCAGACAAAGGGAAAGAGGAAAAGGGAGGTACCTAGCCAGCTGCCAGAGCTGCAGTCTCCCCAAATCTGAGTACCCCTAGGAGCCAGCTCATCTGCAGGCCTCATCTCAAACTCGGTTTCTTTGCCGGCGAAGCTACCAGAGCACCTAGGACTTTAATGCATGGACAGTGGCCACTCTAACTCATCTCCAAGAGCTCAAGGGACATAGCTGTAGCACACAN | pathogenic | 138,553 |
Is the genetic change at chromosome 8, position 117819742, within gene EXT1 (exostosin glycosyltransferase 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | AGCGCAATTCAGCTAATTATAAATGATCAAATGTAGTAGGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATG | AGCGCAATTCAGCTAATTATAAATGATCAAATGTAGTAGGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGN | pathogenic | 138,570 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 117819743, gene EXT1 (exostosin glycosyltransferase 1): what disease(s) if pathogenic? | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | GCGCAATTCAGCTAATTATAAATGATCAAATGTAGTAGGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGA | GCGCAATTCAGCTAATTATAAATGATCAAATGTAGTAGGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATG | pathogenic | 138,571 |
Gene mutation in EXT1 (exostosin glycosyltransferase 1) at chromosome 8, position 117819743—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | GCGCAATTCAGCTAATTATAAATGATCAAATGTAGTAGGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGA | GCGCAATTCAGCTAATTATAAATGATCAAATGTAGTAGGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGAN | pathogenic | 138,572 |
A mutation at chromosome position 117819780 on chromosome 8 in gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Chondrosarcoma', 'Multiple_congenital_exostosis'] | GGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGATGTTTCTAACATGAGAGCAACTGGGGGTCCAAATACA | GGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGATGTTTCTAACATGAGAGCAACTGGGGGTCCAAATAC | pathogenic | 138,573 |
Classify the chromosome 8 variant at position 117819780 affecting gene EXT1 (exostosin glycosyltransferase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Multiple_congenital_exostosis'] | GGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGATGTTTCTAACATGAGAGCAACTGGGGGTCCAAATACA | GGGGGCAGGGTCTGTAGGGGAAAGCAATGAGAGAAAAGATTGGAAGGCTGGCTAGGGCCAGGTTACACATGGCCTCAAATGTTAATTGGAAGCACTAGCAAATGGAGAAAAAGGCCGGGAGATGATCAGAAAGATAGTTCAGCTCTAGGCAAAGTGAACTGGAGAACAGAAGAGAGGCCGGCTATGTAGCACTCATGAGAATCTTTACAGGCAGATGCCAAACAAAATTAAGGTGAAAATGTCCTTTTTAAAGTGAATGGGAGAAAGAAACACCATTCTGATAGACATAGCTCATTCAGATTAATCAGCCAAGCAAACCATCACCACCACCATCAGCTTTATCTTCATCTTTGTCATTTACAGAAAGATAACTATTGCCAGCTCCTGACTTTATTTAATCCTAACAGCAACCCTACAAGGTATATATTATTGTTTCCACTTTGTAGATGAGGAAACTGAGGCTCATAGAGGTTAAGTATACACACAAGGTCACAAAGCTATAAAAGAGTTGGTATCAAGACCCAGATTTCCCTGATTTGAAAGCCTATTGTGGTCAAATCTGAGAATATTCTGAGAAAAGTACAGTTTTAGAAAAAATAATCCAGGAACAGGGAGAAGATATCTAGGGCCAAGACCCAAAGTGCCCCATGGAGAAACCAAGGCTCCACAGTGGTTCCACATATAGGTCCCCTTCGAGTCTTACCTTGCTCTCTCCTTCAATGACGACGACAGGCACAGCAGTGGCAGGCCAGCGGTGTTTGGCTGGTAGGGGCTTGTCACAATTCCATAGAACTATGATCTGAAAGGGATGGGGCTCATTAGATGGCTGGGGTAGGATGTATTTATGTATGCCTCCAACCCAAAGCCTCTTCTCAGAGACAGAAAGAGAAAGAGGAGCTGGAAATCTCAGCAAGACAAAACGGCAGACATCAAAACTGAGTTTTAAAGTGAGTCCATTCCCACACAACCTCAGAACATTATCACCCCAACAACTGGAGAGAGGACAGAAAGAGCAAACAAATAAACAAACAAACAAACAAACAAAACCAACTGTGTCCGGGAATAGGGGAAAGCTGCAGGAAAAAGAATTACGGTGGCTGGAGCTTAATAAAGTGGTTTCCTAAATTCTGATATCTTATGATGGTGTGTGAGATAACAACTCTGATCAAATTAAATAAAAATGTATACTGAGCATCTGAACATCTGCTCTGAACTTGCACTACACCAGGCAATGTGGGAGAAATAAAAAAATTCAAGCTAGAACTAAGATGAGCTCATGTTTTGCATGCTCTAGAATGGTTGCTGATTTTATGTGACTTTATAATTTCCAATAAAGGCATTTAGTTCAAAAATGCATACTTCCTTATTGAATTCTTTCCTTGTTTGTAAACCTTCTTGTATAAACTAATTCACAAATCAGAAAAACCACCGTTCAATATGGGAGGAACACTGATTTGGAAAATATTGTTACCATAGGCATAATCGTCTGCTCCCAATTTTATAATTAGTCATAGTTGCTATGAAAAGAAAAGTTGACACTTCATGACACCAACAAGTCTGCTTCTTCTATTGAAGCTTAGTTGTCTGGGTCCTCCCAGAGGCTTTTTGGATGTTACTTTATCATTTTGACATTTAAAAACAAAATCATGTGCTTGTATCTTCTTTAGAGACTATGTTGGTGTATGTATATATACTTTTTAACTCTATACCAGTGCTAAGGTCTCTCTGTAACCCATCCCTTCCCTGTGCAGATTTCACTTCCAAGAATTTCTAAGTGGATGAAAAGGGTGTAACGAGGCAGGATGAATGAAAGGGAGTAGCAGGGTATGATGTTAGAGAAGTCCCGGGGAGCCTGGGGAGCCCGGGGGATAACAGGTAAGGAGGGCGGAGTCTCTGGTCTGGAGCTGGAGCAGGCAGGGGCTTCTCTGTCAACTTCCCGCTCACCTGGGCACAGTACTGGGACTTGGCTGCAGCCACGAGAAGCTTCAACACTGGCTGGGACTGAGAGACCAGGGGGGTCACCGCATGGATGACTGCAGTGAATTTGGAGGGGGCTTTAAACCTGAAATAAAAAGGAGAGTAGAGCCTAATGAAGCGCTGGAAAGCAAGACTTAGAAAATTACTCCTCCTTGCTCCGCTGCCTCATGCTGGAGCAAATGTTCCCTCCTGGATGATTTCTCCTTTGCTTCTTATGTCCTGACAGGACAGAAACAAGATGAAAAGCTGCTGGTTAGCTACTGCCTGAGTCTAGAGACCTCAATAAATTCCAGATCAATGTCCACTTCTAGGTTCTTGCTTTGACATCCTTTGCCCCTCTTGGTGATGTTTCTGTGATGTCCCTTTGGCTTTTTAGGTACCCAGTGTCCAAATACACACAACACTCACCACCCTTCATGTGCTGTCTCTCCCATGGTATTTGCATGTGTCTGATTTTTAATTATGTAATGAAAGGGTTCTACCTGACTAATCGTATTTCAAATAACTAGCTAGTGGGAAAAAAGGTGAAAGGAAGAGCATCCAGGGCCTGACTGTCTAGGTCTGAATCCCAGATCTACCACTTACTGGTCGGGGGACCTTGGAAAGATTACTTAACCCTCTGTGTTTCCACAGCTGGGAAACAGACCTGATAGTAACAGTGCCAAATATGGGGTTATCTTGAAAATTCAGTAAGTTTGTCTGGGCACGGTGGCTCACACGTGTGATCCCAGCAATTTGGGAGGCTGAGGCGGGCAGATCACTTGAGACCAGCAGTTCAAGACCGGCCTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGATGTTTCTAACATGAGAGCAACTGGGGGTCCAAATACAN | pathogenic | 138,574 |
Gene EXT1 (exostosin glycosyltransferase 1) variant at chromosome position 117822544 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Multiple_congenital_exostosis'] | CTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGATGTTTCTAACATGAGAGCAACTGGGGGTCCAAATACATAAATGTCTAAGGCAATAACAGTAGCCGGTGGTAGAGATTTATCCCTCCGCCATTCCCTTTTCCCTACTGTGATTAGACTGAAAACCGCTTGAAAGCAGAGATTGTATCTTATTTGACTTTTTATTTCTAGTACCCAGCAATACATTAGCATAGCACATAGAAGGAGCATAATAAACCTTGGAAAAATGAATAAATTTGTGCTTGTCACACATTCTTAGTTATTTCTCCTTTCCTCTTATTCAGTTTTTCTTTGGTAAGGAATAGAGATATTGGGATTGTGAAAAAAAAAATTGGGGAGAGCTCTCCATTTTATATATGATGAGGCTTAAAATGATAGCTAACCCATTGCCATGTTCAAAATGATCCATAATTTGGGGAGCCTATTTCTCAAAAAGAAATAACTCTACTAAATATGAAGTAGAGCTGCACAGATAAGAAGTTTTTCTTTTTTTCCATTTTGCAATGCTCTGCTCTGTTTTTGAACTTGATATGTCACTTATAACAAGGCTCTAGAAAAAGCAATCTTCAATGCAGGGTGTTAGATGGACCCCATTAGAGTAGAAGAATAAAGGCCTTTAGTTCTGTATGACATCTTCAGGGTAAACAAGGGCAACTCCCTGGAGGAAATTCACTTACCTAAATTAGCATAGTAGTAAGGAAAATCTCCCAGATAAGATGAATACTGTGGTAGTACGAACAATCCTCCAGGATGTTTGTTCCATATTAAACTGTTACGTGATATGTGCTTGAATATTCTGTCCTGAATAATCTAGAAAATAAAACATAGCACACAGTGAGGATGAGATCCTGATGATATTTGGAAAGGATGATGCTCAATCCAAATTCGAAAGATGGTGGCAGTCAGAGTAGTGACTCTACCCTCCCTCCCACTTTAATTCTCCGGATAAAAATGTCTGCAAGACAGAGAGAGTAATGGAGCAATGAAAAAGAGTGAGAGAAACATATGAATTATAGCCAATCAAATTTCCTAATTAAACTTCAGTTAAACCATAAGTTCTATCTTGTCTTTGTATAATAATGAGTCCATGCTCATTCCAAAATAGACTGTGTGGAGCAGTTAGTCTTTCCCTGATGGTTAAACTTCTAAGAACTAAGATAGGTTCCAGGCCCCTATCAAGAAGATCTGTTCTCAGAGAACAAGAGAGGTCAATGTAGACCTGTAGATGCTAAACGGAAAGCATATTCAAGACATGACACATTCTAGAAGCTATTGAGGTTTTCAGCTGTTCCTTTAATTCAAGAGGTAGATGTGTATACTTGTCATATTTCATTTTCCTTTCAAAGTCAATTGGAGGACTTTGGGTGCTGGTTACTGAAGTTTTTCTATATTTCATCTTGAAAAGTAGTGAGTTAACAATTGCTTAAAACATCCTACATAATAGGACAAGAACCATGGCATATGAAGACTAATAATAGCCAAGCTAGTTCATTAGTTTCTTTGGACTTTGGGACCTTGCAGATCATTAAATTCTACATTTAGAGTCAAACATCCTCCCATCCCGAATCATTTGTCAGTTGAATGTGATTAGTCCACTTTATAGCTTTCTCTCTGTGACTTTCAAACTCTTACAATTATACCATCCACTCATTAGAATATGATTTGGCAAATAATTAACTTGGTACAGAATTTTATGTTTTCAGCAATTTTTTTTACATTAAAAAAAAAAAAGAAAAAAATCCTGCCGTAAGTTTTAAGACATTTAAGACCCAAATCACCATTTTCCAGGTCTCCATTTAATGCAATGTGATTTTAAGTACAGACTATTTTAAATGGAGTTTTATTATTTGCTAAGGTTATTAACACCCTCATCTCATTCCACATGGTGACTAGATAAGTAATAAAGTGGGCTACATTTATCTTTGCAAATCTTATGTTTATTTTCCTAATGACAGAGAAGGAAGCAAGGAGGAAATTCAAAAGAACTCAAATATCTTAGTTCAATGATTTCTGCATCTTATCTTTCACCCAGATCAAAACTGCTAATTTTATATGGCTGGATAGAGGTTTCTAATTTGGTGGAGACTTTAGGAACCTAGTGAAAATATTTATTTTTACTTTTTGTGGTACAACAGGGATATGTTAAAATGCTGTTGTCTTGGCATTAATTATGAGAAAATTGTCATAGTTGTGAAGGACTTTTTACATGGTTAGCAATTTCACTTTGTACAACATTTATTCCTGCTTTTTATTATTTGTACTTTCCAAACGTACTGTCTATTTATTTCCTTTTTATAGTTTCTCTTTAGATCCTCCTTTTTTTGTTTTTTTCTTTTCAAATTTATGTACCTTTTAGGATGTGGTCACTTAAATAAGTTTGGATATCAAGATAGAAAATAAATTGACAATAGACAGCATTATAAATCGAACCTACAGACAAATATCATGGAACTCACAGCTGTCACAAAATGGGTCATCATTCCCATCAGGTCTTTGGATGGTATGCTTGTCATTGTCATAGACTATCTTTTTGGTTCGGCATCACAACATTGTTATCTTTTAAAATTCAAAGATATGATAATAAGATATAGCACTCTTCTGAAATAACAACAAGCATTTTATACTGTCTTCCAACGGATCTTGACAGAAAGACATAGGACAGGTACGAAAGCAGTAGCAAATGTTGAATTTAACGTGGGTCAAGCAATTTGCCACCTTTGTGTATTATTTTCCTCATTTGTAATAAAACAATAAAATACCACATTAATTATAACAACGTCTCAGAATTTAAGAATAGCTGCCTA | CTGGCCAACATGGTGAAATTCCGTCACTACTAAAAATACAAAAATTAGCTGGGCATGGTGGCATTTGCCTGTAGTCCCAGTTATCGGGAGGCTGAAGCAGGAGAATTGCTTGAACTCTGAAGACAGAGGTTGCAGTGAGCCAAGATGGTGCCGATGGTGCCACTATACTCCAGCCTGGGCAACATAGCAAGACTCCGTCTTAGAAAAAAAAAAAAAACTTAATGCATACAAAGCACTTAGAACAGGACTTAACAAATGACAAGTACTCAATATATGTCAGCAGCTACCATTATCATCACCCTCACCAACATTATTATTTTGGAGAAGAAGCCTCCATATTCCCAGAATCTCTTCTTCGTGTAGCAGTGATATAGCTGAGAAAAAAAGTATGTGAGGCAGACTTTTGCCAGTTGTGAGCTCTGAAGCCCTAGGTTAAAAAGGATCATAGATATGCAAAACAACCACTGTCACCAAAGAGACAGAAGTGAGATGGCTTCCCCCCAAGGAGTTTTCCCATAAGAACTCACTAAGAAATTAGAGACAGGTTAAGAGCCTTTTAAAACTTCATTAGTTTAGACCCACTAATTTGGCACTTTAGTGGCTTAACTGCGAGCAACACAGTGCAGGGACATTCAAGTTACGCTTTGATACTGATGGGATAAAGGCTAGAATCAGACTATATGTGTATTACAGGATTATACAAAGGTTTTGTAGAGAAAATTATATCATCCAGCAGCACTTTAATTGTATGTTAGAAAGAAGTTAACCTTCCCAATATCTAGATACATATTCAAAGTTTTGCCGAGTAAGAAGAATAAGCGTGATTGAGGGATTGCCTTTTAAACAGGAACGACAAGTCATTGTCTTTAAATTTTCCTGCAATAGTTTAAGAAGCATCATTTATACACCTCTAATGTGCTAACTCCAAAGGAAGATCTAAATATTGTACAAGAAATATACAGAAATTCTTGTCAACCAGTGCCTTAATCTGACAATTTCTAAATTCTGTTACCCAAATGTCAACAATATACTGAATTAGAGATGGTTCCCATAACAGGTTTGGTTTGGATTAAAAGGTGCTTTGTCACTGGTTGATGCTTCAGGCCATGCATTTCTTTAGGTTTCATCTCATCAGTTTCAAACTAAACATGTACAACTTAAAAGGGTGAGGGTGTTACGGAGAACAACGGCACTGAATGGAAAATCTTGTCTTTTTGCTGTATCAGCTTGGAAGATGCTTTCCTGTCCTAGGCTTTCTCAAGTTTAGAACTGTAACTGATGGGAAATGTTCATGATGTTTCTAACATGAGAGCAACTGGGGGTCCAAATACATAAATGTCTAAGGCAATAACAGTAGCCGGTGGTAGAGATTTATCCCTCCGCCATTCCCTTTTCCCTACTGTGATTAGACTGAAAACCGCTTGAAAGCAGAGATTGTATCTTATTTGACTTTTTATTTCTAGTACCCAGCAATACATTAGCATAGCACATAGAAGGAGCATAATAAACCTTGGAAAAATGAATAAATTTGTGCTTGTCACACATTCTTAGTTATTTCTCCTTTCCTCTTATTCAGTTTTTCTTTGGTAAGGAATAGAGATATTGGGATTGTGAAAAAAAAAATTGGGGAGAGCTCTCCATTTTATATATGATGAGGCTTAAAATGATAGCTAACCCATTGCCATGTTCAAAATGATCCATAATTTGGGGAGCCTATTTCTCAAAAAGAAATAACTCTACTAAATATGAAGTAGAGCTGCACAGATAAGAAGTTTTTCTTTTTTTCCATTTTGCAATGCTCTGCTCTGTTTTTGAACTTGATATGTCACTTATAACAAGGCTCTAGAAAAAGCAATCTTCAATGCAGGGTGTTAGATGGACCCCATTAGAGTAGAAGAATAAAGGCCTTTAGTTCTGTATGACATCTTCAGGGTAAACAAGGGCAACTCCCTGGAGGAAATTCACTTACCTAAATTAGCATAGTAGTAAGGAAAATCTCCCAGATAAGATGAATACTGTGGTAGTACGAACAATCCTCCAGGATGTTTGTTCCATATTAAACTGTTACGTGATTCCATATTAAACTGTTACGTGATATGTGCTTGAATATTCTGTCCTGAATAATCTAGAAAATAAAACATAGCACACAGTGAGGATGAGATCCTGATGATATTTGGAAAGGATGATGCTCAATCCAAATTCGAAAGATGGTGGCAGTCAGAGTAGTGACTCTACCCTCCCTCCCACTTTAATTCTCCGGATAAAAATGTCTGCAAGACAGAGAGAGTAATGGAGCAATGAAAAAGAGTGAGAGAAACATATGAATTATAGCCAATCAAATTTCCTAATTAAACTTCAGTTAAACCATAAGTTCTATCTTGTCTTTGTATAATAATGAGTCCATGCTCATTCCAAAATAGACTGTGTGGAGCAGTTAGTCTTTCCCTGATGGTTAAACTTCTAAGAACTAAGATAGGTTCCAGGCCCCTATCAAGAAGATCTGTTCTCAGAGAACAAGAGAGGTCAATGTAGACCTGTAGATGCTAAACGGAAAGCATATTCAAGACATGACACATTCTAGAAGCTATTGAGGTTTTCAGCTGTTCCTTTAATTCAAGAGGTAGATGTGTATACTTGTCATATTTCATTTTCCTTTCAAAGTCAATTGGAGGACTTTGGGTGCTGGTTACTGAAGTTTTTCTATATTTCATCTTGAAAAGTAGTGAGTTAACAATTGCTTAAAACATCCTACATAATAGGACAAGAACCATGGCATATGAAGACTAATAATAGCCAAGCTAGTTCATTAGTTTCTTTGGACTTTGGGACCTTGCAGATCATTAAATTCTACATTTAGAGTCAAACATCCTCCCATCCCGAATCATTTGTCAGTTGAATGTGATTAGTCCACTTTATAGCTTTCTCTCTGTGACTTTCAAACTCTTACAATTATACCATCCACTCATTAGAATATGATTTGGCAAATAATTAACTTGGTACAGAATTTTATGTTTTCAGCAATTTTTTTTACATTAAAAAAAAAAAAGAAAAAAATCCTGCCGTAAGTTTTAAGACATTTAAGACCCAAATCACCATTTTCCAGGTCTCCATTTAATGCAATGTGATTTTAAGTACAGACTATTTTAAATGGAGTTTTATTATTTGCTAAGGTTATTAACACCCTCATCTCATTCCACATGGTGACTAGATAAGTAATAAAGTGGGCTACATTTATCTTTGCAAATCTTATGTTTATTTTCCTAATGACAGAGAAGGAAGCAAGGAGGAAATTCAAAAGAACTCAAATATCTTAGTTCAATGATTTCTGCATCTTATCTTTCACCCAGATCAAAACTGCTAATTTTATATGGCTGGATAGAGGTTTCTAATTTGGTGGAGACTTTAGGAACCTAGTGAAAATATTTATTTTTACTTTTTGTGGTACAACAGGGATATGTTAAAATGCTGTTGTCTTGGCATTAATTATGAGAAAATTGTCATAGTTGTGAAGGACTTTTTACATGGTTAGCAATTTCACTTTGTACAACATTTATTCCTGCTTTTTATTATTTGTACTTTCCAAACGTACTGTCTATTTATTTCCTTTTTATAGTTTCTCTTTAGATCCTCCTTTTTTTGTTTTTTTCTTTTCAAATTTATGTACCTTTTAGGATGTGGTCACTTAAATAAGTTTGGATATCAAGATAGAAAATAAATTGACAATAGACAGCATTATAAATCGAACCTACAGACAAATATCATGGAACTCACAGCTGTCACAAAATGGGTCATCATTCCCATCAGGTCTTTGGATGGTATGCTTGTCATTGTCATAGACTATCTTTTTGGTTCGGCATCACAACATTGTTATCTTTTAAAATTCAAAGATATGATAATAAGATATAGCACTCTTCTGAAATAACAACAAGCATTTTATACTGTCTTCCAACGGATCTTGACAGAAAGACATAGGACAGGTACGAAAGCAGTAGCAAATGTTGAATTTAACGTGGGTCAAGCAATTTGCCACCTTTGTGTATTATTTTCCTCATTTGTAATAAAACAATAAAATACCACATTAATTATAACAACGTCT | pathogenic | 138,582 |
Gene EXT1 (exostosin glycosyltransferase 1) variant at chromosome position 117830295 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Multiple_congenital_exostosis'] | CTATTAGTTTCTAAAATGAATGTATACTTCTTTAATAATAACTCCTTTAATCCCACCAATTTGGGTAGTCGAGGCAGGAGGACTGCCTGAGCCAGGAGTTCAAGACCACTCTGGGCAACATAACGAGACCTTGTCTCCACAAAAAATGAAAAATTAGCCAGGCACAGTAGCTCGCGCCCATGGTCCCAGCTACTCAGAAGACTGAGGTGGGAGGATTGCTTAAGGTCATTCCAGCCTGGTGACAGAGTGAGATCCTGTCTAAAAAAAAAAAAGAAAGGCACTCTGCACTCCAAAAAGGGAGAAACAATAACATTCAACATTCTTTAAGAAGGGCCTAGGAAGGATCTTAGATGGAGGACAGGATTAAAAAAGCAAAGGGTAACTCTATTAGCTACTGTGAACAGAGGTAACAACTCAATTGATTTTAATTGAGGAGATTGCTTTTGGAGGGATAAAAGTTTGCTTGCAGGAAGGAAGCCCTTGGAAGTCATTATGATCCTGTCCCCTTCATGGGAATGGGCCTGGGTCTTAAACAGCCCCTTTTACCCAGTTCCAGGATGAAAAAAATACACACTATGCCTAAGAGAACACTGACCAGAGCTCGCCCTAGGGTGGGAGCAGGAGCCCAAGCTCAGCATGGGGTGGATAAATGCCCTGGTGTGCCTGGAGCATGACCAGCACTGGCTCTGATAGTCAGGATGGCAAGAAAACAGCGATGTGGACCAAGTAGGGTGACTTCAGTTTCTTGGTATTACTCAGATTTCTCAGTGTAGGTTCCATATTACATTAGCTTTTAGAGCAGTCATCACTCTTCCAGAGTGAATTCTCCAAAAGGAAGGCCACAATGCCCCCACCTCATTTTGGGACACCTCAGAATCACCTCAACGAAGATCTCTGCTCTCCTTTCTTCAAGCTTGTAATGCATGCGTGTGCAGTTTCCTGAATCTTTTCCTAGCTCTTTGTGCTACTTCGGTGTAGCCTCAGGCCAATGCTATCTGCTCTATTTCCAAAGGTTTTAATCATCTCCATGCTTCCTTTTTCTTTTTCCGTCCTGCCTTAAAAAAAAAGCAACTTGAGGACGGGCGCCCATCTGCCTAAAAGATTTTCTGCTTTCACAAATTTAACACTTTCTGTGCCACATGGGTATGATCCTGATTCTCCTCTTAACACAACTTTGCCACATTGACGCTGGTTGGCTGGCTTGCCTAAGTCTTGAGAATTCTGCTGTCCCGCAATGCCATTGGACTGTGGTGCCCAGAAAACTACTCATATTTTTGGAATGGTAGAGGATTTGCCCTTACTTGGCCATTATATATATTTTTCTTTTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTATAATGGTGCAATCTCAGCTGACTGCAACCTCCACCTCCCAGGTTCAAGATATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGTCTTGAACTCCTGAACTCAGGTGATGCACCTGCCTCAGCTTCTCAAAGTGCTGAGATTACAGGAGTGAGCCGCTGTGCCAAGCCATTAAATATTTTTTTCTAAATGAACTCCAGAAATATGTCTTCGAAGGATGCCATTGAGTGTAAATGACAAGACAGTCATGACCCACATATCCCTGAAATGATGTAAGACAGAGTCAATCTCTGTGTCAATAAGTATAATTTCTCCCCATGTAGGTTTTCCTTTGTGGAGTTTGTCAGGAATGAGAGTATTTTCTTGGCCATGGCAAAGCAGGTAAAAGAGGTTAACCAATATATCCAAGTACAGGAATCTGGTTTTGCCCCACTGGACCAATCACACATCCCTAATAGCAAAACAGAAGGCTGAGAGAAGTGTATAAAGGACCATTATTCAAGCCCAAGAGCCAAGTGGTCTCACTTACCTCTAGTGTAGTTAATACAATCTTCTCAACTGAAGAAAAATAAGCCTCCCACAAGAATTGTGTCTGCTGTCTAAGTGCTAGGATTTTATCCTGATGAATAGACCTGATTGTAGAAGGAATCTGTAACACAAGGTGAACACATAGGAATTATAACTGTAAAACAAAGAGATGCACTTGATCAAAATAACCCAACTGGGTTAGGCTTTTATTCTTCATAGCATTTGGCTTCTAGCATATAGATCTACTAAAAATCATCAATTCCTAAGTTGAAATGACCTTAAGAAGTGTCAGCTGCAAAGAGCACTTACTGGGAATCCACCCCAATGGCCTTTGATGTATGAAAGTTACAGTTCACCTCTAAGATTCAGTAGCACCTTATCAGTTGCTTAGGTTAGTCTATAGTCACAATTGCTGTTTCCAGAAATCCTTGACCTTGCACATGAACAACCAAATTTTATAGAGGGGTAACTATAGGTCTTGGGGAAAGGCCAGAAGACTTTATCTCCCAAGCACTTCTATGATTGGTCACCCCAGGAACTATAAAATATCTATAAAAGGACTTTTTAGAGAATGTCTATGAGCCTTCCCATCCAATCTGAAGCTAGGGTCAGTCACTTTTATGTGCACATACCTTCTACCTCACCTTTGAGCCTTTCTGCTCCCTATATCTCTCTTTCTGCCTTCAGCCTTTACCCAAGTCTAACTGGATCTCTCAATTGTTCATATATGATTAGCCATCACTGCTCTCTTCCAGGGTATACAATTTTAAAGGAAGGACCTATATCTTGTTATCCTGCTACACATTTTCAGGTTAGCAGAGTGGATTTTATATAGTAGTTATTAAGAAATAGGAGGTGAATATAACCATCTGAAGCCACCACAGGGACGTCATTATTTTTAATGGTAGTATAACTGAATGGTCAGGCACAGGGGCACAGAAGTCAGAAAGATCAAGGAAGGAGTGTTGCCTCTAGCAGCATTTACTACCTGTGCTTTCTTGAATGAGTTAGCTGATTTCTCAAAGACTCCACTTCTTTACTTATAAAGTGGGGATAAAGTACTAAGGTTTTAATGATGATTATATAAGTGCTTAGCACAGTGCCTAAAACATGGAAAACTTAATTAATGTAACATCACTACTATTATCATTATTGGTATCAGGGTGATGCTATTAAAAGCTGGATCAATTGCTTAATGTTTGCAAGGGAACCTACTTGGGTCTGGAGCTCTGAAATGTACTTCCTGAGTCTGGTAAGTTTTCTGGGCTTGTTCCCTATTTTCACCTACAGTTCAAGGTCTATTTCATTTACGGAGTCTATAGTCTTTAGGGAAGATTCCTTGTGATTTGCAATTGCCCTTTTGTGCTCACCTCTTTCTGCATGCTTGCCTCCATAACATATGACTAATCCGACAGATATGGGAGTCTGAGCAAGAAGGAGAAATGCTCCGTTAGCTGCTTTAATAGGAAAGTCACCCATGGCATTTGACTAAGACTGTAACAGAGTTTCCATTGGAGGGGAAGGAAGTGGTAGCACATTTTTTAATTCAGCACTCCCCTTAGGAGGAGCAATAAAATAGCTTCACAGTAAGAACAGAAGGAAAAGCTCACTTGGTTTGACAATGTCCAAAACCAGATACTAAATCTGTGTCCCAAAGTGTATACCTGGATTTGCAACACTGAAAAAACAGAGGCAACATGTAAAGGAGAAATACTGGCAGGCAAACATTAGCCTGTAATCAGAGCCCAAGGTCAAATGGAAATAAAACATTCTTTGAGAAGGTAGACAAATCATTTATATCATAGAACCTTTATCAGTGCAAGGAAACTTATTTTTAGTTACTCACTGAGAAAGTTACCTAGATGGCCAAAGAAAGATTAGAAAAAAACTATCCTGTTCAATTTTCATAATCATACCCTCTTCTAAATGTCAAGAGGTAACTGCTAAGAGTTATATAGGTTGGCATCACTGTTTTATCGTAGCCACAAGGAAACAGTCTATTAGAAAAATGCCTAAGGCCGGGCGCGGTGGCTCAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGTTCAGGAGTTCAAGACCGGCCTGGCCAATATG | CTATTAGTTTCTAAAATGAATGTATACTTCTTTAATAATAACTCCTTTAATCCCACCAATTTGGGTAGTCGAGGCAGGAGGACTGCCTGAGCCAGGAGTTCAAGACCACTCTGGGCAACATAACGAGACCTTGTCTCCACAAAAAATGAAAAATTAGCCAGGCACAGTAGCTCGCGCCCATGGTCCCAGCTACTCAGAAGACTGAGGTGGGAGGATTGCTTAAGGTCATTCCAGCCTGGTGACAGAGTGAGATCCTGTCTAAAAAAAAAAAAGAAAGGCACTCTGCACTCCAAAAAGGGAGAAACAATAACATTCAACATTCTTTAAGAAGGGCCTAGGAAGGATCTTAGATGGAGGACAGGATTAAAAAAGCAAAGGGTAACTCTATTAGCTACTGTGAACAGAGGTAACAACTCAATTGATTTTAATTGAGGAGATTGCTTTTGGAGGGATAAAAGTTTGCTTGCAGGAAGGAAGCCCTTGGAAGTCATTATGATCCTGTCCCCTTCATGGGAATGGGCCTGGGTCTTAAACAGCCCCTTTTACCCAGTTCCAGGATGAAAAAAATACACACTATGCCTAAGAGAACACTGACCAGAGCTCGCCCTAGGGTGGGAGCAGGAGCCCAAGCTCAGCATGGGGTGGATAAATGCCCTGGTGTGCCTGGAGCATGACCAGCACTGGCTCTGATAGTCAGGATGGCAAGAAAACAGCGATGTGGACCAAGTAGGGTGACTTCAGTTTCTTGGTATTACTCAGATTTCTCAGTGTAGGTTCCATATTACATTAGCTTTTAGAGCAGTCATCACTCTTCCAGAGTGAATTCTCCAAAAGGAAGGCCACAATGCCCCCACCTCATTTTGGGACACCTCAGAATCACCTCAACGAAGATCTCTGCTCTCCTTTCTTCAAGCTTGTAATGCATGCGTGTGCAGTTTCCTGAATCTTTTCCTAGCTCTTTGTGCTACTTCGGTGTAGCCTCAGGCCAATGCTATCTGCTCTATTTCCAAAGGTTTTAATCATCTCCATGCTTCCTTTTTCTTTTTCCGTCCTGCCTTAAAAAAAAAGCAACTTGAGGACGGGCGCCCATCTGCCTAAAAGATTTTCTGCTTTCACAAATTTAACACTTTCTGTGCCACATGGGTATGATCCTGATTCTCCTCTTAACACAACTTTGCCACATTGACGCTGGTTGGCTGGCTTGCCTAAGTCTTGAGAATTCTGCTGTCCCGCAATGCCATTGGACTGTGGTGCCCAGAAAACTACTCATATTTTTGGAATGGTAGAGGATTTGCCCTTACTTGGCCATTATATATATTTTTCTTTTTTTTTTTTTTTTTTTTTGAGGTGGAGTTTTGCTCTTGTTGCCCAGGCTGGAGTATAATGGTGCAATCTCAGCTGACTGCAACCTCCACCTCCCAGGTTCAAGATATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCGTGTGCCACCATGCCTGGCTAATTTTTTGTATTTTTAGTAGAGACGAGGTTTCACCATGTTGGCCAGGTCTTGAACTCCTGAACTCAGGTGATGCACCTGCCTCAGCTTCTCAAAGTGCTGAGATTACAGGAGTGAGCCGCTGTGCCAAGCCATTAAATATTTTTTTCTAAATGAACTCCAGAAATATGTCTTCGAAGGATGCCATTGAGTGTAAATGACAAGACAGTCATGACCCACATATCCCTGAAATGATGTAAGACAGAGTCAATCTCTGTGTCAATAAGTATAATTTCTCCCCATGTAGGTTTTCCTTTGTGGAGTTTGTCAGGAATGAGAGTATTTTCTTGGCCATGGCAAAGCAGGTAAAAGAGGTTAACCAATATATCCAAGTACAGGAATCTGGTTTTGCCCCACTGGACCAATCACACATCCCTAATAGCAAAACAGAAGGCTGAGAGAAGTGTATAAAGGACCATTATTCAAGCCCAAGAGCCAAGTGGTCTCACTTACCTCTAGTGTAGTTAATACAATCTTCTCAACTGAAGAAAAATAAGCCTCCCACAAGAATTGTGTCTGCTAAGTGCTAGGATTTTATCCTGATGAATAGACCTGATTGTAGAAGGAATCTGTAACACAAGGTGAACACATAGGAATTATAACTGTAAAACAAAGAGATGCACTTGATCAAAATAACCCAACTGGGTTAGGCTTTTATTCTTCATAGCATTTGGCTTCTAGCATATAGATCTACTAAAAATCATCAATTCCTAAGTTGAAATGACCTTAAGAAGTGTCAGCTGCAAAGAGCACTTACTGGGAATCCACCCCAATGGCCTTTGATGTATGAAAGTTACAGTTCACCTCTAAGATTCAGTAGCACCTTATCAGTTGCTTAGGTTAGTCTATAGTCACAATTGCTGTTTCCAGAAATCCTTGACCTTGCACATGAACAACCAAATTTTATAGAGGGGTAACTATAGGTCTTGGGGAAAGGCCAGAAGACTTTATCTCCCAAGCACTTCTATGATTGGTCACCCCAGGAACTATAAAATATCTATAAAAGGACTTTTTAGAGAATGTCTATGAGCCTTCCCATCCAATCTGAAGCTAGGGTCAGTCACTTTTATGTGCACATACCTTCTACCTCACCTTTGAGCCTTTCTGCTCCCTATATCTCTCTTTCTGCCTTCAGCCTTTACCCAAGTCTAACTGGATCTCTCAATTGTTCATATATGATTAGCCATCACTGCTCTCTTCCAGGGTATACAATTTTAAAGGAAGGACCTATATCTTGTTATCCTGCTACACATTTTCAGGTTAGCAGAGTGGATTTTATATAGTAGTTATTAAGAAATAGGAGGTGAATATAACCATCTGAAGCCACCACAGGGACGTCATTATTTTTAATGGTAGTATAACTGAATGGTCAGGCACAGGGGCACAGAAGTCAGAAAGATCAAGGAAGGAGTGTTGCCTCTAGCAGCATTTACTACCTGTGCTTTCTTGAATGAGTTAGCTGATTTCTCAAAGACTCCACTTCTTTACTTATAAAGTGGGGATAAAGTACTAAGGTTTTAATGATGATTATATAAGTGCTTAGCACAGTGCCTAAAACATGGAAAACTTAATTAATGTAACATCACTACTATTATCATTATTGGTATCAGGGTGATGCTATTAAAAGCTGGATCAATTGCTTAATGTTTGCAAGGGAACCTACTTGGGTCTGGAGCTCTGAAATGTACTTCCTGAGTCTGGTAAGTTTTCTGGGCTTGTTCCCTATTTTCACCTACAGTTCAAGGTCTATTTCATTTACGGAGTCTATAGTCTTTAGGGAAGATTCCTTGTGATTTGCAATTGCCCTTTTGTGCTCACCTCTTTCTGCATGCTTGCCTCCATAACATATGACTAATCCGACAGATATGGGAGTCTGAGCAAGAAGGAGAAATGCTCCGTTAGCTGCTTTAATAGGAAAGTCACCCATGGCATTTGACTAAGACTGTAACAGAGTTTCCATTGGAGGGGAAGGAAGTGGTAGCACATTTTTTAATTCAGCACTCCCCTTAGGAGGAGCAATAAAATAGCTTCACAGTAAGAACAGAAGGAAAAGCTCACTTGGTTTGACAATGTCCAAAACCAGATACTAAATCTGTGTCCCAAAGTGTATACCTGGATTTGCAACACTGAAAAAACAGAGGCAACATGTAAAGGAGAAATACTGGCAGGCAAACATTAGCCTGTAATCAGAGCCCAAGGTCAAATGGAAATAAAACATTCTTTGAGAAGGTAGACAAATCATTTATATCATAGAACCTTTATCAGTGCAAGGAAACTTATTTTTAGTTACTCACTGAGAAAGTTACCTAGATGGCCAAAGAAAGATTAGAAAAAAACTATCCTGTTCAATTTTCATAATCATACCCTCTTCTAAATGTCAAGAGGTAACTGCTAAGAGTTATATAGGTTGGCATCACTGTTTTATCGTAGCCACAAGGAAACAGTCTATTAGAAAAATGCCTAAGGCCGGGCGCGGTGGCTCAGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGCGGATCACGAGTTCAGGAGTTCAAGACCGGCCTGGCCAATATGNNNN | pathogenic | 138,588 |
Is the genetic mutation found on chromosome 8 at position 118110073, within the gene EXT1 (exostosin glycosyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TAAACCAAAGTGTGGGTGTCATATTTCTTGGCCCGATCACAAAGAGGTCAAAAATTAGTTAAATTTAGTAAAAATTAAAGTTTTAAAGAAACCAACCCCTCCCTTCATTGCTGATCTCTAGAAAATGCTTCCATTCCACAGAAAACGTAGAAACGTAATATTTATTTTGGGAATAAAAGGGTAAGAAAGATATTATTCACTTGGATTAAGGGTATTTTCCAATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCC | TAAACCAAAGTGTGGGTGTCATATTTCTTGGCCCGATCACAAAGAGGTCAAAAATTAGTTAAATTTAGTAAAAATTAAAGTTTTAAAGAAACCAACCCCTCCCTTCATTGCTGATCTCTAGAAAATGCTTCCATTCCACAGAAAACGTAGAAACGTAATATTTATTTTGGGAATAAAAGGGTAAGAAAGATATTATTCACTTGGATTAAGGGTATTTTCCAATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCNNNN | benign | 138,607 |
Is the genetic mutation found on chromosome 8 at position 118110078, within the gene EXT1 (exostosin glycosyltransferase 1), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | CAAAGTGTGGGTGTCATATTTCTTGGCCCGATCACAAAGAGGTCAAAAATTAGTTAAATTTAGTAAAAATTAAAGTTTTAAAGAAACCAACCCCTCCCTTCATTGCTGATCTCTAGAAAATGCTTCCATTCCACAGAAAACGTAGAAACGTAATATTTATTTTGGGAATAAAAGGGTAAGAAAGATATTATTCACTTGGATTAAGGGTATTTTCCAATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGAT | CAAAGTGTGGGTGTCATATTTCTTGGCCCGATCACAAAGAGGTCAAAAATTAGTTAAATTTAGTAAAAATTAAAGTTTTAAAGAAACCAACCCCTCCCTTCATTGCTGATCTCTAGAAAATGCTTCCATTCCACAGAAAACGTAGAAACGTAATATTTATTTTGGGAATAAAAGGGTAAGAAAGATATTATTCACTTGGATTAAGGGTATTTTCCAATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATNNNN | pathogenic | 138,608 |
Assess the variant on chromosome 8, position 118110192, impacting EXT1 (exostosin glycosyltransferase 1): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Multiple_congenital_exostosis'] | AGAAAATGCTTCCATTCCACAGAAAACGTAGAAACGTAATATTTATTTTGGGAATAAAAGGGTAAGAAAGATATTATTCACTTGGATTAAGGGTATTTTCCAATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGG | AGAAAATGCTTCCATTCCACAGAAAACGTAGAAACGTAATATTTATTTTGGGAATAAAAGGGTAAGAAAGATATTATTCACTTGGATTAAGGGTATTTTCCAATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTG | pathogenic | 138,612 |
A mutation at chromosome position 118110294 on chromosome 8 in gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | ATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGC | ATATATATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCN | pathogenic | 138,617 |
Regarding the variant at chromosome 8 and position 118110299, affecting gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | TATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCT | TATAATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTN | pathogenic | 138,618 |
Is chromosome 8, position 118110303, gene EXT1 (exostosin glycosyltransferase 1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Multiple_congenital_exostosis'] | ATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCC | ATTCAAATTTCCTAAGCTGAAATCTCAGCTTTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCNN | pathogenic | 138,619 |
A genetic alteration at chromosome 8, position 118110333, in gene EXT1 (exostosin glycosyltransferase 1)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['EXT1-related_disorder', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | TTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGT | TTAGCCCTTTTAGAAGGATGAAGAACAGAATCCTTCCACAGAATTCTTTGAGACTGCTTTAGAAGACACTGAAAGGTTAGACTTCATCTCGAGTTACTCCACCATAAACCAGACAAAGAAATTCCTGAAAGGCTATAAGCATTTTTTTCTTACAAGCACCCACAGGAATAGGTCAATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTN | pathogenic | 138,620 |
Determine if the mutation at chromosome 8, position 118110507 in gene EXT1 (exostosin glycosyltransferase 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Chondrosarcoma', 'Exostoses,_multiple,_type_1', 'Multiple_congenital_exostosis'] | AATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGC | AATGTAAATGTCGTATAAACAAAGCAGTTCATTACTAACCATAGTTTAAATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCNN | pathogenic | 138,624 |
Does the variant on chromosome 8 at location 118110555 affecting gene EXT1 (exostosin glycosyltransferase 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Multiple_congenital_exostosis'] | AATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCT | AATGTCTTTTATGAGAAAACTGTAATCCATTGCAACTGCACATTCATACATAACTGCCCCTGGATGAGAGGAAAATATGGATTCATAATTGATCTTAGTCTCCGGCTTTTCTTATGCCTGAAAAGCAAAAGGTATTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTNN | pathogenic | 138,627 |
Is the chromosome 8, position 118110689 variant in EXT1 (exostosin glycosyltransferase 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Chondrosarcoma', 'Multiple_congenital_exostosis'] | TTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGG | TTGGGGGTTGGAAAGCTGAATCTGAGTGCTTGATACTTTCTCCTTCACTCTCTATGATCAAGTCTTGGAGGACTTTAATTTCCCTTCCAATCACTCCTATAGAGGCCCTAGTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGNN | pathogenic | 138,630 |
The chromosome 8, position 118110799 genetic variant in gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_congenital_exostosis'] | GTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAA | GTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACA | pathogenic | 138,634 |
Classify the chromosome 8 variant at position 118110799 affecting gene EXT1 (exostosin glycosyltransferase 1) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Multiple_congenital_exostosis'] | GTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAA | GTGTCTGAAAAAATGCACAGACGACAATCAAACCTTTCATTTCAAGGCCAGTTTCCCACCATACCCCTTCCTGTTCCAATCAGGTTTGCGAAACATTTCCCCTATTCTGCATTTCATGAATCAATTGCAAAATCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAAN | pathogenic | 138,635 |
The chromosome 8, position 118110931 genetic variant in gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Multiple_congenital_exostosis'] | TCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAATTAGTGCCAAATAGTTGGTCCTTCCCTCACTGACCTCCCACTCCTTGGCCCAAGCTCCTGCCACTCCCAGTGGAAGAACTTCATTAGATAACTCAGGTAACCGAGGAGCAGTCCCGCTAAAGATCCTCCAGG | TCTGCCAACCTCTGCCAGTTCCTCTTGTACTCAGCTGAGAGGTTCCCCTTCCTTCCCTGGGTAGCACAAGGCTGCTCTGGTTTTTAACTGGCGTAACGTGGAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAATTAGTGCCAAATAGTTGGTCCTTCCCTCACTGACCTCCCACTCCTTGGCCCAAGCTCCTGCCACTCCCAGTGGAAGAACTTCATTAGATAACTCAGGTAACCGAGGAGCAGTCCCGCTAAAGATCCTCCAGGN | pathogenic | 138,639 |
Clinical classification of chromosome 8, position 118111031, gene EXT1 (exostosin glycosyltransferase 1): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Multiple_congenital_exostosis'] | GAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAATTAGTGCCAAATAGTTGGTCCTTCCCTCACTGACCTCCCACTCCTTGGCCCAAGCTCCTGCCACTCCCAGTGGAAGAACTTCATTAGATAACTCAGGTAACCGAGGAGCAGTCCCGCTAAAGATCCTCCAGGTCCACAAAGATGTGCTAGGCTCCCAAACAGTATCTCTGGTCAAAGTCAAACTCCCTGGCCTCAGATCCTGAACACTGCTTTACAGAAAACACCTCCCACC | GAAATGCACTGTAGGAACTCACTAACTCTTTCACAGCCAGATGTAAGTGAGAGTCTGGGCGGCAACCCCACCTACTAGGAAACTGGTCCACCAAGCTCAGGATAAAGCAGATTTGTGGAATTTAGCTTTGACTCCAAATCCCGTGTCAGTTACTGTCACGGGGAAGGAAAAAGGAAGAGTGAAAAGGTCTACAAAGTAACCAATTCAGTTACTTAGCAACTGGACAAAACTTGCCTCACTACAGAGGGTAAGGAGGCATCTCACACCCATTCAAAGAGTAACAGTCTACAATTTACATGCAAATAGATAAAGAAAAAAGGGAACGGGAAATCTAAATTAGCAACTGGAGTTTAGACAGTGAGACTGAGGCCCACATTTAAAAAAAAAAAAAAAGTTTATCCTAGGAAAGAGACAGGACATGTACAGAAATGAATGAATTAATAAATGAATGAATGAATGAATGCATGCATGCATGCATGCATGCAAAGCCACAGGCCCAACAAGTTTACAGTCTCCCTTCATAAAAGTCAATGCCACGGGGGAGAGAGGAAAGGGCCACACAAAGTTCGATACAATTTAAACATTTCCACGGCTAACATGAATTACAGGCTTACAGAAAATGTGAAGTTGGGAAAACTCCTGGGAAAGTAGGTACCCCCGCTCATGAGAAAAGCAAACAAAAGCATCACTCTTGGTGGAAGGTCTCTGGACTTTGGGTAGATCACAGCCTCTCCGGGTCTCTAGATACCCTCAGAAACACCCTCCAGTACCCATGCCTGAAATGCAGTTACTAAACTTGGATCTAACCCCGACTCTTAACAGGAGACACGCCGCCCTGCAGGTTTCCTAAGCAAGAGGGAGATACTGTCACCTACTTGGCTCGAGAAGGTGCTCCAGGCTTTTCAGTTTGCCCGAGGAGCTCCAACTCTCTGTCCCCAGCCTCTAGCTGCACACCCGAACCGGATTTGCTCAGTTCCAGGCTCAAAGGGGAAAGAGGACTGAGGGCTCATCCGCCCTCACCCCATCCCCCAACTTCACACCTGGACCAAGGCCGGCAGAGCCCAAGGCTGACTCCCAAAGACACGCCAGCCCAGACACTTACTTCTCATACTCGGTGTTGTCTCTGTCACAGCGAGAATCCTTGTGCTTTTGCCAGTCTTTGCCATGCTTGCAGGTGGTGAGGAGCACAACGTCCTCCCCGTTATGGACGTGATATAAGGCATTCCTGGTGTCTGATCCTATCCCTGTCAGGTACCTCTTCCCCTTGAATACCAGCATGTACTTCCTGAGAGGAGGGATGGTGTTGAACTTCAAAAACCCCCTCTCCCCTCCTGTCCTGGGATGATCCTTAGAAAAGAGGGGAATAGAAACATCAAAGTTGGGTCGGAAGTTTTCAGTACTGATGCTGGCTTTGGCCAGCATCGCCTGGCCGATGTCAAACCCCACGTCCTCGGTGTAGTCAGGCCAAGTGCCGGAATATAAATTAAAAATTAAATGATTCCTACCATTGTTCCACAAGTGGAGACTCTGCACTTTGGATCTCAAATTGTGCACATACTGAGGTGACAACTGGTCTCTGTCTAAAGTATCCAGACTCAGGACAAAGAGGCACGCCTGGCTGGGGTCCGAGGTGTAGAACCTGGAGCCCTCGATGGCCGCTAGAATGTTTTGGTAACTTTCGGCGATTTTCTCCCCTTTTTGCTGTGGGTATACGTAGACTTTGAAGCCGTTTTTCTTGCAAAGGGTGAAATCGAAGCAGGACTCCATGCGGCACTTCTTGCCTTTGTAGATGCTGGAGTTGGCATCTCGCTTCTGCCGGGGGGAAATGTGCACGCTGGAATCCTCGTTTTCCAATTGATCCCAAGGAACGAAGGGGCGCAGAGCGTCCGGGAAGCGGGGCCAGAAATGATCCGGACTGGGGTGGTGCAAGCCATTCCTACCGCTGTGTTCTTCTCTCCGGCTGTGGCTCCTCGATGCCCTAAACTGCAAGCCTCCGAAATAAAACAAAAGGGCGAGACAAGAGCCAGCTGAGAGCAGGATGAAATAGCGTTTTTTTGGCCTGCATGTGTCCTGCCTGGGTCAAGAGGATTGTAAATAAACACAAGAATCACCCAAGTTTCCCAATCAACACTTTCAGCTCCAGTCCGCCATCTTCCCGCCTGTAAAGACTTCAAACTCTCCGCTCCCACCTTCTCTGGATGCCTTTCCCCAAGCCGTGGACTGATCCAGCGCATGTGGGCGATTTCTTTAACTTTCTCCCCTTCGGTCTTTCATCTTTGGGTTGCACAATGCACGGGAGAGAGCGGGGCTGAATATCTCGCACCCAGGGCGGGCGAGCAGCGGACTGTAATTTTCTTGCATGCAACAAGACGGAGGAAAAGAAAGAGAGAGGGGAGAAAAAAAAAGCTCCCGATACCCAATCAATGGCAAGACGAAGTGATTGCCTTGCCTCTCGGATTCCTCTCGGCAGCGTGGAAAATGAGCCCCGGGAAGGCAACTTCAACTCATCCACCACTCTCCGTGCAGAGCACTCCGGTTCCAACAAGTCAGCCGATCCCGGGTTCAGCCGGCTAGTGCATCTTGCAGCTGGGGCGCCGTAACCTCACAAATCCCTGCATCTCTCTTTATTCCCTTCTGCAGCGGCTCCAAGACTCCGGCGGTGTTTACTCCTGCGCTCGCGGGGCCGGCCCCCGGGACGCGCGGCGGCCCGGCTGGAGGCGGCGGCGGCGGCGGCGCTGGGTGGCGGCGGCGGCGCGTCCTCCCCGCGGGCAGTGCCGGCCCCGAGCAGCGCTTCGCAGGCCCCCGCGCGAACGCTGCCGACCGCCGCGTTCGGTCGCCGAATGTTACCCGGTTCTGAATGTTACACTTACACATTCCATTCCCGACACGACAGCGCTGACCTCATCCATCCACGCAGCCCGCGCTGCCATTGGCCGAGCGTCACGTCCGGGGGGGGCGGTGCTTCCGCTGCGCCCATTCATAACCCCCGGCCGCGGGCCGAGGCGCCGGCGCGGCGTTGGGGGCGTAGGGGGCGCAGGGAGCCGGGGCTCCCGGGTTGCAAGCTGCCGGCGGGCTGCCGGGCAGGTGGAGCGCGGGACGGCCCGGTGCGAGCCCCGCGGCCCCTCGGCGCGCCCAGGCCCGGATCTCGGCCTGCGCCGTGCCGGGGACCAGAGGCGCCTGCGGAAACGCGGCGGCCGGGGAAGGAGGCACCGGCAGGGGCCCCGTGCCGCGCGGCCCCGGGCGCCCTGGAGAATCTGGCCTCCTGGGCTGCCTGCCGGAACGCCTAGAGAAAGATGCTTTGAAGGAGGGAAGCAGGGAGGAAAGGAAGACTTCATAGAAAGCGACCGCCGATCCGAAAGCTGCCTCTCCCAGCCCTCCTTCCACTCTCCGAGACCCAGTATTTCAATTTTCTGCTAAGCATTAAAACAATCTCCCCTTACTCCTCCTCTACATAGCACATTTTTTTAAACCAAAGAAACACCCCAATGCCCAACAATAAAGAGGAATTATTACAATCAAGAGGAATTGTTGCAATTCTTCATGCCTGCCTCTGTGCTAAGAGTGTAAGACGGCTATCCTAAATCCTCATTATCTACTTAGGCCGCCTTGCCTGAGCCCCCTCTGTCTATTATGAAGAAAGCTTCCAAGAGATCCAATCACAGAGAAAAAATAAATTTTCTAATGGCTGCAGGGAAACCAGTTAATTTAAGCTTGCCCCAGTCCTCAAAGTGATGTTATTCTCTTGGTGGTGGTGGTGGTGGTGGTGGTGTTAAAGATATCTCTTAAGGACATATGACTGGTAGAATTGCCAACTGTCCCAGCTATAGAAGGAACACTTGCATCAGGAAAACTACCTTATGTACAATTAGTGCCAAATAGTTGGTCCTTCCCTCACTGACCTCCCACTCCTTGGCCCAAGCTCCTGCCACTCCCAGTGGAAGAACTTCATTAGATAACTCAGGTAACCGAGGAGCAGTCCCGCTAAAGATCCTCCAGGTCCACAAAGATGTGCTAGGCTCCCAAACAGTATCTCTGGTCAAAGTCAAACTCCCTGGCCTCAGATCCTGAACACTGCTTTACAGAAAACACCTCCCAC | pathogenic | 138,644 |
Considering the variant on chromosome 8, location 125024613, involving gene WASHC5 (WASH complex subunit 5), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | benign | ATCAGATTCTGACAGGAAAGGCAATCAAGGGCTTTATAAGTTCCACTGTATAGCAACATTTATAAGGCAGCCCAGGATGACATCAAGAAACAGTGAGTGAACAAGTAAGCACTTGTAATACCCGGCATAATACCTTAAAATCCGTTAGGATTTACTGAGTTTATCTATAGTAAATTTGAAGAGACTATGGATGTTCAAAGGGTATCATCATAAAAGTTCAGTAAATCTCCAAATACCATGAAAGTAAATTGTTACTTCTGAAAGAGCAGTAAAATATAACCTGGCAAATGAAGTTACTACTTGAGATTCTAACAGGGCTAAAATATAACTTACAAAGCTTTTACAATAAAAATTTCAATTTTTAAGTTTTTTCAGTTGAAAAAAATTCTTCACTGGCCAAATCACTAGCAAAATCAGTTTCAAACATCACTGCCTTGTTTTAGTAGAGCATATGGTGGACCCATTTGCTTGGTTTCGTAAGATTCCCATCTAACTGACCCTAAACTTCTATTTTCTGGTTAAAAACTCACTTTCCCAGATCTGGCCTTCTTAGCAGTTAGTTAGCTTTCTTTTTCGAGAACAAAGATCTCACTTCATGTGGTTATTGTTAACAAGATTACAAATGAAAAATAACACGCTATCGTTGAGATATAGATGTTCCCACACACCGTCTTTGCAGGGGGTGAGACTTCCAAGCTCCCTACGTACCAAGCAACAGTTCTCTTAAAATTCTGCCCTGGCCTCGGTGCCCTCATGGCCAGGATTCGAGGTTACCCTTGTTCGCCACTGAGACTCCTTTAAAGTCCTTTCTACTATGATAGTGAAATAATCAAAGCCTGTAAAGTCTTTTCTTCCCTTCAATATCAGAATTTGAGGCCTTCTGACAAAAGAAATAAAATGAGAAAACCGAAGGAACCTGAGAAATCCTTTAGTCCTAATTTTACAGATGATGCCAGTAGGCTGGCTTGGGACAAGGTGTAGCTTGTGGCAGAACCAGGACTCAAACTTACCCTCCTGATTGCAAATCAGTACATCTTCCCCCACCACTAGCAAAATGACTGTCAAACAGATTTTGGCTTCTGGGTTTGGTTTGGTTTGTTCCTTCCTCTCCAGAGAAGGACATAACCATAGAGATTTAGGGTGGAAACATCTTTCTTGCTCTCATCCAAGTTGTTGATACCCAAGTTGCCACAGTAGGATGGCAGTGATATGGTGTGGCTCTGTGTCCCCACCCATATTTCTTCATAGCAGTGTGAGAACAGACTAATAGTGGCAGCTTCCTTTTCAGGGTAATTTTCATGCAGAAATGATTTAGGATTTCGAGGGAGTTAAGCTTATGGGAAGGCTATTACCAAAAAGGACTCTGGATAATGATACGGTTGTGGGGACTTGGGGCAGGACTCAGGTTGCTGAGGAAGATACCGGAAGGAGCAGCTTTGTTAAGGAGTCCTACAGAAGGAATGCTGTGGACCCCCTAGGGCATGTGGGATTGGAAGAGGATGATGAGACACCAAGAAACTTCAATGGCACATGACACAGATTGTGTGGCCACTACATTTGCTACTAGTCTGGCTATCACCACGTGCCTGCCAGCTTGTTGGGGGTGAGCTATTATACCTAGCAGAGTCATCTCTTATTCCAAACAGGGTTTTTTACAGGGTGAATACACAGTTTTTGAATCATAAGCGAGACGACTTTGGGTACTAGTAATACTATTTTACTGAAAATCTGGAGTTGCACAAATAGTTCTTTAGAACATAAAACTAAATGGATTTATACATAACAGTTACATTCAGCATTTAAGAGAGGCAGTACAAAAATGTGTTCTGCTTTTATCTGATATAAATTGCATGTAATACCATGATTTAAACAATATCAGTTATATTAACTAATGCCATGAGATATATCTTACTCAGAACGTCTGATGTTTCCCATAATAGACAGAAAAAATGCAGTTGTATGAGCAACTGAGTTTCTTTTCATCTTCAAATTCATTTGTGATGGTGGGAAGATCTAAGGACAATCCTTCCATTGAAGAAGTAGGAAAAACAGTTACAGCACTGTTCTGAACTCATCAAAAATGAAATTAGGCACATGTGCTTCAGCAACCTGAAAAATTAAAGAATTAAATTATTCATGGTGTTATAGTTGAACAATTACAAAATTTTCATACGTAAAAGAAAAGATATCCTTGGAGCAAGGTGAATAATAGAAGAGGAGACTCCCATGGGCGGACGACTCCTTGAAACAGCCCCTTTCTGCTTGTGGTGCCCCCTAGACTAGCGTCTCATTTCTTGGCACTGCTAACATTTGAGGGGATGCAGTACAGCTCTCCCGCCTCCAAATCTGAGCTTCTTGGCTCTTAAAGGTACCTTGATCTGCGAGGAATGTTCTTGCCTCTGGGAAGTACTGACAAGTACTCAGGTCACCTAATACACTTCATTAACTGATGACCAACAAGGAAGAACAGGATGGCTGGCAAGTGATGGGGTTGGAGAGGTAGGGGAGGGCAGGAATGAGAATGAGATACCAAGGCCAGAAGGGGAAGAGCAGGAAGGCCTTCAGAGGCATGCATTCCTGAACTGTTCTTGGGCAAAGCCCTGAGAAGACTAAATTGGGCTCAGTTGGGTAGAATGTAGAGGTAGGTGATCTCCAAGTGCTGGAGATGAGTATTTTTTAGAAGCAGTGTTTAATTTTTTTTCTGATCATAAAGGTATAACCTGCTAATGAGAGGAAATTTAGCAAATGCAGAAGAGTATAAAAATTATTTTTACAGTGGGTGGAGGGCAAGGGGAGGGAGAGCATTAGTATAAATACCTAATACATGTGAGGCTTAAAACCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACTAACATGGAGAAATCCCATCTCTACTGAAAATAAAAAAATCAGCAGGGCGTGGTGGTACGCATCTGTAATCACAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGGAGGCTGTAGTGAGCCCAGATCTCACTACTGCACTCCAGCCTGGCGACAGATGGCACATGTATAATACCTATGTAACAAACCTGCACATTCTGCACGTGTAGCCCAGAGCTTAAAATTTAAAAAAATATTTTTTTAATCTTAATCCCTTAAAGAAAATAAAAACTGGCAACTTTTGTAATGAATTTTTCCAGTTTACTTACATATGCAGACAGACACACACACACACACACACACACAATCAAAATTAGGATCACATAATATTGTGTCCTTCTCTACCTCTGCTAAATCTTATATTATGAACATCCTTGGGCACATATCTTGGTAAACCTTTGCACATATATCCAGCAGGTAAAATTCCTAGCAGTGGAATTGCTGGGATCAGGGTAAGTATATTACAAATGTTTTTTTAAAATAGATAAAGCTAAATTGCCCTCCTCAAAGGCTGTCAATTTACATTCCAATTAATAGCACTTACAAGTCCCATTTCTCCAAATGCTTCCGAATAATGGGGGCCCAACATTTTACCTTTCACCAACCTGATAAGTGGAAACAGTAATTTTCGTATTTGGATTTTTGTCCCTTGAATCCGAAGGTTTGTCATTTCTATTTTCTTGAAAACTGCCTCTTAATTTCCTTTGCCCTTCCCCTGCTTTTTTTCTATTGGCTTGGACATCTTTTTCATACTGAACTTGAAGATTTGAAGAGCACACTATAAATCAAGAAACTAGTCCTTTGTTGGTATTTCCTCTTTTGTCTTTTGTTTTTTAACTGAGACACTGACACAGAATTAATTACATTCAGCATTTATAAAAAATCAAGTCTCTAAATCTTTTTCTTTATAGTTTCTTCTTTTGGTTTTATACTTAGGAATTTCTGAGAGCTGATACATATTTGCCTAAAATTTCGGCTAATTTATTTGTTTCATATTTCACACTAACCCTTTATCTGTAATTAATTTTGATAACATAGGAGATGTAAAGGGGACTAAGTTGCTATTTTTTTAACTGTGTGAACTTACATCTATTGACTAATATTCCCT | ATCAGATTCTGACAGGAAAGGCAATCAAGGGCTTTATAAGTTCCACTGTATAGCAACATTTATAAGGCAGCCCAGGATGACATCAAGAAACAGTGAGTGAACAAGTAAGCACTTGTAATACCCGGCATAATACCTTAAAATCCGTTAGGATTTACTGAGTTTATCTATAGTAAATTTGAAGAGACTATGGATGTTCAAAGGGTATCATCATAAAAGTTCAGTAAATCTCCAAATACCATGAAAGTAAATTGTTACTTCTGAAAGAGCAGTAAAATATAACCTGGCAAATGAAGTTACTACTTGAGATTCTAACAGGGCTAAAATATAACTTACAAAGCTTTTACAATAAAAATTTCAATTTTTAAGTTTTTTCAGTTGAAAAAAATTCTTCACTGGCCAAATCACTAGCAAAATCAGTTTCAAACATCACTGCCTTGTTTTAGTAGAGCATATGGTGGACCCATTTGCTTGGTTTCGTAAGATTCCCATCTAACTGACCCTAAACTTCTATTTTCTGGTTAAAAACTCACTTTCCCAGATCTGGCCTTCTTAGCAGTTAGTTAGCTTTCTTTTTCGAGAACAAAGATCTCACTTCATGTGGTTATTGTTAACAAGATTACAAATGAAAAATAACACGCTATCGTTGAGATATAGATGTTCCCACACACCGTCTTTGCAGGGGGTGAGACTTCCAAGCTCCCTACGTACCAAGCAACAGTTCTCTTAAAATTCTGCCCTGGCCTCGGTGCCCTCATGGCCAGGATTCGAGGTTACCCTTGTTCGCCACTGAGACTCCTTTAAAGTCCTTTCTACTATGATAGTGAAATAATCAAAGCCTGTAAAGTCTTTTCTTCCCTTCAATATCAGAATTTGAGGCCTTCTGACAAAAGAAATAAAATGAGAAAACCGAAGGAACCTGAGAAATCCTTTAGTCCTAATTTTACAGATGATGCCAGTAGGCTGGCTTGGGACAAGGTGTAGCTTGTGGCAGAACCAGGACTCAAACTTACCCTCCTGATTGCAAATCAGTACATCTTCCCCCACCACTAGCAAAATGACTGTCAAACAGATTTTGGCTTCTGGGTTTGGTTTGGTTTGTTCCTTCCTCTCCAGAGAAGGACATAACCATAGAGATTTAGGGTGGAAACATCTTTCTTGCTCTCATCCAAGTTGTTGATACCCAAGTTGCCACAGTAGGATGGCAGTGATATGGTGTGGCTCTGTGTCCCCACCCATATTTCTTCATAGCAGTGTGAGAACAGACTAATAGTGGCAGCTTCCTTTTCAGGGTAATTTTCATGCAGAAATGATTTAGGATTTCGAGGGAGTTAAGCTTATGGGAAGGCTATTACCAAAAAGGACTCTGGATAATGATACGGTTGTGGGGACTTGGGGCAGGACTCAGGTTGCTGAGGAAGATACCGGAAGGAGCAGCTTTGTTAAGGAGTCCTACAGAAGGAATGCTGTGGACCCCCTAGGGCATGTGGGATTGGAAGAGGATGATGAGACACCAAGAAACTTCAATGGCACATGACACAGATTGTGTGGCCACTACATTTGCTACTAGTCTGGCTATCACCACGTGCCTGCCAGCTTGTTGGGGGTGAGCTATTATACCTAGCAGAGTCATCTCTTATTCCAAACAGGGTTTTTTACAGGGTGAATACACAGTTTTTGAATCATAAGCGAGACGACTTTGGGTACTAGTAATACTATTTTACTGAAAATCTGGAGTTGCACAAATAGTTCTTTAGAACATAAAACTAAATGGATTTATACATAACAGTTACATTCAGCATTTAAGAGAGGCAGTACAAAAATGTGTTCTGCTTTTATCTGATATAAATTGCATGTAATACCATGATTTAAACAATATCAGTTATATTAACTAATGCCATGAGATATATCTTACTCAGAACGTCTGATGTTTCCCATAATAGACAGAAAAAATGCAGTTGTATGAGCAACTGAGTTTCTTTTCATCTTCAAATTCATTTGTGATGGTGGGAAGATCTAAGGACAATCCTTCCATTGAAGAAGTAGGAAAAAAGTTACAGCACTGTTCTGAACTCATCAAAAATGAAATTAGGCACATGTGCTTCAGCAACCTGAAAAATTAAAGAATTAAATTATTCATGGTGTTATAGTTGAACAATTACAAAATTTTCATACGTAAAAGAAAAGATATCCTTGGAGCAAGGTGAATAATAGAAGAGGAGACTCCCATGGGCGGACGACTCCTTGAAACAGCCCCTTTCTGCTTGTGGTGCCCCCTAGACTAGCGTCTCATTTCTTGGCACTGCTAACATTTGAGGGGATGCAGTACAGCTCTCCCGCCTCCAAATCTGAGCTTCTTGGCTCTTAAAGGTACCTTGATCTGCGAGGAATGTTCTTGCCTCTGGGAAGTACTGACAAGTACTCAGGTCACCTAATACACTTCATTAACTGATGACCAACAAGGAAGAACAGGATGGCTGGCAAGTGATGGGGTTGGAGAGGTAGGGGAGGGCAGGAATGAGAATGAGATACCAAGGCCAGAAGGGGAAGAGCAGGAAGGCCTTCAGAGGCATGCATTCCTGAACTGTTCTTGGGCAAAGCCCTGAGAAGACTAAATTGGGCTCAGTTGGGTAGAATGTAGAGGTAGGTGATCTCCAAGTGCTGGAGATGAGTATTTTTTAGAAGCAGTGTTTAATTTTTTTTCTGATCATAAAGGTATAACCTGCTAATGAGAGGAAATTTAGCAAATGCAGAAGAGTATAAAAATTATTTTTACAGTGGGTGGAGGGCAAGGGGAGGGAGAGCATTAGTATAAATACCTAATACATGTGAGGCTTAAAACCTAGGCTGGGCGTGGTGGCTCACGCCTGTAATCCTGGCACTTTGGGAGGCTGAGGTGGGTGGATCATGAGGTCAGGAGTTCAAGACCAGCCTGACTAACATGGAGAAATCCCATCTCTACTGAAAATAAAAAAATCAGCAGGGCGTGGTGGTACGCATCTGTAATCACAGCTACTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCAGGGAGGCGGAGGCTGTAGTGAGCCCAGATCTCACTACTGCACTCCAGCCTGGCGACAGATGGCACATGTATAATACCTATGTAACAAACCTGCACATTCTGCACGTGTAGCCCAGAGCTTAAAATTTAAAAAAATATTTTTTTAATCTTAATCCCTTAAAGAAAATAAAAACTGGCAACTTTTGTAATGAATTTTTCCAGTTTACTTACATATGCAGACAGACACACACACACACACACACACACAATCAAAATTAGGATCACATAATATTGTGTCCTTCTCTACCTCTGCTAAATCTTATATTATGAACATCCTTGGGCACATATCTTGGTAAACCTTTGCACATATATCCAGCAGGTAAAATTCCTAGCAGTGGAATTGCTGGGATCAGGGTAAGTATATTACAAATGTTTTTTTAAAATAGATAAAGCTAAATTGCCCTCCTCAAAGGCTGTCAATTTACATTCCAATTAATAGCACTTACAAGTCCCATTTCTCCAAATGCTTCCGAATAATGGGGGCCCAACATTTTACCTTTCACCAACCTGATAAGTGGAAACAGTAATTTTCGTATTTGGATTTTTGTCCCTTGAATCCGAAGGTTTGTCATTTCTATTTTCTTGAAAACTGCCTCTTAATTTCCTTTGCCCTTCCCCTGCTTTTTTTCTATTGGCTTGGACATCTTTTTCATACTGAACTTGAAGATTTGAAGAGCACACTATAAATCAAGAAACTAGTCCTTTGTTGGTATTTCCTCTTTTGTCTTTTGTTTTTTAACTGAGACACTGACACAGAATTAATTACATTCAGCATTTATAAAAAATCAAGTCTCTAAATCTTTTTCTTTATAGTTTCTTCTTTTGGTTTTATACTTAGGAATTTCTGAGAGCTGATACATATTTGCCTAAAATTTCGGCTAATTTATTTGTTTCATATTTCACACTAACCCTTTATCTGTAATTAATTTTGATAACATAGGAGATGTAAAGGGGACTAAGTTGCTATTTTTTTAACTGTGTGAACTTACATCTATTGACTAATATTCCCTN | benign | 138,831 |
Does the chromosome 8 mutation at position 125043973 within gene WASHC5 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | CCTGTATCTGGCCCATATAATTCTTTGCTTAATTTTCTATGTGTAGTATACTCTGTGTCAAGGATCCTCTTGAAAATATCAATCTAGAACTGGAAATAGAAATAAAGTCAGTTTAATATAACTTGCTCTCGTTTACTGCACAATGAATCTTTGTTAGTGACATTTTCTATTTTTGGTACTCACGCACTTCAAGCTTTAATAAGCTGCTGAAGAGGCTAAGGAGCCTGGGATGGATGAGAAACTTATTCTACCTACTCATTTGCCTCTTTGGAGATATCTGGCTTATCACTCTTTCTCCAAGATTTTTCTAGAGTTGCACTATTGAGTACAGCAGCTCCTAGCGATGTGTGGCTATTTATATTTAAATTAATATGAAATAAAATTAAAAATTGCATTTCACTGTCCCACAACCCACATTTCATGAGCTCAATAGCTACACAGGGCTAGGAGCTGCTGTCATCATCGAATAGCACAGAACATTTCCATTGTTGTTCCAGATTATTAACACTGGCTCCGTGACTGTACGCACCCTAATTCAAGACAAAAAGACAAATTTGTCCTTTGGGGCTTTATTTAAAGATCACTGACTCGGTCACAGTCACGTGGCTGTTACTGAATTACTGGCAACTATAACCAATAGTTGGAATAGCTACTGGACTGAGAACCCTCCAGTAAGCAAGGGGAAAACCTTCCAGTTTCTTGGAAGAATCCCTGTAATCCCCCTAACGCCTCCTACAGAGTTGGGACTCACACCTGTCCAAACTCGGGTGATTCTTTATTCCTCCTAAAGGGTTTTCCAGCAATTAGAAACTTGGCCTGGGAAGCGCTTAATATCTGACAATCATGAGGCTAGGGGAAGGCAGACCCACATCACGAGAGGATATCTAGCAGAGCCATGGGCTCCTTGCCTTACCTGTTCTGTTTAATGATCCAAACAACAACAACAACAACAACCACTCACCAAAATTATGGGAAATATATTGTGAATTTGGCTAAGATACCAATGAGTGCTGTCTCAATGAGAAACTTATATAATTGGGAATCAGAGAATGGAACTTTTCAAAATTCCCTTAGCATTCTAGAATTCTAGACTTTTCTACAGTATGTGATATTTTTGACCACAAACCAGTTTTCTACCAGGAAGTCTACTCTTCCCTGCTAGATTGTGAGTTAGCTAAGGAGACCGGTCATGTTTCATTTAACTCTGTCTTTCACAGCAACTGACAATGCCCTGGGTATAATGGGTGTGCAAGAATGGGCTGTGATGATCTCAGATTATCAGATGATGAAAGAAGACTCGCAGAAGATGCAGGGGTCCCTGGGAGCTCCTACTGCCGAGTAAAGGCAGGAAACTAGGCAGCTGGATTCTAAAATAAGTTAGACTTCCATCCAGCAAATTAATCTCTTCGTCTTTCTTATTCATTTCCAAAGTAAGACTGCTTTCTGCAGAGTATAAGGATAATTTATGCCCCAAAGAACCTGGCTTCCTAACATCTATGCAGACACAAGAGGGCAGAGAGACAATGTTCTGTTCTAACAGCAGCTTGGAGCAGATGAGGTGTGTATAAATGAACTTTGTTATGTAAAAAGGGAGTATTACTGTGCAAGGAAAAGTTCAATTTTCATATATAAAAGCACCTCTAGCCAAAAGGCATTTTACAAAGAGCCAGTTTTCTTGAACAAAAGGAAAACGCTAGGCTCCTAAAAAGCCTAATCAAGAACAGATCCAGAAACGGAGATAAACAAAATGAATTTTAAAATGATAAACTGAAGTATTAAAATATTTTTGATTTAATGACAAAAGAAAGAAGAGTAGCTTTTTTTGGGCAACAAAGTTACAAGAAAATAAAAAATTTAAAAATGTAAGTATTGACTGTACACCCTCTCTTCTACAACATACCTTCATTATAGCCTCGAGATACGCAGTCCAAATCTTCTGTGTTTTGGCAATGGCGGAAAAATAAATTTTATTTGAATTTGCTGAAAAGTTAAAACATAATTTTCTCTTTAGTACATTCGTAAAGGCTACAGTGTCATCCCCGCCTCAGGTAGTTTCAGGACACTCACCGACAATACTTTTTAGGGGACTGACAGCATTCATGAGGGTTTTTAAAGTGTCCTGAACAGTTCTGTCTCTCAGGATAATTTTCTGAAACATACTGAGGAAATTCTAAAAACAAGAAGGCACGGTCAAAGAACCAAACATAATGAATTAAACAAGCAAATTCTCCAGTTACCTAAAATGCTATGCAGAACAGAGGCTGGGCCTAAGTCACACAAAACCTCTAAACAGGATGACAGCAAAAAGAAGCAACTTCAGGTTCCTGTTAGAAACATCCCTTGCTAGGAAAAGTCACTGGCTTCAAGGATTAAAAAGTCTTATCTTCCCAAGTTGAAACTTACAAAAACAGTCTAATCCTAAAAGTACTATGCTGGCCAAACAAATTCTAGTTTATTCCCAGCTCTGATCTACCCAGTAGGTATCATATGCCTAAAGTCAGTGTAAGAAATCATGGAAGAAAGGTTAAGTGAGTTCAAACTGCCCACTAAAATATGTTCTTGCCTCTCCCCCAGGGTGGCAGAAAACAGGCATGAAAGTCAAAAGGCTCACCTGTAACTCTTTTACAATCATAAAGCACAGAAGCCTGTCTAAGCCATTTAGACCAAAGGTTCCCAAGGTGGTCTGGATTTCTGAGAAGAGGCGGCTGCTGGTCACTTCCTGATGAGTTTTCATATCATACCAAGTGTTCAGCTGGTCTATGTGACATGTCATTCTAAAATGAAAACAATGCAAAAACCCCAGAATGGCTCAGAATTCATCCTTAAAGAGATGTTAGGACTCAACAGGACATGCGGCACCAAATATGAAGAACAGGAGTTACATGATCTGTGTTTTCTAACCTCTGTATTCAGGCACCCAATGCGTCTTCCCAGTGACACCCAATGGAACAGGAAGGTAAAATTCAGTCTGACCCCCTTTTCCTGCCCTATGCCATATCATTGGTTTCAGTCATTTATTTCCATTGAGTTAGGGTGTTGACTTGGAATCATGCTGAGAAGACAAGGTTAGGTTCAGCTGTCAGGCTGGAAGACTTTAGAGCCCATTTGTCTCTCTATGCAGCCTTCCTTTAAATTTCCAGTTTGGAGACAAAACAAGGCCTTGTGTCATTTCCATTTGATAAAAAAGGAACCTAGAATCTCCATATGCTACCTAACATTTGAGACTATGACGACAAAGCAATTTGCTTTTTCCTCCCAGTTCCTTAAACTTGTAGATGCCATCTTCTGGTCCTCTCCAAATGATTCTTTTTAGACTCAGAAGTGTGATGATGACAGTGACAACAACCAACCATATTTACTGGGCACTTATTGTGCACCAGGTGCTGTGTGTGCTAAGACCTTTCCATGTGCTATTTCATCCTCATAATAGCTCTGTGGAATACAAACCATTTCATCCTCATTTTATAGATAATTGAGGCTCTCATAGGTCTGACCACCACCCTTAACCACCATTTCAATGGTTTTCAAACACTGAGAGAGGGACCCTGAGTCCCTGGTAGAGCTTGTCTGAAATACAGATGCCCAGCTTCCATTCCTGACGAATCTGATTTAATAGTTCTGGGGGAGAGCTCTGGCCTTTGCATTTTCAGCAAGCTCCACAGATGACATATCCTATTGTCCAAAGCCACCACATACCTTTACCAGAAGGAGGCGTGAGAAGGGGTTGAAAGAGCCTAGAAGCAAGGGAGGTTTTAAATCAGGAAGTAAATAGGGAGAACAAAACAAGAGGATTCCCAAACTGCTTACAACTTCCATCTGCTTGCTTCAAAGACTCCTTCTGCCACCAAGTACACTCTGATGTGTCACTGGGGAGGCCCCCAATTCTGATGATAAAATTCATATATGATGTGGAAATTCTGGTCACACTTAATCCTCTCTGCCTGCACTAATAGGGCACTGGGTGGATAGTTTTCTAAAAAGGCTTCGGTGATTGAAGGCTACCAAGAAAGAAGGAGCTATACAACTTTTTGAATCACTTACTTTTTTTGTCCCATGAGTCAAAATTCCTTATTTCTGCTAGAAATTTTGGAATAAG | CCTGTATCTGGCCCATATAATTCTTTGCTTAATTTTCTATGTGTAGTATACTCTGTGTCAAGGATCCTCTTGAAAATATCAATCTAGAACTGGAAATAGAAATAAAGTCAGTTTAATATAACTTGCTCTCGTTTACTGCACAATGAATCTTTGTTAGTGACATTTTCTATTTTTGGTACTCACGCACTTCAAGCTTTAATAAGCTGCTGAAGAGGCTAAGGAGCCTGGGATGGATGAGAAACTTATTCTACCTACTCATTTGCCTCTTTGGAGATATCTGGCTTATCACTCTTTCTCCAAGATTTTTCTAGAGTTGCACTATTGAGTACAGCAGCTCCTAGCGATGTGTGGCTATTTATATTTAAATTAATATGAAATAAAATTAAAAATTGCATTTCACTGTCCCACAACCCACATTTCATGAGCTCAATAGCTACACAGGGCTAGGAGCTGCTGTCATCATCGAATAGCACAGAACATTTCCATTGTTGTTCCAGATTATTAACACTGGCTCCGTGACTGTACGCACCCTAATTCAAGACAAAAAGACAAATTTGTCCTTTGGGGCTTTATTTAAAGATCACTGACTCGGTCACAGTCACGTGGCTGTTACTGAATTACTGGCAACTATAACCAATAGTTGGAATAGCTACTGGACTGAGAACCCTCCAGTAAGCAAGGGGAAAACCTTCCAGTTTCTTGGAAGAATCCCTGTAATCCCCCTAACGCCTCCTACAGAGTTGGGACTCACACCTGTCCAAACTCGGGTGATTCTTTATTCCTCCTAAAGGGTTTTCCAGCAATTAGAAACTTGGCCTGGGAAGCGCTTAATATCTGACAATCATGAGGCTAGGGGAAGGCAGACCCACATCACGAGAGGATATCTAGCAGAGCCATGGGCTCCTTGCCTTACCTGTTCTGTTTAATGATCCAAACAACAACAACAACAACAACCACTCACCAAAATTATGGGAAATATATTGTGAATTTGGCTAAGATACCAATGAGTGCTGTCTCAATGAGAAACTTATATAATTGGGAATCAGAGAATGGAACTTTTCAAAATTCCCTTAGCATTCTAGAATTCTAGACTTTTCTACAGTATGTGATATTTTTGACCACAAACCAGTTTTCTACCAGGAAGTCTACTCTTCCCTGCTAGATTGTGAGTTAGCTAAGGAGACCGGTCATGTTTCATTTAACTCTGTCTTTCACAGCAACTGACAATGCCCTGGGTATAATGGGTGTGCAAGAATGGGCTGTGATGATCTCAGATTATCAGATGATGAAAGAAGACTCGCAGAAGATGCAGGGGTCCCTGGGAGCTCCTACTGCCGAGTAAAGGCAGGAAACTAGGCAGCTGGATTCTAAAATAAGTTAGACTTCCATCCAGCAAATTAATCTCTTCGTCTTTCTTATTCATTTCCAAAGTAAGACTGCTTTCTGCAGAGTATAAGGATAATTTATGCCCCAAAGAACCTGGCTTCCTAACATCTATGCAGACACAAGAGGGCAGAGAGACAATGTTCTGTTCTAACAGCAGCTTGGAGCAGATGAGGTGTGTATAAATGAACTTTGTTATGTAAAAAGGGAGTATTACTGTGCAAGGAAAAGTTCAATTTTCATATATAAAAGCACCTCTAGCCAAAAGGCATTTTACAAAGAGCCAGTTTTCTTGAACAAAAGGAAAACGCTAGGCTCCTAAAAAGCCTAATCAAGAACAGATCCAGAAACGGAGATAAACAAAATGAATTTTAAAATGATAAACTGAAGTATTAAAATATTTTTGATTTAATGACAAAAGAAAGAAGAGTAGCTTTTTTTGGGCAACAAAGTTACAAGAAAATAAAAAATTTAAAAATGTAAGTATTGACTGTACACCCTCTCTTCTACAACATACCTTCATTATAGCCTCGAGATACGCAGTCCAAATCTTCTGTGTTTTGGCAATGGCGGAAAAATAAATTTTATTTGAATTTGCTGAAAAGTTAAAACATAATTTTCTCTTTAGTACATTCGTAAAGGCTACAGTGTCATCCCCGCCTCAGGCTAGTTTCAGGACACTCACCGACAATACTTTTTAGGGGACTGACAGCATTCATGAGGGTTTTTAAAGTGTCCTGAACAGTTCTGTCTCTCAGGATAATTTTCTGAAACATACTGAGGAAATTCTAAAAACAAGAAGGCACGGTCAAAGAACCAAACATAATGAATTAAACAAGCAAATTCTCCAGTTACCTAAAATGCTATGCAGAACAGAGGCTGGGCCTAAGTCACACAAAACCTCTAAACAGGATGACAGCAAAAAGAAGCAACTTCAGGTTCCTGTTAGAAACATCCCTTGCTAGGAAAAGTCACTGGCTTCAAGGATTAAAAAGTCTTATCTTCCCAAGTTGAAACTTACAAAAACAGTCTAATCCTAAAAGTACTATGCTGGCCAAACAAATTCTAGTTTATTCCCAGCTCTGATCTACCCAGTAGGTATCATATGCCTAAAGTCAGTGTAAGAAATCATGGAAGAAAGGTTAAGTGAGTTCAAACTGCCCACTAAAATATGTTCTTGCCTCTCCCCCAGGGTGGCAGAAAACAGGCATGAAAGTCAAAAGGCTCACCTGTAACTCTTTTACAATCATAAAGCACAGAAGCCTGTCTAAGCCATTTAGACCAAAGGTTCCCAAGGTGGTCTGGATTTCTGAGAAGAGGCGGCTGCTGGTCACTTCCTGATGAGTTTTCATATCATACCAAGTGTTCAGCTGGTCTATGTGACATGTCATTCTAAAATGAAAACAATGCAAAAACCCCAGAATGGCTCAGAATTCATCCTTAAAGAGATGTTAGGACTCAACAGGACATGCGGCACCAAATATGAAGAACAGGAGTTACATGATCTGTGTTTTCTAACCTCTGTATTCAGGCACCCAATGCGTCTTCCCAGTGACACCCAATGGAACAGGAAGGTAAAATTCAGTCTGACCCCCTTTTCCTGCCCTATGCCATATCATTGGTTTCAGTCATTTATTTCCATTGAGTTAGGGTGTTGACTTGGAATCATGCTGAGAAGACAAGGTTAGGTTCAGCTGTCAGGCTGGAAGACTTTAGAGCCCATTTGTCTCTCTATGCAGCCTTCCTTTAAATTTCCAGTTTGGAGACAAAACAAGGCCTTGTGTCATTTCCATTTGATAAAAAAGGAACCTAGAATCTCCATATGCTACCTAACATTTGAGACTATGACGACAAAGCAATTTGCTTTTTCCTCCCAGTTCCTTAAACTTGTAGATGCCATCTTCTGGTCCTCTCCAAATGATTCTTTTTAGACTCAGAAGTGTGATGATGACAGTGACAACAACCAACCATATTTACTGGGCACTTATTGTGCACCAGGTGCTGTGTGTGCTAAGACCTTTCCATGTGCTATTTCATCCTCATAATAGCTCTGTGGAATACAAACCATTTCATCCTCATTTTATAGATAATTGAGGCTCTCATAGGTCTGACCACCACCCTTAACCACCATTTCAATGGTTTTCAAACACTGAGAGAGGGACCCTGAGTCCCTGGTAGAGCTTGTCTGAAATACAGATGCCCAGCTTCCATTCCTGACGAATCTGATTTAATAGTTCTGGGGGAGAGCTCTGGCCTTTGCATTTTCAGCAAGCTCCACAGATGACATATCCTATTGTCCAAAGCCACCACATACCTTTACCAGAAGGAGGCGTGAGAAGGGGTTGAAAGAGCCTAGAAGCAAGGGAGGTTTTAAATCAGGAAGTAAATAGGGAGAACAAAACAAGAGGATTCCCAAACTGCTTACAACTTCCATCTGCTTGCTTCAAAGACTCCTTCTGCCACCAAGTACACTCTGATGTGTCACTGGGGAGGCCCCCAATTCTGATGATAAAATTCATATATGATGTGGAAATTCTGGTCACACTTAATCCTCTCTGCCTGCACTAATAGGGCACTGGGTGGATAGTTTTCTAAAAAGGCTTCGGTGATTGAAGGCTACCAAGAAAGAAGGAGCTATACAACTTTTTGAATCACTTACTTTTTTTGTCCCATGAGTCAAAATTCCTTATTTCTGCTAGAAATTTTGGAATAA | benign | 138,841 |
Chromosome 8, position 125083263, gene WASHC5 (WASH complex subunit 5): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | benign | TCACAAGACATAAGAATCTTACTTTTTTTTTTTTTTTTTTTGAGACATAGTCTCGCTCTGTCACCCAGGATGGAGTGTAGTGGCATGATCTTCGCTCACTGCAACCTTCGCCTCCCGAGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGAATTACAGGCGCCCACCACCGTGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTATCAAACTCCTGACCTCAGATGATCTGCCTGCCTTGGCCTCCCAAAAGTGTTGGGATTACAGGCGTTAGCCACTGTGCCCGGCTGAATCGTATACTTTCTTATCTATTCTTGGATTACTGCTGTTCACAGTATAAGGAATATGGGGACATACACTGCATTTTACCGACAGCAGCGTTTCGGAAGTGTAGTCCTAGCCCAGGAATACCTGTATCGGTAGTAAGAAACCAGCATCCTCTCTCTGACTTCTCCTTCAATCTTTTGGTCAATGACCAGTAGCATAACTCCATATAAGTACAGTGCTTCACACTAAGAAGAGAAGAGGACAAAAGCCAAAATCACTAGATTATACATTCTTAGGGAGTAAAGTCGGTAATCATGAAAAATATTGCTTTGCTCACACTTCTTCAAAAAGTTTTAGATTTCAAGGAAAAGGTAGGTTTCCTCCAAGGAGCTCTTACCTTCTTGCCGAATGGGCCTTGAAAAGTTTATGTAAAACAGATTTTAATTCATAGTGATAATTTTTCAGTTGACCTATTTTGGCTATGTTGCTTGGGACACCAAAATAGCAACCCAATATTGTGTATACCTCTTCATCATAAAATCATTCACTTATTCAATCAGCATTTCTTAAATGGTTAGTATGTACTAGGTATCAGGACAGATGGCTGGGATGCAAAAAGTAAAGAAGACAGAATTCTTACACCGAGGAGGCTCATAACTTCCACATAACTTTTAACTGTTTTAAATTCTGTTCAAAGTCTATGTTCTAAACTCAGATATGGACCTGCCAGTTAGAAGATAATTAAAAGCTCATTTCGCTTCTCTTTAAAGAATGGTATTTCGTATATATTTGTGACTTAAAAGAAAAAAAAGTGATACTATGTTTGATATTCTTGAATTTCATTTTAAATAATCATTATTACTTACTAGAAGTTGTTTTCCATCTTCATTGAGAAGCACAGTTTCTAAGGTTTGCTGAATATAAACCCCTTCATTGAGATCATCTAGATATCTAGAAATAAAACCACAGTGCAAGTTATTAATTTATAATAGAAACTTTAACATCTTTAAAGAAGGAAAGATTTTTAAAAGATAAGGCAGGATGCCAGGCATTCTGGCCTTCCACTAGTTCATGGTCCTTCATGCTCTTAAGAATACAGTCTTATAAACTGATTTAGGGCCACAGTTTGATATTTATCGCTGTTCCAAGTAAAAGAAATATTCCCTAGTCCTGATTTGTGAATTACAAGTATCTAGGAGTAAAGGCAGAAGAACATGGAATATCTAGTCTAAAAGTTAATGAGTAATGAATTCTTAAGAAGTGTATTAAGAGACAGAAAGTTAATGATAAAGATAAGTTCTTTTTCCCACTTTTCACATATAATACACTAGGATATGATAATAAATAACAGGATTGGAAACTATATGACTTAGTTAAACTAAGTTTATTACAACACCTCATAAGAGCAGGACATTATAGTAAAACTTCAAAATTCTTAAGATGACCAGTGCCACAGGTAGGAAAAGACAACTATATACAGTATAAACTAAATTAGGAAATTTTGTAGTAACTCAGAGAGATTTACACGTTGCTATGTGTCCTTTTCCCTCTCCACTATTTACTACCAGAATAAGCTATTCCTAAATAGATCAATACCTGTTTAAGTCTACAATATATTTATGTACACTTTGAAATGCTAAATAAAATCTGGTCACAATTTCTATGTTGTTTTCACGAAATTCTTCATCTAAATCCTGTAGCTCTGGCTTAGCATCCAGTTTGCTTTCCCATAATTCTGGACCCTGAGAAAAAAAAACACATGTGAAATGTCAATAAAAGCATACTTGTTGGTGACAATTTCTAAATAGTCTTTTAAAAATTTGTTCTTATGTTATTAGACATCCCAAACTTAAAGCAGAGCAACAGAAAGTAGTGAAGATAATAGAAGCCTAGATATAAAATCCCTTTGAGAGAAATGAATTTGAATTGGACCCAAGATTAGCATGCTTTTAAGTATGGGGCCCTTCAATGTGAAATATCAAAGTTATCTTTTAAAAATACAATTATATTGTGTTAGGGCTTTGACATAATACTTTCAACTTATTTTCAAGTTAGTAGCTAATATTAAGTTTAGTCGAAAAGCTCTTCTCTTTAGCTTTTTCCATAATTCCTTAACCTTACAGAGTTTCATGGTTCCCAGAGAAAACACGCTTTTGTAGAAAAGACAACAATAAAAATGCTATAGAGGAAGATTACCTTAAAATAGCTGAAATCAAATATGATATCTCCATATTTCTGTTGATCAGCTCTGTCTTTTAACCTGAACACAGCAGGAATAAACTCAGAGAGTCTCAAAAGTTCAGCAATGATGGCATTACCACAGGAAACAATCCTTAGGATTGCTTGGCCACAGAGGTTGTTCTCGGCTAGAAAGTCCAACATTGTGAGGCGGACCGACTACTCTGTGCCTGGACACTGGGGATGATTAACTGGCCTCAGAGCTGGTGTCTGTATATTATTAGATGAAACCAGGTGTGCAGAGAGATTGGCTCCTCCATTAAAGAACCTGTATCCCCAAAAAAAGTGTGAAAATCTCAATTTGTTTAAGGAAGCACATGTGTACACATAAGAAACACATTTTTCTCCCAAACTCACTAAAAAAATTTTAAGAAATAATGAGTTCCTTTATAGGGGAAAGGGTGTTTATCTGTCACTCTTCATATTTTCCATGTGGAGGGACTTTGCTAGATTAACACTCTTGGCCTCTTCTTCAACATGTTAGTCACTTCTCTTGAGAAAAAGATATGATACAGCTCATCTCTGTGCTAGGGAGAAGGAACCACTGGGCATGTGTGGTTCCAATGTACCCTGATTATACAAGCTATCTCCTACTATTTGATATATTAGCAAATAATTTCAAACGCTATAAAGAGAGCTCAGAGACAAATCCCTGTACATCATTTTGAGGCATTTGTCCAATTATTTCCCAGAAATGGAACTGCAAGCTTAAGGTAAGAACATGTCCAAGATTCCTTTTAAAATTACAGATGCTAGGTTCTGCAAAATTCTGTGAAGATGATTTATAAATACTAAATCAAACTGGTCCAAAAGTCTCATAAAATTCAGCACTTAGGTATCTAGCACTGTTAGCAGAATCCATTACTTGCTTCTCTTGTATTCCAATGCACTCTCTGAGGATGGTTAGATCACTTAGCATACTGAATATTATCGTTGCTTACAGCTCATTCTGAAAGTTCTTGAAGGCAAGGATTGATCTTTACCCAACCACTCCTTGCTGAATACCTCTTTGCCAGGCTGGATATGAAGATGTTTAAACATCTCACCTTCTAGTCCAGTGGTTCTCAAGCCTGGCTGCTTAAGGGAATCACCTAGCATCTTAGAGTTTCTGGTAAGTAGGTTAGAGGTAGTCCTAAGCATCTCTGTTTTTAAGAATCTCCCCGGATGATTCTGATGTGAAGCCAGGATCATTAAAAGAGTAGAGAATGACTGGTCTTATAGAAAACTGCAGCAGGCAAACAGGAAATTAACAATATTTATCTTTGTGCCCTTTGTGCTGAACTCATTCCTTGGCACTGACAAGTATAAGGAGTGCATAAATAATACTAGGGTTACAAGAGGTGATGTCTGTCCTCTCTAGCTGCCTGCTATACTGCTGGAGATGAGCCCTGAAGAAAAAAAATCAGAGAGATGAAGTGCTTCAGTGTGTCTTTACAATAAAGAAATAAGAAGTGTAACATACATTTAATTGTCAGTATGGAGCATTTATTAGGTGTTCTGTTGGGAAAGGTATTCTTATACTGGGTGATCTTTAGTAAAGTGACATCTAGGAATTC | TCACAAGACATAAGAATCTTACTTTTTTTTTTTTTTTTTTTGAGACATAGTCTCGCTCTGTCACCCAGGATGGAGTGTAGTGGCATGATCTTCGCTCACTGCAACCTTCGCCTCCCGAGTTCAGGCGATTCTCCTGCCTCAGCCTCCTGAGTACCTGGAATTACAGGCGCCCACCACCGTGCCTGGCTAATTTTTGTAGTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGGCTGGTATCAAACTCCTGACCTCAGATGATCTGCCTGCCTTGGCCTCCCAAAAGTGTTGGGATTACAGGCGTTAGCCACTGTGCCCGGCTGAATCGTATACTTTCTTATCTATTCTTGGATTACTGCTGTTCACAGTATAAGGAATATGGGGACATACACTGCATTTTACCGACAGCAGCGTTTCGGAAGTGTAGTCCTAGCCCAGGAATACCTGTATCGGTAGTAAGAAACCAGCATCCTCTCTCTGACTTCTCCTTCAATCTTTTGGTCAATGACCAGTAGCATAACTCCATATAAGTACAGTGCTTCACACTAAGAAGAGAAGAGGACAAAAGCCAAAATCACTAGATTATACATTCTTAGGGAGTAAAGTCGGTAATCATGAAAAATATTGCTTTGCTCACACTTCTTCAAAAAGTTTTAGATTTCAAGGAAAAGGTAGGTTTCCTCCAAGGAGCTCTTACCTTCTTGCCGAATGGGCCTTGAAAAGTTTATGTAAAACAGATTTTAATTCATAGTGATAATTTTTCAGTTGACCTATTTTGGCTATGTTGCTTGGGACACCAAAATAGCAACCCAATATTGTGTATACCTCTTCATCATAAAATCATTCACTTATTCAATCAGCATTTCTTAAATGGTTAGTATGTACTAGGTATCAGGACAGATGGCTGGGATGCAAAAAGTAAAGAAGACAGAATTCTTACACCGAGGAGGCTCATAACTTCCACATAACTTTTAACTGTTTTAAATTCTGTTCAAAGTCTATGTTCTAAACTCAGATATGGACCTGCCAGTTAGAAGATAATTAAAAGCTCATTTCGCTTCTCTTTAAAGAATGGTATTTCGTATATATTTGTGACTTAAAAGAAAAAAAAGTGATACTATGTTTGATATTCTTGAATTTCATTTTAAATAATCATTATTACTTACTAGAAGTTGTTTTCCATCTTCATTGAGAAGCACAGTTTCTAAGGTTTGCTGAATATAAACCCCTTCATTGAGATCATCTAGATATCTAGAAATAAAACCACAGTGCAAGTTATTAATTTATAATAGAAACTTTAACATCTTTAAAGAAGGAAAGATTTTTAAAAGATAAGGCAGGATGCCAGGCATTCTGGCCTTCCACTAGTTCATGGTCCTTCATGCTCTTAAGAATACAGTCTTATAAACTGATTTAGGGCCACAGTTTGATATTTATCGCTGTTCCAAGTAAAAGAAATATTCCCTAGTCCTGATTTGTGAATTACAAGTATCTAGGAGTAAAGGCAGAAGAACATGGAATATCTAGTCTAAAAGTTAATGAGTAATGAATTCTTAAGAAGTGTATTAAGAGACAGAAAGTTAATGATAAAGATAAGTTCTTTTTCCCACTTTTCACATATAATACACTAGGATATGATAATAAATAACAGGATTGGAAACTATATGACTTAGTTAAACTAAGTTTATTACAACACCTCATAAGAGCAGGACATTATAGTAAAACTTCAAAATTCTTAAGATGACCAGTGCCACAGGTAGGAAAAGACAACTATATACAGTATAAACTAAATTAGGAAATTTTGTAGTAACTCAGAGAGATTTACACGTTGCTATGTGTCCTTTTCCCTCTCCACTATTTACTACCAGAATAAGCTATTCCTAAATAGATCAATACCTGTTTAAGTCTACAATATATTTATGTACACTTTGAAATGCTAAATAAAATCTGGTCACAATTTCTATGTTGTTTTCACGAAATTCTTCATCTAAATCCTGTAGCTCTGGCTTAGCATCCAGTTTGCTTTCCCATAATTCTGGACCCTGAGAAAAAAAAAACACATGTGAAATGTCAATAAAAGCATACTTGTTGGTGACAATTTCTAAATAGTCTTTTAAAAATTTGTTCTTATGTTATTAGACATCCCAAACTTAAAGCAGAGCAACAGAAAGTAGTGAAGATAATAGAAGCCTAGATATAAAATCCCTTTGAGAGAAATGAATTTGAATTGGACCCAAGATTAGCATGCTTTTAAGTATGGGGCCCTTCAATGTGAAATATCAAAGTTATCTTTTAAAAATACAATTATATTGTGTTAGGGCTTTGACATAATACTTTCAACTTATTTTCAAGTTAGTAGCTAATATTAAGTTTAGTCGAAAAGCTCTTCTCTTTAGCTTTTTCCATAATTCCTTAACCTTACAGAGTTTCATGGTTCCCAGAGAAAACACGCTTTTGTAGAAAAGACAACAATAAAAATGCTATAGAGGAAGATTACCTTAAAATAGCTGAAATCAAATATGATATCTCCATATTTCTGTTGATCAGCTCTGTCTTTTAACCTGAACACAGCAGGAATAAACTCAGAGAGTCTCAAAAGTTCAGCAATGATGGCATTACCACAGGAAACAATCCTTAGGATTGCTTGGCCACAGAGGTTGTTCTCGGCTAGAAAGTCCAACATTGTGAGGCGGACCGACTACTCTGTGCCTGGACACTGGGGATGATTAACTGGCCTCAGAGCTGGTGTCTGTATATTATTAGATGAAACCAGGTGTGCAGAGAGATTGGCTCCTCCATTAAAGAACCTGTATCCCCAAAAAAAGTGTGAAAATCTCAATTTGTTTAAGGAAGCACATGTGTACACATAAGAAACACATTTTTCTCCCAAACTCACTAAAAAAATTTTAAGAAATAATGAGTTCCTTTATAGGGGAAAGGGTGTTTATCTGTCACTCTTCATATTTTCCATGTGGAGGGACTTTGCTAGATTAACACTCTTGGCCTCTTCTTCAACATGTTAGTCACTTCTCTTGAGAAAAAGATATGATACAGCTCATCTCTGTGCTAGGGAGAAGGAACCACTGGGCATGTGTGGTTCCAATGTACCCTGATTATACAAGCTATCTCCTACTATTTGATATATTAGCAAATAATTTCAAACGCTATAAAGAGAGCTCAGAGACAAATCCCTGTACATCATTTTGAGGCATTTGTCCAATTATTTCCCAGAAATGGAACTGCAAGCTTAAGGTAAGAACATGTCCAAGATTCCTTTTAAAATTACAGATGCTAGGTTCTGCAAAATTCTGTGAAGATGATTTATAAATACTAAATCAAACTGGTCCAAAAGTCTCATAAAATTCAGCACTTAGGTATCTAGCACTGTTAGCAGAATCCATTACTTGCTTCTCTTGTATTCCAATGCACTCTCTGAGGATGGTTAGATCACTTAGCATACTGAATATTATCGTTGCTTACAGCTCATTCTGAAAGTTCTTGAAGGCAAGGATTGATCTTTACCCAACCACTCCTTGCTGAATACCTCTTTGCCAGGCTGGATATGAAGATGTTTAAACATCTCACCTTCTAGTCCAGTGGTTCTCAAGCCTGGCTGCTTAAGGGAATCACCTAGCATCTTAGAGTTTCTGGTAAGTAGGTTAGAGGTAGTCCTAAGCATCTCTGTTTTTAAGAATCTCCCCGGATGATTCTGATGTGAAGCCAGGATCATTAAAAGAGTAGAGAATGACTGGTCTTATAGAAAACTGCAGCAGGCAAACAGGAAATTAACAATATTTATCTTTGTGCCCTTTGTGCTGAACTCATTCCTTGGCACTGACAAGTATAAGGAGTGCATAAATAATACTAGGGTTACAAGAGGTGATGTCTGTCCTCTCTAGCTGCCTGCTATACTGCTGGAGATGAGCCCTGAAGAAAAAAAATCAGAGAGATGAAGTGCTTCAGTGTGTCTTTACAATAAAGAAATAAGAAGTGTAACATACATTTAATTGTCAGTATGGAGCATTTATTAGGTGTTCTGTTGGGAAAGGTATTCTTATACTGGGTGATCTTTAGTAAAGTGACATCTAGGAATT | benign | 138,913 |
Is the genetic variant on chromosome 8, position 125182182, gene NSMCE2 (NSE2 (MMS21) homolog, SMC5-SMC6 complex SUMO ligase), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Seckel_syndrome_10'] | TCTATTATGTAGAGGTAGAGGATAGCTAGTCACCGTGTATAATAGCTCTTATTCTTGAGATATAAGGCACTATTATATTGCCTTTCTATCTTCTCTTTTCCAAATTGAGCTTTATTCGTTCTTTAGCCATACAGTACTTCTGTTAAATCCTTAATTACATATAACACTTGTCATTAAAGCCTCTCCATGTTTTCTAAAACTCTCTTTAATGGTGAATCCAGCACTTGGGGGTTAGCAATACAAGAAGACAGTCCGTTCCTACACTAAAATATAAATTTTACACATTTTGGTTTCATGCTTAATTCTCATTTTCTATTTAGTAATCAAAATGCATAGCAATTAAGCAAAAGAAGATTATGTCTTTTCTCTGTGACAAAAGTTAAAGCATATACTTTGCAGATAATCTTTTGAATTCATATGCATTGATAACTCAGATTCAGAGAGATTAGAAGTATATGCTACTGACTAGAACCAATATCAAGAATTTTCTGTATCTAACTTGTAGTCTTAGCATTACCTCTGACTAGTTGGATGTAGAAGATAAGTCATTTGACTTCTTTCTAAATCATTTTATTTATTTGTGAAACTGGGGGGAGGAGATCAAGATTAGATTATCTCTAAGCTGTCTTCCAGCCTAGAAATTGTACTATATACTAATAATAATGGCAGCTAATAAATTGTGGCTTTTAGTGGGTAGGTATATTTGGAGCTAATAAGATTAACTTATTTGAAATACATGTTGAGTACTACCTACTGTGTGCTGGGCACTGGTAATACCGTGATAAATCAGACATCTTTCAAGGAGTTTATTAGGGGAAAGAGGCATAAAAATAAGCAATTGAATATTCCTGGAGTGGTGGTAGAAGTCCGTCTAAAGTGTATGGGGCACAATAGAGAGTTTGGTGAGTTTTGCTTGGCAGCAGGAGCATCAGGAAAGGGCCAGTGATGAAAGGGAGCGATTATGAAGGCCTGATGGAGAGCAGCTGCAGCAAAGTGATAAGGCAGCAGCTTGACTATAGTGGCTAAAGCTGGAGGATGAGAAGGTGGAAAGAGTGGCTCCTTTTTTCCCCCAAGGAGGTGGAATATGAACAGAAAATAACTGGGGGCAGGGAGTTGGGATTATAAGAGGTTGTTTGTTTTAAAAAATGGGTGTGAAGAGCCTGTGTAAAGGTTCTTGAGAAAAGAGCCCGTTGAGAGGAAAGTTTGTTGTGAAGGAGATGAAGATGTAATAAAGAACAGGGTTGAGAATGGATAGCGAGATAGATAGATGAATAGATATGTGATAACATACACAGAGCAGAATGTTAATTGTGGCACCTAGGAAGTAGATGAATGAGTGTTCATAATATACTTCCTTCAACCTTTCTGCATATTTGAAAATTTATAATATTGGGAAATAATTTTATAATATTGGGGATGGAGGAGAACATGGGTTGAGAATTTAGCCTTGAACAGAACCAGGGGGCACTTATTCCTTGGCATGGCAGGACATTATGGAAGGTCAAGGCTAAAGCCCCAGCCACTTTTGTAAAGCAGAAGTGACTCTGACCTGCTAGGGTGGAGGGCCAAAAAAAAAAAAATGTTGAGCATGAAGGATGGAATAACCACTTGTGAGTGTGAGAGAGGACTGAGCAGACTTGGGTGGTGATGCTCAGGTCTGGTGAAGTTGCCACATTTGTGATTTTCCCTGGCAGTTATCAGAAGACAACAAGTTAGTAGGATCATTGAAGGGCCACTAGCTTACGGAAGCCAAAATAGAATGAGTAGTTGGCATGAATGAGTCCCTTCAGTATTTGCCAGCAGTCTGTCCTAGAACATGTCCCAACCTCTCTGGTGCTTTGTTCAAGAGATTGTTTTCAACCTCACTATCTTTTGCTTTGAATTATCTGAGATAAAAACAATGTTGCAAAACTTTGTTAACACTATTATTATTAACATTTAACTCAGGTAATTTTGTTGTCTCCCTTAGGTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATTCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAATGTAAGTCAACATGCTTTGCTTTGGTTCGGCTTTTTGAAATTAGGGAACTGACTTGATGAACAGCCCCAGTTAACTGATTTTATAAAGTTTGCTTATCTGCTTGGCTTGATCCTCATTCTAAGTTGCGTTTTATTGTTGTTGCAATTCTGTATTTTGTCTAATTTTTGGTTCAAATCAGCCTGCTCATTTCTGAAAGCCAACAGTTTCCACAAAGTGCTCAGAAAATTTCCCAGCAGCTAGTTATGTGTATTGTCCCATTGCTGGGGAGGGAAATTGGGAAAACAAAATAAAAGTGAAAACTATTTTATTTAAATAACAATGGTATCGTTCAAGTTTTAAACTGCTGTGCCATGCTTTAAAATAACCATACTTTGATTCTGGTTTTGCCTCTTTGGAGTAATATTAGCTATGTTTTCTCTCAGAAGACCACTTTATCTTCTCAACTATAGACCAAAATCTCCTTGATCCATTTTAGCATTGTGGTAGTATAAATTCCATGTGGTTTTTAAATTGTTGCCTTCTTAATAAACTATTACATTCAAGTTTTTTAGTGGACATAATTTTGACTTAAGAATTGGAGCAGGCAATGTAATTTTTTATACCAAAAAAATTTTTTAGACAGTATTTACCAGAAATAATATATCATTTCTGCACAGTAAAGTATATATGCCCTTTCTTTTCCCATTCTTCCATATGGTCCACATACCAATTTTATATAAATTGATTTTTTCACATTAGCATCTATTTAGTCCTGTAGTCTTTGCTTCTTTTAGGATTGAGACGCTTGTATTTCTTAAAGAAGTGAATAGTGAAGCAAATAACCTTTTCTAACTTTAGTCTCCCAACACCTTCATTTACACACACATGGAGCAGGAGTGTTGTATGATATGAGACATAAATTTACCTCGTGTCCTTATATGTGCTTAATGTAGGGATTCGTATTTTGAAATAGGCTTTCTTTTAAATATAAGCATTTTCTTTAAATTGATGCTGAGATCTCAAAAAATGACTGAGGAAGCTGCCTCACTTTTGTCTATTTTACAAATAACTTAAGTTTCACAATTTGGAATGTTTTGCAATCATGATGAGACTTTTGTTTTTACTGTAGACTTAACCAGTAAGCATTTTCCCCATATTTTAAGTTTATTTTTGTTCTTTTTTTTAACATCACAGCTCCCAACATTCTTCTAATGTATTTTTCACTCTTCCCTCAAATGATTAATAATTTCCCAAAGAGATAATAATTTGCCAATGGCTTTCTGATCTTAAAGATGCTAGTGAATTAATTGTATAGCCATGAGAATTAGACATTATTCCCCTTAAATATACATGGGCCATATAGTCTTTACCTTTTATCCATGATATTTATTACTCAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAGTATCTGGCACATGGACCTGTGATTACCAGCCTGAGGCCAACAAACCCCTCAGTTGGGATGTAGAGATTAAACAAAGCTTTTAAAAGCTCACATTATATGACCTCAAGTTTGTTTACCTGGTCATCTCATGGTAATTAGAAACTCTGATTGGCAGCTTTCGATTTCTTGATTAAAAACCTAAATAAACTGATTGTTATAGGCATTTTTTCAAAGGCATTCTCAGTGAAAAGACCGAGAACTATTCTATTTGGTGCTTAGTGAAAATATTTTGAACTAATATATGTACCAGTTATTAACATCTCTTTATTAAATGCAATAGTTTTTTGTCAAATAAATAGCAATTTTTCAATCTTGAAAAAAAAAAGATGCTAATGAATTTCAGTTTTGGTGTTGGTCTAAGTAGCCAAATGTATTTTATTTGACTATTTGGAGCCAGTACTCATAAACTGTGGCAGACTTAGCATCCAATCACAATTCCTGAGTTTTAAGTAATTTTATAATACAGGTTGAAGGACAAATATTCAAAAATATAAATTGTTCCTTCTTTTGTTATTGTTTACAAA | TCTATTATGTAGAGGTAGAGGATAGCTAGTCACCGTGTATAATAGCTCTTATTCTTGAGATATAAGGCACTATTATATTGCCTTTCTATCTTCTCTTTTCCAAATTGAGCTTTATTCGTTCTTTAGCCATACAGTACTTCTGTTAAATCCTTAATTACATATAACACTTGTCATTAAAGCCTCTCCATGTTTTCTAAAACTCTCTTTAATGGTGAATCCAGCACTTGGGGGTTAGCAATACAAGAAGACAGTCCGTTCCTACACTAAAATATAAATTTTACACATTTTGGTTTCATGCTTAATTCTCATTTTCTATTTAGTAATCAAAATGCATAGCAATTAAGCAAAAGAAGATTATGTCTTTTCTCTGTGACAAAAGTTAAAGCATATACTTTGCAGATAATCTTTTGAATTCATATGCATTGATAACTCAGATTCAGAGAGATTAGAAGTATATGCTACTGACTAGAACCAATATCAAGAATTTTCTGTATCTAACTTGTAGTCTTAGCATTACCTCTGACTAGTTGGATGTAGAAGATAAGTCATTTGACTTCTTTCTAAATCATTTTATTTATTTGTGAAACTGGGGGGAGGAGATCAAGATTAGATTATCTCTAAGCTGTCTTCCAGCCTAGAAATTGTACTATATACTAATAATAATGGCAGCTAATAAATTGTGGCTTTTAGTGGGTAGGTATATTTGGAGCTAATAAGATTAACTTATTTGAAATACATGTTGAGTACTACCTACTGTGTGCTGGGCACTGGTAATACCGTGATAAATCAGACATCTTTCAAGGAGTTTATTAGGGGAAAGAGGCATAAAAATAAGCAATTGAATATTCCTGGAGTGGTGGTAGAAGTCCGTCTAAAGTGTATGGGGCACAATAGAGAGTTTGGTGAGTTTTGCTTGGCAGCAGGAGCATCAGGAAAGGGCCAGTGATGAAAGGGAGCGATTATGAAGGCCTGATGGAGAGCAGCTGCAGCAAAGTGATAAGGCAGCAGCTTGACTATAGTGGCTAAAGCTGGAGGATGAGAAGGTGGAAAGAGTGGCTCCTTTTTTCCCCCAAGGAGGTGGAATATGAACAGAAAATAACTGGGGGCAGGGAGTTGGGATTATAAGAGGTTGTTTGTTTTAAAAAATGGGTGTGAAGAGCCTGTGTAAAGGTTCTTGAGAAAAGAGCCCGTTGAGAGGAAAGTTTGTTGTGAAGGAGATGAAGATGTAATAAAGAACAGGGTTGAGAATGGATAGCGAGATAGATAGATGAATAGATATGTGATAACATACACAGAGCAGAATGTTAATTGTGGCACCTAGGAAGTAGATGAATGAGTGTTCATAATATACTTCCTTCAACCTTTCTGCATATTTGAAAATTTATAATATTGGGAAATAATTTTATAATATTGGGGATGGAGGAGAACATGGGTTGAGAATTTAGCCTTGAACAGAACCAGGGGGCACTTATTCCTTGGCATGGCAGGACATTATGGAAGGTCAAGGCTAAAGCCCCAGCCACTTTTGTAAAGCAGAAGTGACTCTGACCTGCTAGGGTGGAGGGCCAAAAAAAAAAAAATGTTGAGCATGAAGGATGGAATAACCACTTGTGAGTGTGAGAGAGGACTGAGCAGACTTGGGTGGTGATGCTCAGGTCTGGTGAAGTTGCCACATTTGTGATTTTCCCTGGCAGTTATCAGAAGACAACAAGTTAGTAGGATCATTGAAGGGCCACTAGCTTACGGAAGCCAAAATAGAATGAGTAGTTGGCATGAATGAGTCCCTTCAGTATTTGCCAGCAGTCTGTCCTAGAACATGTCCCAACCTCTCTGGTGCTTTGTTCAAGAGATTGTTTTCAACCTCACTATCTTTTGCTTTGAATTATCTGAGATAAAAACAATGTTGCAAAACTTTGTTAACACTATTATTATTAACATTTAACTCAGGTAATTTTGTTGTCTCCCTTAGGTGAAAGAAGAACGTCCAGAAAAAATACCAGATTTAAAATTATTGGTAGAGAAGAAATTTTTGGCTTTACAGAGCAAGAATCTGATGCAGACTTTCAAAATAATGAAAAATTTGTACAGTTTAAACAACAGCTGAAAGAACTAAAGAAGCAATGTAAGTCAACATGCTTTGCTTTGGTTCGGCTTTTTGAAATTAGGGAACTGACTTGATGAACAGCCCCAGTTAACTGATTTTATAAAGTTTGCTTATCTGCTTGGCTTGATCCTCATTCTAAGTTGCGTTTTATTGTTGTTGCAATTCTGTATTTTGTCTAATTTTTGGTTCAAATCAGCCTGCTCATTTCTGAAAGCCAACAGTTTCCACAAAGTGCTCAGAAAATTTCCCAGCAGCTAGTTATGTGTATTGTCCCATTGCTGGGGAGGGAAATTGGGAAAACAAAATAAAAGTGAAAACTATTTTATTTAAATAACAATGGTATCGTTCAAGTTTTAAACTGCTGTGCCATGCTTTAAAATAACCATACTTTGATTCTGGTTTTGCCTCTTTGGAGTAATATTAGCTATGTTTTCTCTCAGAAGACCACTTTATCTTCTCAACTATAGACCAAAATCTCCTTGATCCATTTTAGCATTGTGGTAGTATAAATTCCATGTGGTTTTTAAATTGTTGCCTTCTTAATAAACTATTACATTCAAGTTTTTTAGTGGACATAATTTTGACTTAAGAATTGGAGCAGGCAATGTAATTTTTTATACCAAAAAAATTTTTTAGACAGTATTTACCAGAAATAATATATCATTTCTGCACAGTAAAGTATATATGCCCTTTCTTTTCCCATTCTTCCATATGGTCCACATACCAATTTTATATAAATTGATTTTTTCACATTAGCATCTATTTAGTCCTGTAGTCTTTGCTTCTTTTAGGATTGAGACGCTTGTATTTCTTAAAGAAGTGAATAGTGAAGCAAATAACCTTTTCTAACTTTAGTCTCCCAACACCTTCATTTACACACACATGGAGCAGGAGTGTTGTATGATATGAGACATAAATTTACCTCGTGTCCTTATATGTGCTTAATGTAGGGATTCGTATTTTGAAATAGGCTTTCTTTTAAATATAAGCATTTTCTTTAAATTGATGCTGAGATCTCAAAAAATGACTGAGGAAGCTGCCTCACTTTTGTCTATTTTACAAATAACTTAAGTTTCACAATTTGGAATGTTTTGCAATCATGATGAGACTTTTGTTTTTACTGTAGACTTAACCAGTAAGCATTTTCCCCATATTTTAAGTTTATTTTTGTTCTTTTTTTTAACATCACAGCTCCCAACATTCTTCTAATGTATTTTTCACTCTTCCCTCAAATGATTAATAATTTCCCAAAGAGATAATAATTTGCCAATGGCTTTCTGATCTTAAAGATGCTAGTGAATTAATTGTATAGCCATGAGAATTAGACATTATTCCCCTTAAATATACATGGGCCATATAGTCTTTACCTTTTATCCATGATATTTATTACTCAGTGGTGTGTGTGTGTGTGTGTGTGTGTGTGTATAGTATCTGGCACATGGACCTGTGATTACCAGCCTGAGGCCAACAAACCCCTCAGTTGGGATGTAGAGATTAAACAAAGCTTTTAAAAGCTCACATTATATGACCTCAAGTTTGTTTACCTGGTCATCTCATGGTAATTAGAAACTCTGATTGGCAGCTTTCGATTTCTTGATTAAAAACCTAAATAAACTGATTGTTATAGGCATTTTTTCAAAGGCATTCTCAGTGAAAAGACCGAGAACTATTCTATTTGGTGCTTAGTGAAAATATTTTGAACTAATATATGTACCAGTTATTAACATCTCTTTATTAAATGCAATAGTTTTTTGTCAAATAAATAGCAATTTTTCAATCTTGAAAAAAAAAAGATGCTAATGAATTTCAGTTTTGGTGTTGGTCTAAGTAGCCAAATGTATTTTATTTGACTATTTGGAGCCAGTACTCATAAACTGTGGCAGACTTAGCATCCAATCACAATTCCTGAGTTTTAAGTAATTTTATAATACAGGTTGAAGGACAAATATTCAAAAATATAAATTGTTCCTTCTTTTGTTATTGTTTACAAAN | pathogenic | 138,919 |
Evaluate the clinical significance of the mutation at chromosome 8, position 132130000 in gene KCNQ3 (potassium voltage-gated channel subfamily Q member 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | ACGGTTCTGGAAATTTTGCCTGTTTACACATCTGTAAATGTAGCTTGCTTGCATTATTTTTTTCTAGATCTGAAATGCATTGCATCAAGCAAGCATGTTTTGCAATAAAAGTGGAAATCCCCCTCCTGCTGGATAAACTGGGTGCTTTCCACGCGACACAAAGTCATATATCTTGACACAATCTCTAGGATGCATTATATAAATGGAAGAATGGTGTGGTGAGGGGAAACAAGGTCAGGGAGAGTGGGCAGACCTGACTTTTGAGTCCTGGTTCTCTATGGGACAACTGAGTGACTCTGGGTATGTCACTTTACCTGAGCCTAAGATTCTTCATTTATAAAAGGAAGTCCTTGGACTAGAAAATTTCTGTGTGCCTTCTTGACTTTAATTTCTATTTTAGATGGATATTTTGTACTTCAGTATCATGGGAAGAAATGAGAGTTGGAAATTCATTTTAAAGGCACTGAACTCAGCTCCTGCCCAGAGGGGCACTTCACTTCTGATAAATTCCATTGTCCTTGGCTACATAAATTGGAAACTATTTTAACTTTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTCCCTGCCAATTCATAACTCATCAGAAATGCTACACTTGGGATTACCACCACTTTTTACAGATAAGGAAACTGAGGCATGATACTAAGTAACATCAGGCCAAGTGAGGTCTTTTGGAGAGCTTTTAAAAGGTTTTGCCTTAAATATTTGTTTAAATTCTTTGTTTTAGAGACACAATGACTATCTCATTCCTTTCCTAATGTTAGCTCAGTAGGCAGCCCCACTGATACACAATGTGGTTTTGTTGAGAAAATTATTTCCTTGCTTTCAAAAACAGTTAATTGCTGGAGCGTTTTACACAAGAGGGCAGTGATCCTAGAAATAACTTAAACTACTTTCTCTGCTTACCAAACCAAAACCCAAACCAGCCAACCAAACAGACAAATAGCATGGCTCATCAGTAATTTCTCCCTGTACTGGTCCAATCGTGATTAAAAGTAAGAACAGCAGATAAATGTGTATCCTAGAAGAGATTAGCGGAACCATTTATATAGTGTAAAGTCATGCAAACCATGCTGAAAAGGAAGCACTTTGTTGTGGTGACATGGGGAGGAAGAGGCTGTGGGAAGCCCCTGCCTGGGTGGGGCCACCACGCACACGCATGCATTTGATGCAGCCATTGGTGTCCCCGCTGGTAAGCGTCGGGTGTAAGAGTAAGTGAACTATACAAAGTCTGTCTACATTACAAGGAGGGGTCAGCCAGTGACCTCTTTTAAATGGGCTTATTGGAAGGGGTCCATACTGAATCAGAAATCCCATCCCCTGTGGACGACAGAGGCATGGAGCCGCTGGGCGTGAAGGGGTCCGTGTCTGTGTCCGTCTCACCCTCGGCGAGGTACCGCTTCTCCCTCATCCAGCTCGACCCCCCATTGGGGCCGAACACATAATCATCTCTGTCCTGGGAGATGCTGAAGCCACTTGGAGACCTCTCCAGCTCCTCGTGGTTGACCGACATCAGGGACAGAGGTGTGTCACTGTCTCGCGTGATGCTACGTCTCTGCCGGGGGGAGATTCGGTCCGAGTAGGGGCCCTGCAGGTCAGCCTGGGAGTGGCAGCTCACTCGGGAGTCGAGAAGAGTCAAGATAGGCAGGACCGTGGGCCTCTCCACATACGTTGTTGCTGAGGAAGGAGGAGTTGCCTGAACCTTTCCAGAACTGGGTCCCCCTCGGGGCAGGTTCACAGGGTCATGTGCAAAAAACCCATAGGGGCTGACTTTGTCAATGGTCACCTGGTGGAAGCTGTAGGGTGGTTCCGGGGGGCCTGTCTCAGAATAGTTGCAGATGATGGTTTTCAAATCGGAATACCTGTTGTCCTCCTTCTTCTCTGCTTCAGCTGGCGAGGAGGTGCCCTTGGTTGGGTAATACTCCGTGACCTGCACCTGCAACCGTTCCATGTGTTGCATGTGCATATCCACGAGGAAGTCCAGCTTCTTCCCCATGTCCTGAACCTGGAAAATCAAAGGAGCTGTGAATTACCACTTTCTCTGAGGGTGGGGATCGTTGCTATTGGTTGGGAGGAAATATTCTTTTTTTTTGTTTTTTTTTTTTTTTTGAGACGAAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCATTGCAACTTCCGCCTCCCGGGTTCAAGCAGTTCTATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCAGGCTAATGTTTGTATTATTAGTAGAGACGGGGTTTCACAATCTTGGCCAGGCTGGTCTTGAACTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACCGCGCCTGACCGGAAGGAAATATTCTAATACTGTATTTACTTTTCAGAAGGGAAGATAATTCTTGCAACTCTTAATAATAGAAACAGCTAATAATTTATTTTGTGCCTCCTACTTGCAAGCCTTGCACACCAGGTATTAATGTTAATCTAGAGAAAACCTAGGCAAGGTCTTCTAGGAAGCAAAGGCGGAAAGCAGAGAGATGCTTTGAAGTGTTACAGGCCTGCTGTGTCCCCTAGAGGAGGAAGTGGCCTTGCTAATGTTGCCCGGGTCAAGGAGCAAGAGTTCTCAATTTAGGAACATTTCCTTAGACAGAAGCATGTGGACTGTTAGTCTATGTTTCTTCTACATGGTGATTTAAGCCCTAAAAATACAAGGGCAGTGGTTAGCAAGAACTGAGCTTCTCAGAACTGAAGACCCTACCTAGCAGCTTGCTCTTGCCTGCCTAAATTGGCACCTTACTTGAACTTTTGTGAATGAATATACATGAGTGTATGTGCACACGTGTGTGATGTTCTTGCTTTGACAATTCACAACTCACCAGGAAACACTGTCGTCAGGTGTATCACCCTATTTTACAGGTGAGGATATGAGCACCATGATCAGCAGATGCCAGGATAGCATCTGAGCCTCAATAATAACTGACAAGGGTCAGTTAGAAAAGTTACAATCTGACTCTGTCTTATGCACTTTATTGACTTTTGTGAATTTTATGACAATCCCCCAAGATGGATACTATTATTATCTCTATTTCACAGGCAAGAGAACAGACACTGAGAAATAGAGTGGAAATTATAAATTAAAATTTAAAATGAAAACAAAATTCTTGATACAACAAAAAGGAATAATTCAGATTTGCTTCTACCTCTCCTGCACGGGTCCCATTTAGGGTTTTGAATAAAACAAAAGGATTACTATGATCCTTGAAAAACTGGCAGTACCATTTATCTAATGTAGAGTTAGGCAGATGATGCTAGATTATGAGCTGTTTGCTGTGAAAGCAAGAGTGAGCTGCATGGTGCTGTGAGTGAGCGGGTTTCTCTTTCCACCTTGAATGGATCTCACCTGTGCCTGCCCTCCTTCCGGCCTCTTCACGCAGGCAACCCACTGCCTGGACATTGAGAAAAGGAGGACACACAACATGCAGTGGCAGGTCACTAGCATTTCCTAAGGGTTCACCATGAAATGCTTGATAATTGTAGCTATTATCAAGTGTCCACTGTGCCCGCTAATATTATGTATCAACTCAGTCCTCACAGCAACCTAATAGGGTATTATAATCCCCATACTACAGATGAGGAAAACTGAGGCTCAGAACAATTAATTAACTTGCACGTGATCACTCAGTAAATGCTGAATCAGTGATTTGATTTCCATATCTTTTTTGAATGGTAGGTAGTAGTACTCAAGTATCTTATCTCCCTTTGAAAAACAATGGTGGGGACTGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGTAGGCCGAGTTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCAGGCGCCTGTAATCTCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCAAGATCGCGCC | ACGGTTCTGGAAATTTTGCCTGTTTACACATCTGTAAATGTAGCTTGCTTGCATTATTTTTTTCTAGATCTGAAATGCATTGCATCAAGCAAGCATGTTTTGCAATAAAAGTGGAAATCCCCCTCCTGCTGGATAAACTGGGTGCTTTCCACGCGACACAAAGTCATATATCTTGACACAATCTCTAGGATGCATTATATAAATGGAAGAATGGTGTGGTGAGGGGAAACAAGGTCAGGGAGAGTGGGCAGACCTGACTTTTGAGTCCTGGTTCTCTATGGGACAACTGAGTGACTCTGGGTATGTCACTTTACCTGAGCCTAAGATTCTTCATTTATAAAAGGAAGTCCTTGGACTAGAAAATTTCTGTGTGCCTTCTTGACTTTAATTTCTATTTTAGATGGATATTTTGTACTTCAGTATCATGGGAAGAAATGAGAGTTGGAAATTCATTTTAAAGGCACTGAACTCAGCTCCTGCCCAGAGGGGCACTTCACTTCTGATAAATTCCATTGTCCTTGGCTACATAAATTGGAAACTATTTTAACTTTGTGTATGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTTTTCTCCCTGCCAATTCATAACTCATCAGAAATGCTACACTTGGGATTACCACCACTTTTTACAGATAAGGAAACTGAGGCATGATACTAAGTAACATCAGGCCAAGTGAGGTCTTTTGGAGAGCTTTTAAAAGGTTTTGCCTTAAATATTTGTTTAAATTCTTTGTTTTAGAGACACAATGACTATCTCATTCCTTTCCTAATGTTAGCTCAGTAGGCAGCCCCACTGATACACAATGTGGTTTTGTTGAGAAAATTATTTCCTTGCTTTCAAAAACAGTTAATTGCTGGAGCGTTTTACACAAGAGGGCAGTGATCCTAGAAATAACTTAAACTACTTTCTCTGCTTACCAAACCAAAACCCAAACCAGCCAACCAAACAGACAAATAGCATGGCTCATCAGTAATTTCTCCCTGTACTGGTCCAATCGTGATTAAAAGTAAGAACAGCAGATAAATGTGTATCCTAGAAGAGATTAGCGGAACCATTTATATAGTGTAAAGTCATGCAAACCATGCTGAAAAGGAAGCACTTTGTTGTGGTGACATGGGGAGGAAGAGGCTGTGGGAAGCCCCTGCCTGGGTGGGGCCACCACGCACACGCATGCATTTGATGCAGCCATTGGTGTCCCCGCTGGTAAGCGTCGGGTGTAAGAGTAAGTGAACTATACAAAGTCTGTCTACATTACAAGGAGGGGTCAGCCAGTGACCTCTTTTAAATGGGCTTATTGGAAGGGGTCCATACTGAATCAGAAATCCCATCCCCTGTGGACGACAGAGGCATGGAGCCGCTGGGCGTGAAGGGGTCCGTGTCTGTGTCCGTCTCACCCTCGGCGAGGTACCGCTTCTCCCTCATCCAGCTCGACCCCCCATTGGGGCCGAACACATAATCATCTCTGTCCTGGGAGATGCTGAAGCCACTTGGAGACCTCTCCAGCTCCTCGTGGTTGACCGACATCAGGGACAGAGGTGTGTCACTGTCTCGCGTGATGCTACGTCTCTGCCGGGGGGAGATTCGGTCCGAGTAGGGGCCCTGCAGGTCAGCCTGGGAGTGGCAGCTCACTCGGGAGTCGAGAAGAGTCAAGATAGGCAGGACCGTGGGCCTCTCCACATACGTTGTTGCTGAGGAAGGAGGAGTTGCCTGAACCTTTCCAGAACTGGGTCCCCCTCGGGGCAGGTTCACAGGGTCATGTGCAAAAAACCCATAGGGGCTGACTTTGTCAATGGTCACCTGGTGGAAGCTGTAGGGTGGTTCCGGGGGGCCTGTCTCAGAATAGTTGCAGATGATGGTTTTCAAATCGGAATACCTGTTGTCCTCCTTCTTCTCTGCTTCAGCTGGCGAGGAGGTGCCCTTGGTTGGGTAATACTCCGTGACCTGCACCTGCAACCGTTCCATGTGTTGCATGTGCATATCCACGAGGAAGTCCAGCTTCTTCCCCATGTCCTGAACCTGGAAAAATCAAAGGAGCTGTGAATTACCACTTTCTCTGAGGGTGGGGATCGTTGCTATTGGTTGGGAGGAAATATTCTTTTTTTTTGTTTTTTTTTTTTTTTTGAGACGAAGTCTCAGTCTGTCACCCAGGCTGGAGTGCAGTGGCGCGATCTGGGCTCATTGCAACTTCCGCCTCCCGGGTTCAAGCAGTTCTATGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCACCCGCCACCATGCCAGGCTAATGTTTGTATTATTAGTAGAGACGGGGTTTCACAATCTTGGCCAGGCTGGTCTTGAACTGACCTCGTGATCCACCTGCCTTGGCCTCCCAAAATGCTGGGATTACAGGCATGAACCACCGCGCCTGACCGGAAGGAAATATTCTAATACTGTATTTACTTTTCAGAAGGGAAGATAATTCTTGCAACTCTTAATAATAGAAACAGCTAATAATTTATTTTGTGCCTCCTACTTGCAAGCCTTGCACACCAGGTATTAATGTTAATCTAGAGAAAACCTAGGCAAGGTCTTCTAGGAAGCAAAGGCGGAAAGCAGAGAGATGCTTTGAAGTGTTACAGGCCTGCTGTGTCCCCTAGAGGAGGAAGTGGCCTTGCTAATGTTGCCCGGGTCAAGGAGCAAGAGTTCTCAATTTAGGAACATTTCCTTAGACAGAAGCATGTGGACTGTTAGTCTATGTTTCTTCTACATGGTGATTTAAGCCCTAAAAATACAAGGGCAGTGGTTAGCAAGAACTGAGCTTCTCAGAACTGAAGACCCTACCTAGCAGCTTGCTCTTGCCTGCCTAAATTGGCACCTTACTTGAACTTTTGTGAATGAATATACATGAGTGTATGTGCACACGTGTGTGATGTTCTTGCTTTGACAATTCACAACTCACCAGGAAACACTGTCGTCAGGTGTATCACCCTATTTTACAGGTGAGGATATGAGCACCATGATCAGCAGATGCCAGGATAGCATCTGAGCCTCAATAATAACTGACAAGGGTCAGTTAGAAAAGTTACAATCTGACTCTGTCTTATGCACTTTATTGACTTTTGTGAATTTTATGACAATCCCCCAAGATGGATACTATTATTATCTCTATTTCACAGGCAAGAGAACAGACACTGAGAAATAGAGTGGAAATTATAAATTAAAATTTAAAATGAAAACAAAATTCTTGATACAACAAAAAGGAATAATTCAGATTTGCTTCTACCTCTCCTGCACGGGTCCCATTTAGGGTTTTGAATAAAACAAAAGGATTACTATGATCCTTGAAAAACTGGCAGTACCATTTATCTAATGTAGAGTTAGGCAGATGATGCTAGATTATGAGCTGTTTGCTGTGAAAGCAAGAGTGAGCTGCATGGTGCTGTGAGTGAGCGGGTTTCTCTTTCCACCTTGAATGGATCTCACCTGTGCCTGCCCTCCTTCCGGCCTCTTCACGCAGGCAACCCACTGCCTGGACATTGAGAAAAGGAGGACACACAACATGCAGTGGCAGGTCACTAGCATTTCCTAAGGGTTCACCATGAAATGCTTGATAATTGTAGCTATTATCAAGTGTCCACTGTGCCCGCTAATATTATGTATCAACTCAGTCCTCACAGCAACCTAATAGGGTATTATAATCCCCATACTACAGATGAGGAAAACTGAGGCTCAGAACAATTAATTAACTTGCACGTGATCACTCAGTAAATGCTGAATCAGTGATTTGATTTCCATATCTTTTTTGAATGGTAGGTAGTAGTACTCAAGTATCTTATCTCCCTTTGAAAAACAATGGTGGGGACTGGGCGCAGTGGCTCATGTCTGTAATCCCAGCACTTTGGTAGGCCGAGTTGGGCAGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAAACCCCATCTCTACTAAAAATACAAAAATTAGCTGGGCATGATGGCAGGCGCCTGTAATCTCAGCTCCTCAGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGTCAAGATCGCGC | benign | 139,006 |
Is chromosome 8, position 132615074, gene DNAAF11 (dynein axonemal assembly factor 11) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_19'] | AGGATGAAACAGTGATTTGTCTGAAAAACAGTAGAAACGGCAGCTTGGGAAGCTGGAGGAGCAGAGGATATGAAGCTAGCTGGAGAAGAGCTGGGATCTTTGTAAAGGCAGATAACCTGGCAGCAAGCAGGCAGAAGAATTGACAGGAATTCTGTGGAGAGGCACACAGCTGATCTGAGACAGCTTGGTGTGGAGAGGAAGGGACCACACTAAGGCTAGCCCTGGTACACAAGAGCCAAGGTGGAAACAACCCAAATGCCTACCATCTGGTGAACGGATAAACAAAATGTGGTACATCTATGCAATGGAATAGTATTTGGCCATAAAAAGGAAGGAAATTCTGACACGTGCAACAACATGGATGAGGCTTGAAGACATTATGGTAAGTGAAAGAAGCCAGACACAAAGGCCACATGTTGTATGATTCTATTAATATGAAATATCCCAAATAGGCAAATCTATAGAGACAGAAAACAGATTAGTGGTTGCCATGAAGACAGAGAATGGGCAGTGACTGCTTAAGGACCATGGGGTTTCCTTCTGGGGTGATAAACATTTTCTGGAACTAGACAATGGTAATGGTTGTACAATATTGTGAATTTATTAAATGCCATGGTGTTGTCCATTTTGAAATGGTTGAAATGGTCGATTTTAAGTTATGTGTATTTTACCACAATCAAAACAGCAAAGTTGGTTGAAGTCCTGAGGGCTGATGTTCTGGCTCCTTCGGTCCCTGTTCACTTTGACAAGACTCACTCTTGGAAAAGTTACCCCCTCTTGGGTAATAATCCCTCCAACCTCCCAGGGTTACTGAGAGATTAAATAAAATGGGGCACATCAAAAGCCATTAAAAAGAGAAAGGCATTTATTATAATTCATGCATGTAAACATTCATCCATTCATTCATGCATGTCAATGTCATACTCCCATCATCAGTATTTGTTCATTCATTCATTCATTCATTCTTGTGTTTATTGAGCACCTAACAGGTGCCAGGTATTGTTTTAGGTGTGGAGATGTAGAGAGGAAAGAACAAACAAAACAAGCTTCCTGCTCTGACCACAAACTTTTAAGAATACAAGTAAATTTACACTTTGTCAGCAGGAAGTCAAAAAGTAGAAAGAGTGGAAGGAAGTGCTGGGCAGGGGTAGGTACTGCTTTATGTCAGATGGTGGGGCAGAGAGGCCCCTCTAATGAGGTGACATCTGAGCAGAGGCCTGAAGGACACGAGGCAGCAAGCCACAAGGACACCGAGGGTGATACAGGCAGAGGGAAGCACAGGCAAGCAGCCTCTGAGATGGTGCCAGGGGACACTGAGGTCATCAGAAGGATGTATCGGCACAGTGAACCAGGGCCTAAAATCTTCAGGGAATGAGGCAGAGTGACCTGCTGCCTTTAGATGCTTCCACAAAGAAGAGAAGAAGGGGATACAGGCTGAAGGTTTGAGTGTCAAAGCCATGGAGCTTTAGGGAGGAGAAAAGGACAATAGTTTGGGTGTGGTGATGAGGGCAGGCAGGAGGTCTGTGCCACTCCTACCCATGGGTGAGAAAACAGGCAGGATGTGAGAGGGCAGCAGGGAAGAAGGGTCCACTGGTGACAGGGGCTGCTAGGTGTTCCCCCAGGCCTCTGAGATGGGACTGAGGGAGGGGAGCCGATCACCTGATACCTACTACTATAGGAAGGCATTTTAGACAAAAACAGAGGACTATGCCAGCAAAGACAGAGTGGGGTCCTTGTAGTATCAGCATCAGAAAACAGCACAGGTCTGAGAATTATTTAAACTCTGCCTTAGATATTCCTGAGTTCATATCCATGAAATTGTGGCTTTATTTACCTTTCCTTTCATTTTCATGCTTTTAAAAATTATAGTAACTTCTCTGTCTTAACAAATAAGCTTCATTTAACTATAGGTCTAAGTCAATTCCATTTCAATTTTTTCAAACTAAAAAATTACTACTGAGAATGAAAACAGACAGAAATGTCATAAATAAATACGTAGAAAATGTCTTTACCTATAGACAGCAAGGTCCAGGATGATCTGCTTTTCGTTATCTTTCAAAGAGAAGTCAATTCTAAGAATAACACATTTGGTGGGAAAAAAGAGATGTCTTTAGGATACTGTATAGAAAACCCCATCATAAATTCATAAGCAGATTAGATAATAATTCTATAATAATATCCAAAGACAACTTATTTTAGTGGTTGAACAATCAAATATCAACGGTAATTTTAACATTTCAGCAAAACCTACAACATATTAATAAATTATTTGTGTTTACAGTGTTTAAATGTGAGAATCTTAAGGTAAATTACACACAAAAAATTAGCTTTAGTGCAGAGATAGAGACATCTGGTGGCTAAAGTTTTCTTTTCCATCTCATATGAGTTTGCCAGAAGCAAACTAAAACATTGGAATTATTTATGGAGAACTAAAGGTTGCTTTTGCCTCCCCTTTATCCTGCATTCTATTCCTTAAGTTTTAGAGTCCTGTCTTCCTTCTTTTTTCTTGCTATCTTTTTTCTTCTCCTTTCATCGCTGACCTTTCCATTGCCCTGAAAAAGGCTGAGACACTGCTCATTATCTATTACCTCTGTTTTATAGATGAAGAAACAGAGGTTCAAAGAGGTTGGCATAGCTGAATTATAATAAATGCCTTTACACTTTCTCTGCACGAGCCTGGCTAGGCAGGATTTCAAAGCTCCACCATCTTTCAACTGTACCCCGAGGTTGAGTCCTAGGTCTAGCTTCCACACTGAACAACATACTATCAGAATTGCCTGGTCAATTTTCTTTTGAACATTTCAGTTACTGTATTACTCTATAAAACATACAACTCAACAATATTAAAGAACATAAGCTAAACTGTTTAGGAAAATGTGAAGTTAGCGATAGATTTGGCTGTTCGCCCCATTTCTGCTTGTGGCAGGCACTGTCTCATTGCTTTCAATAGTCAGGCCTGTGGGACTTCTTCAGTGTCTCAAATGACCCATGCATTTGTAGAACCTCATCTCAGGAGCCTTTTTATATGCTCCTGCTCTGCCTCGATTGCTTATTACTTGTAAAGTAATTTCAGAGAATTTTCCTATGGCAGAGATTGCTATTTAGTTGCTATCTGCTTCCCCTTTATTCCTAGTGACAGGAACCATGGTTTTAACTAGGGGCATGGCTATGTACAATAAAGGTTGCATTCTCTGGCCTCCCTTGCAGGTGGGTGAGGTCATGTGAGGGACAGTCGTTGTATGGCACTTTCTAAGAATGTCCCTTAAGAAAAGGAGCGTGTATCCTTTCTTCCCTTTTTTCTTCTTTATTTAGCTGAGTAGAACAGAATGTAGGAGGCCAACAGATAAACCATGGAGACTGCTTAATAAGCAATTGCAACTGTCCAAGCAAGAGTTAGTGTCCACTAGTGGTGGTGGTGGGGTCAGTGAGATGTGGCTGGATTCTGATAATATCGAAGGAAGAGTTCATAGGACGCACTGATAAAATGAGGGAGAGAAGAATTAAGGGAGAATCCAAGGTTTCTGGTCTTAGCCAAGGGGTGAATGTGTGTTACTGAGATGGAGAACACAGGGACACAAGCACACGATGCTGGAGAGTGTTAGTGAGGCTGGAAATCAGGGGTTCTCTTTTAGTCGTCATAAGTGTGCAATGACTCTCTTATATCCACCCAGTGATGTCAAACAGCTAATTGTTAGAAACAAATTTTCAGTGCCACAAAGTGAAACCAGCACTCAGGCAAAAGTTTTCTCAGCAAGGCAATATACTTCTATAGAAGGGCACTTCCTGCATGCAAGGCAGAGGCAAGGGAGAGTGAGCAAAACAAAGGAGAGCAGGAGTTTTTTATCCCTAACACAGACCCTATTCCTATGTCCTTCCACTGCAGGCTGGGGTTGGACCGCTCAATCTAGGCTAATTCTGATTGGCTACTGTTGACATCATCAAAGGAGGCAACAGTGGGCATTTCACAGGAAGGAAAGGTACGGTATATCTTGGGGTGTTTGGGCACAGTAGAGATAGGGAGGGCTGACAGATGAATGGGTACAATTATCTTTTAGAATAGAACAAAGAACCAGGAACCGAAACCCTCTGAAGAGGA | AGGATGAAACAGTGATTTGTCTGAAAAACAGTAGAAACGGCAGCTTGGGAAGCTGGAGGAGCAGAGGATATGAAGCTAGCTGGAGAAGAGCTGGGATCTTTGTAAAGGCAGATAACCTGGCAGCAAGCAGGCAGAAGAATTGACAGGAATTCTGTGGAGAGGCACACAGCTGATCTGAGACAGCTTGGTGTGGAGAGGAAGGGACCACACTAAGGCTAGCCCTGGTACACAAGAGCCAAGGTGGAAACAACCCAAATGCCTACCATCTGGTGAACGGATAAACAAAATGTGGTACATCTATGCAATGGAATAGTATTTGGCCATAAAAAGGAAGGAAATTCTGACACGTGCAACAACATGGATGAGGCTTGAAGACATTATGGTAAGTGAAAGAAGCCAGACACAAAGGCCACATGTTGTATGATTCTATTAATATGAAATATCCCAAATAGGCAAATCTATAGAGACAGAAAACAGATTAGTGGTTGCCATGAAGACAGAGAATGGGCAGTGACTGCTTAAGGACCATGGGGTTTCCTTCTGGGGTGATAAACATTTTCTGGAACTAGACAATGGTAATGGTTGTACAATATTGTGAATTTATTAAATGCCATGGTGTTGTCCATTTTGAAATGGTTGAAATGGTCGATTTTAAGTTATGTGTATTTTACCACAATCAAAACAGCAAAGTTGGTTGAAGTCCTGAGGGCTGATGTTCTGGCTCCTTCGGTCCCTGTTCACTTTGACAAGACTCACTCTTGGAAAAGTTACCCCCTCTTGGGTAATAATCCCTCCAACCTCCCAGGGTTACTGAGAGATTAAATAAAATGGGGCACATCAAAAGCCATTAAAAAGAGAAAGGCATTTATTATAATTCATGCATGTAAACATTCATCCATTCATTCATGCATGTCAATGTCATACTCCCATCATCAGTATTTGTTCATTCATTCATTCATTCATTCTTGTGTTTATTGAGCACCTAACAGGTGCCAGGTATTGTTTTAGGTGTGGAGATGTAGAGAGGAAAGAACAAACAAAACAAGCTTCCTGCTCTGACCACAAACTTTTAAGAATACAAGTAAATTTACACTTTGTCAGCAGGAAGTCAAAAAGTAGAAAGAGTGGAAGGAAGTGCTGGGCAGGGGTAGGTACTGCTTTATGTCAGATGGTGGGGCAGAGAGGCCCCTCTAATGAGGTGACATCTGAGCAGAGGCCTGAAGGACACGAGGCAGCAAGCCACAAGGACACCGAGGGTGATACAGGCAGAGGGAAGCACAGGCAAGCAGCCTCTGAGATGGTGCCAGGGGACACTGAGGTCATCAGAAGGATGTATCGGCACAGTGAACCAGGGCCTAAAATCTTCAGGGAATGAGGCAGAGTGACCTGCTGCCTTTAGATGCTTCCACAAAGAAGAGAAGAAGGGGATACAGGCTGAAGGTTTGAGTGTCAAAGCCATGGAGCTTTAGGGAGGAGAAAAGGACAATAGTTTGGGTGTGGTGATGAGGGCAGGCAGGAGGTCTGTGCCACTCCTACCCATGGGTGAGAAAACAGGCAGGATGTGAGAGGGCAGCAGGGAAGAAGGGTCCACTGGTGACAGGGGCTGCTAGGTGTTCCCCCAGGCCTCTGAGATGGGACTGAGGGAGGGGAGCCGATCACCTGATACCTACTACTATAGGAAGGCATTTTAGACAAAAACAGAGGACTATGCCAGCAAAGACAGAGTGGGGTCCTTGTAGTATCAGCATCAGAAAACAGCACAGGTCTGAGAATTATTTAAACTCTGCCTTAGATATTCCTGAGTTCATATCCATGAAATTGTGGCTTTATTTACCTTTCCTTTCATTTTCATGCTTTTAAAAATTATAGTAACTTCTCTGTCTTAACAAATAAGCTTCATTTAACTATAGGTCTAAGTCAATTCCATTTCAATTTTTTCAAACTAAAAAATTACTACTGAGAATGAAAACAGACAGAAATGTCATAAATAAATACGTAGAAAATGTCTTTACCTATAGACAGCAAGGTCCAGGATGATCTGCTTTTCGTTCTTTCAAAGAGAAGTCAATTCTAAGAATAACACATTTGGTGGGAAAAAAGAGATGTCTTTAGGATACTGTATAGAAAACCCCATCATAAATTCATAAGCAGATTAGATAATAATTCTATAATAATATCCAAAGACAACTTATTTTAGTGGTTGAACAATCAAATATCAACGGTAATTTTAACATTTCAGCAAAACCTACAACATATTAATAAATTATTTGTGTTTACAGTGTTTAAATGTGAGAATCTTAAGGTAAATTACACACAAAAAATTAGCTTTAGTGCAGAGATAGAGACATCTGGTGGCTAAAGTTTTCTTTTCCATCTCATATGAGTTTGCCAGAAGCAAACTAAAACATTGGAATTATTTATGGAGAACTAAAGGTTGCTTTTGCCTCCCCTTTATCCTGCATTCTATTCCTTAAGTTTTAGAGTCCTGTCTTCCTTCTTTTTTCTTGCTATCTTTTTTCTTCTCCTTTCATCGCTGACCTTTCCATTGCCCTGAAAAAGGCTGAGACACTGCTCATTATCTATTACCTCTGTTTTATAGATGAAGAAACAGAGGTTCAAAGAGGTTGGCATAGCTGAATTATAATAAATGCCTTTACACTTTCTCTGCACGAGCCTGGCTAGGCAGGATTTCAAAGCTCCACCATCTTTCAACTGTACCCCGAGGTTGAGTCCTAGGTCTAGCTTCCACACTGAACAACATACTATCAGAATTGCCTGGTCAATTTTCTTTTGAACATTTCAGTTACTGTATTACTCTATAAAACATACAACTCAACAATATTAAAGAACATAAGCTAAACTGTTTAGGAAAATGTGAAGTTAGCGATAGATTTGGCTGTTCGCCCCATTTCTGCTTGTGGCAGGCACTGTCTCATTGCTTTCAATAGTCAGGCCTGTGGGACTTCTTCAGTGTCTCAAATGACCCATGCATTTGTAGAACCTCATCTCAGGAGCCTTTTTATATGCTCCTGCTCTGCCTCGATTGCTTATTACTTGTAAAGTAATTTCAGAGAATTTTCCTATGGCAGAGATTGCTATTTAGTTGCTATCTGCTTCCCCTTTATTCCTAGTGACAGGAACCATGGTTTTAACTAGGGGCATGGCTATGTACAATAAAGGTTGCATTCTCTGGCCTCCCTTGCAGGTGGGTGAGGTCATGTGAGGGACAGTCGTTGTATGGCACTTTCTAAGAATGTCCCTTAAGAAAAGGAGCGTGTATCCTTTCTTCCCTTTTTTCTTCTTTATTTAGCTGAGTAGAACAGAATGTAGGAGGCCAACAGATAAACCATGGAGACTGCTTAATAAGCAATTGCAACTGTCCAAGCAAGAGTTAGTGTCCACTAGTGGTGGTGGTGGGGTCAGTGAGATGTGGCTGGATTCTGATAATATCGAAGGAAGAGTTCATAGGACGCACTGATAAAATGAGGGAGAGAAGAATTAAGGGAGAATCCAAGGTTTCTGGTCTTAGCCAAGGGGTGAATGTGTGTTACTGAGATGGAGAACACAGGGACACAAGCACACGATGCTGGAGAGTGTTAGTGAGGCTGGAAATCAGGGGTTCTCTTTTAGTCGTCATAAGTGTGCAATGACTCTCTTATATCCACCCAGTGATGTCAAACAGCTAATTGTTAGAAACAAATTTTCAGTGCCACAAAGTGAAACCAGCACTCAGGCAAAAGTTTTCTCAGCAAGGCAATATACTTCTATAGAAGGGCACTTCCTGCATGCAAGGCAGAGGCAAGGGAGAGTGAGCAAAACAAAGGAGAGCAGGAGTTTTTTATCCCTAACACAGACCCTATTCCTATGTCCTTCCACTGCAGGCTGGGGTTGGACCGCTCAATCTAGGCTAATTCTGATTGGCTACTGTTGACATCATCAAAGGAGGCAACAGTGGGCATTTCACAGGAAGGAAAGGTACGGTATATCTTGGGGTGTTTGGGCACAGTAGAGATAGGGAGGGCTGACAGATGAATGGGTACAATTATCTTTTAGAATAGAACAAAGAACCAGGAACCGAAACCCTCTGAAGAGGANN | pathogenic | 139,141 |
Mutation at chromosome 8, position 132632762, within DNAAF11 (dynein axonemal assembly factor 11): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['DNAAF11-related_disorder', 'Kartagener_syndrome', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_19'] | GTAGGGGACTTGAATAGAGGATACCTGAATAACCAATAAACATATAAAAGATATTTAAAATATTCAAATTCACTAGTAACTACAGAAATGCAAATTAATTTTTTTAAAAATAGAGGATACTATATACTACACAACACACTTGATTGGCCAATATTTTTAAATATCATATTATCCAGTATTGGCAAAGACTGAAAACTCTTGTATATTGTTGATATATGAGTATAAATTATCACAACTACTCTAGAAAACAATTTGGCAATATGTAAAAAGTTGAAAAGATGTCATAATTGTAGCAATGCCATTGCTAAATACCCTGGAGAAACTTTCATACCTGAACAAGGAGACAAGGGCAACATTGCTTGAATATCTCAACAAATGTTCAACATGGATTCAATAAATATTTATTGGGCATCTTCTGTTGTGCCAGGCACCAGAGATACAGCCCTGGCAAAGAGAGACCATGATGCTACTTTCAGGAGATTCTATTCCTGTGAGAATAGGAAATGGGAATAGGGAAAACAACGTGCATGGCCATCCAAAGAGGGATGGCTGTGTCCAGGCTGACCAGCTGGCACCACTAGGAAGACCACATGTGTTGTTAGAGCCGCTGCACATTCTGATGGGTCAGGGCAAATGAAACACTGGTCATTAACTACTTTGAATATTACCTCTGGGATAAATTGTAATTTATTCATCCAACAGGATATTATTCTATACTTACAATGAATTAGTTTTGCATGTCTTCATGTGCGTAAATCTCAAAAACATAATGTTGCATGAAAAGCAAAGCTATAGAAAGGTATCATTCATGCTAAACACACATACTCAAACTACTATTGTTTAAGGAGGCATACTTGTGAAATAAGGGTATTAAAAATATGGATGGGATCAACATATATCAAACACGCACCAGCTTCAGGATAGCAGACGCCACTGGGATGAAGAGAGGCATGGGATGAAGGGGAAGTCTTTAAGGAGTGTCTGCTCTCTTAATGATATTTTATTTCTTATTTAAAAAAAGATCCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTTGGGGGAGTGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGAAGAATTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACTCTAAAACTTAAAGTATAATTTAAAAAAAAGTAAAAAAAAAAAAGATCCAAAGCAAACATACAAACTATTGTCATTTATTAAATCTAGGTGGTAGAACTACAAGCTGCCTATATAACTATTTTCAAACATTTATGTATGTCTGCAATATTTTATAATTATTATTTTCTCAATTTTAAGGGATTCTGTTATCTAAATACTTAATACTTTCACTGTATGGAATCAAATCAACTGACTATAGTTGCAATTCACTTAAAATAAACAAACATGAAAAATTTAATTTTTAAAAAACCAATTAGAGAGTTATTAATCACATTAAAAATGTATTCAGTATTTTTCTGAAATCTATTCCAATTCAGAAAATAGAATGTTTTATGATGCAATTAGAATTATTCAAATTATAATGTGATTTGTATTTAACTTTTCTAAAATATTCCTAGTTCGTAAATCAAAGTACACCTGTTAATTCATCTTTTCTGTACACATTTTACGGATTTCTCTGAGAATAATTTTAGATGCAAATTAAAGTTGCTAGTTTAAAAAGGAATTTTTCCCCCAAGGAAAGAAAGCCTTACAGAATTGTCACAAGCAATGGGATGCTCATATTCTTCCATCCAAAATTCACATCATATTTCATTCTTCAAATTAATCTGGAATATAAGTGTACTGCAAACAACTTGGAAAGAGAATACAGTTTGCTGCTTTTAACAAAAGTTAACTAGAAAGTAAACTAATAATTTACATACAGAGTAGCATTGATGTCTGTGTACCAACGTCCATCAAAGCCTGCGTTACTTCTCTTGTCTTCATTTTTATCCTCTTCTTGGTGTTTCCTCTGAGCCTCTTCCTTGAGTTTGGCTCGTTTAAGACAGTGATCTTTTTCCTGCTCTCTGATTTGTGGTTCAATTACTGAATAGTCCTGCAATGCCTTAATCCTTTCTGAAGGCTCTATTTCTTTACCATCCAACCACTTAAAGAAAAACAATAAATATAGTACAATTGTTCAAAAGTAGCAGTGTGAATCAGCCCCAGGTTGATTTTGATTAGAAATAATAATATACCCGATAGTGATAGAGAATTAAAACAATATAATTAATGGGAAATATCAGAACATTGTTCTAAATTAATGTATATTTCATATAATTTACACAGTTTAAAAAATACCTTTACTAGTAATAATAATAATTAGGTCTGTTAAAACTGATAATTAATACAAGCTCTCAAAATATTTTCTATTAATTTTATAATTGCTCACTATGTCAAAAATGTCAATGCTTAAGTCAAATCATAGCTTCAAAGTACAACAATGGCACTTCCCAAAAGCTCTCTACAGAAAAAAAAGGCCTTGAATATTACACATGATTGGGCTCTAATACAAATGAGCCCATGTTTCACCCTTAACAACAAGACAAACAGATAGGCTATTGTTACAGCATTGTTTACATCTGATACTTCAATTATGATTTTCCAAAGTAAAATATTAAAATAAAAGCATCAACTAAAGTTCTAAAATGTTAAAGCTAACAGTTTAAAGATACCTATTTATCTACCCTGCCTTATTCTGCAAAATGAGGTGAGGTATTTAGGAAGGGGTGGTTGGAAGATAATGGTTCCCCAAGAATGTCCATGTTCTAATCTCCATGAATGTTACCTTACATGGCAAAAGGGGCTTTACAGGTGTGATTAGGTTAAGGATCTTGAATGATCAGGATGATTCTTATAAGGACCACAGAGGTCCTTATAAGTAAAAGAGAAAGACATGAGTGTCAGAGTTAGGGAGAGAGGTAAAGTTGGCACACTGATGTCTTTGGAGATGGAGGAAGAGGCCATGAGCCTAAAAATGCAGGTATCCTCTAGAAGCTGAAAGGGGCAAAGTAAGGGATTCTCTCCTAGAGCCTGAAGAAAGAATAACCCTGCCAACACCTTCATTTTAGCCCAGTGAAACCATTTCAGGCTTTTGATCTCCAGAATCATAAGGTGATACATTTGCATTGTTTTAAGTCACTAAGTTTGTCTCAATTTGTTACAGCAGCAATAAGAAACATAAAAAAGGAAAAAAAAATACACACAAAGATTTAGTCAAATATAAATTAAAAAATTATTAGAATCAGCTGAATTATAAGTCAAAATTATGTAGAGATTTGGAAAAAAGATAATGCCACATATGCTCTGGTCATAAGGACTCATATGGTTGCTATAGATGGGCTGCAGATTTGGTTCTGAGCTTCTTGGCAGCCAAAGCGAAATAGAAAAACATAACTAGTTACACAATTTTCATGGTCTTTAAGGAAAAAATAAAGTTTGTAGCTTTCCTCTAACATGCAGCTCTAAAACACATTTCTAGCACAGAGTTTCATAATGGAGATATTGAGAGATGTCAAGCATTGTTTCTGTAGAAATATGGCCATACAGTCACAGGTTTCATAAGGCTGTTTCTTGTAGTATCCTTCAATAAAGGTATCTTCATACCATTACTTATGAGACCATAATGATAAATTCAATGCAATAAAACCTATTATTTAAGGCATTAAGTAATTGTGGTCCACATACTTAATTTGATCTAATTTAATACAGGATTGGGATCAAATCAATTTGGAAATTTTTGGATAAATGAAATTTACTTATTTTGTAAGTATATATAAGTAAATACACTGATATAAATATATGAATCAACATAAAAGTAAATATATTTATATATAACTAATACTATATAAATAAAGCACTTTCATAAATTTCTGTTAAGTCATCCAGTTTGTGGCACTTTGTTATATTAATTTATATAGTATAATTTATATATAAATATATATTAACATAAA | GTAGGGGACTTGAATAGAGGATACCTGAATAACCAATAAACATATAAAAGATATTTAAAATATTCAAATTCACTAGTAACTACAGAAATGCAAATTAATTTTTTTAAAAATAGAGGATACTATATACTACACAACACACTTGATTGGCCAATATTTTTAAATATCATATTATCCAGTATTGGCAAAGACTGAAAACTCTTGTATATTGTTGATATATGAGTATAAATTATCACAACTACTCTAGAAAACAATTTGGCAATATGTAAAAAGTTGAAAAGATGTCATAATTGTAGCAATGCCATTGCTAAATACCCTGGAGAAACTTTCATACCTGAACAAGGAGACAAGGGCAACATTGCTTGAATATCTCAACAAATGTTCAACATGGATTCAATAAATATTTATTGGGCATCTTCTGTTGTGCCAGGCACCAGAGATACAGCCCTGGCAAAGAGAGACCATGATGCTACTTTCAGGAGATTCTATTCCTGTGAGAATAGGAAATGGGAATAGGGAAAACAACGTGCATGGCCATCCAAAGAGGGATGGCTGTGTCCAGGCTGACCAGCTGGCACCACTAGGAAGACCACATGTGTTGTTAGAGCCGCTGCACATTCTGATGGGTCAGGGCAAATGAAACACTGGTCATTAACTACTTTGAATATTACCTCTGGGATAAATTGTAATTTATTCATCCAACAGGATATTATTCTATACTTACAATGAATTAGTTTTGCATGTCTTCATGTGCGTAAATCTCAAAAACATAATGTTGCATGAAAAGCAAAGCTATAGAAAGGTATCATTCATGCTAAACACACATACTCAAACTACTATTGTTTAAGGAGGCATACTTGTGAAATAAGGGTATTAAAAATATGGATGGGATCAACATATATCAAACACGCACCAGCTTCAGGATAGCAGACGCCACTGGGATGAAGAGAGGCATGGGATGAAGGGGAAGTCTTTAAGGAGTGTCTGCTCTCTTAATGATATTTTATTTCTTATTTAAAAAAAGATCCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTTGGGGGAGTGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGAAGAATTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACTCTAAAACTTAAAGTATAATTTAAAAAAAAGTAAAAAAAAAAAAGATCCAAAGCAAACATACAAACTATTGTCATTTATTAAATCTAGGTGGTAGAACTACAAGCTGCCTATATAACTATTTTCAAACATTTATGTATGTCTGCAATATTTTATAATTATTATTTTCTCAATTTTAAGGGATTCTGTTATCTAAATACTTAATACTTTCACTGTATGGAATCAAATCAACTGACTATAGTTGCAATTCACTTAAAATAAACAAACATGAAAAATTTAATTTTTAAAAAACCAATTAGAGAGTTATTAATCACATTAAAAATGTATTCAGTATTTTTCTGAAATCTATTCCAATTCAGAAAATAGAATGTTTTATGATGCAATTAGAATTATTCAAATTATAATGTGATTTGTATTTAACTTTTCTAAAATATTCCTAGTTCGTAAATCAAAGTACACCTGTTAATTCATCTTTTCTGTACACATTTTACGGATTTCTCTGAGAATAATTTTAGATGCAAATTAAAGTTGCTAGTTTAAAAAGGAATTTTTCCCCCAAGGAAAGAAAGCCTTACAGAATTGTCACAAGCAATGGGATGCTCATATTCTTCCATCCAAAATTCACATCATATTTCATTCTTCAAATTAATCTGGAATATAAGTGTACTGCAAACAACTTGGAAAGAGAATACAGTTTGCTGCTTTTAACAAAAGTTAACTAGAAAGTAAACTAATAATTTACATACAGAGTAGCATTGATGTCTGTGTACAACGTCCATCAAAGCCTGCGTTACTTCTCTTGTCTTCATTTTTATCCTCTTCTTGGTGTTTCCTCTGAGCCTCTTCCTTGAGTTTGGCTCGTTTAAGACAGTGATCTTTTTCCTGCTCTCTGATTTGTGGTTCAATTACTGAATAGTCCTGCAATGCCTTAATCCTTTCTGAAGGCTCTATTTCTTTACCATCCAACCACTTAAAGAAAAACAATAAATATAGTACAATTGTTCAAAAGTAGCAGTGTGAATCAGCCCCAGGTTGATTTTGATTAGAAATAATAATATACCCGATAGTGATAGAGAATTAAAACAATATAATTAATGGGAAATATCAGAACATTGTTCTAAATTAATGTATATTTCATATAATTTACACAGTTTAAAAAATACCTTTACTAGTAATAATAATAATTAGGTCTGTTAAAACTGATAATTAATACAAGCTCTCAAAATATTTTCTATTAATTTTATAATTGCTCACTATGTCAAAAATGTCAATGCTTAAGTCAAATCATAGCTTCAAAGTACAACAATGGCACTTCCCAAAAGCTCTCTACAGAAAAAAAAGGCCTTGAATATTACACATGATTGGGCTCTAATACAAATGAGCCCATGTTTCACCCTTAACAACAAGACAAACAGATAGGCTATTGTTACAGCATTGTTTACATCTGATACTTCAATTATGATTTTCCAAAGTAAAATATTAAAATAAAAGCATCAACTAAAGTTCTAAAATGTTAAAGCTAACAGTTTAAAGATACCTATTTATCTACCCTGCCTTATTCTGCAAAATGAGGTGAGGTATTTAGGAAGGGGTGGTTGGAAGATAATGGTTCCCCAAGAATGTCCATGTTCTAATCTCCATGAATGTTACCTTACATGGCAAAAGGGGCTTTACAGGTGTGATTAGGTTAAGGATCTTGAATGATCAGGATGATTCTTATAAGGACCACAGAGGTCCTTATAAGTAAAAGAGAAAGACATGAGTGTCAGAGTTAGGGAGAGAGGTAAAGTTGGCACACTGATGTCTTTGGAGATGGAGGAAGAGGCCATGAGCCTAAAAATGCAGGTATCCTCTAGAAGCTGAAAGGGGCAAAGTAAGGGATTCTCTCCTAGAGCCTGAAGAAAGAATAACCCTGCCAACACCTTCATTTTAGCCCAGTGAAACCATTTCAGGCTTTTGATCTCCAGAATCATAAGGTGATACATTTGCATTGTTTTAAGTCACTAAGTTTGTCTCAATTTGTTACAGCAGCAATAAGAAACATAAAAAAGGAAAAAAAAATACACACAAAGATTTAGTCAAATATAAATTAAAAAATTATTAGAATCAGCTGAATTATAAGTCAAAATTATGTAGAGATTTGGAAAAAAGATAATGCCACATATGCTCTGGTCATAAGGACTCATATGGTTGCTATAGATGGGCTGCAGATTTGGTTCTGAGCTTCTTGGCAGCCAAAGCGAAATAGAAAAACATAACTAGTTACACAATTTTCATGGTCTTTAAGGAAAAAATAAAGTTTGTAGCTTTCCTCTAACATGCAGCTCTAAAACACATTTCTAGCACAGAGTTTCATAATGGAGATATTGAGAGATGTCAAGCATTGTTTCTGTAGAAATATGGCCATACAGTCACAGGTTTCATAAGGCTGTTTCTTGTAGTATCCTTCAATAAAGGTATCTTCATACCATTACTTATGAGACCATAATGATAAATTCAATGCAATAAAACCTATTATTTAAGGCATTAAGTAATTGTGGTCCACATACTTAATTTGATCTAATTTAATACAGGATTGGGATCAAATCAATTTGGAAATTTTTGGATAAATGAAATTTACTTATTTTGTAAGTATATATAAGTAAATACACTGATATAAATATATGAATCAACATAAAAGTAAATATATTTATATATAACTAATACTATATAAATAAAGCACTTTCATAAATTTCTGTTAAGTCATCCAGTTTGTGGCACTTTGTTATATTAATTTATATAGTATAATTTATATATAAATATATATTAACATAAAN | pathogenic | 139,150 |
The mutation impacting DNAAF11 (dynein axonemal assembly factor 11) on chromosome 8 at position 132632793: benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Primary_ciliary_dyskinesia_19'] | ACCAATAAACATATAAAAGATATTTAAAATATTCAAATTCACTAGTAACTACAGAAATGCAAATTAATTTTTTTAAAAATAGAGGATACTATATACTACACAACACACTTGATTGGCCAATATTTTTAAATATCATATTATCCAGTATTGGCAAAGACTGAAAACTCTTGTATATTGTTGATATATGAGTATAAATTATCACAACTACTCTAGAAAACAATTTGGCAATATGTAAAAAGTTGAAAAGATGTCATAATTGTAGCAATGCCATTGCTAAATACCCTGGAGAAACTTTCATACCTGAACAAGGAGACAAGGGCAACATTGCTTGAATATCTCAACAAATGTTCAACATGGATTCAATAAATATTTATTGGGCATCTTCTGTTGTGCCAGGCACCAGAGATACAGCCCTGGCAAAGAGAGACCATGATGCTACTTTCAGGAGATTCTATTCCTGTGAGAATAGGAAATGGGAATAGGGAAAACAACGTGCATGGCCATCCAAAGAGGGATGGCTGTGTCCAGGCTGACCAGCTGGCACCACTAGGAAGACCACATGTGTTGTTAGAGCCGCTGCACATTCTGATGGGTCAGGGCAAATGAAACACTGGTCATTAACTACTTTGAATATTACCTCTGGGATAAATTGTAATTTATTCATCCAACAGGATATTATTCTATACTTACAATGAATTAGTTTTGCATGTCTTCATGTGCGTAAATCTCAAAAACATAATGTTGCATGAAAAGCAAAGCTATAGAAAGGTATCATTCATGCTAAACACACATACTCAAACTACTATTGTTTAAGGAGGCATACTTGTGAAATAAGGGTATTAAAAATATGGATGGGATCAACATATATCAAACACGCACCAGCTTCAGGATAGCAGACGCCACTGGGATGAAGAGAGGCATGGGATGAAGGGGAAGTCTTTAAGGAGTGTCTGCTCTCTTAATGATATTTTATTTCTTATTTAAAAAAAGATCCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTTGGGGGAGTGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGAAGAATTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACTCTAAAACTTAAAGTATAATTTAAAAAAAAGTAAAAAAAAAAAAGATCCAAAGCAAACATACAAACTATTGTCATTTATTAAATCTAGGTGGTAGAACTACAAGCTGCCTATATAACTATTTTCAAACATTTATGTATGTCTGCAATATTTTATAATTATTATTTTCTCAATTTTAAGGGATTCTGTTATCTAAATACTTAATACTTTCACTGTATGGAATCAAATCAACTGACTATAGTTGCAATTCACTTAAAATAAACAAACATGAAAAATTTAATTTTTAAAAAACCAATTAGAGAGTTATTAATCACATTAAAAATGTATTCAGTATTTTTCTGAAATCTATTCCAATTCAGAAAATAGAATGTTTTATGATGCAATTAGAATTATTCAAATTATAATGTGATTTGTATTTAACTTTTCTAAAATATTCCTAGTTCGTAAATCAAAGTACACCTGTTAATTCATCTTTTCTGTACACATTTTACGGATTTCTCTGAGAATAATTTTAGATGCAAATTAAAGTTGCTAGTTTAAAAAGGAATTTTTCCCCCAAGGAAAGAAAGCCTTACAGAATTGTCACAAGCAATGGGATGCTCATATTCTTCCATCCAAAATTCACATCATATTTCATTCTTCAAATTAATCTGGAATATAAGTGTACTGCAAACAACTTGGAAAGAGAATACAGTTTGCTGCTTTTAACAAAAGTTAACTAGAAAGTAAACTAATAATTTACATACAGAGTAGCATTGATGTCTGTGTACCAACGTCCATCAAAGCCTGCGTTACTTCTCTTGTCTTCATTTTTATCCTCTTCTTGGTGTTTCCTCTGAGCCTCTTCCTTGAGTTTGGCTCGTTTAAGACAGTGATCTTTTTCCTGCTCTCTGATTTGTGGTTCAATTACTGAATAGTCCTGCAATGCCTTAATCCTTTCTGAAGGCTCTATTTCTTTACCATCCAACCACTTAAAGAAAAACAATAAATATAGTACAATTGTTCAAAAGTAGCAGTGTGAATCAGCCCCAGGTTGATTTTGATTAGAAATAATAATATACCCGATAGTGATAGAGAATTAAAACAATATAATTAATGGGAAATATCAGAACATTGTTCTAAATTAATGTATATTTCATATAATTTACACAGTTTAAAAAATACCTTTACTAGTAATAATAATAATTAGGTCTGTTAAAACTGATAATTAATACAAGCTCTCAAAATATTTTCTATTAATTTTATAATTGCTCACTATGTCAAAAATGTCAATGCTTAAGTCAAATCATAGCTTCAAAGTACAACAATGGCACTTCCCAAAAGCTCTCTACAGAAAAAAAAGGCCTTGAATATTACACATGATTGGGCTCTAATACAAATGAGCCCATGTTTCACCCTTAACAACAAGACAAACAGATAGGCTATTGTTACAGCATTGTTTACATCTGATACTTCAATTATGATTTTCCAAAGTAAAATATTAAAATAAAAGCATCAACTAAAGTTCTAAAATGTTAAAGCTAACAGTTTAAAGATACCTATTTATCTACCCTGCCTTATTCTGCAAAATGAGGTGAGGTATTTAGGAAGGGGTGGTTGGAAGATAATGGTTCCCCAAGAATGTCCATGTTCTAATCTCCATGAATGTTACCTTACATGGCAAAAGGGGCTTTACAGGTGTGATTAGGTTAAGGATCTTGAATGATCAGGATGATTCTTATAAGGACCACAGAGGTCCTTATAAGTAAAAGAGAAAGACATGAGTGTCAGAGTTAGGGAGAGAGGTAAAGTTGGCACACTGATGTCTTTGGAGATGGAGGAAGAGGCCATGAGCCTAAAAATGCAGGTATCCTCTAGAAGCTGAAAGGGGCAAAGTAAGGGATTCTCTCCTAGAGCCTGAAGAAAGAATAACCCTGCCAACACCTTCATTTTAGCCCAGTGAAACCATTTCAGGCTTTTGATCTCCAGAATCATAAGGTGATACATTTGCATTGTTTTAAGTCACTAAGTTTGTCTCAATTTGTTACAGCAGCAATAAGAAACATAAAAAAGGAAAAAAAAATACACACAAAGATTTAGTCAAATATAAATTAAAAAATTATTAGAATCAGCTGAATTATAAGTCAAAATTATGTAGAGATTTGGAAAAAAGATAATGCCACATATGCTCTGGTCATAAGGACTCATATGGTTGCTATAGATGGGCTGCAGATTTGGTTCTGAGCTTCTTGGCAGCCAAAGCGAAATAGAAAAACATAACTAGTTACACAATTTTCATGGTCTTTAAGGAAAAAATAAAGTTTGTAGCTTTCCTCTAACATGCAGCTCTAAAACACATTTCTAGCACAGAGTTTCATAATGGAGATATTGAGAGATGTCAAGCATTGTTTCTGTAGAAATATGGCCATACAGTCACAGGTTTCATAAGGCTGTTTCTTGTAGTATCCTTCAATAAAGGTATCTTCATACCATTACTTATGAGACCATAATGATAAATTCAATGCAATAAAACCTATTATTTAAGGCATTAAGTAATTGTGGTCCACATACTTAATTTGATCTAATTTAATACAGGATTGGGATCAAATCAATTTGGAAATTTTTGGATAAATGAAATTTACTTATTTTGTAAGTATATATAAGTAAATACACTGATATAAATATATGAATCAACATAAAAGTAAATATATTTATATATAACTAATACTATATAAATAAAGCACTTTCATAAATTTCTGTTAAGTCATCCAGTTTGTGGCACTTTGTTATATTAATTTATATAGTATAATTTATATATAAATATATATTAACATAAATACATTATATATAACTGTATATTATAACAAG | ACCAATAAACATATAAAAGATATTTAAAATATTCAAATTCACTAGTAACTACAGAAATGCAAATTAATTTTTTTAAAAATAGAGGATACTATATACTACACAACACACTTGATTGGCCAATATTTTTAAATATCATATTATCCAGTATTGGCAAAGACTGAAAACTCTTGTATATTGTTGATATATGAGTATAAATTATCACAACTACTCTAGAAAACAATTTGGCAATATGTAAAAAGTTGAAAAGATGTCATAATTGTAGCAATGCCATTGCTAAATACCCTGGAGAAACTTTCATACCTGAACAAGGAGACAAGGGCAACATTGCTTGAATATCTCAACAAATGTTCAACATGGATTCAATAAATATTTATTGGGCATCTTCTGTTGTGCCAGGCACCAGAGATACAGCCCTGGCAAAGAGAGACCATGATGCTACTTTCAGGAGATTCTATTCCTGTGAGAATAGGAAATGGGAATAGGGAAAACAACGTGCATGGCCATCCAAAGAGGGATGGCTGTGTCCAGGCTGACCAGCTGGCACCACTAGGAAGACCACATGTGTTGTTAGAGCCGCTGCACATTCTGATGGGTCAGGGCAAATGAAACACTGGTCATTAACTACTTTGAATATTACCTCTGGGATAAATTGTAATTTATTCATCCAACAGGATATTATTCTATACTTACAATGAATTAGTTTTGCATGTCTTCATGTGCGTAAATCTCAAAAACATAATGTTGCATGAAAAGCAAAGCTATAGAAAGGTATCATTCATGCTAAACACACATACTCAAACTACTATTGTTTAAGGAGGCATACTTGTGAAATAAGGGTATTAAAAATATGGATGGGATCAACATATATCAAACACGCACCAGCTTCAGGATAGCAGACGCCACTGGGATGAAGAGAGGCATGGGATGAAGGGGAAGTCTTTAAGGAGTGTCTGCTCTCTTAATGATATTTTATTTCTTATTTAAAAAAAGATCCATCATTCTCAGCAAACTATTGCAAGGACAAAAAACCAAACACCGCATGTTCTCACTCATAGGTGGGAATTGAACAATGAGAACACATGGACACAGGAAGGGGAACATCACACACCGGGGCCTGTTGTGGGGTTGGGGGAGTGGGGAGGGATAGCATTAGGAGATATACCTAATGTTAAATGAAGAATTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAAACCTGCACGTTGTGCACATGTACTCTAAAACTTAAAGTATAATTTAAAAAAAAGTAAAAAAAAAAAAGATCCAAAGCAAACATACAAACTATTGTCATTTATTAAATCTAGGTGGTAGAACTACAAGCTGCCTATATAACTATTTTCAAACATTTATGTATGTCTGCAATATTTTATAATTATTATTTTCTCAATTTTAAGGGATTCTGTTATCTAAATACTTAATACTTTCACTGTATGGAATCAAATCAACTGACTATAGTTGCAATTCACTTAAAATAAACAAACATGAAAAATTTAATTTTTAAAAAACCAATTAGAGAGTTATTAATCACATTAAAAATGTATTCAGTATTTTTCTGAAATCTATTCCAATTCAGAAAATAGAATGTTTTATGATGCAATTAGAATTATTCAAATTATAATGTGATTTGTATTTAACTTTTCTAAAATATTCCTAGTTCGTAAATCAAAGTACACCTGTTAATTCATCTTTTCTGTACACATTTTACGGATTTCTCTGAGAATAATTTTAGATGCAAATTAAAGTTGCTAGTTTAAAAAGGAATTTTTCCCCCAAGGAAAGAAAGCCTTACAGAATTGTCACAAGCAATGGGATGCTCATATTCTTCCATCCAAAATTCACATCATATTTCATTCTTCAAATTAATCTGGAATATAAGTGTACTGCAAACAACTTGGAAAGAGAATACAGTTTGCTGCTTTTAACAAAAGTTAACTAGAAAGTAAACTAATAATTTACATACAGAGTAGCATTGATGTCTGTGTACCAACGTCCATCAAAGCCTGCGTTACTTCTCGTCTTCATTTTTATCCTCTTCTTGGTGTTTCCTCTGAGCCTCTTCCTTGAGTTTGGCTCGTTTAAGACAGTGATCTTTTTCCTGCTCTCTGATTTGTGGTTCAATTACTGAATAGTCCTGCAATGCCTTAATCCTTTCTGAAGGCTCTATTTCTTTACCATCCAACCACTTAAAGAAAAACAATAAATATAGTACAATTGTTCAAAAGTAGCAGTGTGAATCAGCCCCAGGTTGATTTTGATTAGAAATAATAATATACCCGATAGTGATAGAGAATTAAAACAATATAATTAATGGGAAATATCAGAACATTGTTCTAAATTAATGTATATTTCATATAATTTACACAGTTTAAAAAATACCTTTACTAGTAATAATAATAATTAGGTCTGTTAAAACTGATAATTAATACAAGCTCTCAAAATATTTTCTATTAATTTTATAATTGCTCACTATGTCAAAAATGTCAATGCTTAAGTCAAATCATAGCTTCAAAGTACAACAATGGCACTTCCCAAAAGCTCTCTACAGAAAAAAAAGGCCTTGAATATTACACATGATTGGGCTCTAATACAAATGAGCCCATGTTTCACCCTTAACAACAAGACAAACAGATAGGCTATTGTTACAGCATTGTTTACATCTGATACTTCAATTATGATTTTCCAAAGTAAAATATTAAAATAAAAGCATCAACTAAAGTTCTAAAATGTTAAAGCTAACAGTTTAAAGATACCTATTTATCTACCCTGCCTTATTCTGCAAAATGAGGTGAGGTATTTAGGAAGGGGTGGTTGGAAGATAATGGTTCCCCAAGAATGTCCATGTTCTAATCTCCATGAATGTTACCTTACATGGCAAAAGGGGCTTTACAGGTGTGATTAGGTTAAGGATCTTGAATGATCAGGATGATTCTTATAAGGACCACAGAGGTCCTTATAAGTAAAAGAGAAAGACATGAGTGTCAGAGTTAGGGAGAGAGGTAAAGTTGGCACACTGATGTCTTTGGAGATGGAGGAAGAGGCCATGAGCCTAAAAATGCAGGTATCCTCTAGAAGCTGAAAGGGGCAAAGTAAGGGATTCTCTCCTAGAGCCTGAAGAAAGAATAACCCTGCCAACACCTTCATTTTAGCCCAGTGAAACCATTTCAGGCTTTTGATCTCCAGAATCATAAGGTGATACATTTGCATTGTTTTAAGTCACTAAGTTTGTCTCAATTTGTTACAGCAGCAATAAGAAACATAAAAAAGGAAAAAAAAATACACACAAAGATTTAGTCAAATATAAATTAAAAAATTATTAGAATCAGCTGAATTATAAGTCAAAATTATGTAGAGATTTGGAAAAAAGATAATGCCACATATGCTCTGGTCATAAGGACTCATATGGTTGCTATAGATGGGCTGCAGATTTGGTTCTGAGCTTCTTGGCAGCCAAAGCGAAATAGAAAAACATAACTAGTTACACAATTTTCATGGTCTTTAAGGAAAAAATAAAGTTTGTAGCTTTCCTCTAACATGCAGCTCTAAAACACATTTCTAGCACAGAGTTTCATAATGGAGATATTGAGAGATGTCAAGCATTGTTTCTGTAGAAATATGGCCATACAGTCACAGGTTTCATAAGGCTGTTTCTTGTAGTATCCTTCAATAAAGGTATCTTCATACCATTACTTATGAGACCATAATGATAAATTCAATGCAATAAAACCTATTATTTAAGGCATTAAGTAATTGTGGTCCACATACTTAATTTGATCTAATTTAATACAGGATTGGGATCAAATCAATTTGGAAATTTTTGGATAAATGAAATTTACTTATTTTGTAAGTATATATAAGTAAATACACTGATATAAATATATGAATCAACATAAAAGTAAATATATTTATATATAACTAATACTATATAAATAAAGCACTTTCATAAATTTCTGTTAAGTCATCCAGTTTGTGGCACTTTGTTATATTAATTTATATAGTATAATTTATATATAAATATATATTAACATAAATACATTATATATAACTGTATATTATAACAAGNN | pathogenic | 139,152 |
Is the genetic mutation found on chromosome 8 at position 132638008, within the gene DNAAF11 (dynein axonemal assembly factor 11), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_19'] | GATTCTCCCTCGCAGCCCCTGGAAGGAACCAGTCCCGTCAACATCTTGAACTTGAACGTCTGGCCTTCAGAACTACAAGATGATACATTTCTGTTGTCTAAGCCATCTAGTTTGCAGTACTTTGTTACAGCAGCCCTAGGAAAATAATACATTTATTAACACAATTCCTTTTAAGCAGCTCACAAGCTTTCAATGAAATGGTAATTAAGACTCTAAAGCATATCAACCTATTTTTACATAGTAGTAAACATATGAATACCATTTTTCAAAAAGGGGCTGTTTTCTATTGAAGCAGTTAATTTGGAGAAGTCTTTCTGAAAGGAAAGACTTGATCCAAAGCCTATAATTTAACCCGGAGAGAAGCAGTGAATGTGGGTATAGTGTGAATGGTGGAGGCATCAAGGTCCGACTCACATAGGTTCAGATCCCACCTGTGTCACTTGCCAGATATGTCAGCCTAAACAAGCAGTGTTCATTCCCTGAGCCCTGACTTCCTCATCTCTGAATGTACCTAATTGTCTCCCTGAATGGGTCTGGGAGGATCAAAAACACTGTGCCCAAAGTACCTGGCACAACCTCTGACCCTGTCTGCAGCAGCCATATGATGGCTCTCACACCTCTAGCCTGACCAGGCTCAGCTGCAGCACTGACACAGGCTCAGCTGCGGTGGCCATGAGGACTCCTGGACCCTTAGCCCTTCCAAGGGAACGGCTCACAGCATTACACTACAAGATCTAGTCCTATGATAGTCTGGGTCTCATCAGTTCATTTTCTAGGAAATCACTGTATAATAATGATCAGTTTAGGTTATGTATGAGACAATTTATCATTTATTCTATATTCAATTACTTGAATCACTCATTCTCTTAATCTGAGAAATTTTACATTAGAAGAAATGTGTTCCATTAATCCAGCAGTCAGCAGTCTCTTGACTGCAGAGAACACAGAAGTCTAAGAAACAAACGTCCTTTGAGAACTGAAAAAATGCCTATTGAACAGGCGATGTATCCATGCATTCTCTTTCCAGGAACATGGAGCCACATGCAGGCTGGGAACTCTTAGAATTACATGAAACGTAACATTGCTATCTTAATATTCTCTGTTGTATGATTTCTCAAGAAATAATATTTTTTCCTCAGTTCTAAAATTACTCGATTGGGGGGATATGGTATAAGAGTAACATACGCAGTAGTGGTTGTCAAATGAGGTTCCTGCACCAGCAGCAGAATTACCAGATTTTGTTAGAAATGTGAAATCTCAGGCCCCATGTCAGACCTGACCCAGAAACCCTGGGGGAGGAGCACAGCAGTCTGTGTTTTGAAAAGGCCTCCACGTGCTCTGATGCACACCAAAGACTGTGAACCTGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAGTAGGCAGACATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGACAATCACTTGAACCTGGTAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAACAAGTAATAATGAATTCTTATCAGTAATGATGAATGTTCTTCGTAACTATGATTTGAACTCATTGAGAAAAAGTCAAATTAAGTTCTGTGTGTTTTGGATGAGAAAGGTGAAAAGTATGCAATTTATTTTTCAGGGATTTATTAAAACTATTCAAACAATATTAAAGGTCTAGCCATTCAAATAATTACTTTGGGCTCTCTGGAATATTCCATTATCTGAAGCAACACATTCACTGTTGCTGCCAGTAAAGCAGGAATTATTGTAGTTGCTCATGCTCATTTATCTGTGATTTCTGCACCATTAAAAGAACCATACCTTTAATTGTGGAAGAGTTGCTACCACGAACTCCCTATAGTGGTCAAAGGAAGCACATGGGTTCCCCATGAGAAAGAGCTCCTTCAGATGGATATTGTGCTGCAAGTTTTTAATGCTGCTCAGCTCTCCAATGAAATTCACAGTCAGGTCAAGTTTTGCCAGCTCTTCACATCCTGTTGAGAAAAATAAAGTGAAAACAAAGCAAACAAAGAAAAATCACACTGGTAACAAAACGTGTGTAACATCACATAACAGAAGTAACAGTTGTAGTATTTTCAGTCTGCTGATTTATTGCATTGCTCACCATGAAGTGATTCTTCAGAAATATCAACTCAAAGGCTTCATCTTAACTCATTTTTCTATCTCTGTCTCTCCTTATTTTCACCGTCTGAGTCCTTCCAGCCAGGGGAAATCACTTTCCCTGCTCACACTTACAAGGCTGGTTAATTTTTCTGATTTGGTCACTATCTGGCATGAAAAAAGGAAAAGTAAAAGCTGCTACTATACTTTTCCAGTGGATGCTACCTCAGAACAAAACTCCTACTACAGAGGGCACCTGGAACCTGTCCTCTTGAGTTTTAGCAGGTAGGTGGGACATATTTCATCTTGGAGGGTGATAGTGGAAAGATTCTCCAAAAAGAAAGGCATTTCATAAAACCAGCGCATCCAAACCAATATTTGCAAAGTCACCTAGCAGAGAGAGAATGGCTCTAAGGCCACCAAGAACTGAACTGAAGGTATTAACAAAAGTGAAGAATAAGACGTTTTGATGTTCAAAGGAATAATAGAAAAAGGGTGAGTCACTGAAGTAGGGTTTTATAGTAAATCTGACCCATCCACCTTCATTACAGAGATAGCCAGATGCTATAGAAACTTGAATGGAATCTAAATTTGAATTTGAATTAATCCCCTCATTCACATTCCATGCAAATTTGGAGGCTAGGAGTCCAGACTTGGGAATTAGACAGATACAAGTTCAAGTGCTTCCTCTACCTCATCCTTGCTAATGTGACCTTGGGTAAGTTACAAGCTTCAGCCTGCTCATCTATAGAATTATAATAGTATTGGTACCAGAGTCAGAAGTTGCGAAGATAATATACGATGACTCATGTAAAGCGCTTAGCATAATGCTTGCCACCTAGAGTGTCAGTAAACATGAGCTATGATTAGAATAGCTCAATGAGCACTCTAATTACCATATGACTTCTCGGACAATGTACCTATGTGGAAAGAAGCAAGCACAGCTGTCTCATGAGCAGAAACCTTGCAGTTTCTTTCTATGAGCTAAGAAGAGTTGACCTAGTTTATGCAGCAGCCTTTGGGGGCTTGGTTCAATATAAGATTATCTCTCCCTATGACTGCCTCATGCCTGTGGGATTAACATGGCAGATTTTGCAACCTCCAATGTCTAGAAAGCCTTCCCCAGCTAATACCCCAGGTCCACCTTGTTCTGCATTTATGTCTTCAAAGTTCTACACACCCTTCCATTATCATTTCTTATTATATACTTTTTTGTAATTTTTCTGTGGCTATATAAATTTAGAGTGAATTTTGGTTCCTGATAGATTAACGTCACCAATATGAATTTGATTCAGATTGGTTCATAGCTATGCAACTGTATCACCTTTGGTGAGGTTTCCTCAATTCTGAAGGCTATATAATGGAACCAACTTCACTAAATGATGGTGTTCTCTCCGTGTTCCTAGATCCTATCACCTGACTCAATCTTGTCCAGAATTCCACGTTTTCCTCTTATTAAGTCAGATCCCAAGCCAATCTCCTCCAAATAAGTTACCTCTATCTTAGAACTTCCAGATATAGCACCTCTCTATATCCACCCATCCATTCATCCACCCATATAGGAGTTACAGGTTGCCTGCTAACATAGATGTTGCTGAGCAAGCTCTTTAGGATAAACTGATAAAAAAAAAAAATCATGGTCCCTGAGTTCACATTTATGTCTAACATAGAGAAAAGATAAAACGAGAAAAAAATACAAGGAAAAGAAAATTAAATGTGCAAACACAGAATCCAGAAGTAGGCAATGCCCATTAGACATTGTAAGCTACCCTAAACCTATATTCATTCAAGCCATTGTTTCTGGCATTCTACAAGATTTGC | GATTCTCCCTCGCAGCCCCTGGAAGGAACCAGTCCCGTCAACATCTTGAACTTGAACGTCTGGCCTTCAGAACTACAAGATGATACATTTCTGTTGTCTAAGCCATCTAGTTTGCAGTACTTTGTTACAGCAGCCCTAGGAAAATAATACATTTATTAACACAATTCCTTTTAAGCAGCTCACAAGCTTTCAATGAAATGGTAATTAAGACTCTAAAGCATATCAACCTATTTTTACATAGTAGTAAACATATGAATACCATTTTTCAAAAAGGGGCTGTTTTCTATTGAAGCAGTTAATTTGGAGAAGTCTTTCTGAAAGGAAAGACTTGATCCAAAGCCTATAATTTAACCCGGAGAGAAGCAGTGAATGTGGGTATAGTGTGAATGGTGGAGGCATCAAGGTCCGACTCACATAGGTTCAGATCCCACCTGTGTCACTTGCCAGATATGTCAGCCTAAACAAGCAGTGTTCATTCCCTGAGCCCTGACTTCCTCATCTCTGAATGTACCTAATTGTCTCCCTGAATGGGTCTGGGAGGATCAAAAACACTGTGCCCAAAGTACCTGGCACAACCTCTGACCCTGTCTGCAGCAGCCATATGATGGCTCTCACACCTCTAGCCTGACCAGGCTCAGCTGCAGCACTGACACAGGCTCAGCTGCGGTGGCCATGAGGACTCCTGGACCCTTAGCCCTTCCAAGGGAACGGCTCACAGCATTACACTACAAGATCTAGTCCTATGATAGTCTGGGTCTCATCAGTTCATTTTCTAGGAAATCACTGTATAATAATGATCAGTTTAGGTTATGTATGAGACAATTTATCATTTATTCTATATTCAATTACTTGAATCACTCATTCTCTTAATCTGAGAAATTTTACATTAGAAGAAATGTGTTCCATTAATCCAGCAGTCAGCAGTCTCTTGACTGCAGAGAACACAGAAGTCTAAGAAACAAACGTCCTTTGAGAACTGAAAAAATGCCTATTGAACAGGCGATGTATCCATGCATTCTCTTTCCAGGAACATGGAGCCACATGCAGGCTGGGAACTCTTAGAATTACATGAAACGTAACATTGCTATCTTAATATTCTCTGTTGTATGATTTCTCAAGAAATAATATTTTTTCCTCAGTTCTAAAATTACTCGATTGGGGGGATATGGTATAAGAGTAACATACGCAGTAGTGGTTGTCAAATGAGGTTCCTGCACCAGCAGCAGAATTACCAGATTTTGTTAGAAATGTGAAATCTCAGGCCCCATGTCAGACCTGACCCAGAAACCCTGGGGGAGGAGCACAGCAGTCTGTGTTTTGAAAAGGCCTCCACGTGCTCTGATGCACACCAAAGACTGTGAACCTGCCGGGCACGGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCACATCTCTACTAAAAATACAAAAGTAGGCAGACATGGTGGCACATGCCTGTAATCCCAGCTACTTGGGAAGCTGAGGCAGGACAATCACTTGAACCTGGTAGGCAGAGTTTGCAGTGAGCCGAGATCGTGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCATCTCAAAAAAAAAAAAAACAAGTAATAATGAATTCTTATCAGTAATGATGAATGTTCTTCGTAACTATGATTTGAACTCATTGAGAAAAAGTCAAATTAAGTTCTGTGTGTTTTGGATGAGAAAGGTGAAAAGTATGCAATTTATTTTTCAGGGATTTATTAAAACTATTCAAACAATATTAAAGGTCTAGCCATTCAAATAATTACTTTGGGCTCTCTGGAATATTCCATTATCTGAAGCAACACATTCACTGTTGCTGCCAGTAAAGCAGGAATTATTGTAGTTGCTCATGCTCATTTATCTGTGATTTCTGCACCATTAAAAGAACCATACCTTTAATTGTGGAAGAGTTGCTACCACGAACTCCCTATAGTGGTCAAAGGAAGCACATGGGTTCCCCATGAGAAAGCTCCTTCAGATGGATATTGTGCTGCAAGTTTTTAATGCTGCTCAGCTCTCCAATGAAATTCACAGTCAGGTCAAGTTTTGCCAGCTCTTCACATCCTGTTGAGAAAAATAAAGTGAAAACAAAGCAAACAAAGAAAAATCACACTGGTAACAAAACGTGTGTAACATCACATAACAGAAGTAACAGTTGTAGTATTTTCAGTCTGCTGATTTATTGCATTGCTCACCATGAAGTGATTCTTCAGAAATATCAACTCAAAGGCTTCATCTTAACTCATTTTTCTATCTCTGTCTCTCCTTATTTTCACCGTCTGAGTCCTTCCAGCCAGGGGAAATCACTTTCCCTGCTCACACTTACAAGGCTGGTTAATTTTTCTGATTTGGTCACTATCTGGCATGAAAAAAGGAAAAGTAAAAGCTGCTACTATACTTTTCCAGTGGATGCTACCTCAGAACAAAACTCCTACTACAGAGGGCACCTGGAACCTGTCCTCTTGAGTTTTAGCAGGTAGGTGGGACATATTTCATCTTGGAGGGTGATAGTGGAAAGATTCTCCAAAAAGAAAGGCATTTCATAAAACCAGCGCATCCAAACCAATATTTGCAAAGTCACCTAGCAGAGAGAGAATGGCTCTAAGGCCACCAAGAACTGAACTGAAGGTATTAACAAAAGTGAAGAATAAGACGTTTTGATGTTCAAAGGAATAATAGAAAAAGGGTGAGTCACTGAAGTAGGGTTTTATAGTAAATCTGACCCATCCACCTTCATTACAGAGATAGCCAGATGCTATAGAAACTTGAATGGAATCTAAATTTGAATTTGAATTAATCCCCTCATTCACATTCCATGCAAATTTGGAGGCTAGGAGTCCAGACTTGGGAATTAGACAGATACAAGTTCAAGTGCTTCCTCTACCTCATCCTTGCTAATGTGACCTTGGGTAAGTTACAAGCTTCAGCCTGCTCATCTATAGAATTATAATAGTATTGGTACCAGAGTCAGAAGTTGCGAAGATAATATACGATGACTCATGTAAAGCGCTTAGCATAATGCTTGCCACCTAGAGTGTCAGTAAACATGAGCTATGATTAGAATAGCTCAATGAGCACTCTAATTACCATATGACTTCTCGGACAATGTACCTATGTGGAAAGAAGCAAGCACAGCTGTCTCATGAGCAGAAACCTTGCAGTTTCTTTCTATGAGCTAAGAAGAGTTGACCTAGTTTATGCAGCAGCCTTTGGGGGCTTGGTTCAATATAAGATTATCTCTCCCTATGACTGCCTCATGCCTGTGGGATTAACATGGCAGATTTTGCAACCTCCAATGTCTAGAAAGCCTTCCCCAGCTAATACCCCAGGTCCACCTTGTTCTGCATTTATGTCTTCAAAGTTCTACACACCCTTCCATTATCATTTCTTATTATATACTTTTTTGTAATTTTTCTGTGGCTATATAAATTTAGAGTGAATTTTGGTTCCTGATAGATTAACGTCACCAATATGAATTTGATTCAGATTGGTTCATAGCTATGCAACTGTATCACCTTTGGTGAGGTTTCCTCAATTCTGAAGGCTATATAATGGAACCAACTTCACTAAATGATGGTGTTCTCTCCGTGTTCCTAGATCCTATCACCTGACTCAATCTTGTCCAGAATTCCACGTTTTCCTCTTATTAAGTCAGATCCCAAGCCAATCTCCTCCAAATAAGTTACCTCTATCTTAGAACTTCCAGATATAGCACCTCTCTATATCCACCCATCCATTCATCCACCCATATAGGAGTTACAGGTTGCCTGCTAACATAGATGTTGCTGAGCAAGCTCTTTAGGATAAACTGATAAAAAAAAAAAATCATGGTCCCTGAGTTCACATTTATGTCTAACATAGAGAAAAGATAAAACGAGAAAAAAATACAAGGAAAAGAAAATTAAATGTGCAAACACAGAATCCAGAAGTAGGCAATGCCCATTAGACATTGTAAGCTACCCTAAACCTATATTCATTCAAGCCATTGTTTCTGGCATTCTACAAGATTTGCNN | pathogenic | 139,156 |
Is the variant located on chromosome 8 at position 132661557, gene DNAAF11 (dynein axonemal assembly factor 11), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_19'] | TGGGAACTCTTTTAGATCTGTACAATTAGAACCGTTCTTTCATGCCCCCATGCATAAAAGCTGGTGGTTTTCTGTAATAGCCTTTTTAATTGAACAATGTGCCAGAGTTTCTAATTTCTGGTCAAGTTAAAGATGCCAAAAATAATTAACTCAAAAAATACAGAGAATTTTAGTAAATCTTCCAAAAATGATGCAAACCTAGGCTTTTTGCAAGCCTGAGGCTAATTTTCAATTATCCACGAAACTAGAAGCAACCACATCACCAGGGTTTCTCAACCTCAGCAATACTAACATTTTGGGCTGGATATTCTTTCTTGCGGGGGGTGGGGGAGCATCCTGAGCACTGTAGGATGGTTTGCAGTATTCCTGGCCTCTATACACTAGATGCCAATAGCATCCTCTCCCCATCCTCCCATACACATGCGACAACCAAAAATATCTCCAGACATTGCCAAATGCCCCTGTTGTGAACCACTGCACATCATCACGGGAAGTTAAATATGATCCTGCAAGCTGACCTCTGGGTTCTCGTGCCAGGGCACACAGGGGTTGGCACTCACTCTGCCTCCTCAGCCCTGACTCCATCCCTTTTCCTCCAACTCCACTGGCTTCTCCTTTCTGCTCCTACCTTCATTTGGCTAGCCTGGGGCACAATGAGGTAAATGATCAAATTGGTAACAGCAGCAGCACAGCAGCTATCCTGTAATGAGTACTTATCTTTTTTTTTTTTAATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCGTGCTGGTCTTATGGTGAGCAAGCACTAAGCATATCATTTCATGTAATCCCTATGCCAATTTACATTTTAGGCATTATTAGCCATTTTACAGATGGCAAGACTAAGACTTGGGCAAGTAACTGACTTGTCAAATTTCACACTGCATAGAGGGAGGCGGGAGAGGCAGTGTTCTGACCCAGGTTTACCTGATGCCAGAGCCTGTGCTTTCTCTTTCCGGGTGCTGGGGATTCTCCTTCTGTGTCCATGTGGCAGGACCTCCATTAGAGTAACTCCACAGGCCTCCCTTCCCTCTTCCCTTTAATTCATCATTCTTCTGTGAGAGAAGTCAAGTGTGGTGGGGGAAGGAAGACCAATTTATCTGATAGGTTAATCAGGAGAAGAAACTGAGCATGCCCAGTCCTACCCTCTTTCCTGGTTTCTGGGATCTTCCTGCCAGCAGAGAGCACATGGTCTCAACCTACCTCCTGACATAAAGCAAAGGCCCACCTGGGGAGGAGAAACTTGTGGTTGTTCAATTCTGCATGTAACTGGGTGGGTAGGTTAATTCTGAGGGCAATATTAGCAAGCCCACTTGGCTGCAAGTCTACGCCACTTTCTTAGAAGAGCTTTATCAGTTATAATACTGATATTTTTATCTTCATTGACCTGATCCCTGCATTTACCTCTAATTTCCATTCCAAATCGGAAGCCCCTCAATACCCAATACTGAGCCCAATGCCTTGCACATATATGGTCACAATAAATATAGCAAAACTAGCTATTGAATTCTGCAGTAACCTGACAAGGACTCCCTCAATTCTCATATAAATTTGTTTTGCAGTGTGATGTAAAATGATGACAAATGCCTCCTCCCTTTCAAACTTAAAAAAAAAAAATCAGGTCTGATGTGTTCTCTGTCTTTTTAGATGATCAGGTCAACTAATGTGTTCCTCACCTTTACCTGCTCTCCCAACTCCTTGCTGGAAATTGTTTTCACTACACACAGAAATGTTCAGGGAAACGCCCCCCACACAACCACTGAGAGATGGCTGTGTCTGTTTTCCCATGGAGTTTTTTTTTCAGTGATTGTCTTCTAAAAATAACACAGCACTTTCCAAAGTTCTCTCATTCACAATGTTCAAGAAACCATGAGAACTAAGTACTGAAACTTACCAATTTTCCCAATAAGATTATTTTGAAGATAGAGAATTTTTAAATCCCGGCACCATTTATCAATGTGTTCTAGTCTTTCTATTTCTTGCTGATGCAACGAGAGTTCCTCCAGGGAAAAAATGACACAGTCGTTGTGTTCAGCATTCCGTCTAATAAGATCTTCTGTGACTGGAAGAAAATGTGTTACATATTACATTTCTGTCCCCATTGTTCAATATAAGATTATTGTGTTGTTAACGCATTTGTGTTTTTTTTGTTTGTTTTTGCAGTTGAATGTCAATTTTCCAGGCCCAAGCGATTTTCAAAGTGAGAGAGAAAATGGTACCTCCTCCTGGAGTTTTTGTGATGCCATGATGTGAGCTGGAGAGAAGAAGAAGACATGATGATATTGTATTTGCCTTTGAATGTGAAGGGTCTACATACATTTTGCTGTATGGATGGAGATGGAGTTGAGAGTTAATGGCTATAAAAATGTTTACATGGAATCTTATGGTGGTACCATGTTAAAATGGATGAGATCCACTAACTAATCTGAGACAGAGCAACTTGCTACTGAGAGGCACAGTTGAGCTGTCAGAGGGCAGAAATATGAAAGCATCTTCTACCATTCAGAAAATAAAGGTCACAGGTCATTCATTTAACCAATGTTTATTAATTTAACTAAAGCTTAAAAGAAAGAAAAGGAACGCTTTAGATCTTGCACTGCATTCTTATAAAGCAGCCACCACTTGTTTTGTTTCCAGGAGAAGTATTTTTGAAAGCTGCTCACAGAAGGAGGTGTAATGGGAGCTCCCACCCCTCTGACAAGAGTGATGTGTAGTGCTGGGTTCACCTGCCACAGAAGGTCAGCAGTACGTGAGGAAGACGGCGCCAGGAGACTGGACATAGCACTATCTATGGTCCACAGTCAGAGCCAAGCACAAGATCATGAATCATCTTTGTAAAGATGCATTGAAACCAAAAAGGTAATGACAAGGAGGAACCAGGCATTTCCCACTGCCACTAAAACTGGTATTTGTTGAACCCTCACATCTTCTGTAGGATGTGGAAATATTGTATGTCTACCCCAGGAGATAATAAAGACTCACTGTCACTTACAAGGTGCCAGGTAGTATTCTAAATTCTTTGCATGTATTAATATATGACTATCTGGAGTTATTACTGCCATTTGTCAGATGAGGAAGTAAAGCACAGAGAGTTTAAATAACTTACCTGGGTCTTGGTGATAAGTGCTAGAGCCAGGTTTTAAATTCATGGTTTAGTGCCAGACCACCTGCTCTTAACCACTATGCTCCACTGTCTCAAGCATAAGCAAATAACAGCCTCTAGAAATTCCAGGTTTCCTGAAGGTGCAGACTCCTCTAGCTGAGACAGAGTTCTTCACAGCAACTTCTGCTACCACACCTCTATGTCACATCCTTAAAAGTGGAATTTGCCTTTTTATTAAATGTAAAAACATGTACGAACTTATCATTCATGTGGAGTTAGCTAAACTCTCTGCTACTTCTAGTGGTAGGAGATACGGGTGCTTGCAATGACAGTTCTTTATAAGAAGGACCAGAGCAATGTAGAGGTTGAGAGATTAAAATACCATACATGGGGAAAGTCCTTGCTGCTCTAAGCTTTGGCTCAACTAACAGGCAGAGATGGTCACAAACCAGATCCTGGTAAGGGACAGCCCAAAGCGCCCAGGAAGGAGGCTAACAGTACACCACCACCAGCCTGGCTCGCTGGGAACCCTGCTGCCAGCACCATTCAGCTGTCCCTGGAATTCCAATAATGGTTTGTGAACCAGCTTAAATAGGGTGCTATAATCAAGGAAAAGAGAAAAACCAAACCTGTAAGAGAAGAGCATTAAAACTACTCTCTATCCTCCTAACCAAAGTTGGTTCTAACAGCTTAAATCAACTGATAATGAATAAATGGGTACAGCCAGAGGATAGAGCAATGCTCCTGTGTAAAGTAAATGTATGATCTAGATCTGTAATTTACCTATAAGAATTCTCTTAGCAAGGATGCAACATGGGTCAAGGGGTTGAGATTGCACAACCTTGTTATCTGTACATTTAACAAAATGTGGAAATTACTGACCACTAGTAATAAGACCCTCAATGACTAACGGTATATCTGTAACTTAAACTACTC | TGGGAACTCTTTTAGATCTGTACAATTAGAACCGTTCTTTCATGCCCCCATGCATAAAAGCTGGTGGTTTTCTGTAATAGCCTTTTTAATTGAACAATGTGCCAGAGTTTCTAATTTCTGGTCAAGTTAAAGATGCCAAAAATAATTAACTCAAAAAATACAGAGAATTTTAGTAAATCTTCCAAAAATGATGCAAACCTAGGCTTTTTGCAAGCCTGAGGCTAATTTTCAATTATCCACGAAACTAGAAGCAACCACATCACCAGGGTTTCTCAACCTCAGCAATACTAACATTTTGGGCTGGATATTCTTTCTTGCGGGGGGTGGGGGAGCATCCTGAGCACTGTAGGATGGTTTGCAGTATTCCTGGCCTCTATACACTAGATGCCAATAGCATCCTCTCCCCATCCTCCCATACACATGCGACAACCAAAAATATCTCCAGACATTGCCAAATGCCCCTGTTGTGAACCACTGCACATCATCACGGGAAGTTAAATATGATCCTGCAAGCTGACCTCTGGGTTCTCGTGCCAGGGCACACAGGGGTTGGCACTCACTCTGCCTCCTCAGCCCTGACTCCATCCCTTTTCCTCCAACTCCACTGGCTTCTCCTTTCTGCTCCTACCTTCATTTGGCTAGCCTGGGGCACAATGAGGTAAATGATCAAATTGGTAACAGCAGCAGCACAGCAGCTATCCTGTAATGAGTACTTATCTTTTTTTTTTTTAATTATACTTTAAGTTTTAGGGTACATGTGCACATTGTGCAGGTTAGTTACATATGTATACATGTGCCGTGCTGGTCTTATGGTGAGCAAGCACTAAGCATATCATTTCATGTAATCCCTATGCCAATTTACATTTTAGGCATTATTAGCCATTTTACAGATGGCAAGACTAAGACTTGGGCAAGTAACTGACTTGTCAAATTTCACACTGCATAGAGGGAGGCGGGAGAGGCAGTGTTCTGACCCAGGTTTACCTGATGCCAGAGCCTGTGCTTTCTCTTTCCGGGTGCTGGGGATTCTCCTTCTGTGTCCATGTGGCAGGACCTCCATTAGAGTAACTCCACAGGCCTCCCTTCCCTCTTCCCTTTAATTCATCATTCTTCTGTGAGAGAAGTCAAGTGTGGTGGGGGAAGGAAGACCAATTTATCTGATAGGTTAATCAGGAGAAGAAACTGAGCATGCCCAGTCCTACCCTCTTTCCTGGTTTCTGGGATCTTCCTGCCAGCAGAGAGCACATGGTCTCAACCTACCTCCTGACATAAAGCAAAGGCCCACCTGGGGAGGAGAAACTTGTGGTTGTTCAATTCTGCATGTAACTGGGTGGGTAGGTTAATTCTGAGGGCAATATTAGCAAGCCCACTTGGCTGCAAGTCTACGCCACTTTCTTAGAAGAGCTTTATCAGTTATAATACTGATATTTTTATCTTCATTGACCTGATCCCTGCATTTACCTCTAATTTCCATTCCAAATCGGAAGCCCCTCAATACCCAATACTGAGCCCAATGCCTTGCACATATATGGTCACAATAAATATAGCAAAACTAGCTATTGAATTCTGCAGTAACCTGACAAGGACTCCCTCAATTCTCATATAAATTTGTTTTGCAGTGTGATGTAAAATGATGACAAATGCCTCCTCCCTTTCAAACTTAAAAAAAAAAAATCAGGTCTGATGTGTTCTCTGTCTTTTTAGATGATCAGGTCAACTAATGTGTTCCTCACCTTTACCTGCTCTCCCAACTCCTTGCTGGAAATTGTTTTCACTACACACAGAAATGTTCAGGGAAACGCCCCCCACACAACCACTGAGAGATGGCTGTGTCTGTTTTCCCATGGAGTTTTTTTTTCAGTGATTGTCTTCTAAAAATAACACAGCACTTTCCAAAGTTCTCTCATTCACAATGTTCAAGAAACCATGAGAACTAAGTACTGAAACTTACCAATTTTCCCAATAAGATTATTTTGAAGATAGAGAATTTTTAAATCCCGGCACCATTTATCAATGTGTTCTAGTCTTTCTATTTCTTGCTGATGCAACGAGTTCCTCCAGGGAAAAAATGACACAGTCGTTGTGTTCAGCATTCCGTCTAATAAGATCTTCTGTGACTGGAAGAAAATGTGTTACATATTACATTTCTGTCCCCATTGTTCAATATAAGATTATTGTGTTGTTAACGCATTTGTGTTTTTTTTGTTTGTTTTTGCAGTTGAATGTCAATTTTCCAGGCCCAAGCGATTTTCAAAGTGAGAGAGAAAATGGTACCTCCTCCTGGAGTTTTTGTGATGCCATGATGTGAGCTGGAGAGAAGAAGAAGACATGATGATATTGTATTTGCCTTTGAATGTGAAGGGTCTACATACATTTTGCTGTATGGATGGAGATGGAGTTGAGAGTTAATGGCTATAAAAATGTTTACATGGAATCTTATGGTGGTACCATGTTAAAATGGATGAGATCCACTAACTAATCTGAGACAGAGCAACTTGCTACTGAGAGGCACAGTTGAGCTGTCAGAGGGCAGAAATATGAAAGCATCTTCTACCATTCAGAAAATAAAGGTCACAGGTCATTCATTTAACCAATGTTTATTAATTTAACTAAAGCTTAAAAGAAAGAAAAGGAACGCTTTAGATCTTGCACTGCATTCTTATAAAGCAGCCACCACTTGTTTTGTTTCCAGGAGAAGTATTTTTGAAAGCTGCTCACAGAAGGAGGTGTAATGGGAGCTCCCACCCCTCTGACAAGAGTGATGTGTAGTGCTGGGTTCACCTGCCACAGAAGGTCAGCAGTACGTGAGGAAGACGGCGCCAGGAGACTGGACATAGCACTATCTATGGTCCACAGTCAGAGCCAAGCACAAGATCATGAATCATCTTTGTAAAGATGCATTGAAACCAAAAAGGTAATGACAAGGAGGAACCAGGCATTTCCCACTGCCACTAAAACTGGTATTTGTTGAACCCTCACATCTTCTGTAGGATGTGGAAATATTGTATGTCTACCCCAGGAGATAATAAAGACTCACTGTCACTTACAAGGTGCCAGGTAGTATTCTAAATTCTTTGCATGTATTAATATATGACTATCTGGAGTTATTACTGCCATTTGTCAGATGAGGAAGTAAAGCACAGAGAGTTTAAATAACTTACCTGGGTCTTGGTGATAAGTGCTAGAGCCAGGTTTTAAATTCATGGTTTAGTGCCAGACCACCTGCTCTTAACCACTATGCTCCACTGTCTCAAGCATAAGCAAATAACAGCCTCTAGAAATTCCAGGTTTCCTGAAGGTGCAGACTCCTCTAGCTGAGACAGAGTTCTTCACAGCAACTTCTGCTACCACACCTCTATGTCACATCCTTAAAAGTGGAATTTGCCTTTTTATTAAATGTAAAAACATGTACGAACTTATCATTCATGTGGAGTTAGCTAAACTCTCTGCTACTTCTAGTGGTAGGAGATACGGGTGCTTGCAATGACAGTTCTTTATAAGAAGGACCAGAGCAATGTAGAGGTTGAGAGATTAAAATACCATACATGGGGAAAGTCCTTGCTGCTCTAAGCTTTGGCTCAACTAACAGGCAGAGATGGTCACAAACCAGATCCTGGTAAGGGACAGCCCAAAGCGCCCAGGAAGGAGGCTAACAGTACACCACCACCAGCCTGGCTCGCTGGGAACCCTGCTGCCAGCACCATTCAGCTGTCCCTGGAATTCCAATAATGGTTTGTGAACCAGCTTAAATAGGGTGCTATAATCAAGGAAAAGAGAAAAACCAAACCTGTAAGAGAAGAGCATTAAAACTACTCTCTATCCTCCTAACCAAAGTTGGTTCTAACAGCTTAAATCAACTGATAATGAATAAATGGGTACAGCCAGAGGATAGAGCAATGCTCCTGTGTAAAGTAAATGTATGATCTAGATCTGTAATTTACCTATAAGAATTCTCTTAGCAAGGATGCAACATGGGTCAAGGGGTTGAGATTGCACAACCTTGTTATCTGTACATTTAACAAAATGTGGAAATTACTGACCACTAGTAATAAGACCCTCAATGACTAACGGTATATCTGTAACTTAAACTACTCNN | pathogenic | 139,162 |
Variant on chromosome 8, at position 132886514, affecting TG (thyroglobulin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Iodotyrosyl_coupling_defect', 'TG-related_disorder'] | GCTTCAATATATATATTAACATTCATTCAATAATTCCTGCTAAATCATTCCATTTGTCCCACTTAACCTTTTGAATATTCTTCATGGTATGTGGTTATATTCTATCTGCTAAGTGTGAGAATGTCGAAAAAGAAAATTTGGAGACACTTTCTTGAAGGTATTTACAATCACATTTCATTTCTACTAAAACCTAGAGAATGTTATGCCATCCAACTTCCAGGTGGAAATGAAGAACTATGGCTTTCCAAATTAAAGGCCATAAATGGCTCTATCAAGTGCATAGATAGATCATATATTTTCAATTTTTCTGTCTGGTATATCAGGTCCTATTTCTGTGGAAACAAATGCCACATGGAAACAGTAATTGAATTTCCTTGCTTTGGTAACACTACATAACAAATGGATGGAAAGAGAAAGGGTAAGCTCTTAATTTGGAAGAAGACTAAGCAAAGCAGTAAACTTTATTTCTGCCATACCTTCCTGTAATATCCATTAAAAGAGGCCATGGCCTCGTTGAGGGATGTTACGTGCTCTGATGCTGCCAATCTTTCCCCTCCCACCACATTTTCCAGTTCTTTCTCTGTTGCCTGGTTACAGAAGGAAATTGGCTGACTTTCTTTTTGGCATTTATGTGAATCAAGAGGAAAAAAATATTTTAAAAGTTGGGGGGGGGGCGTGGTGGTTAAAAGGTAAGAGTTATGATTTTATGGAGAAAAATGGAGCTTACTTTACATCCACCTATGTAACTGAGACAGCCCCTTGGTGTTTGAATTTTACATTTTTTCTCTCTTAATGTGGCTACAGTCAGCCTAGGATGTTCAGATAGAATGACTTGACCATGCAAAGAGTTGGCTGAGCTGATCACTGTTAAATTAGTAATTTCTAGGAAAGGTCAAGAAGCTCAGAAGAATGTTCTAAGTGTGTACACTGGGTAGGCATTATTGTTTTATATTATAGGAAGTATTATATTTCCTATATTATAATATATATTACAATATAGGAAAATATTTCTTATAATAGGAACCACTAACAGCATTTCAGATATGGTTCTTGCCCTCAAGGAGACCATAGCTAGCCTAGAAAAGACTACTCCCAAGGAGGAATTAGCCACACTAAAATCACATAGTGAAGCATTGAAGTCTATTGAGAATTCCAACGAGAGAATGCTGGAAGACAACATTTCATTAAATACGCATAGGAATGTGTTGGTCTACTAGTCTCCTAGAGCTGCCACAACAAGTCACCACAAACCAGGTGGTTTAAAACAACAGAAATTTATTCCCTCCTAGTTCTGGAGGCCAGAAGTCTGAAATCAAGGTGTGGGCAGGGCCATGCTCTCCCTGAAGGTTCTATGGCAGAATTCTTCCTTGCCCCTTCCTGGTTTCTGGTGGTTGCTGGCAATCCCTGGTGTCTTTGGCTTGTGGCTGCCTCCCTCCAATCTGTGCCTGTGTCTTCACACAGCCTTCTTCCCTGTGTGCATCTTTGTTTATTTACATGACCTTCTTATAAGGACATCAGTCATTGGATTTAGAGCCCACCCTAATCCAGTATGACATCATCTTAACTTGGTGACATCTGCAAAGACCCTATTTCTAGACCACATTCTGAGGTTCCCTGTAGACATGAACATCATGTCTGTGTGTGGTGGGGGACACTATTCACCTGAGTACCATTGGCAAGTGAGGTCAGGTTTTCAGAAAGTGAGCCAGTATTTTCAAGACTTGCCTTAGAAGGGATGAACCTCTAGTGAGAGCTGGTGGAGTGGTCATGCCAACTGGAAAAGTCACACTTCCAAAATGGCCCCACAAAGGCAGCTCAGGGGAAAGGAAAAAATAAAATGACACAGAGAAGAAAGTGGTTTCAAACGTAGGTGTCCTTGATTGAATGTTCTGGCTTCTTACTACCTAAAGGATCTGAGGAGCTGTCTCAGGATTGCTTGTGACATTAAAACCTTTTCTCCCATTTCACTTTGTCTCATGCAGCTGAAGGCCAATCTTGTGCCTCCGAAAGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGCTACTTCAGCCAGCACGACCTGTTCTCTTCCCCAGAGAAAAGATGGGCCTCTCCAAGAGTAGCCAGATTTGCCACATCCTGCCCACCCACGATCAAGGAGCTCTTTGTGGACTCTGGGCTTCTCCGCCCAATGGTGGAGGGACAGAGCCAACAGTTTTCTGTCTCAGAAAATCTTCTCAAAGAAGCCATCCGAGCAATTTTTCCCTCCCGAGGGCTGGCTCGTCTTGCCCTTCAGTTTACCACCAACCCAAAGAGACTCCAGCAAAACCTTTTTGGAGGGAAATTTTTGGTGAATGTTGGCCAGTTTAACTTGTCTGGAGCCCTTGGCACAAGAGGCACATTTAACTTCAGTCAATTTTTCCAGCAACTTGGTCTTGCAAGCTTCTTGAATGGAGGGAGACAAGAAGATTTGGCCAAGCCACTCTCTGTGGGATTAGATTCAAATTCTTCCACAGGAACCCCTGAAGCTGCTAAGAAGGATGGTACTATGAATAAGCCAACTGTGGGCAGCTTTGGCTTTGAAATTAACCTACAAGAGAACCAAAATGCCCTCAAATTCCTTGCTTCTCTCCTGGAGCTTCCAGAATTCCTTCTCTTCTTGCAACATGCTATCTCTGTGCCAGAAGATGTGGCAAGAGATTTAGGTGATGTGATGGAAACGGTACTCAGCTCCCAGACCTGTGAGCAGACACCTGAAAGGCTATTTGTCCCATCATGCACGACAGAAGGAAGCTATGAGGATGTCCAATGCTTTTCCGGAGAGTGCTGGTGTGTGAATTCCTGGGGCAAAGAGCTTCCAGGCTCAAGAGTCAGAGGTGGACAGCCAAGGTGCCCCACAGACTGTGAAAAGCAAAGGGCTCGCATGCAAAGCCTCATGGGCAGCCAGCCTGCTGGCTCCACCTTGTTTGTCCCTGCTTGTACTAGTGAGGGACATTTCCTGCCTGTCCAGTGCTTCAACTCAGAGTGCTACTGTGTTGATGCTGAGGGTCAGGCCATTCCTGGAACTCGAAGTGCAATAGGGAAGCCCAAGAAATGTAAGTCTGTTGGGTATTCAATCTGTAGGTTCCCTGAGTCTCTCTTTAGGCCCTGACCCAATGCAGTACAGTAATAGAAATCCACTCCTGGCCAATGCTTACACTTCAGTTAAGGACAAAATTGACTGCTTATATTAAAAATTATCCAGGAATGCCTAGATAATGTTAATCAGACCTAGGAGTAAATGGGGAGATTTGTCTGGCCTTAAAGAACTGCCACATTTCTGCAGTGCTGATCACCAACTGATGTCAATGGTGCTGATTTAGTCATGGGGCAATGCCTATCTAGATATTATTTACAAATTTAAGCTTCATGGTATTTCTATGGCTATATAAGGTTTTAGACGGAGTTTGGACAGTTAAGTGGTTTTATCTTGGTCTTTCCAGTTTGTTAAATTTCTTAAACTGAAACACCTGCTCATTGTTCCTCCCCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGGACGGTGCAGGCCCTGCTCTCTAACTCCAGCATGCTACCCACCCTTTCCGACACCTACATCCCACAGTGCAGCACCGATGGGCAGTGGAGACAAGTGCAATGCAATGGGCCTCCTGAGCAGGTCTTCGAGTTGTACCAACGATGGGAGGCTCAGAACAAGGGCCAGGATCTGACGCCTGCCAAGCTGCTAGTGAAGATCATGAGCTACAGAGAAGCAGCTTCCGGAAACTTCAGTCTCTTTATTCAAAGTCTGTATGAGGCTGGCCAGCAAGATGTCTTCCCGGTGCTGTCACAATACCCTTCTCTGCAAGATGTCCCACTAGCAGCACTGGAAGGGAAACGGCCCCAGCCCAGGGAGAATATCCTCCTGGAGCCCTACCTCTTCTGGCAGATCTTAAATGGCCAACTCAGCCAATACCCGGGGTCCTACTCAGACTTCAGCACTCCTTTGGCACATTTTGATCTTCGGAACTGCTGGTGTGTGGATGAGGCTGGCCAAGAACTGGAAGGAATGCGGTCTGAGCCAAGCAAGCTC | GCTTCAATATATATATTAACATTCATTCAATAATTCCTGCTAAATCATTCCATTTGTCCCACTTAACCTTTTGAATATTCTTCATGGTATGTGGTTATATTCTATCTGCTAAGTGTGAGAATGTCGAAAAAGAAAATTTGGAGACACTTTCTTGAAGGTATTTACAATCACATTTCATTTCTACTAAAACCTAGAGAATGTTATGCCATCCAACTTCCAGGTGGAAATGAAGAACTATGGCTTTCCAAATTAAAGGCCATAAATGGCTCTATCAAGTGCATAGATAGATCATATATTTTCAATTTTTCTGTCTGGTATATCAGGTCCTATTTCTGTGGAAACAAATGCCACATGGAAACAGTAATTGAATTTCCTTGCTTTGGTAACACTACATAACAAATGGATGGAAAGAGAAAGGGTAAGCTCTTAATTTGGAAGAAGACTAAGCAAAGCAGTAAACTTTATTTCTGCCATACCTTCCTGTAATATCCATTAAAAGAGGCCATGGCCTCGTTGAGGGATGTTACGTGCTCTGATGCTGCCAATCTTTCCCCTCCCACCACATTTTCCAGTTCTTTCTCTGTTGCCTGGTTACAGAAGGAAATTGGCTGACTTTCTTTTTGGCATTTATGTGAATCAAGAGGAAAAAAATATTTTAAAAGTTGGGGGGGGGGCGTGGTGGTTAAAAGGTAAGAGTTATGATTTTATGGAGAAAAATGGAGCTTACTTTACATCCACCTATGTAACTGAGACAGCCCCTTGGTGTTTGAATTTTACATTTTTTCTCTCTTAATGTGGCTACAGTCAGCCTAGGATGTTCAGATAGAATGACTTGACCATGCAAAGAGTTGGCTGAGCTGATCACTGTTAAATTAGTAATTTCTAGGAAAGGTCAAGAAGCTCAGAAGAATGTTCTAAGTGTGTACACTGGGTAGGCATTATTGTTTTATATTATAGGAAGTATTATATTTCCTATATTATAATATATATTACAATATAGGAAAATATTTCTTATAATAGGAACCACTAACAGCATTTCAGATATGGTTCTTGCCCTCAAGGAGACCATAGCTAGCCTAGAAAAGACTACTCCCAAGGAGGAATTAGCCACACTAAAATCACATAGTGAAGCATTGAAGTCTATTGAGAATTCCAACGAGAGAATGCTGGAAGACAACATTTCATTAAATACGCATAGGAATGTGTTGGTCTACTAGTCTCCTAGAGCTGCCACAACAAGTCACCACAAACCAGGTGGTTTAAAACAACAGAAATTTATTCCCTCCTAGTTCTGGAGGCCAGAAGTCTGAAATCAAGGTGTGGGCAGGGCCATGCTCTCCCTGAAGGTTCTATGGCAGAATTCTTCCTTGCCCCTTCCTGGTTTCTGGTGGTTGCTGGCAATCCCTGGTGTCTTTGGCTTGTGGCTGCCTCCCTCCAATCTGTGCCTGTGTCTTCACACAGCCTTCTTCCCTGTGTGCATCTTTGTTTATTTACATGACCTTCTTATAAGGACATCAGTCATTGGATTTAGAGCCCACCCTAATCCAGTATGACATCATCTTAACTTGGTGACATCTGCAAAGACCCTATTTCTAGACCACATTCTGAGGTTCCCTGTAGACATGAACATCATGTCTGTGTGTGGTGGGGGACACTATTCACCTGAGTACCATTGGCAAGTGAGGTCAGGTTTTCAGAAAGTGAGCCAGTATTTTCAAGACTTGCCTTAGAAGGGATGAACCTCTAGTGAGAGCTGGTGGAGTGGTCATGCCAACTGGAAAAGTCACACTTCCAAAATGGCCCCACAAAGGCAGCTCAGGGGAAAGGAAAAAATAAAATGACACAGAGAAGAAAGTGGTTTCAAACGTAGGTGTCCTTGATTGAATGTTCTGGCTTCTTACTACCTAAAGGATCTGAGGAGCTGTCTCAGGATTGCTTGTGACATTAAAACCTTTTCTCCCATTTCACTTTGTCTCATGCAGCTGAAGGCCAATCTTGTGCCTCCGAAAGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGTACTTCAGCCAGCACGACCTGTTCTCTTCCCCAGAGAAAAGATGGGCCTCTCCAAGAGTAGCCAGATTTGCCACATCCTGCCCACCCACGATCAAGGAGCTCTTTGTGGACTCTGGGCTTCTCCGCCCAATGGTGGAGGGACAGAGCCAACAGTTTTCTGTCTCAGAAAATCTTCTCAAAGAAGCCATCCGAGCAATTTTTCCCTCCCGAGGGCTGGCTCGTCTTGCCCTTCAGTTTACCACCAACCCAAAGAGACTCCAGCAAAACCTTTTTGGAGGGAAATTTTTGGTGAATGTTGGCCAGTTTAACTTGTCTGGAGCCCTTGGCACAAGAGGCACATTTAACTTCAGTCAATTTTTCCAGCAACTTGGTCTTGCAAGCTTCTTGAATGGAGGGAGACAAGAAGATTTGGCCAAGCCACTCTCTGTGGGATTAGATTCAAATTCTTCCACAGGAACCCCTGAAGCTGCTAAGAAGGATGGTACTATGAATAAGCCAACTGTGGGCAGCTTTGGCTTTGAAATTAACCTACAAGAGAACCAAAATGCCCTCAAATTCCTTGCTTCTCTCCTGGAGCTTCCAGAATTCCTTCTCTTCTTGCAACATGCTATCTCTGTGCCAGAAGATGTGGCAAGAGATTTAGGTGATGTGATGGAAACGGTACTCAGCTCCCAGACCTGTGAGCAGACACCTGAAAGGCTATTTGTCCCATCATGCACGACAGAAGGAAGCTATGAGGATGTCCAATGCTTTTCCGGAGAGTGCTGGTGTGTGAATTCCTGGGGCAAAGAGCTTCCAGGCTCAAGAGTCAGAGGTGGACAGCCAAGGTGCCCCACAGACTGTGAAAAGCAAAGGGCTCGCATGCAAAGCCTCATGGGCAGCCAGCCTGCTGGCTCCACCTTGTTTGTCCCTGCTTGTACTAGTGAGGGACATTTCCTGCCTGTCCAGTGCTTCAACTCAGAGTGCTACTGTGTTGATGCTGAGGGTCAGGCCATTCCTGGAACTCGAAGTGCAATAGGGAAGCCCAAGAAATGTAAGTCTGTTGGGTATTCAATCTGTAGGTTCCCTGAGTCTCTCTTTAGGCCCTGACCCAATGCAGTACAGTAATAGAAATCCACTCCTGGCCAATGCTTACACTTCAGTTAAGGACAAAATTGACTGCTTATATTAAAAATTATCCAGGAATGCCTAGATAATGTTAATCAGACCTAGGAGTAAATGGGGAGATTTGTCTGGCCTTAAAGAACTGCCACATTTCTGCAGTGCTGATCACCAACTGATGTCAATGGTGCTGATTTAGTCATGGGGCAATGCCTATCTAGATATTATTTACAAATTTAAGCTTCATGGTATTTCTATGGCTATATAAGGTTTTAGACGGAGTTTGGACAGTTAAGTGGTTTTATCTTGGTCTTTCCAGTTTGTTAAATTTCTTAAACTGAAACACCTGCTCATTGTTCCTCCCCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGGACGGTGCAGGCCCTGCTCTCTAACTCCAGCATGCTACCCACCCTTTCCGACACCTACATCCCACAGTGCAGCACCGATGGGCAGTGGAGACAAGTGCAATGCAATGGGCCTCCTGAGCAGGTCTTCGAGTTGTACCAACGATGGGAGGCTCAGAACAAGGGCCAGGATCTGACGCCTGCCAAGCTGCTAGTGAAGATCATGAGCTACAGAGAAGCAGCTTCCGGAAACTTCAGTCTCTTTATTCAAAGTCTGTATGAGGCTGGCCAGCAAGATGTCTTCCCGGTGCTGTCACAATACCCTTCTCTGCAAGATGTCCCACTAGCAGCACTGGAAGGGAAACGGCCCCAGCCCAGGGAGAATATCCTCCTGGAGCCCTACCTCTTCTGGCAGATCTTAAATGGCCAACTCAGCCAATACCCGGGGTCCTACTCAGACTTCAGCACTCCTTTGGCACATTTTGATCTTCGGAACTGCTGGTGTGTGGATGAGGCTGGCCAAGAACTGGAAGGAATGCGGTCTGAGCCAAGCAAGCTCN | pathogenic | 139,185 |
Considering the variant on chromosome 8, location 132886719, involving gene TG (thyroglobulin), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Autoimmune_thyroid_disease,_susceptibility_to,_3', 'Iodotyrosyl_coupling_defect'] | CCATCCAACTTCCAGGTGGAAATGAAGAACTATGGCTTTCCAAATTAAAGGCCATAAATGGCTCTATCAAGTGCATAGATAGATCATATATTTTCAATTTTTCTGTCTGGTATATCAGGTCCTATTTCTGTGGAAACAAATGCCACATGGAAACAGTAATTGAATTTCCTTGCTTTGGTAACACTACATAACAAATGGATGGAAAGAGAAAGGGTAAGCTCTTAATTTGGAAGAAGACTAAGCAAAGCAGTAAACTTTATTTCTGCCATACCTTCCTGTAATATCCATTAAAAGAGGCCATGGCCTCGTTGAGGGATGTTACGTGCTCTGATGCTGCCAATCTTTCCCCTCCCACCACATTTTCCAGTTCTTTCTCTGTTGCCTGGTTACAGAAGGAAATTGGCTGACTTTCTTTTTGGCATTTATGTGAATCAAGAGGAAAAAAATATTTTAAAAGTTGGGGGGGGGGCGTGGTGGTTAAAAGGTAAGAGTTATGATTTTATGGAGAAAAATGGAGCTTACTTTACATCCACCTATGTAACTGAGACAGCCCCTTGGTGTTTGAATTTTACATTTTTTCTCTCTTAATGTGGCTACAGTCAGCCTAGGATGTTCAGATAGAATGACTTGACCATGCAAAGAGTTGGCTGAGCTGATCACTGTTAAATTAGTAATTTCTAGGAAAGGTCAAGAAGCTCAGAAGAATGTTCTAAGTGTGTACACTGGGTAGGCATTATTGTTTTATATTATAGGAAGTATTATATTTCCTATATTATAATATATATTACAATATAGGAAAATATTTCTTATAATAGGAACCACTAACAGCATTTCAGATATGGTTCTTGCCCTCAAGGAGACCATAGCTAGCCTAGAAAAGACTACTCCCAAGGAGGAATTAGCCACACTAAAATCACATAGTGAAGCATTGAAGTCTATTGAGAATTCCAACGAGAGAATGCTGGAAGACAACATTTCATTAAATACGCATAGGAATGTGTTGGTCTACTAGTCTCCTAGAGCTGCCACAACAAGTCACCACAAACCAGGTGGTTTAAAACAACAGAAATTTATTCCCTCCTAGTTCTGGAGGCCAGAAGTCTGAAATCAAGGTGTGGGCAGGGCCATGCTCTCCCTGAAGGTTCTATGGCAGAATTCTTCCTTGCCCCTTCCTGGTTTCTGGTGGTTGCTGGCAATCCCTGGTGTCTTTGGCTTGTGGCTGCCTCCCTCCAATCTGTGCCTGTGTCTTCACACAGCCTTCTTCCCTGTGTGCATCTTTGTTTATTTACATGACCTTCTTATAAGGACATCAGTCATTGGATTTAGAGCCCACCCTAATCCAGTATGACATCATCTTAACTTGGTGACATCTGCAAAGACCCTATTTCTAGACCACATTCTGAGGTTCCCTGTAGACATGAACATCATGTCTGTGTGTGGTGGGGGACACTATTCACCTGAGTACCATTGGCAAGTGAGGTCAGGTTTTCAGAAAGTGAGCCAGTATTTTCAAGACTTGCCTTAGAAGGGATGAACCTCTAGTGAGAGCTGGTGGAGTGGTCATGCCAACTGGAAAAGTCACACTTCCAAAATGGCCCCACAAAGGCAGCTCAGGGGAAAGGAAAAAATAAAATGACACAGAGAAGAAAGTGGTTTCAAACGTAGGTGTCCTTGATTGAATGTTCTGGCTTCTTACTACCTAAAGGATCTGAGGAGCTGTCTCAGGATTGCTTGTGACATTAAAACCTTTTCTCCCATTTCACTTTGTCTCATGCAGCTGAAGGCCAATCTTGTGCCTCCGAAAGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGCTACTTCAGCCAGCACGACCTGTTCTCTTCCCCAGAGAAAAGATGGGCCTCTCCAAGAGTAGCCAGATTTGCCACATCCTGCCCACCCACGATCAAGGAGCTCTTTGTGGACTCTGGGCTTCTCCGCCCAATGGTGGAGGGACAGAGCCAACAGTTTTCTGTCTCAGAAAATCTTCTCAAAGAAGCCATCCGAGCAATTTTTCCCTCCCGAGGGCTGGCTCGTCTTGCCCTTCAGTTTACCACCAACCCAAAGAGACTCCAGCAAAACCTTTTTGGAGGGAAATTTTTGGTGAATGTTGGCCAGTTTAACTTGTCTGGAGCCCTTGGCACAAGAGGCACATTTAACTTCAGTCAATTTTTCCAGCAACTTGGTCTTGCAAGCTTCTTGAATGGAGGGAGACAAGAAGATTTGGCCAAGCCACTCTCTGTGGGATTAGATTCAAATTCTTCCACAGGAACCCCTGAAGCTGCTAAGAAGGATGGTACTATGAATAAGCCAACTGTGGGCAGCTTTGGCTTTGAAATTAACCTACAAGAGAACCAAAATGCCCTCAAATTCCTTGCTTCTCTCCTGGAGCTTCCAGAATTCCTTCTCTTCTTGCAACATGCTATCTCTGTGCCAGAAGATGTGGCAAGAGATTTAGGTGATGTGATGGAAACGGTACTCAGCTCCCAGACCTGTGAGCAGACACCTGAAAGGCTATTTGTCCCATCATGCACGACAGAAGGAAGCTATGAGGATGTCCAATGCTTTTCCGGAGAGTGCTGGTGTGTGAATTCCTGGGGCAAAGAGCTTCCAGGCTCAAGAGTCAGAGGTGGACAGCCAAGGTGCCCCACAGACTGTGAAAAGCAAAGGGCTCGCATGCAAAGCCTCATGGGCAGCCAGCCTGCTGGCTCCACCTTGTTTGTCCCTGCTTGTACTAGTGAGGGACATTTCCTGCCTGTCCAGTGCTTCAACTCAGAGTGCTACTGTGTTGATGCTGAGGGTCAGGCCATTCCTGGAACTCGAAGTGCAATAGGGAAGCCCAAGAAATGTAAGTCTGTTGGGTATTCAATCTGTAGGTTCCCTGAGTCTCTCTTTAGGCCCTGACCCAATGCAGTACAGTAATAGAAATCCACTCCTGGCCAATGCTTACACTTCAGTTAAGGACAAAATTGACTGCTTATATTAAAAATTATCCAGGAATGCCTAGATAATGTTAATCAGACCTAGGAGTAAATGGGGAGATTTGTCTGGCCTTAAAGAACTGCCACATTTCTGCAGTGCTGATCACCAACTGATGTCAATGGTGCTGATTTAGTCATGGGGCAATGCCTATCTAGATATTATTTACAAATTTAAGCTTCATGGTATTTCTATGGCTATATAAGGTTTTAGACGGAGTTTGGACAGTTAAGTGGTTTTATCTTGGTCTTTCCAGTTTGTTAAATTTCTTAAACTGAAACACCTGCTCATTGTTCCTCCCCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGGACGGTGCAGGCCCTGCTCTCTAACTCCAGCATGCTACCCACCCTTTCCGACACCTACATCCCACAGTGCAGCACCGATGGGCAGTGGAGACAAGTGCAATGCAATGGGCCTCCTGAGCAGGTCTTCGAGTTGTACCAACGATGGGAGGCTCAGAACAAGGGCCAGGATCTGACGCCTGCCAAGCTGCTAGTGAAGATCATGAGCTACAGAGAAGCAGCTTCCGGAAACTTCAGTCTCTTTATTCAAAGTCTGTATGAGGCTGGCCAGCAAGATGTCTTCCCGGTGCTGTCACAATACCCTTCTCTGCAAGATGTCCCACTAGCAGCACTGGAAGGGAAACGGCCCCAGCCCAGGGAGAATATCCTCCTGGAGCCCTACCTCTTCTGGCAGATCTTAAATGGCCAACTCAGCCAATACCCGGGGTCCTACTCAGACTTCAGCACTCCTTTGGCACATTTTGATCTTCGGAACTGCTGGTGTGTGGATGAGGCTGGCCAAGAACTGGAAGGAATGCGGTCTGAGCCAAGCAAGCTCCCAACATGTGAGCTAACGCATATGAAGAGTTAAATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTTTAACATATAAAAAAGGATGTCTAGTGGGAGGGTATTGAGTGTCAAAGCTGGAATGGAGTTTAGAGATGGCTGAGAAAACGAAGGCTCACAGAGGGGAAGGGACTTCCCTGTATCAACACAGTCAGGTGTTGGCAA | CCATCCAACTTCCAGGTGGAAATGAAGAACTATGGCTTTCCAAATTAAAGGCCATAAATGGCTCTATCAAGTGCATAGATAGATCATATATTTTCAATTTTTCTGTCTGGTATATCAGGTCCTATTTCTGTGGAAACAAATGCCACATGGAAACAGTAATTGAATTTCCTTGCTTTGGTAACACTACATAACAAATGGATGGAAAGAGAAAGGGTAAGCTCTTAATTTGGAAGAAGACTAAGCAAAGCAGTAAACTTTATTTCTGCCATACCTTCCTGTAATATCCATTAAAAGAGGCCATGGCCTCGTTGAGGGATGTTACGTGCTCTGATGCTGCCAATCTTTCCCCTCCCACCACATTTTCCAGTTCTTTCTCTGTTGCCTGGTTACAGAAGGAAATTGGCTGACTTTCTTTTTGGCATTTATGTGAATCAAGAGGAAAAAAATATTTTAAAAGTTGGGGGGGGGGCGTGGTGGTTAAAAGGTAAGAGTTATGATTTTATGGAGAAAAATGGAGCTTACTTTACATCCACCTATGTAACTGAGACAGCCCCTTGGTGTTTGAATTTTACATTTTTTCTCTCTTAATGTGGCTACAGTCAGCCTAGGATGTTCAGATAGAATGACTTGACCATGCAAAGAGTTGGCTGAGCTGATCACTGTTAAATTAGTAATTTCTAGGAAAGGTCAAGAAGCTCAGAAGAATGTTCTAAGTGTGTACACTGGGTAGGCATTATTGTTTTATATTATAGGAAGTATTATATTTCCTATATTATAATATATATTACAATATAGGAAAATATTTCTTATAATAGGAACCACTAACAGCATTTCAGATATGGTTCTTGCCCTCAAGGAGACCATAGCTAGCCTAGAAAAGACTACTCCCAAGGAGGAATTAGCCACACTAAAATCACATAGTGAAGCATTGAAGTCTATTGAGAATTCCAACGAGAGAATGCTGGAAGACAACATTTCATTAAATACGCATAGGAATGTGTTGGTCTACTAGTCTCCTAGAGCTGCCACAACAAGTCACCACAAACCAGGTGGTTTAAAACAACAGAAATTTATTCCCTCCTAGTTCTGGAGGCCAGAAGTCTGAAATCAAGGTGTGGGCAGGGCCATGCTCTCCCTGAAGGTTCTATGGCAGAATTCTTCCTTGCCCCTTCCTGGTTTCTGGTGGTTGCTGGCAATCCCTGGTGTCTTTGGCTTGTGGCTGCCTCCCTCCAATCTGTGCCTGTGTCTTCACACAGCCTTCTTCCCTGTGTGCATCTTTGTTTATTTACATGACCTTCTTATAAGGACATCAGTCATTGGATTTAGAGCCCACCCTAATCCAGTATGACATCATCTTAACTTGGTGACATCTGCAAAGACCCTATTTCTAGACCACATTCTGAGGTTCCCTGTAGACATGAACATCATGTCTGTGTGTGGTGGGGGACACTATTCACCTGAGTACCATTGGCAAGTGAGGTCAGGTTTTCAGAAAGTGAGCCAGTATTTTCAAGACTTGCCTTAGAAGGGATGAACCTCTAGTGAGAGCTGGTGGAGTGGTCATGCCAACTGGAAAAGTCACACTTCCAAAATGGCCCCACAAAGGCAGCTCAGGGGAAAGGAAAAAATAAAATGACACAGAGAAGAAAGTGGTTTCAAACGTAGGTGTCCTTGATTGAATGTTCTGGCTTCTTACTACCTAAAGGATCTGAGGAGCTGTCTCAGGATTGCTTGTGACATTAAAACCTTTTCTCCCATTTCACTTTGTCTCATGCAGCTGAAGGCCAATCTTGTGCCTCCGAAAGGCAGCAGGCCTTGTCCAGACTCTACTTTGGGACCTCAGGCTACTTCAGCCAGCACGACCTGTTCTCTTCCCCAGAGAAAAGATGGGCCTCTCCAAGAGTAGCCAGATTTGCCACATCCTGCCCACCCACGATCAAGGAGCTCTTTGTGGACTCTGGGCTTCTCCGCCCAATGGTGGAGGGACAGAGCCAACAGTTTTCTGTCTCAGAAAATCTTCTCAAAGAAGCCATCCGAGCAATTTTTCCCCCCGAGGGCTGGCTCGTCTTGCCCTTCAGTTTACCACCAACCCAAAGAGACTCCAGCAAAACCTTTTTGGAGGGAAATTTTTGGTGAATGTTGGCCAGTTTAACTTGTCTGGAGCCCTTGGCACAAGAGGCACATTTAACTTCAGTCAATTTTTCCAGCAACTTGGTCTTGCAAGCTTCTTGAATGGAGGGAGACAAGAAGATTTGGCCAAGCCACTCTCTGTGGGATTAGATTCAAATTCTTCCACAGGAACCCCTGAAGCTGCTAAGAAGGATGGTACTATGAATAAGCCAACTGTGGGCAGCTTTGGCTTTGAAATTAACCTACAAGAGAACCAAAATGCCCTCAAATTCCTTGCTTCTCTCCTGGAGCTTCCAGAATTCCTTCTCTTCTTGCAACATGCTATCTCTGTGCCAGAAGATGTGGCAAGAGATTTAGGTGATGTGATGGAAACGGTACTCAGCTCCCAGACCTGTGAGCAGACACCTGAAAGGCTATTTGTCCCATCATGCACGACAGAAGGAAGCTATGAGGATGTCCAATGCTTTTCCGGAGAGTGCTGGTGTGTGAATTCCTGGGGCAAAGAGCTTCCAGGCTCAAGAGTCAGAGGTGGACAGCCAAGGTGCCCCACAGACTGTGAAAAGCAAAGGGCTCGCATGCAAAGCCTCATGGGCAGCCAGCCTGCTGGCTCCACCTTGTTTGTCCCTGCTTGTACTAGTGAGGGACATTTCCTGCCTGTCCAGTGCTTCAACTCAGAGTGCTACTGTGTTGATGCTGAGGGTCAGGCCATTCCTGGAACTCGAAGTGCAATAGGGAAGCCCAAGAAATGTAAGTCTGTTGGGTATTCAATCTGTAGGTTCCCTGAGTCTCTCTTTAGGCCCTGACCCAATGCAGTACAGTAATAGAAATCCACTCCTGGCCAATGCTTACACTTCAGTTAAGGACAAAATTGACTGCTTATATTAAAAATTATCCAGGAATGCCTAGATAATGTTAATCAGACCTAGGAGTAAATGGGGAGATTTGTCTGGCCTTAAAGAACTGCCACATTTCTGCAGTGCTGATCACCAACTGATGTCAATGGTGCTGATTTAGTCATGGGGCAATGCCTATCTAGATATTATTTACAAATTTAAGCTTCATGGTATTTCTATGGCTATATAAGGTTTTAGACGGAGTTTGGACAGTTAAGTGGTTTTATCTTGGTCTTTCCAGTTTGTTAAATTTCTTAAACTGAAACACCTGCTCATTGTTCCTCCCCAGGCCCCACGCCCTGTCAATTACAGTCTGAGCAAGCTTTCCTCAGGACGGTGCAGGCCCTGCTCTCTAACTCCAGCATGCTACCCACCCTTTCCGACACCTACATCCCACAGTGCAGCACCGATGGGCAGTGGAGACAAGTGCAATGCAATGGGCCTCCTGAGCAGGTCTTCGAGTTGTACCAACGATGGGAGGCTCAGAACAAGGGCCAGGATCTGACGCCTGCCAAGCTGCTAGTGAAGATCATGAGCTACAGAGAAGCAGCTTCCGGAAACTTCAGTCTCTTTATTCAAAGTCTGTATGAGGCTGGCCAGCAAGATGTCTTCCCGGTGCTGTCACAATACCCTTCTCTGCAAGATGTCCCACTAGCAGCACTGGAAGGGAAACGGCCCCAGCCCAGGGAGAATATCCTCCTGGAGCCCTACCTCTTCTGGCAGATCTTAAATGGCCAACTCAGCCAATACCCGGGGTCCTACTCAGACTTCAGCACTCCTTTGGCACATTTTGATCTTCGGAACTGCTGGTGTGTGGATGAGGCTGGCCAAGAACTGGAAGGAATGCGGTCTGAGCCAAGCAAGCTCCCAACATGTGAGCTAACGCATATGAAGAGTTAAATGTGTGTGTGTGTGTGTGTGTGTGTGTATGTGTGTTTAACATATAAAAAAGGATGTCTAGTGGGAGGGTATTGAGTGTCAAAGCTGGAATGGAGTTTAGAGATGGCTGAGAAAACGAAGGCTCACAGAGGGGAAGGGACTTCCCTGTATCAACACAGTCAGGTGTTGGCAAN | pathogenic | 139,188 |
Chromosome 8, position 133017848, gene TG (thyroglobulin): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic | GATTTGTGATTGAGGCCAGATTAAAAAACAGCAACTGTTCCTTTCCAGCCTGAGTTTCCATTTTGAGTTCTAACTCATATTCCAATGTCTTTGCGACAGAGAAGGCTTCATTTGCTCTTTTTTTCCTCTTTCTCTTTTTTTCTCTCCCTGTGTCCCCCCACCCCTGCCAATTCCTTCCTTTTTTCCTTCCACTCATTCATTCATTTACTTATGTGTTGGACTTCTGCCATTTTTCAGGCACTGAGCTTGGAACATTACAGGTGTTATTATTTATTCCTGTTGTAGGAGATGCTATTGTTCCCATTTCATAGGCAGAAAGACTGTAAAGTTTTTCCAATAACTAGCTGTTCCATAAGCATAAAACCCAGATCTGCTTGACTCCTTAACCAATTCACCATGGTGACGCTCAGTGACCTGGAAGTCAAGGACAGACATGATACCCAGGCTTCTCAACCTCAGAACCCGCTGACATTTGGGGCTGGAGTATTCTTTGTTGTATATGTGTGGGAGCAGTGGTTGTCCTGCCTACTGTAGGATGTCTAACAACAGCCCTTGTCTCTCCCACCAGATGTCAGTGGCATCTCTCCCTGACCCCTGTGACAGCCAAAAATGTCTCCAGATGTGGCCAAATGTCCCCTGTGGGCAAAATTACTTCCAGTTGAGAACCTCTATATGATACAAAGCTCCTGCGGAGTAGATGGACTTCTGTCTGCAGGTCTATCTGCCTCCTCTCCCCACTGTCTTGTTTAGTCACCACTGCAATAGATACATATTTTTATAGAAGGATCTGCAGAGAAAGCAGAAAGGCTTTGTCTGTCAATCAGCCGAGAGTGGAGTTCAGCAGACCAAATCTACGTGTCAGAAATAAGAGACTTCTCACACACACTTGAAGTATCTCTCCATGAGTGTTTACCGCTTCCTTTGTGCAGGGCTTTGAGTCCTGTGTGGCATCAGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGCACTGAGCCTGGGCCCAACAAAAGTTTACCAGATCAATCAATGAATGAAAGAAAATGTCGTCGAGGAAACAAGATAGGGCTACAGAGAAACTGATGAACGTCGCTGGCGATTAGTGTTGCATGGAGCAGGGTGGGAGGCATGGCAGGCGGCACCAGTGTTGGCCTTGTGGACAAGGAGGGATTTGGACATGAAAAAATGGGCAGGAGGGCCTCACAAGCTGGGGCACCCAGGGCAACCTTGGCGCAGAGAGAGGCAAAGCTCTGAACTGGTCCCAACCCTTTGTGCATGGGGTGTGGTCAGAGCTGGGGTTGAGAAAGGTGTGGCTTTGAATCCTACATCACCCTATATCACCTGTGATCCTAGCAGGCCCTAGGCCTCCACCTCTACATCTCTTCCCTCACTAATGAGATGTAAATGTGGGCCTGCAACCCCTGCACTGCAATTCTGAAACCCAAAAGTCCTAAAAGTCTTTTTTTTTTTTTTTTGGTAAGTTTACAGCTAACTCATTTGGCAGCAAAATCTGACATGGGTGGCTGAAGAAATTCTATTCTTTACTCATCTCTCTCAGGATGAGTAACCCACACATCTCACCACAGAAATGTTGGCTGTGTTTAAAGGTGGGGCTGCACTCCAGACCTCCCCAGGGGATTGGGTGTTGTTTGCTGTTTGCTTCTCTGTTCTTTCAAAAGGCCCCAGGGTGCTGGTAAAGGGTCCTGGGCCTGGATCCATGTATAGAAGGGATTAGCATTGCATTCTGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAATGATTGACATTTTCAAGGTGCAAAAACCGTGATTTTTCTTTTGTTGAAAGCACATTCAGAATGCCAGTGGAGAGAGCACTCACTGAGGCCTCTCCCCTTCCTCACCCCTTTCTCTTCCCTTTCCCAACAGGAATCTCTCTGCTCAGCTATGAGGCATCTGTACCTTCTGTGCCCATTTCCACCCATGGCCGGCTGCTGGGCAGGTCCCAGGCCATCCAGGTGGGTACCTCATGGAAGCAAGTGGACCAGTTCCTTGGAGTTCCATATGCTGCCCCGCCCCTGGCAGAGAGGCGCTTCCAGGCACCAGAGCCCTTGAACTGGACAGGCTCCTGGGATGCCAGCAAGCCAAGGTATGGGTTGAGTGGAGCACATCTTGGTAAATGCTCAGAGAAATCTCCTCCATTCTAATCTATCCAAATGGGACTCAGTAGCAGAGCAGTGCATTTTGGATAAAGCAATGTATGGAGGATGGAATATATTAGCTAAGATATCATTAAGTGCTGTGACAGATAAACTCCTAAGTAACAGTGGCTTAACACTGTTTTGCTCATGTAAAGCCCATCAGGTGATGGAGGGGCCTGTATGCTCTGCTCCATGCAGTGATTCAGGGACGCAGGCTGATGGAGGCTCTGCCTTCTTCAGCATGAATCTTCCAAGGTCCCCTGGACATTGATCCAGGAAGAGAGGCTGTGAAATAATTGACAGGAGAGGTTCCCATAGAATAAGCCTGGAAGTGGGGTTCACACATCACTGGCACCGCTATTGCAGTGGCCAAGCTCAGCTTCCTGGCCATATCTGATCTTAATGAAGCTGGGAGACACAGCATTGAAGGGAAAGTAAATGAGCTAATGAAATTTTTCCCACTAGGAAAAAAATTACAAGTTTTTTTTTTTTTTAGGGCACCCATATCCTATCTTCTTTCCTCATCAAAAATTTCATTTTTTCCTCTTTTCCATGTGTATACCACTTTAAATAGCAAGCATATTGAAGAACAATATTGTGATTTTTTTCTAATTAAAGCATACTCGGAGTATCTGTGAAAACAGCACTTATTACTGCTGCTCTTCTCCTTCCCAACTGAATCTCCTTCCCAACAGGTACCCCATGGCTCTATCCTCAGGCAGCTGCAACCTCCATACCCATTATCACCATGGCTGGCTGCTAAGCAGGTCCATGGGCCCATTACTAGATAGAGTGATGAGCTAGGAGGCTCTTAAAGTACTCCAGGAAAAGGGTGATAAGGGCTTCAGCTAGGATGGTGGCAGTCGGAGTGGAAAGGCATGGATTTCCATCTGCTCCACTGCTGGGAAACAAAAATAACAAATATGCGTGAATTAAAGTGCCTTACCATGTTAGGATGTACCCATTTGACAGATGAAATGACGGAGTCACATAGGTTTGAGTGGAGAGTAGTTGAGAGCTTGGGTCATTGTAGTCCAGGGCTAGTAAGGATTAGGTGATGAGCCAAGTCACCCATTGGGTAGATGACCATTGCGCTGCCATTAGTCATAGTCACAGCTGTAGTCAGCTCTCATACTGGGAGTTGCTCAAACCAGCACTGTAGGACTCTGTACTGGTGTAGAAAGCAGGTAGGACACCCCCTCCAGAGGAGAGTCTGCACTCTTGGAGCAAAGAAGGGCCAAGGTCCTGAGTGGCTTTCATTGTCTTCTTCTCTATCTCAAGCTGTTGCATCAGCAGACTTCTCTAAGTTGGTGCATTGTCTCTGGGGAATGTTCTTCCACAGGCCAGTGGCCAGAGAGCGGTGGGCACTCTGTCATTCCCTCCATTCACTGAAGCTGAATCTTTCCACTCCCATTTCCTGAAGCTGCCTAATTTCTGCAGAGCTGGTGGGATGCCAGGCTTTGGAATGGGGTAGTGGGCTCTGACCATGGTGGTGGGTGGGGAGGGGTGGTGATGGAGCATGTCTTGGAAGTCACCCAGTCTGTATCTGCAGGGCCAGCTGCTGGCAGCCAGGCACCAGAACATCCACGTCTCCTGGAGTCAGTGAAGATTGTTTGTATCTCAATGTGTTCATCCCTCAGAATGTGGTGAGTTCAAAAGCACTTGCTATGGTTGCCCTGAAGACTGTCCCATTAGAAATCCACTGTCCCCACTGTGGCCAGCACAGTTCAGTCTCCTCCTCTGTGGCCTGCTGAGCTGAGGTTAGGTGATTTGCCTAAGGACACTCAGTTAGTGAGTGATCTGTGGACTTGGTCAGTTGGTCCTCAGAGCTTGTGGCTAGAACCAG | GATTTGTGATTGAGGCCAGATTAAAAAACAGCAACTGTTCCTTTCCAGCCTGAGTTTCCATTTTGAGTTCTAACTCATATTCCAATGTCTTTGCGACAGAGAAGGCTTCATTTGCTCTTTTTTTCCTCTTTCTCTTTTTTTCTCTCCCTGTGTCCCCCCACCCCTGCCAATTCCTTCCTTTTTTCCTTCCACTCATTCATTCATTTACTTATGTGTTGGACTTCTGCCATTTTTCAGGCACTGAGCTTGGAACATTACAGGTGTTATTATTTATTCCTGTTGTAGGAGATGCTATTGTTCCCATTTCATAGGCAGAAAGACTGTAAAGTTTTTCCAATAACTAGCTGTTCCATAAGCATAAAACCCAGATCTGCTTGACTCCTTAACCAATTCACCATGGTGACGCTCAGTGACCTGGAAGTCAAGGACAGACATGATACCCAGGCTTCTCAACCTCAGAACCCGCTGACATTTGGGGCTGGAGTATTCTTTGTTGTATATGTGTGGGAGCAGTGGTTGTCCTGCCTACTGTAGGATGTCTAACAACAGCCCTTGTCTCTCCCACCAGATGTCAGTGGCATCTCTCCCTGACCCCTGTGACAGCCAAAAATGTCTCCAGATGTGGCCAAATGTCCCCTGTGGGCAAAATTACTTCCAGTTGAGAACCTCTATATGATACAAAGCTCCTGCGGAGTAGATGGACTTCTGTCTGCAGGTCTATCTGCCTCCTCTCCCCACTGTCTTGTTTAGTCACCACTGCAATAGATACATATTTTTATAGAAGGATCTGCAGAGAAAGCAGAAAGGCTTTGTCTGTCAATCAGCCGAGAGTGGAGTTCAGCAGACCAAATCTACGTGTCAGAAATAAGAGACTTCTCACACACACTTGAAGTATCTCTCCATGAGTGTTTACCGCTTCCTTTGTGCAGGGCTTTGAGTCCTGTGTGGCATCAGACAGGCCTGTCTTAAGTTCCTGAAAACAGTACTTGGCACTGAGCCTGGGCCCAACAAAAGTTTACCAGATCAATCAATGAATGAAAGAAAATGTCGTCGAGGAAACAAGATAGGGCTACAGAGAAACTGATGAACGTCGCTGGCGATTAGTGTTGCATGGAGCAGGGTGGGAGGCATGGCAGGCGGCACCAGTGTTGGCCTTGTGGACAAGGAGGGATTTGGACATGAAAAAATGGGCAGGAGGGCCTCACAAGCTGGGGCACCCAGGGCAACCTTGGCGCAGAGAGAGGCAAAGCTCTGAACTGGTCCCAACCCTTTGTGCATGGGGTGTGGTCAGAGCTGGGGTTGAGAAAGGTGTGGCTTTGAATCCTACATCACCCTATATCACCTGTGATCCTAGCAGGCCCTAGGCCTCCACCTCTACATCTCTTCCCTCACTAATGAGATGTAAATGTGGGCCTGCAACCCCTGCACTGCAATTCTGAAACCCAAAAGTCCTAAAAGTCTTTTTTTTTTTTTTTTGGTAAGTTTACAGCTAACTCATTTGGCAGCAAAATCTGACATGGGTGGCTGAAGAAATTCTATTCTTTACTCATCTCTCTCAGGATGAGTAACCCACACATCTCACCACAGAAATGTTGGCTGTGTTTAAAGGTGGGGCTGCACTCCAGACCTCCCCAGGGGATTGGGTGTTGTTTGCTGTTTGCTTCTCTGTTCTTTCAAAAGGCCCCAGGGTGCTGGTAAAGGGTCCTGGGCCTGGATCCATGTATAGAAGGGATTAGCATTGCATTCTGTGCATTTTGGTGCCTAATAAAGATCAGCTGTTTTTGCCATTTTTTTTGTTTGTTTACATTGAAAACCTGACTACATTTAAGCTGTAGGGGTCTGAATGAATGATTGACATTTTCAAGGTGCAAAAACCGTGATTTTTCTTTTGTTGAAAGCACATTCAGAATGCCAGTGGAGAGAGCACTCACTGAGGCCTCTCCCCTTCCTCACCCCTTTCTCTTCCCTTTCCCAACAGGAATCTCTCTGCTCAGCTATGAGGCATCTGTACCTTCTGTGCCCATTTCCACCCATGGCCGGCTGCTGGGCAGGTAGGTCCCAGGCCATCCAGGTGGGTACCTCATGGAAGCAAGTGGACCAGTTCCTTGGAGTTCCATATGCTGCCCCGCCCCTGGCAGAGAGGCGCTTCCAGGCACCAGAGCCCTTGAACTGGACAGGCTCCTGGGATGCCAGCAAGCCAAGGTATGGGTTGAGTGGAGCACATCTTGGTAAATGCTCAGAGAAATCTCCTCCATTCTAATCTATCCAAATGGGACTCAGTAGCAGAGCAGTGCATTTTGGATAAAGCAATGTATGGAGGATGGAATATATTAGCTAAGATATCATTAAGTGCTGTGACAGATAAACTCCTAAGTAACAGTGGCTTAACACTGTTTTGCTCATGTAAAGCCCATCAGGTGATGGAGGGGCCTGTATGCTCTGCTCCATGCAGTGATTCAGGGACGCAGGCTGATGGAGGCTCTGCCTTCTTCAGCATGAATCTTCCAAGGTCCCCTGGACATTGATCCAGGAAGAGAGGCTGTGAAATAATTGACAGGAGAGGTTCCCATAGAATAAGCCTGGAAGTGGGGTTCACACATCACTGGCACCGCTATTGCAGTGGCCAAGCTCAGCTTCCTGGCCATATCTGATCTTAATGAAGCTGGGAGACACAGCATTGAAGGGAAAGTAAATGAGCTAATGAAATTTTTCCCACTAGGAAAAAAATTACAAGTTTTTTTTTTTTTTAGGGCACCCATATCCTATCTTCTTTCCTCATCAAAAATTTCATTTTTTCCTCTTTTCCATGTGTATACCACTTTAAATAGCAAGCATATTGAAGAACAATATTGTGATTTTTTTCTAATTAAAGCATACTCGGAGTATCTGTGAAAACAGCACTTATTACTGCTGCTCTTCTCCTTCCCAACTGAATCTCCTTCCCAACAGGTACCCCATGGCTCTATCCTCAGGCAGCTGCAACCTCCATACCCATTATCACCATGGCTGGCTGCTAAGCAGGTCCATGGGCCCATTACTAGATAGAGTGATGAGCTAGGAGGCTCTTAAAGTACTCCAGGAAAAGGGTGATAAGGGCTTCAGCTAGGATGGTGGCAGTCGGAGTGGAAAGGCATGGATTTCCATCTGCTCCACTGCTGGGAAACAAAAATAACAAATATGCGTGAATTAAAGTGCCTTACCATGTTAGGATGTACCCATTTGACAGATGAAATGACGGAGTCACATAGGTTTGAGTGGAGAGTAGTTGAGAGCTTGGGTCATTGTAGTCCAGGGCTAGTAAGGATTAGGTGATGAGCCAAGTCACCCATTGGGTAGATGACCATTGCGCTGCCATTAGTCATAGTCACAGCTGTAGTCAGCTCTCATACTGGGAGTTGCTCAAACCAGCACTGTAGGACTCTGTACTGGTGTAGAAAGCAGGTAGGACACCCCCTCCAGAGGAGAGTCTGCACTCTTGGAGCAAAGAAGGGCCAAGGTCCTGAGTGGCTTTCATTGTCTTCTTCTCTATCTCAAGCTGTTGCATCAGCAGACTTCTCTAAGTTGGTGCATTGTCTCTGGGGAATGTTCTTCCACAGGCCAGTGGCCAGAGAGCGGTGGGCACTCTGTCATTCCCTCCATTCACTGAAGCTGAATCTTTCCACTCCCATTTCCTGAAGCTGCCTAATTTCTGCAGAGCTGGTGGGATGCCAGGCTTTGGAATGGGGTAGTGGGCTCTGACCATGGTGGTGGGTGGGGAGGGGTGGTGATGGAGCATGTCTTGGAAGTCACCCAGTCTGTATCTGCAGGGCCAGCTGCTGGCAGCCAGGCACCAGAACATCCACGTCTCCTGGAGTCAGTGAAGATTGTTTGTATCTCAATGTGTTCATCCCTCAGAATGTGGTGAGTTCAAAAGCACTTGCTATGGTTGCCCTGAAGACTGTCCCATTAGAAATCCACTGTCCCCACTGTGGCCAGCACAGTTCAGTCTCCTCCTCTGTGGCCTGCTGAGCTGAGGTTAGGTGATTTGCCTAAGGACACTCAGTTAGTGAGTGATCTGTGGACTTGGTCAGTTGGTCCTCAGAGCTTGTGGCTAGAA | pathogenic | 139,284 |
Does the variant impacting NDRG1 (N-myc downstream regulated 1) on chromosome 8, position 133238956, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCTTGAGATAAATGAAATGTATTATTAAAATTAATTTCATCTGTTTCTTTCCACTTTTGAAAATGTGGCCACTGGGAAATTAGAATTAACATATGAGCTGACTTAAATTTCTGCTGGACGTGATGCTCCGAGGAAAGAATTCCAGAGATGAGGGGCTGGGGTCCCCTAGGTGTCAAGGACGGGCAACCCCCCAGTGAAACAGCCATCCCTGCACTGCAATGTTTCACACACACAATCTCTCAGGGACAGAAAAAAGACACAAGCCGCTGCAAAGTTACAAATTTATTGGTCTGGAAATAAATACAAATATCTCATTAAGAAACTCCTCTGGAAAGACTTGTGCACAATAGTTTCCCATCCGTACTCAGCCTCTCTTGCCCCGATCCCCGACTTTTCTACTCAAGGCCAGGGAAGGCCTCCAAGGTGATGGGCGGCAGGTAACGAGTCATTGCCTCTCACGCCACCTGGAAGGCTGGACTACTTCCTCCTCCCAACTGCGGGGTCCCAGAAATCCTCGGGTCCCAGTGGCTGACTTACAATATTCAATTCACTCTGACCAAACTTCCTATGAGAAAATCCACGGTGAGCCAAAATGAAAAGTACAAGGCAGTAGTACAGGAACCTGGCAGCCGCACTGGCCGCCCAGAAACGTCAGTGGTGCTGCCCCATTCGGCGAAAGGTTAGGGAGCAGGAAAAGAGGAAGCAGGAGAGGGAAGGAAAGTCCCATGGAATATGTATTCCAGAATCCTTACATTTTCTCAGCCACCGCTCCCCACGTGAGTTCCCACCCCCACCCCGACAAGAGCAAAGAGTTCTGAGGATCCAAGAACGTGACCGGGTCAGACAGGTTCAGCTACTGAGTTCACGTTCCAGCCCAGCTGTCGAAGATTGAAAACTGGATTTAAGCCAATCACACAAAATTCCTGGAACCAAGCTGGGATCCACAGAAATCACAACTGCACTGGATCTCAACACAACAACAAGGAATCCCTTACATCGAGTAACCCCAATTCCACCCCCACCCCAGTGCTCCTACTCCGGCCCCTGCAAGGACACTCATCACAGCCAGGGCAGCTGTGGAATGTTGCCCTCCATTCTAAGGAATGCAAAACAAATCTAAATGATCTTCTCCCTGAACAAGAATAATCACTGGCTCATGTATCAGGGGTGGGAGGTTGGGGCTGTGGAGGAGAGGCAGAAAGCAGAACTAAAGCCTTCAAAAACCATGATGCCCAACGTTTGCTGAAATATTTTTGTCTGTAAAGCCAGGAGATTTTGTCGCCTGCTTTTGCTGCACATTAAGAGGATGCTAGAAAAATCAAGCTTGTTTGCTTCTGCATTCAAAGCTTTCTAGATGCACCAACTTTAAAAATCGGTTTCTTCAAGTTAACTACGTAGATTTGTTGTTCCAAATGCCTCTAGCCTCGACATGAATCCCACCTTTTCCCCCTTCCTGTTTTGCCTGTTTAAAAGAGGTGCCTGCATGTCACTATTACCCCCCTCCCCAAATGAGAAAAGGATTTTGTTTCCGGAAACTGGATCAGCTTCTCCTCAGTTAAAGAGGAAACGGGAAGTGGGCGGCTGGCCTTCTGACCAGGCACCCGTTTGAACCAGGATGCTCAGGGCGGCCTAGGCTTGGCTTTGTGAAGTGTGTGCTGCTACGCGTCTTGTTTTTGGCAGTTTGGTGTCTCTGAGGGAGGGGAGGAGAGTGGCAACCGGCCACTGGTTAATGGAAGAGGATGCGATGCGGAGATGCTTGCTTCCTTCCTTTGGTCCACCGCCACCCCGCCTTTGGAGAGGGCACCCACGTAATAGACCTCATTTGTCTCCACCAGAGCTCACTCTTACAAAATAAGCTTTGGATTAATACCGAGTTAGGCGCAGTATGGCAGGCAGGGGGCGAAAAGGGGCCGGGGAGGAGGGGGCCACTACAGAGATCAGAGTCCGGGGGCGGCAGCTGGGCAGGCCGCCTAGCAGGAGACCTCCATGGACTTGGGCCCGGCGCTGTTCCCAGCAGCACCCGAGTTGGGGGTGATGTCCAGGTGGGCCCCCTCGCTGGTGTGCGAGCGGCTGCGGGTGCCCTCGCTGGTGTGGGAGCGGCTTCGGGTGCCCTCGCTGGTGTGGGAGCGGCTGCGGGTGCCATCCAGAGAAGTGACGCTGGAACCAGAGGCTGTGCGGGACCGCATCAGGCGGGTCATGCTAGCCGAGGGCACTAGGGGAACAAGAGACAGCCGGTTAGAGGGCAGGAGACTGCCAGGTGAGGAGCCAGGCATGCCCGTCCACCAGCCACATGCTCTTCTACGTGCCAGCCCCAGAGAAGACTTGATCCCTGCAGCCATCCAGCTGCTGGGCCCCCGTCCTCTCCATGTCCACTCGGAGAGAGAGATGGCAAGGCCCAGATGCGGGAAGGAACTGCCGCAATCACACCATGAGTGACTTGAACCCAGATCTGGGTCTGAACCCCAATTCTGCCACCTGTTAAAAGCTGTGTAATTTTGAGAGTGTCCCCCTGAGCCTCCCTGTTCCCATCTGTAAAGCAAGTATGTTAAATACTGACCCCTGGTATCAGCACCTGTGTGTACGCCCATGACCCCATGCTGTCCATGATCACTGGAGCAGGGAGGACACCTGGGGTCAGTGGCCCTGCACATCACAGGTGGGGAAAGGGAGAGGGGCCACACGGCAAGTTCCCGGCATGGCTATTCGTTGTCATCTCTCCCAAAGAAGCCTGTCAGCCCAGGTGCTAACAAGGGCGCTGTCTATTCTTTGGGATCTTCTCTGAGACCTCAAATGCTCTTGCACATGGCACGTGCAAGTGGCACATGCTGATGGGGTAGCACGTGCTGATGGGGTGGAATGAGGAGGAACAATCCTGCCCACCTGTACCGGGTGGGACAGTGTCCCGGAAGATTCACACCTACCTGAAACTTCAGAAGGGAACCTTATTTGGAAATAGGGTCTTTGCATATGTAATTAGTTAAGGATCTTGAGATGAAATCATCCTGGGTTGAGAGGGAACCCTAAACCCAATGACTGTGATGTCCTTATAGAAACAGCACACAGGGATATGCAGGGGAGAAGTCCACGCAAAGACAGAGGCTGAGATTGGAGTGATGCAGCCACAAGCCACATAAAGCCAAGGATTGCTGGGGCCACCAGAAGCCAGGAAGAGGCATGGAAGGTTCTTCCACAGCAGCGTTGGAGGGAGCAAGGCCCTGCCCACACCTTGATTTTGGACTTTAGGCCTCCTGAACTTTGAGAGAATGGATTTCTATTGTTTTCAGCCACCCAGTTTGTGGAGATTTGTTACGGCAGCTTTAGGAAACTAGTACTCCACCCAACTGAAGCATCATGGCTAGGAGGCCACACTGAGTCAGACATCAGAAACAGGGGCAGTTGATCCACACCAAGCATGCAGGGCTTATGTTATCTCCTTGATAGGCACAGGGAGGGGCTTTTGATGTCAGGCACTCCCAAACAGAATTAATCCTTGCTGAATTGTCTTAAAGAGCTAGTTTTGAATTCAGAAAGAATTGGGGTCAATGCCACATCCGCAGCTCACATATTTCTCTGAGCCCCTACTTCTCACCCACAAATCTGGGATGTCTACTGAGCAGGATGAGAAGCGTACAGTGAGCACTGATGCCAGGTGTGCAAAGGGTTCATCAAGCCAGCACCCCGTGGTGTGCAGAAGGCCAGTGACCGGTTCCTTTCCTTCTCTTTGGCTGATGCCTTTGAGACCATAGCTCTTCCTGTTATTTTCCCCCCAAGACCTGCAGGAGGCTTCAGCTTTCTGGTAATAGAAGCCGATTTGGGGAGAAAGATGAGGTCTAGCATTCACTTCCTTTCTCTCCAGAACACACTCTCAAAGCAGAAATCCAAACCCTGGCGGGACCAAGACAAATGGGAGCCACAATTCACACCGTGCAGGGTAAAGCAGGACTGCCCCGCGGCTGTCTCCATGGCTGTCTCCAATGACAACCTTTGCCTGCAACTTCCGTCGGGGAAAGCAGGCTAGAAAGGCAGGAGCCCCACTAGCAGATAGCTTCTGTTGGAAGAGGGCACCTGGGGATGTGGATCCTGCCTGAGCCTGAGG | TCTTGAGATAAATGAAATGTATTATTAAAATTAATTTCATCTGTTTCTTTCCACTTTTGAAAATGTGGCCACTGGGAAATTAGAATTAACATATGAGCTGACTTAAATTTCTGCTGGACGTGATGCTCCGAGGAAAGAATTCCAGAGATGAGGGGCTGGGGTCCCCTAGGTGTCAAGGACGGGCAACCCCCCAGTGAAACAGCCATCCCTGCACTGCAATGTTTCACACACACAATCTCTCAGGGACAGAAAAAAGACACAAGCCGCTGCAAAGTTACAAATTTATTGGTCTGGAAATAAATACAAATATCTCATTAAGAAACTCCTCTGGAAAGACTTGTGCACAATAGTTTCCCATCCGTACTCAGCCTCTCTTGCCCCGATCCCCGACTTTTCTACTCAAGGCCAGGGAAGGCCTCCAAGGTGATGGGCGGCAGGTAACGAGTCATTGCCTCTCACGCCACCTGGAAGGCTGGACTACTTCCTCCTCCCAACTGCGGGGTCCCAGAAATCCTCGGGTCCCAGTGGCTGACTTACAATATTCAATTCACTCTGACCAAACTTCCTATGAGAAAATCCACGGTGAGCCAAAATGAAAAGTACAAGGCAGTAGTACAGGAACCTGGCAGCCGCACTGGCCGCCCAGAAACGTCAGTGGTGCTGCCCCATTCGGCGAAAGGTTAGGGAGCAGGAAAAGAGGAAGCAGGAGAGGGAAGGAAAGTCCCATGGAATATGTATTCCAGAATCCTTACATTTTCTCAGCCACCGCTCCCCACGTGAGTTCCCACCCCCACCCCGACAAGAGCAAAGAGTTCTGAGGATCCAAGAACGTGACCGGGTCAGACAGGTTCAGCTACTGAGTTCACGTTCCAGCCCAGCTGTCGAAGATTGAAAACTGGATTTAAGCCAATCACACAAAATTCCTGGAACCAAGCTGGGATCCACAGAAATCACAACTGCACTGGATCTCAACACAACAACAAGGAATCCCTTACATCGAGTAACCCCAATTCCACCCCCACCCCAGTGCTCCTACTCCGGCCCCTGCAAGGACACTCATCACAGCCAGGGCAGCTGTGGAATGTTGCCCTCCATTCTAAGGAATGCAAAACAAATCTAAATGATCTTCTCCCTGAACAAGAATAATCACTGGCTCATGTATCAGGGGTGGGAGGTTGGGGCTGTGGAGGAGAGGCAGAAAGCAGAACTAAAGCCTTCAAAAACCATGATGCCCAACGTTTGCTGAAATATTTTTGTCTGTAAAGCCAGGAGATTTTGTCGCCTGCTTTTGCTGCACATTAAGAGGATGCTAGAAAAATCAAGCTTGTTTGCTTCTGCATTCAAAGCTTTCTAGATGCACCAACTTTAAAAATCGGTTTCTTCAAGTTAACTACGTAGATTTGTTGTTCCAAATGCCTCTAGCCTCGACATGAATCCCACCTTTTCCCCCTTCCTGTTTTGCCTGTTTAAAAGAGGTGCCTGCATGTCACTATTACCCCCCTCCCCAAATGAGAAAAGGATTTTGTTTCCGGAAACTGGATCAGCTTCTCCTCAGTTAAAGAGGAAACGGGAAGTGGGCGGCTGGCCTTCTGACCAGGCACCCGTTTGAACCAGGATGCTCAGGGCGGCCTAGGCTTGGCTTTGTGAAGTGTGTGCTGCTACGCGTCTTGTTTTTGGCAGTTTGGTGTCTCTGAGGGAGGGGAGGAGAGTGGCAACCGGCCACTGGTTAATGGAAGAGGATGCGATGCGGAGATGCTTGCTTCCTTCCTTTGGTCCACCGCCACCCCGCCTTTGGAGAGGGCACCCACGTAATAGACCTCATTTGTCTCCACCAGAGCTCACTCTTACAAAATAAGCTTTGGATTAATACCGAGTTAGGCGCAGTATGGCAGGCAGGGGGCGAAAAGGGGCCGGGGAGGAGGGGGCCACTACAGAGATCAGAGTCCGGGGGCGGCAGCTGGGCAGGCCGCCTAGCAGGAGACCTCCATGGACTTGGGCCCGGCGCTGTTCCCAGCAGCACCCGAGTTGGGGGTGATGTCCAGGTGGGCCCCCTCGCTGGTGTGCGAGCGGCTGCGGGTGCCCTCGCTGGTGTGCGAGCGGCTGCGGGTGCCCTCGCTGGTGTGGGAGCGGCTTCGGGTGCCCTCGCTGGTGTGGGAGCGGCTGCGGGTGCCATCCAGAGAAGTGACGCTGGAACCAGAGGCTGTGCGGGACCGCATCAGGCGGGTCATGCTAGCCGAGGGCACTAGGGGAACAAGAGACAGCCGGTTAGAGGGCAGGAGACTGCCAGGTGAGGAGCCAGGCATGCCCGTCCACCAGCCACATGCTCTTCTACGTGCCAGCCCCAGAGAAGACTTGATCCCTGCAGCCATCCAGCTGCTGGGCCCCCGTCCTCTCCATGTCCACTCGGAGAGAGAGATGGCAAGGCCCAGATGCGGGAAGGAACTGCCGCAATCACACCATGAGTGACTTGAACCCAGATCTGGGTCTGAACCCCAATTCTGCCACCTGTTAAAAGCTGTGTAATTTTGAGAGTGTCCCCCTGAGCCTCCCTGTTCCCATCTGTAAAGCAAGTATGTTAAATACTGACCCCTGGTATCAGCACCTGTGTGTACGCCCATGACCCCATGCTGTCCATGATCACTGGAGCAGGGAGGACACCTGGGGTCAGTGGCCCTGCACATCACAGGTGGGGAAAGGGAGAGGGGCCACACGGCAAGTTCCCGGCATGGCTATTCGTTGTCATCTCTCCCAAAGAAGCCTGTCAGCCCAGGTGCTAACAAGGGCGCTGTCTATTCTTTGGGATCTTCTCTGAGACCTCAAATGCTCTTGCACATGGCACGTGCAAGTGGCACATGCTGATGGGGTAGCACGTGCTGATGGGGTGGAATGAGGAGGAACAATCCTGCCCACCTGTACCGGGTGGGACAGTGTCCCGGAAGATTCACACCTACCTGAAACTTCAGAAGGGAACCTTATTTGGAAATAGGGTCTTTGCATATGTAATTAGTTAAGGATCTTGAGATGAAATCATCCTGGGTTGAGAGGGAACCCTAAACCCAATGACTGTGATGTCCTTATAGAAACAGCACACAGGGATATGCAGGGGAGAAGTCCACGCAAAGACAGAGGCTGAGATTGGAGTGATGCAGCCACAAGCCACATAAAGCCAAGGATTGCTGGGGCCACCAGAAGCCAGGAAGAGGCATGGAAGGTTCTTCCACAGCAGCGTTGGAGGGAGCAAGGCCCTGCCCACACCTTGATTTTGGACTTTAGGCCTCCTGAACTTTGAGAGAATGGATTTCTATTGTTTTCAGCCACCCAGTTTGTGGAGATTTGTTACGGCAGCTTTAGGAAACTAGTACTCCACCCAACTGAAGCATCATGGCTAGGAGGCCACACTGAGTCAGACATCAGAAACAGGGGCAGTTGATCCACACCAAGCATGCAGGGCTTATGTTATCTCCTTGATAGGCACAGGGAGGGGCTTTTGATGTCAGGCACTCCCAAACAGAATTAATCCTTGCTGAATTGTCTTAAAGAGCTAGTTTTGAATTCAGAAAGAATTGGGGTCAATGCCACATCCGCAGCTCACATATTTCTCTGAGCCCCTACTTCTCACCCACAAATCTGGGATGTCTACTGAGCAGGATGAGAAGCGTACAGTGAGCACTGATGCCAGGTGTGCAAAGGGTTCATCAAGCCAGCACCCCGTGGTGTGCAGAAGGCCAGTGACCGGTTCCTTTCCTTCTCTTTGGCTGATGCCTTTGAGACCATAGCTCTTCCTGTTATTTTCCCCCCAAGACCTGCAGGAGGCTTCAGCTTTCTGGTAATAGAAGCCGATTTGGGGAGAAAGATGAGGTCTAGCATTCACTTCCTTTCTCTCCAGAACACACTCTCAAAGCAGAAATCCAAACCCTGGCGGGACCAAGACAAATGGGAGCCACAATTCACACCGTGCAGGGTAAAGCAGGACTGCCCCGCGGCTGTCTCCATGGCTGTCTCCAATGACAACCTTTGCCTGCAACTTCCGTCGGGGAAAGCAGGCTAGAAAGGCAGGAGCCCCACTAGCAGATAGCTTCTGTTGGAAGAGGGCACC | benign | 139,326 |
Is the genetic change at chromosome 8, position 133250456, within gene NDRG1 (N-myc downstream regulated 1) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Charcot-Marie-Tooth_disease', 'Charcot-Marie-Tooth_disease_type_4D'] | CTTCATGGAGCAAAGCCTCACACAGTTATTGATGTAGTAGGTGCTTAATAAATGCTGTCCCAAGTACAATCAACCATCCTTCTCCAAGATCAAAGGCCTAGGTCATGGGGACACCCTAGAAACGGATGCCACCGGCACAGGGAGAAGTCCAAGTCAGGCTGGGTAATGCTCAGTCTCTGGGTGGAATATATCCAGGTCTCACTGACACAATGTCCTGCCACACTCAGAAAGAAGGCCCTGCCAGCAAGGCCACCTTTATAGTGGGCAGCCCCGACTGCAAGTGCTGGGGGAGAGAAAAGCCACTCACTGCAGGGTGACTGTGTGGGTTCCCGGCATTGGTCGCTCAATCTCCAGGTCGCGCCGGCTGCAGGAAACAAATGCATCATTAGCATGAGGACCCCTCCCCTGGAGAAATCTCCCACTCCCATCCAGCCAAGCCCAGGAGGTCCTGCCAGTGGCCATTCTGGTAAGCTACCCACATCCCCAACTTGAGAGAGGCCCTGTGGCTTTCAGGACTCCACACCCTCTTGGTGTCCACAGACCTGGTTAGAGGGACAGCACAACACATGCATTTCAAGCAGAGCCCCCTCATTTTGTCACAAATATTTGTGGGGCTTTTTTTTCCAGGAGTAGAAGTCAGATTCTCCACCATAGAGGGTCCCCGCCTTCCCTGTCCCCCTAGTCAGAGCCCCCACCTGACAGAGGGGCCACCTCCCAAATGCTCTCGCAGCCTCTTAGTTTAAGTCCCAGCCTCACCAACTCTGAGTCCTCTATAAAGCACCCAAATGATCTCTTTAAAACTCAGGCCTCATCTTTCCATTCCCTGTCTCAAACCCTGTGGTGGTTTCCCACTGCACTCGTGTGAGGCCCAGTGTGGGTCCAGCCCAGTGCCGACCACCTTTCCTGCACGCAGCCACCCACCCTCTCTGCTATCTTGCAGCTCCCAACATGAGAAGCTCTTTCCCAGCTCACAGCCTGGAGTTAGACAAGCAGGATCCAAATCATGCTCTGCCACTTTCTAGCTGTGTGGCCTTGGGGAGAACACAGGATCTCTTTGCGCCTTTGCTTCCTCAACAGGAAATGACAGTAATTCCAGGACCTTCACAGTGGGATTTGGAGAGGGGTCAGTTAATTACGGTGCTATCTACACGGGCAAGTTAACAGTGTGGAGTCTGCGGGCTGTGCTGGTTTCCTCTGTGTCTCCAGCGCCCAGCCGAATGCCTGACTCGCTCCAGTTCTCAGAAAGTGTTTACTAAGTGAACCGCACTGCCAGGTTTCGGTTTCTTCAGTCACATCCACAGTGAGGATGTTACCACTGAGATGAGGGCAGGATTGTAAAAGGAGGCAGATACTAAGCTCTGTTACAAATGTTAATTTCAAGAAGTCACTTTATTAACATTTGAGCAGAGATAAACACTATGAGGCTCATTTCTATCTCCTGTTCTGCGAGCGTGGCAGAGCGAGCTCAGCAGGTTGAGCGAGCTCCCTGGAAGATTACAGAGTCTCTGGCTGACACCAATGGCCCTGAGCTGTCTCCTCCCCTAGCTGAGCTCCAGATAAGCACCTAGTGCTGGTTGAGAGGGCCACGCCTTAGGCAAAGGCCATGTTCAGGTCCTCCTTATCCTTGGAATGACAAACTCCCAGAAGCCTGCCTGGATTATCCCCGGCCTCCAGGAGTGCTTTGCTGCTCTCTCACTTAGCTCTTCTTACATTTGGCCTTTCGTGAAGGTCAGCAGCGGGCACACATATTTACTCTCAACCCTCTGAGTGTGCGACTGCGTCCCTCTCACGTCTGCACCCCCAGTGGTCTGGAGTGTTTGTTCAGATCCCTGCAAGGCGAGCTGAATGCCAGGAACCAGCTTACAGGCCAGGTGTCCTTCCTGGGGACACCTGTCCTATTAATCTATTTGCTCAAACTCAGAGCCTGCCTCTTCCGCTCATTTTATACTCTCCCTCTCATCTGTCCCACATTTCGGATCTACAGAAGACACCTCATAAATAGCAATGATGTGGCTGAACTACATCCCAATACCTGTTGTAGGCATTGATGAACAGGTGCAGGTTGCCGGGGTTCATGTCATTCACAATGTGCTGGCGGTAGGTGTGGACCACTTCCACGTTACTCTGCATTTCTTCCTGCATTTAGAGAGGTGAGAAGATGGTCCTCATCGCACTGTGGCCCTGAGCTGGTCACTACTCTCTCCATTCTCCAGGTTATTTGGAGACAAAGTAAAGATAATAATGCCTAATCCACAAGACAGCGACGGACCTAAAAAAAAAACCTTTGGGAAAGCAACACGCCCAACCAGGTGCAGACAGGGGTTTCACTATCCGCTGGGAGCAGAAAAGACCCCCATCCTGGAAAGGCCACACCCCACCCTTCCAAACTCATTACTTTGGGAGTTTCAATTTGAAGTCAGACATCCTGGATCTAGAGCTTAGCTTCATCACTGTCCCTTTCGTAGGCAAATCTTTCAACCTCTCTGAGCCTCAGATCTCTTAAAAAAAAAAAAAAAAAAAAGGGAAGAGAGAGAATGTTGCCTACTTCACTAGGTTGTAGGACTTAATGGAGGTTGTGTTCTCACCTCTACTAACAGTAAAAATTGGAGGCAAATGTTAGTAATTGTTTTCCAATGGGAAGAGCTGAAAAGAAGTTTTTCATGCTTGAAAAGCAAAATCAACTCATGCCACAGGAAGTTACTGAAAAGAAGGGCAATTGCAACTCCCACCACGGCCAACCAGAGCCTTGGGGAAGTCGGCCTCAGCCTCCCCGTCTCTGGGTGCTTTTTGAATGTTATTTGCGACAAACAACTTGTTTGCTCTGTTTCTCATTTGTACGAGGGCAGACACTGTAGGTTTCACACAAGGGTCTGATATGACCAGTGGCAACCAGATGAGAAGTTGGAGTTGGGGGTCAAAGAAAGCCGGTGTCAAGCTTGAGCTGCATCAAACAGTCCAGGATCATTTAGGCAGCAAGGAGGTCAACTGGCTACTAAGAGCAAACTCTGGAAAAAATAGTCAGGAATCACGCTGGGATTTCAGATCAAAACCAACTATAGCGATCTGGGGGTACCCTCAGACACCATGGCCGGACCAACCAGTCTCCAAATAACTTGGGGTATAATCAGATCAGATGCTCAACGCTATGTCTGACATCCCTCCTCCAGTGAAACAGAGACAGTGGCTGTGAATTTTTCCCAATTCCTATCAGTTTCAGATTACACACTCAGGACAGGGAAAATGTGTCACACGCTGTGGAATGAATCGTAAAAGGGGAAAGAGGACTCTAGTGGGCTAAACTGTGGCCCTCAAAAGATATGTCCATGTCAAATCTCTTGAACTTGGGAATGCAAACTTGCTGGGAAAAAGGGTTTTTGCAGGTGTAATTAATTAAGGATCTTGAGATGAGATAATCCTGGATTACATGAGCCGGGATGAAATCCAATGGAAAGTATCCTTAAAAGAGGAAGGAGAGGGAGAAATAAAACAGACACAGAGGAGAAGACCATGTGAAGACAGAGGCAGAGAGTGGTGTGAGCAGCCACTAGCCAAGGAATGCCGACAGCGACCTGGAGCAGTAAGAAGCAAGGACGAATTTCCCCTGGAGCCTGTGGCGGAGGGGCGGCCCTGCCAGCGCTTGACATCGGAGTTCTAGACTCAGAGCTGTGAGAGAATACACTTTTGTTTTCCTTTTTCTCTGTTTTTGAGACAGAGTCTCCCTCTGTCTCACCCAGGCTGCAGTGCATGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACCACATCCGGTTAATTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGATCCACTCGCCTAAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCCTGCTCATCCCACTTTCGCTGTTCTAAGCCATCCTGTTTGTGGTAATTTGTTACAGAAGCCACAGGAAACCAACACAACAGGCAAACCTAGCAGTTGTACTCGCCAACTCCAGAGTGGA | CTTCATGGAGCAAAGCCTCACACAGTTATTGATGTAGTAGGTGCTTAATAAATGCTGTCCCAAGTACAATCAACCATCCTTCTCCAAGATCAAAGGCCTAGGTCATGGGGACACCCTAGAAACGGATGCCACCGGCACAGGGAGAAGTCCAAGTCAGGCTGGGTAATGCTCAGTCTCTGGGTGGAATATATCCAGGTCTCACTGACACAATGTCCTGCCACACTCAGAAAGAAGGCCCTGCCAGCAAGGCCACCTTTATAGTGGGCAGCCCCGACTGCAAGTGCTGGGGGAGAGAAAAGCCACTCACTGCAGGGTGACTGTGTGGGTTCCCGGCATTGGTCGCTCAATCTCCAGGTCGCGCCGGCTGCAGGAAACAAATGCATCATTAGCATGAGGACCCCTCCCCTGGAGAAATCTCCCACTCCCATCCAGCCAAGCCCAGGAGGTCCTGCCAGTGGCCATTCTGGTAAGCTACCCACATCCCCAACTTGAGAGAGGCCCTGTGGCTTTCAGGACTCCACACCCTCTTGGTGTCCACAGACCTGGTTAGAGGGACAGCACAACACATGCATTTCAAGCAGAGCCCCCTCATTTTGTCACAAATATTTGTGGGGCTTTTTTTTCCAGGAGTAGAAGTCAGATTCTCCACCATAGAGGGTCCCCGCCTTCCCTGTCCCCCTAGTCAGAGCCCCCACCTGACAGAGGGGCCACCTCCCAAATGCTCTCGCAGCCTCTTAGTTTAAGTCCCAGCCTCACCAACTCTGAGTCCTCTATAAAGCACCCAAATGATCTCTTTAAAACTCAGGCCTCATCTTTCCATTCCCTGTCTCAAACCCTGTGGTGGTTTCCCACTGCACTCGTGTGAGGCCCAGTGTGGGTCCAGCCCAGTGCCGACCACCTTTCCTGCACGCAGCCACCCACCCTCTCTGCTATCTTGCAGCTCCCAACATGAGAAGCTCTTTCCCAGCTCACAGCCTGGAGTTAGACAAGCAGGATCCAAATCATGCTCTGCCACTTTCTAGCTGTGTGGCCTTGGGGAGAACACAGGATCTCTTTGCGCCTTTGCTTCCTCAACAGGAAATGACAGTAATTCCAGGACCTTCACAGTGGGATTTGGAGAGGGGTCAGTTAATTACGGTGCTATCTACACGGGCAAGTTAACAGTGTGGAGTCTGCGGGCTGTGCTGGTTTCCTCTGTGTCTCCAGCGCCCAGCCGAATGCCTGACTCGCTCCAGTTCTCAGAAAGTGTTTACTAAGTGAACCGCACTGCCAGGTTTCGGTTTCTTCAGTCACATCCACAGTGAGGATGTTACCACTGAGATGAGGGCAGGATTGTAAAAGGAGGCAGATACTAAGCTCTGTTACAAATGTTAATTTCAAGAAGTCACTTTATTAACATTTGAGCAGAGATAAACACTATGAGGCTCATTTCTATCTCCTGTTCTGCGAGCGTGGCAGAGCGAGCTCAGCAGGTTGAGCGAGCTCCCTGGAAGATTACAGAGTCTCTGGCTGACACCAATGGCCCTGAGCTGTCTCCTCCCCTAGCTGAGCTCCAGATAAGCACCTAGTGCTGGTTGAGAGGGCCACGCCTTAGGCAAAGGCCATGTTCAGGTCCTCCTTATCCTTGGAATGACAAACTCCCAGAAGCCTGCCTGGATTATCCCCGGCCTCCAGGAGTGCTTTGCTGCTCTCTCACTTAGCTCTTCTTACATTTGGCCTTTCGTGAAGGTCAGCAGCGGGCACACATATTTACTCTCAACCCTCTGAGTGTGCGACTGCGTCCCTCTCACGTCTGCACCCCCAGTGGTCTGGAGTGTTTGTTCAGATCCCTGCAAGGCGAGCTGAATGCCAGGAACCAGCTTACAGGCCAGGTGTCCTTCCTGGGGACACCTGTCCTATTAATCTATTTGCTCAAACTCAGAGCCTGCCTCTTCCGCTCATTTTATACTCTCCCTCTCATCTGTCCCACATTTCGGATCTACAGAAGACACCTCATAAATAGCAATGATGTGGCTGAACTACATCCCAATACCTGTTGTAGGCATTGATGGAACAGGTGCAGGTTGCCGGGGTTCATGTCATTCACAATGTGCTGGCGGTAGGTGTGGACCACTTCCACGTTACTCTGCATTTCTTCCTGCATTTAGAGAGGTGAGAAGATGGTCCTCATCGCACTGTGGCCCTGAGCTGGTCACTACTCTCTCCATTCTCCAGGTTATTTGGAGACAAAGTAAAGATAATAATGCCTAATCCACAAGACAGCGACGGACCTAAAAAAAAAACCTTTGGGAAAGCAACACGCCCAACCAGGTGCAGACAGGGGTTTCACTATCCGCTGGGAGCAGAAAAGACCCCCATCCTGGAAAGGCCACACCCCACCCTTCCAAACTCATTACTTTGGGAGTTTCAATTTGAAGTCAGACATCCTGGATCTAGAGCTTAGCTTCATCACTGTCCCTTTCGTAGGCAAATCTTTCAACCTCTCTGAGCCTCAGATCTCTTAAAAAAAAAAAAAAAAAAAAGGGAAGAGAGAGAATGTTGCCTACTTCACTAGGTTGTAGGACTTAATGGAGGTTGTGTTCTCACCTCTACTAACAGTAAAAATTGGAGGCAAATGTTAGTAATTGTTTTCCAATGGGAAGAGCTGAAAAGAAGTTTTTCATGCTTGAAAAGCAAAATCAACTCATGCCACAGGAAGTTACTGAAAAGAAGGGCAATTGCAACTCCCACCACGGCCAACCAGAGCCTTGGGGAAGTCGGCCTCAGCCTCCCCGTCTCTGGGTGCTTTTTGAATGTTATTTGCGACAAACAACTTGTTTGCTCTGTTTCTCATTTGTACGAGGGCAGACACTGTAGGTTTCACACAAGGGTCTGATATGACCAGTGGCAACCAGATGAGAAGTTGGAGTTGGGGGTCAAAGAAAGCCGGTGTCAAGCTTGAGCTGCATCAAACAGTCCAGGATCATTTAGGCAGCAAGGAGGTCAACTGGCTACTAAGAGCAAACTCTGGAAAAAATAGTCAGGAATCACGCTGGGATTTCAGATCAAAACCAACTATAGCGATCTGGGGGTACCCTCAGACACCATGGCCGGACCAACCAGTCTCCAAATAACTTGGGGTATAATCAGATCAGATGCTCAACGCTATGTCTGACATCCCTCCTCCAGTGAAACAGAGACAGTGGCTGTGAATTTTTCCCAATTCCTATCAGTTTCAGATTACACACTCAGGACAGGGAAAATGTGTCACACGCTGTGGAATGAATCGTAAAAGGGGAAAGAGGACTCTAGTGGGCTAAACTGTGGCCCTCAAAAGATATGTCCATGTCAAATCTCTTGAACTTGGGAATGCAAACTTGCTGGGAAAAAGGGTTTTTGCAGGTGTAATTAATTAAGGATCTTGAGATGAGATAATCCTGGATTACATGAGCCGGGATGAAATCCAATGGAAAGTATCCTTAAAAGAGGAAGGAGAGGGAGAAATAAAACAGACACAGAGGAGAAGACCATGTGAAGACAGAGGCAGAGAGTGGTGTGAGCAGCCACTAGCCAAGGAATGCCGACAGCGACCTGGAGCAGTAAGAAGCAAGGACGAATTTCCCCTGGAGCCTGTGGCGGAGGGGCGGCCCTGCCAGCGCTTGACATCGGAGTTCTAGACTCAGAGCTGTGAGAGAATACACTTTTGTTTTCCTTTTTCTCTGTTTTTGAGACAGAGTCTCCCTCTGTCTCACCCAGGCTGCAGTGCATGGCGCGATCTCGGCTCACTGCAGCCTCTGCCTCCCAGGTTCAAGTGATTCTCCTGTCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCGTGCCACCACATCCGGTTAATTTTGTATTTTCAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTCGTCTCGAACTCCTGACCTCAGGTGATCCACTCGCCTAAGCCTCCCAAAGTGCTGGGATTATAGGTGTGAGCCACCCTGCTCATCCCACTTTCGCTGTTCTAAGCCATCCTGTTTGTGGTAATTTGTTACAGAAGCCACAGGAAACCAACACAACAGGCAAACCTAGCAGTTGTACTCGCCAACTCCAGAGTGG | pathogenic | 139,362 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 133284329, gene NDRG1 (N-myc downstream regulated 1). What disease(s) is it linked to if pathogenic? | benign | CACACATGAAAGATACAAGGGTGCAAATTTCTTGCAGTGCTGTCTGTAATAGCAAAAGGCTGGAAAGACACATGTGTTCATATACTGGGCACTGGGCAAATACATGTAGTGGAATACTATGTACCTAAAAAGAGAAAAGCAAGTGGATTATGGACTGATGTTGAAAAGATCTCCCAGAAATGTCAAGTGAATAAAGCAAAGTGTGGGATACTATTTTCACAGGGTTTTTTAAAAGGGAGAAATAAGAATATGGTGATATGTATTTGTTCTATCTAGAAGTTTCTGTTTGACTATTTCAGAAGACTATGTCACAGACCCAGAGTTTAGAGGACACAGATTTAGAAATTGCATAGTATACAGTAGGGGTTGGCACACTGCAATCCGCCTCACCACATTTTAAATTTTTGTTGGAACACATTAAGTACATTCACTTGTATACTGTCTATGGTTGCTTTCTTGCTATAATGGCAAAGTTGAGCAGTTGCAACAGAGGTCATGTGGCCTTCAATGCCTAAGATATTTACTATTTGACCCTTTGCAGAAAAGGTTTGCAGACCTTAGTGTGGAATGATAAGCAAGCATCTGTAGCCTCCCCAGGCTTGGTTTCTAACTCTAGTTGTACCAGCTATCTGGATGAACTTGACCAATCCCCTTCCTGTCTAGGACCAGTTTGTTTTTATTTTTAAATCTGCAAAAGGGGAAAAGAGATGGTTGCCTCACACATTTGTAAAGAAAAGTCTATGAAATTATGAACCTAAAACAGAGCAGCCACATGTAGAGTCATAAGGAAATTAAATGAACAGTCTATTCACCAACGTCCGCTGGCCTGGGTTTGATTCCATGTCCCACACTTTGTAACTATGCAAAGAAGACAAATTAACCTCCCTAAGACCCAACTTCCTCCTCTACAAAATGAGTACGATCACAGAACCTGGGACCTGCATGAACCAAAGTTGAAATACGGTCGGCGGAGAAGCAGGCATGCAGGATGTGGTTAGTGCATGGTAATTATCACTTTTAAAAGCATTTAGTTGGCTTTAGACTAACTTCACTTTTGGACCAAAGCTTCCACATTTTTAAAAAGACATATCAGAGGCAGTTATGAGGCTAAGTGAGAATTGGGATGTAAACATGCTTTGAAGCTACGGTGTCAACTGTGCAAATGTAAAGGTTCATTCATCTTCAGAACAATCAGCCCAGGCTGGGCCCTGCCAGCCCAGCCTATAGACAGGGGCTTCTGTTTCCAACAGGAAGAGCTCTGTTGACAGAAGAGGTTTGCCCAAAAAGATAATAATAGCAAGTGAAAAAGTGACTATGCATTGCCCATCTCCTCTATGGCAAAGTTCTAACTGTTCCCTATGAATTAGGTCACTCCATCCTCACTTGGCCCCATGAGGTAAGTCCTAATGTCACCATTTTACAGATGAAGAACTAGAATATGAAGATACTGAGAGGTTAGCAAGTGGACACCAAGCTGCAAAGTGTCACAGCTGGGATTTAAGCCCAGACAGTGCGGCCCCAGAGTATGTGGCTTTAATGAGAGCTGAGGCAGGCAGTCCCTATGGGCAACTGGGCCCCATGTTGCATGTTCTATAACCACAGAATGTTAGAGACGGGAAAGCTGAGAGAACCTCTGGTTCGATGTCTTCACTTTACAAATGAGAGCAGAAAGGCCCAGAGAAGTGGGCAAGGGGCCCAGCCCTCGATCCTATGGGACTTGAACCAGAGCCTCTCACAACTTTGCATTTCAAGGAAGCAGTGGACAAATGTGTTATGTGTGTACGCATGTGTGTCTGTATGCTATGTACATGTGTGTGCAGCATGTTTGTATGCCGTGTGTATGCTGTATACATGTGTATTTGTGCAGTGTTTGCATGCCCATAAGTACAAGTGTGAGCTCCGGTGTGCCTGTGTGTGTCTATGTGCACATGTGCCTGTGATGGGGTAGCCAGGAAGATCTCCACTCACCTCCCCTTTCTCCACCAAAGGCTTCACCTCAGCGAGGTCTACATCCTGCATCTCCCGAGACATGTCCCTGCTGTCACCTGCCTGCAAGGAGACAAAGGCCAAAAGGTCAACACTTCCTGCTGAGAGGTTTCCTAAAGGAAGCAAATCCAAGACCAATGGCAAGAAGGCCAGGCCTGCGCTCTGCCCAGCAGCTTCACCTCCCTCGTGATGCACTGCAGGGGATGAGGAGGTCCCTTGTACACACAGCCCATGGACCCAACCCAGTCTTCCCATTGGGGCCAGCGCAGTGGATTTCCTGGGAGAGGATACTGAGGCTCACAGACACCACCCTCCCAATGAAATGGATAGATCAGCCTCACAAACAGGTCCCCATACCAAGTTCAGGCCCACCCACCATACCCAGGATGCAGCTCACTGCATTCTAGAAGGGGACCTGCATTGCTGATCCCAAAGTCAGGCAGCCCCCGTGTGACAATGAAAGGGGAACACAAGCTCACACGATGCTTACCACGTATAGGCATAGTGCAAGCTTCAGCCTCACAGTTAGCCCTAACAGAAGGTTGGTGATGCAGACGCACAGACACACAGGCACACGCATGCGCGTGAACACACATACACACCCCACGGTGCAGGACTCTCGGCTGCCTGCTAAAAGGGAAGAGGGGCAGAGGAAAACCTTAAGTCAAGGAGTTTGGCAGGCATTTGAACGCACAGTACAATTTTGTAAGAAAAAAGACCTCCAAGGCAGAAAGCACTTCCTGGATCAAAGCAGGGGATGGACCAGAGGGGTTACCTGTGCTCTAACACAGGGCAGGTGCAGAAGTGTGGGCTGCAAAACCAGACTGAAGCACAGCCCAGGAAGACTTGGAATGCTGCCACTGACTCCCTGGGGTGCAAGGCTTGGGCAGGTGGTGCTATCTATTAAGCATGCCTCCAAGAGCTGAATCTAGAAACCAGAAGTATAAGCATGTATTCTTCTAGATCAGTAGTCAAGTTAGAAAAACTAAATGCCCATCAATCCCTGGGGTGAAGCATAAAAAATGCAGAATAAGGTCAAGTCTTACAGACAGCAGCAGAGGACCGGCGGAGAAGAAGTAAGTGACAAGAGGGAAGAGCCCAGGCCACCCACCCAGTTCACAGATCCAGACTTTCTGAATGGAAAACGCCTGACCAAAGCCCTCACACAGCCAGCTTCAGAGTGGGAACCTGGGCCCCGCACTGCCCAAGGCCCCTCGGATGCAATGGTCGAGAGAATGCAAGCCTCTGAAATTCCTGCCTAGGGCTCCTCTGAAGACCCAGGAACTCCCAAGAACCTGGTGAAACACCTCTTAGAGGTCAGCCGGCAAGTGCGGGCCACCCCGAATCCACCCCGGGTCCATCCCTTGTGCCAACACATGGCATTCCGTGGGCAGATCCTGCTCTCCACTGGGGTGCTCTGGTCTGGGGCCCCAGCATGATTTTCCCCAGTAGATAACCAGCCCCACAAGAATGGCTTTATACAGACTTTGGAGTCTATGCTCCAGAACATTCTGAAAACAAAGTCGGTTTTATATTTGTGAGCATTCCTGGGCAGCTGCCAGCTTGGAGGCAGGAGGCATGAAAGGCCCGCGTCTGTTAGCCTTGCTAATTCAGCAGGTTCGTGGTCCCAAGACCCTGGCCTGTGGGACACCTCGCCTACATGGCCTAGGGAGCCTTCCAGAAACCCAGGGCCCTGCCAACGCCACCCCTCATTCTGGGAGTGAAAGGACTTCTCATTTCACAGGAGCTTCTTAGCATACCCTGCTCAGCAAAGCGCGCCAGGGTGAAGTCAGGGGGCTCTCACTGTCCCACCAGGTGGGTTCAAGCAGTCCTATCTGTGAGCTTCATCAAGCAGGTAGCTTGTTCTTTTCTCTACCTCTAGCTCCCAGCACGAGAGACTCTCCTAGGCAGAAAGTCAGGCTGCAACTCCCTCTCTGAATAAATGAGCAATGTAGCTCAACAGCATGCTTTCAGTAAAATTCACTTTTAAATCATTGCTAAACCCCAAGAGTGCAATGTCTGGAAAACAAATTCTACATTTAAAAGGACTCGAGAAATGCTGTGGTTCAGCCCAGTTTGGTCAGTTCTCTTTGGCTTCCAGAAACCGTGA | CACACATGAAAGATACAAGGGTGCAAATTTCTTGCAGTGCTGTCTGTAATAGCAAAAGGCTGGAAAGACACATGTGTTCATATACTGGGCACTGGGCAAATACATGTAGTGGAATACTATGTACCTAAAAAGAGAAAAGCAAGTGGATTATGGACTGATGTTGAAAAGATCTCCCAGAAATGTCAAGTGAATAAAGCAAAGTGTGGGATACTATTTTCACAGGGTTTTTTAAAAGGGAGAAATAAGAATATGGTGATATGTATTTGTTCTATCTAGAAGTTTCTGTTTGACTATTTCAGAAGACTATGTCACAGACCCAGAGTTTAGAGGACACAGATTTAGAAATTGCATAGTATACAGTAGGGGTTGGCACACTGCAATCCGCCTCACCACATTTTAAATTTTTGTTGGAACACATTAAGTACATTCACTTGTATACTGTCTATGGTTGCTTTCTTGCTATAATGGCAAAGTTGAGCAGTTGCAACAGAGGTCATGTGGCCTTCAATGCCTAAGATATTTACTATTTGACCCTTTGCAGAAAAGGTTTGCAGACCTTAGTGTGGAATGATAAGCAAGCATCTGTAGCCTCCCCAGGCTTGGTTTCTAACTCTAGTTGTACCAGCTATCTGGATGAACTTGACCAATCCCCTTCCTGTCTAGGACCAGTTTGTTTTTATTTTTAAATCTGCAAAAGGGGAAAAGAGATGGTTGCCTCACACATTTGTAAAGAAAAGTCTATGAAATTATGAACCTAAAACAGAGCAGCCACATGTAGAGTCATAAGGAAATTAAATGAACAGTCTATTCACCAACGTCCGCTGGCCTGGGTTTGATTCCATGTCCCACACTTTGTAACTATGCAAAGAAGACAAATTAACCTCCCTAAGACCCAACTTCCTCCTCTACAAAATGAGTACGATCACAGAACCTGGGACCTGCATGAACCAAAGTTGAAATACGGTCGGCGGAGAAGCAGGCATGCAGGATGTGGTTAGTGCATGGTAATTATCACTTTTAAAAGCATTTAGTTGGCTTTAGACTAACTTCACTTTTGGACCAAAGCTTCCACATTTTTAAAAAGACATATCAGAGGCAGTTATGAGGCTAAGTGAGAATTGGGATGTAAACATGCTTTGAAGCTACGGTGTCAACTGTGCAAATGTAAAGGTTCATTCATCTTCAGAACAATCAGCCCAGGCTGGGCCCTGCCAGCCCAGCCTATAGACAGGGGCTTCTGTTTCCAACAGGAAGAGCTCTGTTGACAGAAGAGGTTTGCCCAAAAAGATAATAATAGCAAGTGAAAAAGTGACTATGCATTGCCCATCTCCTCTATGGCAAAGTTCTAACTGTTCCCTATGAATTAGGTCACTCCATCCTCACTTGGCCCCATGAGGTAAGTCCTAATGTCACCATTTTACAGATGAAGAACTAGAATATGAAGATACTGAGAGGTTAGCAAGTGGACACCAAGCTGCAAAGTGTCACAGCTGGGATTTAAGCCCAGACAGTGCGGCCCCAGAGTATGTGGCTTTAATGAGAGCTGAGGCAGGCAGTCCCTATGGGCAACTGGGCCCCATGTTGCATGTTCTATAACCACAGAATGTTAGAGACGGGAAAGCTGAGAGAACCTCTGGTTCGATGTCTTCACTTTACAAATGAGAGCAGAAAGGCCCAGAGAAGTGGGCAAGGGGCCCAGCCCTCGATCCTATGGGACTTGAACCAGAGCCTCTCACAACTTTGCATTTCAAGGAAGCAGTGGACAAATGTGTTATGTGTGTACGCATGTGTGTCTGTATGCTATGTACATGTGTGTGCAGCATGTTTGTATGCCGTGTGTATGCTGTATACATGTGTATTTGTGCAGTGTTTGCATGCCCATAAGTACAAGTGTGAGCTCCGGTGTGCCTGTGTGTGTCTATGTGCACATGTGCCTGTGATGGGGTAGCCAGGAAGATCTCCACTCACCTCCCCTTTCTCCACCAAAGGCTTCACCTCAGCGAGGTCTACATCCTGCATCTCCCGAGACATGTCCCTGCTGTCACCTGCGCAAGGAGACAAAGGCCAAAAGGTCAACACTTCCTGCTGAGAGGTTTCCTAAAGGAAGCAAATCCAAGACCAATGGCAAGAAGGCCAGGCCTGCGCTCTGCCCAGCAGCTTCACCTCCCTCGTGATGCACTGCAGGGGATGAGGAGGTCCCTTGTACACACAGCCCATGGACCCAACCCAGTCTTCCCATTGGGGCCAGCGCAGTGGATTTCCTGGGAGAGGATACTGAGGCTCACAGACACCACCCTCCCAATGAAATGGATAGATCAGCCTCACAAACAGGTCCCCATACCAAGTTCAGGCCCACCCACCATACCCAGGATGCAGCTCACTGCATTCTAGAAGGGGACCTGCATTGCTGATCCCAAAGTCAGGCAGCCCCCGTGTGACAATGAAAGGGGAACACAAGCTCACACGATGCTTACCACGTATAGGCATAGTGCAAGCTTCAGCCTCACAGTTAGCCCTAACAGAAGGTTGGTGATGCAGACGCACAGACACACAGGCACACGCATGCGCGTGAACACACATACACACCCCACGGTGCAGGACTCTCGGCTGCCTGCTAAAAGGGAAGAGGGGCAGAGGAAAACCTTAAGTCAAGGAGTTTGGCAGGCATTTGAACGCACAGTACAATTTTGTAAGAAAAAAGACCTCCAAGGCAGAAAGCACTTCCTGGATCAAAGCAGGGGATGGACCAGAGGGGTTACCTGTGCTCTAACACAGGGCAGGTGCAGAAGTGTGGGCTGCAAAACCAGACTGAAGCACAGCCCAGGAAGACTTGGAATGCTGCCACTGACTCCCTGGGGTGCAAGGCTTGGGCAGGTGGTGCTATCTATTAAGCATGCCTCCAAGAGCTGAATCTAGAAACCAGAAGTATAAGCATGTATTCTTCTAGATCAGTAGTCAAGTTAGAAAAACTAAATGCCCATCAATCCCTGGGGTGAAGCATAAAAAATGCAGAATAAGGTCAAGTCTTACAGACAGCAGCAGAGGACCGGCGGAGAAGAAGTAAGTGACAAGAGGGAAGAGCCCAGGCCACCCACCCAGTTCACAGATCCAGACTTTCTGAATGGAAAACGCCTGACCAAAGCCCTCACACAGCCAGCTTCAGAGTGGGAACCTGGGCCCCGCACTGCCCAAGGCCCCTCGGATGCAATGGTCGAGAGAATGCAAGCCTCTGAAATTCCTGCCTAGGGCTCCTCTGAAGACCCAGGAACTCCCAAGAACCTGGTGAAACACCTCTTAGAGGTCAGCCGGCAAGTGCGGGCCACCCCGAATCCACCCCGGGTCCATCCCTTGTGCCAACACATGGCATTCCGTGGGCAGATCCTGCTCTCCACTGGGGTGCTCTGGTCTGGGGCCCCAGCATGATTTTCCCCAGTAGATAACCAGCCCCACAAGAATGGCTTTATACAGACTTTGGAGTCTATGCTCCAGAACATTCTGAAAACAAAGTCGGTTTTATATTTGTGAGCATTCCTGGGCAGCTGCCAGCTTGGAGGCAGGAGGCATGAAAGGCCCGCGTCTGTTAGCCTTGCTAATTCAGCAGGTTCGTGGTCCCAAGACCCTGGCCTGTGGGACACCTCGCCTACATGGCCTAGGGAGCCTTCCAGAAACCCAGGGCCCTGCCAACGCCACCCCTCATTCTGGGAGTGAAAGGACTTCTCATTTCACAGGAGCTTCTTAGCATACCCTGCTCAGCAAAGCGCGCCAGGGTGAAGTCAGGGGGCTCTCACTGTCCCACCAGGTGGGTTCAAGCAGTCCTATCTGTGAGCTTCATCAAGCAGGTAGCTTGTTCTTTTCTCTACCTCTAGCTCCCAGCACGAGAGACTCTCCTAGGCAGAAAGTCAGGCTGCAACTCCCTCTCTGAATAAATGAGCAATGTAGCTCAACAGCATGCTTTCAGTAAAATTCACTTTTAAATCATTGCTAAACCCCAAGAGTGCAATGTCTGGAAAACAAATTCTACATTTAAAAGGACTCGAGAAATGCTGTGGTTCAGCCCAGTTTGGTCAGTTCTCTTTGGCTTCCAGAAACCGTGANN | benign | 139,408 |
Is the chromosome 8, position 139910269 variant in TRAPPC9 (trafficking protein particle complex subunit 9) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Intellectual_disability,_autosomal_recessive_13'] | GAATGAATAACCTCCTGCCAGGCCCACCATGCACCTGCCCCTTCCTCCACTGGTGCTGCTGGCGCTGAGCTGGGGCTGCATCAGACCCATCCAGGACCGCCTTGCTCTGCATGGGGCGCCCGGCCAGAGGCTGAATCTCTGAGACCCGAGTAAGAGATGCCTCCTGCCTCACATAGAGCCTCTCCAACCCTCAGCCTATCAGAAAGACCCAACAGAAAGACAGAAAGATTATCAGAAACATGGGCCTATCAGAAAGACCCAAGACCCAGCATAGACGCTGGGAGGTGAGTGCCAGGGGTCCCTCCTTTCCCCAGCCTGGCAGCGTGGGAGTTGCCTGCGGAGCCTTCTCCTTTGAAGCCTGAGACTCGGGGGTGAGCACTTTGCCAGCAAACTTACCTGGGTTGGTCCCTGGCCCTACCCCTCATGGCTGAGACTCAATTTCCTTCATGGGAGCCACAGTGCTGGTCAGGGAGATGTGGAGGAGATAAATGGGGTGATGGGTGCACGCCCGACACAGTAGGAACCAGTCTGACTCGCTCCTTGCTATGGCATTTTGCTCATTAAGAACTGGCTGAACCCTGACTTTGTGCCAAGCTCTGTGGGGAATACAAGGGAAAGACAACTCCCATTATCCCCACCTTTTTACTTCTCTCTGTACCAGAGATAAACACCGGTAACTCCACAACAGACTGTTCCTGTTCACTACGTGAGTCCCCAAGCACTCTATTTTTCATGTCTGGTTCACAAAACCTTCTATCTACATGTAAAGTGCTTATTTTGTCACAAACTCCTTGGAGACAGTGAGTCTGCCAGGCTCAAAGTCCCTTTAGCTTGAACAAAGGAATTGGCCTCAGGTTCTGGAAACTATGCTGTGTAGAGCGAGGACACTTTCGGAATCCAGGAGGCCATCTGGAAGGATCCCAGACCACACAACGGAGCAACGTGTGTATCCCCATATCTGCAGAATGTGTGCATGACTGAGATCATTAACAGACATTCCCATCAGAGCTGCCCCTTCCCCGGAGATGGGCTCTCATGCCTCAGTATTTTGGGGCTGTTTCCTACCTTTGTCCCCTTAATAAACTTCTATCTACTTCTAGCAGCCACTCAAATGTCACCTCCTCTATGAAGCCTTCCTTGAATGCCCCCACCCAGTGGCCTCTGAACCTGCAGCACTCGGCAGGGTGCTCTGCCTTCGCTCCCCAACAGTGCTCAATTCCCAGAGGACACATCCACTTCATACTAGACAAACAACTGCATGGAGACCTTGTCTTTGCATCTCAGCCTCTTAAATGCCTTGCAAAATGCCTGACTCAAAAGTAGGTGCTCTCCAAAGATTGCTGAACAAACAAATGAGGGAACCTGGGCTTCTCCAAAGTGCTCGGTCAGTCAGTGGAGTGTCTGCAAGGAGTCAGCCATTGATCCAAAGTTCAGACCAGGCTCAGTGACTGTGTGAAACACTGTGTTATAGCACAATCCTTCTGAAAACTCTCTCCAACTTTTCAAAATGGCATCTTCATGCCTCGGTAAGCTGTACAATCCGATTTCAGTTTCTCAGACAATTGCACTTGTGTTTTCAGCTGTCAGTCTGTGAACCCCCTGAGCCCGGCACTGATAGGTGGCCATTAGAACCTGTCACTAACATGAATATCAACACTGGCAAGAAGCATGTGATCCAAAGACGAGAGCACCACCGGCTCCGAGAAGACCTTTCCTCGCCCCCAATCAATACTGCTCCGAGTGGGGCCTTTGAAGTGTTAAGAGGTTAAGGAAATGCCAAGCCTTTGGTCCACATCTCCTTGCCACAGCATTTCTGAGCTACCTGTGGTGAAAATTCAATAGCTAAGACCCTCACGGGTCTTTCTTAGAGGTTGGAACCCTGGGCAAAGGTGCCCCCAGGCCCAGGTGGCCCCTGGAAAAGGATATGATTCTCCAGCAGATGCCCAGCTTGCTGTGGATCTCCAGGCCTCGGGCTTCCCGCCGCTCTTCCTCCAGCTGCTTGGGGTTTGCAAATTGCCCCTTCTCCCCAGGGGACTCCGGGAAACTCTCAAAGTTGAACTTGTCCACTTGAATAGCCATTCTACGAGAAAGGGGAAAACACAGCAGAGAATTCATCAGTAGGGCAATTTCTGCCGGCTGTTGGAGAATCAGCACATGCCAGCGTGAGACACTATAATGAATCATTATCGTTAGTAATTCATAACGGATTCATTCCAAGAAAATGAAATAATAGACTCCTAAGGTGGCCCTGACTTCAGAGCTGGTTCAACACACAATTTGGAGCTGAAGACACAGTCATTGCTTCAAACCTCTGGGAAGACCTGTGTTACCCCAGATAAAAATTTCAATTCCATAACACAGCAAGGCAGGAAAGAACCAGTGTGCCATAGATAGTGAGCTGGATGGCGACTTAAACTCCTGTGCAGTCATGGAGAACGCTGACAATTATTTAACCCTGGGGATCCATCAGCCCACTGGGAACTGCCTGTTTATCCTCTGAGTGCTGTCTGCCTCCTCCCCCTACCATTTCCTTCTCAGGCCAGGTGGGCGTGCCCCTCCCACAGCCCCCCCTCAGCTCTCATTTGGAACGGTTGCATTTACCCAATGTCTGTACCCCTATTGTATCTAGGAAATAACTAGCTTGTTTTTGATTTTACAGGTTCATAGGTGGAAGGGACTTGCCTTCTCTCAGATGAGACTTTGGACTGTGGACTTTTGAGTTAATGTTGAAATCAGTTAAGACTTTGGGAGACCGTTGGGAAGGCATGATTGGTTTTGAAATGTGAAGATATGAGACTTGGGAGGGGCCAGGGGCAGAATGATAGAGTTTGGCTCTATCCCCACCCAAATCTCATCTTGAGTTGTACTCCCGCAATTCCCGTGTGTTGTGGGAGGGACGCGGTGGGAGATAATTGAATCATGGGGGTGGCTTCCCCCATACTGTTCTCAGGGTAGTGAATAAGTCACACAAGATCTGATGGTTTCATAAGGGGGAGTTTCCTGCTGTCATCCATGTAAGACGTGACTTGCTCCTCCTTGCCTTCATCATGATTGTGAGGCTTCTCCAGCAACGTGGAACTGTAAGTCCAATTAAACCTCTTTCTTTTGTAAATTGCCCAGTCTCGGGTATGTCTTCATCAGCAGCATAAAAACAAACTAATACAACAACAGAGGGTTTATCAGTCAATGGATAAGAGTAGGCGTTTTGGGCCGGGTGCGACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGGCAGAATCACTAGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACCAAAAATACAAAAATAAGCCAGGTATGGTGATACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATTGCCTGAACCAAGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAAATGGCAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAAAAGTAGGCCTTTTTTTTTTATTATTGCATAGATTGTGCTGTGGCCAAAACATTCAGCAAAACCATGCTCTAATTGGCCTCTGTGGCTATTCCCTTGAACGAGCAAGAAATAAGGGGACCTGCTGTTAAGGGGATATAAAGACAAGATAAGACCCAAAGAAGTCTCAGTCTCCACGACAGCTTGGGAAAGAACTACTGCAGTGCCAATAAATCTCTAGTATTCAGCCTGAGGCATGACATGCGGGGCTGAGCCACACAAGAGCTAGAGACGCTCCCCGCAAGCAGAGGACAGTGCTTTTGTGGCAAAACATGGTTTTTAAAAAAATCACTTTTACTATTATTTTCTGGTTCTCTAAGTAGATAGCTTATTGTTAAACAGTTGGAAGATAGAAAAAAGCATAAAAAAGAAAATAAAAGCATTCAAATATTATACTCTAATGTTAACATCTTTACAGTCTTTTCCCTAAGTATTTGTATTTAACATAGTTTAAAATCACTACATATATATGTATAAATCATGATGTATCATATACACAAAGAAATACACCCACATACATAGTTTGAAGTCTTGTTTTATTCTCTTAATATGCTATGAATAT | GAATGAATAACCTCCTGCCAGGCCCACCATGCACCTGCCCCTTCCTCCACTGGTGCTGCTGGCGCTGAGCTGGGGCTGCATCAGACCCATCCAGGACCGCCTTGCTCTGCATGGGGCGCCCGGCCAGAGGCTGAATCTCTGAGACCCGAGTAAGAGATGCCTCCTGCCTCACATAGAGCCTCTCCAACCCTCAGCCTATCAGAAAGACCCAACAGAAAGACAGAAAGATTATCAGAAACATGGGCCTATCAGAAAGACCCAAGACCCAGCATAGACGCTGGGAGGTGAGTGCCAGGGGTCCCTCCTTTCCCCAGCCTGGCAGCGTGGGAGTTGCCTGCGGAGCCTTCTCCTTTGAAGCCTGAGACTCGGGGGTGAGCACTTTGCCAGCAAACTTACCTGGGTTGGTCCCTGGCCCTACCCCTCATGGCTGAGACTCAATTTCCTTCATGGGAGCCACAGTGCTGGTCAGGGAGATGTGGAGGAGATAAATGGGGTGATGGGTGCACGCCCGACACAGTAGGAACCAGTCTGACTCGCTCCTTGCTATGGCATTTTGCTCATTAAGAACTGGCTGAACCCTGACTTTGTGCCAAGCTCTGTGGGGAATACAAGGGAAAGACAACTCCCATTATCCCCACCTTTTTACTTCTCTCTGTACCAGAGATAAACACCGGTAACTCCACAACAGACTGTTCCTGTTCACTACGTGAGTCCCCAAGCACTCTATTTTTCATGTCTGGTTCACAAAACCTTCTATCTACATGTAAAGTGCTTATTTTGTCACAAACTCCTTGGAGACAGTGAGTCTGCCAGGCTCAAAGTCCCTTTAGCTTGAACAAAGGAATTGGCCTCAGGTTCTGGAAACTATGCTGTGTAGAGCGAGGACACTTTCGGAATCCAGGAGGCCATCTGGAAGGATCCCAGACCACACAACGGAGCAACGTGTGTATCCCCATATCTGCAGAATGTGTGCATGACTGAGATCATTAACAGACATTCCCATCAGAGCTGCCCCTTCCCCGGAGATGGGCTCTCATGCCTCAGTATTTTGGGGCTGTTTCCTACCTTTGTCCCCTTAATAAACTTCTATCTACTTCTAGCAGCCACTCAAATGTCACCTCCTCTATGAAGCCTTCCTTGAATGCCCCCACCCAGTGGCCTCTGAACCTGCAGCACTCGGCAGGGTGCTCTGCCTTCGCTCCCCAACAGTGCTCAATTCCCAGAGGACACATCCACTTCATACTAGACAAACAACTGCATGGAGACCTTGTCTTTGCATCTCAGCCTCTTAAATGCCTTGCAAAATGCCTGACTCAAAAGTAGGTGCTCTCCAAAGATTGCTGAACAAACAAATGAGGGAACCTGGGCTTCTCCAAAGTGCTCGGTCAGTCAGTGGAGTGTCTGCAAGGAGTCAGCCATTGATCCAAAGTTCAGACCAGGCTCAGTGACTGTGTGAAACACTGTGTTATAGCACAATCCTTCTGAAAACTCTCTCCAACTTTTCAAAATGGCATCTTCATGCCTCGGTAAGCTGTACAATCCGATTTCAGTTTCTCAGACAATTGCACTTGTGTTTTCAGCTGTCAGTCTGTGAACCCCCTGAGCCCGGCACTGATAGGTGGCCATTAGAACCTGTCACTAACATGAATATCAACACTGGCAAGAAGCATGTGATCCAAAGACGAGAGCACCACCGGCTCCGAGAAGACCTTTCCTCGCCCCCAATCAATACTGCTCCGAGTGGGGCCTTTGAAGTGTTAAGAGGTTAAGGAAATGCCAAGCCTTTGGTCCACATCTCCTTGCCACAGCATTTCTGAGCTACCTGTGGTGAAAATTCAATAGCTAAGACCCTCACGGGTCTTTCTTAGAGGTTGGAACCCTGGGCAAAGGTGCCCCCAGGCCCAGGTGGCCCCTGGAAAAGGATATGATTCTCCAGCAGATGCCCAGCTTGCTGTGGATCTCCAGGCCTCGGGCTTCCCGCCGCTCTTCCTCCAGCTGCTTGGGGTTTGCAAATTGCCCCTTCTCCCCAGGGGACTCCGGGAAACTCTCAAAAGTTGAACTTGTCCACTTGAATAGCCATTCTACGAGAAAGGGGAAAACACAGCAGAGAATTCATCAGTAGGGCAATTTCTGCCGGCTGTTGGAGAATCAGCACATGCCAGCGTGAGACACTATAATGAATCATTATCGTTAGTAATTCATAACGGATTCATTCCAAGAAAATGAAATAATAGACTCCTAAGGTGGCCCTGACTTCAGAGCTGGTTCAACACACAATTTGGAGCTGAAGACACAGTCATTGCTTCAAACCTCTGGGAAGACCTGTGTTACCCCAGATAAAAATTTCAATTCCATAACACAGCAAGGCAGGAAAGAACCAGTGTGCCATAGATAGTGAGCTGGATGGCGACTTAAACTCCTGTGCAGTCATGGAGAACGCTGACAATTATTTAACCCTGGGGATCCATCAGCCCACTGGGAACTGCCTGTTTATCCTCTGAGTGCTGTCTGCCTCCTCCCCCTACCATTTCCTTCTCAGGCCAGGTGGGCGTGCCCCTCCCACAGCCCCCCCTCAGCTCTCATTTGGAACGGTTGCATTTACCCAATGTCTGTACCCCTATTGTATCTAGGAAATAACTAGCTTGTTTTTGATTTTACAGGTTCATAGGTGGAAGGGACTTGCCTTCTCTCAGATGAGACTTTGGACTGTGGACTTTTGAGTTAATGTTGAAATCAGTTAAGACTTTGGGAGACCGTTGGGAAGGCATGATTGGTTTTGAAATGTGAAGATATGAGACTTGGGAGGGGCCAGGGGCAGAATGATAGAGTTTGGCTCTATCCCCACCCAAATCTCATCTTGAGTTGTACTCCCGCAATTCCCGTGTGTTGTGGGAGGGACGCGGTGGGAGATAATTGAATCATGGGGGTGGCTTCCCCCATACTGTTCTCAGGGTAGTGAATAAGTCACACAAGATCTGATGGTTTCATAAGGGGGAGTTTCCTGCTGTCATCCATGTAAGACGTGACTTGCTCCTCCTTGCCTTCATCATGATTGTGAGGCTTCTCCAGCAACGTGGAACTGTAAGTCCAATTAAACCTCTTTCTTTTGTAAATTGCCCAGTCTCGGGTATGTCTTCATCAGCAGCATAAAAACAAACTAATACAACAACAGAGGGTTTATCAGTCAATGGATAAGAGTAGGCGTTTTGGGCCGGGTGCGACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCCGGCAGAATCACTAGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCTATCTCTACCAAAAATACAAAAATAAGCCAGGTATGGTGATACACACCTGTAGTCCCAGCTACTCAGGAGGCTGAGTCAGGAGAATTGCCTGAACCAAGGAGGCGGAAGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTAAATGGCAGAGTGAGACTCTGTCTTAAAAGAAAAAAAAAAAGTAGGCCTTTTTTTTTTATTATTGCATAGATTGTGCTGTGGCCAAAACATTCAGCAAAACCATGCTCTAATTGGCCTCTGTGGCTATTCCCTTGAACGAGCAAGAAATAAGGGGACCTGCTGTTAAGGGGATATAAAGACAAGATAAGACCCAAAGAAGTCTCAGTCTCCACGACAGCTTGGGAAAGAACTACTGCAGTGCCAATAAATCTCTAGTATTCAGCCTGAGGCATGACATGCGGGGCTGAGCCACACAAGAGCTAGAGACGCTCCCCGCAAGCAGAGGACAGTGCTTTTGTGGCAAAACATGGTTTTTAAAAAAATCACTTTTACTATTATTTTCTGGTTCTCTAAGTAGATAGCTTATTGTTAAACAGTTGGAAGATAGAAAAAAGCATAAAAAAGAAAATAAAAGCATTCAAATATTATACTCTAATGTTAACATCTTTACAGTCTTTTCCCTAAGTATTTGTATTTAACATAGTTTAAAATCACTACATATATATGTATAAATCATGATGTATCATATACACAAAGAAATACACCCACATACATAGTTTGAAGTCTTGTTTTATTCTCTTAATATGCTATGAATA | pathogenic | 139,467 |
Regarding the variant found on chromosome 8 at position 140435250 in gene TRAPPC9 (trafficking protein particle complex subunit 9): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | GAATCACTTGAGCCCGGGAGGCAGAGGTTATAGTGAGCCGAGATCATGCTGCTGCACTTCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAACAACACACAGGCCAGGAGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCAGATCACTTATGGTCTGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTGAAATTTACAAAAATTAGCCAGGTGTGGTGACGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTAAAACCCAAGAAGTAGAAGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAACAACAACAACAACAACAAAAACACACATAATCTATTCAACAATGTCCCCTTGTAGTCAATCTATAAAGGAAAAGTAACTGATGTCAAATCAACGTTTTTACTTTTCTCATCTATTACAGATACAGGAAAAAAATCAAAATTTTCTCAATCACAAAAAAGATAAGCCTGAGGCAGAAGAATAGGATCTAGAGGCAAAGAACTTAAGGTTGTTTCACACAGACTTCCTACAACTACATTGAAAGGAAAACCCTAACTTTCCATGACTAAGTAACAAAAGGACCAGAGGCTGCTCCCTTTGACCTTTTCTGCATGGCAGGTGGGAAACTGGCTGTCCGGAACCACTCAGACTGATTGCTGGTGGAGTCTTAGTTTGCAGAGAAGTATAACTTTGTCTACTTTTCATTTGCATAGAAGCATAACTTTGTAACTTCACCTTAGCCTCTGAGTGGCTGCTTTCCGCAACCAATCAGACTAACTGCAGGCTACCACTTCATTTACAAGAGGTGAGCATGAAGTGGCCAATGGGAAACTTCTAGTGGGTATTTAGACCCAAGAAGATTCTGTATCCGTGCCCTTGAGCCCGCTGCTCGGCCCACTCCCACACTGTGGAGTGTACTTTCGTTTTCAATAAATCCCTGCTTTCATTATTTTGTTGCTTCCTTCTTTGTGACCTATGCAACATGATGACTAAATCCTGAGCCATTAAAGGCAGGTTCATTCATCAAGGACCAAAACGTTCATGTTCATTCAGCATTCGTGGGTCTGCTCTACCCAAGAAGTTTTCTCACTCTTCATTGGTTCTACCAAGCATAAGCAAATCAAACAACTCATTGAGAGAATGTCATCAGCCAATAAAATAAGAAACTGCTCCCAGGCCCTGAATCAGCTTATTAAAATTGACCTCTGGGACTAGCTTCTCCTAATACATAAAATTATAAAAAAGACTTAGACACAGAACCTCAAGTCTGTTCTACCAGGAAATTTTACACAAGTATTCCAGAAATCAACCAATCATTCTAACCCATTAGTGGTATTCAGTAAGATTGAAAGTATTCAATAAAATCAGAACAAAATGTCTCATACAAGATTTCTGGGCAGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAAGCATTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGCCTCTATTAAAAATACAAAAAATTAGCCATGTGTGGTGGCGGGCGCCTGTAATCCCAACTAGTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGTGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCCGGGCAACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTACTGACTCAACAGATTTTACAGTTTATTTAAATATTAGTCCTAACTCAAAGGAAAAAGTAACAAATGAGTCTGCTTTATTTAAAGACTGCAAGTGAGCAGAGGCCGGAAAAAGGGCAGAGCTCACCTGGCCGGTGTCTATTGGCTGCTTCAGCAGGAAGGGTGCTGCCCTGGAACCTCCGAGCTCCACTCTTCCCACCAGTTCCACCAGGATAGTGATAGATGACAGAAGCTGAACACAATCCTTCCAGGGCAGCTGGGCATTAAGAAAACAAAAAACAAAAACCAGAAAACAAAAAACAAAAACCAGCATCATTAGTCAAGTCAGTGACCCTTCATTAGCTCAAACTGCAGTAACTAACAATGATTTAAACAGGTGGATTATTTGGAAATGCCAATTTTTCTCCCAAAACAAAGATCAAACCTAAAGATCACTAGTTTTTTGCAAATGGGAACTTGCCACCTGTCTTTCCCATGCCCATGTCCAGGCAGGCAATGCAGAACACTCTCACCACACTCAAGGTTTCCCTGCAGGGCTGACTGCACACGTAAAACAGGCCAGCCTCTGCGTTCATCCATTCACGTGGCCGGCATTCCTGCACAAACTGTGTGGCAGACTGCGCCAGGTTCTGGAGCTACAGAGATGTATAACAGAAAGTGCCCTGGATTGAAAATATTTCACAGTAATAGCACCAAAGCAAGACCAGAATGCCTTTCCAGACCATGCACCCCATAGGCATCTGCTCCTTTTGAGGTTGTAGTCCTCCCTCTTCCTCAAAAACAGCCATATTAACTCGCTACACAGTCCGTTCTTCTCTCATGACGTAACAACCTAATAATCTCCAGCTATGCCACATGCCTTAGAAGGTGTGCCACAGTATTCATCTCTATCATCTTTATCCATTAACTCAGTGCTCCTTAAACTTTTGGTCTAAAAACTCCTTGATGCTCTTAAAAATGACTTAGGATCACAAAGAGCTTTTTTTGTGATGTGGGTTACACCTGTAGATATTTACCATATTGGAAAATAAAACTGAGAAAAGGATTTAAGTATTTATGTATTAATTCCTCTTAAAATAGGCCAGACGCAGTGGCTCATGCCAGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAAATTGGCCAGGCATGATAAAACACACCTGTAGCCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAAATGGAAGTTTCAGTGAGCTGAAATCACGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTGACTCAAAAAAATAAAAATAAAAAATAAAATAATAAGCTTGTCATGTGTTAACAGTTTTATGAAAAATAATTGTTTTCCAAAACAAAAATAAAGTACTGGAGGAATGGCATTATTTGACATGTTCACACATTTCTTTAATATCAGAGTTAATACAAGTCAGCTGGATCTTCTATCAGCTTCTACATTCAGTCTGCTGTGATGTCAGGCCTAAGTAGCTTGTGGACAACTCCACTGTCCACTTCTGAGAGGCTGAGCATGGAAGAGGCCCACGGCACACAGCACCGTCCTTCTCTGTGTGCCCTTTAGGAGCCCTCCTCATCCAGTCCAGCGCCGCATGGGGAAGGCATATGGGCAGTACCAGTCTTTCTGGAGAAGCACCTGCTGCACATGCCCTAGTCTCAGAGCCCACTGGGAGATGCACAGATTCTCTAATTGATACAATAAGGAGTACTTAGGGAGACAATGCTCTTTCAAGAAAACCAAGTAAAACTATGTCTTTCTCAGCCTGCATAATCCTTTATCTGATTCTCTTTTCTTTTCCATCCCTAATTCTTACTCCCTTTCTTTCCCCACTTCTATTTCCCTAGCCTCTTTAAAAAACTAAATTTAAGTCCATTTTAAGTTTTATTTTGGTTTTTTCTTAAGAGACAAAGTCTCACTCTTGCTCAGGATGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTTGACCTCCTGAGCCCAAGCGATCCTCCTGCCTCACCCTCACAAGTAGCTGGGACTACAGGCACAGACCACCAAGCCCAGCTAATGTCTTTTTATTTTATTTTATTTTATTTTATTTTGGTAGAAGTGAGGTCTCCCTATGTTGCTCAGGCTGGTCTCCACCCAGTTAATGTTTTTTAATTTTGTTTTGTAGAAGTGAGGTGAAGTAAGATTTTTTTATTTTTTATTTTTTGTAGAAGTGTTGGGATTACA | GAATCACTTGAGCCCGGGAGGCAGAGGTTATAGTGAGCCGAGATCATGCTGCTGCACTTCAGCCTGGGCAACAGAGCAAGACTCTGTCTCAAAAAACAACACACAGGCCAGGAGCGGTGGCTCACACCTGTAATCCCAACACTTTGGGAGGCCGAGGCAGGCAGATCACTTATGGTCTGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCGCATCTCTACTGAAATTTACAAAAATTAGCCAGGTGTGGTGACGGGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGCAGGAGAACCACTAAAACCCAAGAAGTAGAAGTTGCAGTGAGCCGAGATTGAGCCACTGCACTCCAGCCCAGGTGACAGAGCGAGACTCTGTCTCAAAAAACAACAACAACAACAACAAAAACACACATAATCTATTCAACAATGTCCCCTTGTAGTCAATCTATAAAGGAAAAGTAACTGATGTCAAATCAACGTTTTTACTTTTCTCATCTATTACAGATACAGGAAAAAAATCAAAATTTTCTCAATCACAAAAAAGATAAGCCTGAGGCAGAAGAATAGGATCTAGAGGCAAAGAACTTAAGGTTGTTTCACACAGACTTCCTACAACTACATTGAAAGGAAAACCCTAACTTTCCATGACTAAGTAACAAAAGGACCAGAGGCTGCTCCCTTTGACCTTTTCTGCATGGCAGGTGGGAAACTGGCTGTCCGGAACCACTCAGACTGATTGCTGGTGGAGTCTTAGTTTGCAGAGAAGTATAACTTTGTCTACTTTTCATTTGCATAGAAGCATAACTTTGTAACTTCACCTTAGCCTCTGAGTGGCTGCTTTCCGCAACCAATCAGACTAACTGCAGGCTACCACTTCATTTACAAGAGGTGAGCATGAAGTGGCCAATGGGAAACTTCTAGTGGGTATTTAGACCCAAGAAGATTCTGTATCCGTGCCCTTGAGCCCGCTGCTCGGCCCACTCCCACACTGTGGAGTGTACTTTCGTTTTCAATAAATCCCTGCTTTCATTATTTTGTTGCTTCCTTCTTTGTGACCTATGCAACATGATGACTAAATCCTGAGCCATTAAAGGCAGGTTCATTCATCAAGGACCAAAACGTTCATGTTCATTCAGCATTCGTGGGTCTGCTCTACCCAAGAAGTTTTCTCACTCTTCATTGGTTCTACCAAGCATAAGCAAATCAAACAACTCATTGAGAGAATGTCATCAGCCAATAAAATAAGAAACTGCTCCCAGGCCCTGAATCAGCTTATTAAAATTGACCTCTGGGACTAGCTTCTCCTAATACATAAAATTATAAAAAAGACTTAGACACAGAACCTCAAGTCTGTTCTACCAGGAAATTTTACACAAGTATTCCAGAAATCAACCAATCATTCTAACCCATTAGTGGTATTCAGTAAGATTGAAAGTATTCAATAAAATCAGAACAAAATGTCTCATACAAGATTTCTGGGCAGGGCATGGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGTGGATCACGAGGTCAAGCATTCGAGACCAGCCTGGCCAACATAGTGAAACCCCGCCTCTATTAAAAATACAAAAAATTAGCCATGTGTGGTGGCGGGCGCCTGTAATCCCAACTAGTCAGGAGGCTGAGGGAGGAGAATTGCTTGAACCTGGGAGGTGGAGGCTGTGGTGAGCCGAGATTGCGCCACTGCACTCCAGCCCGGGCAACAGTGCAAGACTCTGTCTCAAAAAAAAAAAAAAATTACTGACTCAACAGATTTTACAGTTTATTTAAATATTAGTCCTAACTCAAAGGAAAAAGTAACAAATGAGTCTGCTTTATTTAAAGACTGCAAGTGAGCAGAGGCCGGAAAAAGGGCAGAGCTCACCTGGCCGGTGTCTATTGGCTGCTTCAGCAGGAAGGGTGCTGCCCTGGAACCTCCGAGCTCCACTCTTCCCACCAGTTCCACCAGGATAGTGATAGATGACAGAAGCTGAACACAATCCTTCCAGGGCAGCTGGGCATTAAGAAAACAAAAAACAAAAACCAGCATCATTAGTCAAGTCAGTGACCCTTCATTAGCTCAAACTGCAGTAACTAACAATGATTTAAACAGGTGGATTATTTGGAAATGCCAATTTTTCTCCCAAAACAAAGATCAAACCTAAAGATCACTAGTTTTTTGCAAATGGGAACTTGCCACCTGTCTTTCCCATGCCCATGTCCAGGCAGGCAATGCAGAACACTCTCACCACACTCAAGGTTTCCCTGCAGGGCTGACTGCACACGTAAAACAGGCCAGCCTCTGCGTTCATCCATTCACGTGGCCGGCATTCCTGCACAAACTGTGTGGCAGACTGCGCCAGGTTCTGGAGCTACAGAGATGTATAACAGAAAGTGCCCTGGATTGAAAATATTTCACAGTAATAGCACCAAAGCAAGACCAGAATGCCTTTCCAGACCATGCACCCCATAGGCATCTGCTCCTTTTGAGGTTGTAGTCCTCCCTCTTCCTCAAAAACAGCCATATTAACTCGCTACACAGTCCGTTCTTCTCTCATGACGTAACAACCTAATAATCTCCAGCTATGCCACATGCCTTAGAAGGTGTGCCACAGTATTCATCTCTATCATCTTTATCCATTAACTCAGTGCTCCTTAAACTTTTGGTCTAAAAACTCCTTGATGCTCTTAAAAATGACTTAGGATCACAAAGAGCTTTTTTTGTGATGTGGGTTACACCTGTAGATATTTACCATATTGGAAAATAAAACTGAGAAAAGGATTTAAGTATTTATGTATTAATTCCTCTTAAAATAGGCCAGACGCAGTGGCTCATGCCAGTAATCCCAGCACTTTGGGAAGCCAAGGTGGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCTGACTCTACTAAAAATACAAAAATTGGCCAGGCATGATAAAACACACCTGTAGCCCCAGCTACTCGGGAGGCTGAGGCAAGAGAATCGCTTGAACCTGGGAAATGGAAGTTTCAGTGAGCTGAAATCACGCCATTGCACTCCAGCCTGGGCGACAGAGTGAGACTGACTCAAAAAAATAAAAATAAAAAATAAAATAATAAGCTTGTCATGTGTTAACAGTTTTATGAAAAATAATTGTTTTCCAAAACAAAAATAAAGTACTGGAGGAATGGCATTATTTGACATGTTCACACATTTCTTTAATATCAGAGTTAATACAAGTCAGCTGGATCTTCTATCAGCTTCTACATTCAGTCTGCTGTGATGTCAGGCCTAAGTAGCTTGTGGACAACTCCACTGTCCACTTCTGAGAGGCTGAGCATGGAAGAGGCCCACGGCACACAGCACCGTCCTTCTCTGTGTGCCCTTTAGGAGCCCTCCTCATCCAGTCCAGCGCCGCATGGGGAAGGCATATGGGCAGTACCAGTCTTTCTGGAGAAGCACCTGCTGCACATGCCCTAGTCTCAGAGCCCACTGGGAGATGCACAGATTCTCTAATTGATACAATAAGGAGTACTTAGGGAGACAATGCTCTTTCAAGAAAACCAAGTAAAACTATGTCTTTCTCAGCCTGCATAATCCTTTATCTGATTCTCTTTTCTTTTCCATCCCTAATTCTTACTCCCTTTCTTTCCCCACTTCTATTTCCCTAGCCTCTTTAAAAAACTAAATTTAAGTCCATTTTAAGTTTTATTTTGGTTTTTTCTTAAGAGACAAAGTCTCACTCTTGCTCAGGATGGAGTGCAGTGGTGCGATCGTGGCTCACTGCAGCCTTGACCTCCTGAGCCCAAGCGATCCTCCTGCCTCACCCTCACAAGTAGCTGGGACTACAGGCACAGACCACCAAGCCCAGCTAATGTCTTTTTATTTTATTTTATTTTATTTTATTTTGGTAGAAGTGAGGTCTCCCTATGTTGCTCAGGCTGGTCTCCACCCAGTTAATGTTTTTTAATTTTGTTTTGTAGAAGTGAGGTGAAGTAAGATTTTTTTATTTTTTATTTTTTGTAGAAGTGTTGGGATTACANNNNNNNNNNNNNNNNNNNNN | benign | 139,527 |
Evaluate this variant at chromosome 8, position 140451093, gene TRAPPC9 (trafficking protein particle complex subunit 9): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['TRAPPC9-related_disorder'] | CCTTCCAGACCCTGCAAAGCACCACAGGCAGGTGCGACTGAGGCTATTCCATGCTTCCAACTCTGAGGGCTGGATTTAAGACTACTGTGTCTCAATTCTGTGATCATCTCTCCTCATACTTACCAACAACCAGAACGACACCGTGTGACCTTAGATAAATTTCAGAAACATACTGAGCACCTACTTTGCAGCAGGCACTATGGTGGCATGCACCTTACATCACTGAATCCTCACCTGTGGCTCATCAGCCAATCCTATACAGGAGGAGGGAGAGCCCTGTCCAAGCCAGGAGGCCAGTGACTGACACAGTGACACATCACTTTCCCTGGCAAATGGGGACGCCCTCTTGGCAAACAGCTGCTGCCTAGGCTTGCATCTCATCCAGCTCTGCAGAACAGCCACCATGGCAAGACACAGCAGCAAGCAGAGAGTGGAAGGAAGTGGCAAGGAAGAGCTCATCTGCAATTTTGATTTGAAATAAAGTTTTTGACTTAATAACAGGCAAGATGGGAAGCTGACCTTTTCCTGCTCTATCCAACACTCCTTGTACACAGAGAGAACAGACATACTTTTCATTTGTATACGGTAGCTGTTTAGGAGCTCCCAGGTGGTATTTCTGGCATCCTGATATCCATGCTTGGCTGCTTTGTAAGTGAGGAATTCGACACTGTGGCCATCAGGAGGGAAAAAGTAGCCACATACGCAGGGTGCACAGCCTGGCAATCCGGAGACGTGGGCTCTACTTCTAGCTCAGCTAGGACCTAGCCCTTACCTCTCCAGATTCACCCTCTCATCTGTGAACCAAAGGGACGAGACTGAATAAAACTGTTCAAACTGTGCTCTAGCACAGTGCTGTCCAACAGAAATAAAATGCAAGCCACGTAAGTACATTTCAGTTTCTAGTTGCCACATTTTTAAAAGTAAGAATGAAACAGTTGATACTGATTTTTAAAATATAGTTTATTTAACCTAAGATATGTAAAATACTATCATTTCAACATGTAATCTGTATAAAACATATTAGCAAGAAAGTTGGCCAGGCACAGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACGTGGCAAGATCCTGTCTCTATTAAAGATACAAAACTTAGCCAGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCCGGGAGGTGCACGTTGCACTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGAGAGACAGAGTAAGACTCTGTCTCAAAAAAAAATTAGCAAGAAAGTTTATTTTTTCAGAAGTAAGTCTCAAAATCTGGCGTGGGTTTTATTCACAGCCCATCTCAACTAAAACTAGCCTCGTGTCTAGTGCCCAAAAGCCACAACTGGCTGTGGCTGCTGTATGGGACAGAGCTCCAGGAGTCCCACGAGGGGAGCCCCACTAAAAAGAGGGGAGTGTACAAGACAACTCTAAAGGACTCCCCCAACCAAAGGCTGTCTCTGTCTTTAAAAGTCACTGGTTTTTGTTTGGTTGGTTTTTTTAGCAGCACTCAAACAGATTCTGACAGAAAGTCATTAGTTTTAAAAACCAATGGACAACACCTTTCTACTCCTTGCTGCAATGAAATTCTGCCCTGTGCTTTCCCTTTCTGATGCAGGGAAGCCAAGGGGCCTGGGTCTCTAGGTAAGCTTACCTGCTGTCTGTGTCCAGTCCTACAAAGTCCTTTTTCTCAAACGGGACACAGAGAAGGGGGATCTTATCCCCAGACTTGTCTGTGGCTCTGTCCAGACGCTTGGACTCCAGCACGATGAACAGTGACTCGATGAAGTCCTCGATTCTCTTCTCCACCGTCTGGCAGTCCTCGTAGTTGGGGTAGAAAGCCACGTCGGTGCGCGGCTGCTCCACGATCTCCCCCTGCAGCCCGAAGACAAAGAGCCGGGAGTCATACAGTGTGGAGCCGTAGATCTCCTTCTGCACGTGGAACTTCTCAAAGGTCTGTGGCCAGTCCTTGGCCGAGAAGCAGTCTGTGATGGTGATGAGGCCCACGACTTTGCGGTGGGTCTGGAAGTCACCCCACTCGTTGTTCTCGGGTGGGTAGTGGTGCCTGTAGCGGATGTAGAGGACTCGCTGGGAGTCCCGCACGCTGATCTGACTCACAGAGCAAATCCTCTTATAGATCCTGAAGAAGTTCTCCTCGGAGACGATGCCCACAGGCTGGACCACCACGAGCAGCGTCTGGTGGTCCTCAGCACACTGCATGTAGTCAGGGACGCTCATTTTGAAGTCCCTGTTCAGAGAGAAGAAATGAGGCTGTGAGACACAGAGTCCTGAGTGCTGAGAGCCTACCCTGGGAGGCAGTGACTGTGACCTTCACTACCCAGAGGCAGGGGAAGCCCCAAGGAAAGCCGTGGCATCAACAGGTCTTAGGGCTCTACACGTGGCTGTCGCAGCTCTGATCATAATGCTGTAACTGTTGACCTTCAGTCCCTTGGCCTCAGCATGGAGCTTCTACAGAAATGGGGCTGTTTCTTGTCTTTCTATTCTCACCACCTAACCAGGAGTAGTAAGAGTCAGTGCTCAAAAATGTCTGTTGAGTGAATGAATAAACACGTGTGTAATTGCTCCCCCATCCCCTCAACAGGATATTAAGAAAAATCCACCATGCAATCACATCTGGATTTGAATTCCGGGCTCCCTGGAACTCCTCAGCTACAAAATAGTGGTGATAATAGAACTTGTCTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAACACTTTGGAAGGCCGAAGCTGGCGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTATACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAATCCCAGTTACCCAGGAGGCTGAGGCAGGAAAATCACTGGAACCCGGGAGGTGAAAGCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAGGCGGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACAAGGTCAGAAGATCGAGATCATCCTGGCTAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCAGGGAGGCAGAGCTTGCAGTGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAGAAAAAGAACTTGCCTTATAAAACTGTATCTAGATTGAGGAGGTTGCGAATGTAAAGGGCCTAGCATTGTGCCTAACATAAAAGGAGAGATTACACAAATATACCACCTTTCCTTTATAAATGGGAGAGTTGCCATAACCTCTCTGAGCCAATTTTGTCAGATATAAAAAGAAAACGTTATTACCTGATTCCCCAGAGCTGGGGAAAAATTAAATTAGATGACCCACGTGAAAGAATCTGGCTCATAGGAGATCCTCAATACATGTTTGTTGAAGGGATTAGTGAACAAACAAACAAATGAACAATCCAATGAATGCTGCCCCCAGCCTACAGACGGTCATGATGGAAATCCCACTGCCTGGAAGTCAGGGCCGATATTCAACTCCCAGCTCTACACGCACGATCTGGGTGACCTGGAGCAAGCCTGTGTGCTTCCCTGAACCCTAGTTTCATTGTGAATAAAAATGAGGATAGTAACACATACCTCAAGGTGTCAGCAAGTCAACATTCTGGTTGTGATAACATACTGTGGTTTTGTAACATGGCACCACGGGGGGAAACTGGGCAAAAGGTATATAGGATCCCTCAGTATTATTTCTGACAAATGCACATGGAGCTACAACTACTATAGTCTCAAATAAAAAGTCTAATTTTTTTAAAGGTTAGGGAGATTAAATGAGCTCTCTGTATC | CCTTCCAGACCCTGCAAAGCACCACAGGCAGGTGCGACTGAGGCTATTCCATGCTTCCAACTCTGAGGGCTGGATTTAAGACTACTGTGTCTCAATTCTGTGATCATCTCTCCTCATACTTACCAACAACCAGAACGACACCGTGTGACCTTAGATAAATTTCAGAAACATACTGAGCACCTACTTTGCAGCAGGCACTATGGTGGCATGCACCTTACATCACTGAATCCTCACCTGTGGCTCATCAGCCAATCCTATACAGGAGGAGGGAGAGCCCTGTCCAAGCCAGGAGGCCAGTGACTGACACAGTGACACATCACTTTCCCTGGCAAATGGGGACGCCCTCTTGGCAAACAGCTGCTGCCTAGGCTTGCATCTCATCCAGCTCTGCAGAACAGCCACCATGGCAAGACACAGCAGCAAGCAGAGAGTGGAAGGAAGTGGCAAGGAAGAGCTCATCTGCAATTTTGATTTGAAATAAAGTTTTTGACTTAATAACAGGCAAGATGGGAAGCTGACCTTTTCCTGCTCTATCCAACACTCCTTGTACACAGAGAGAACAGACATACTTTTCATTTGTATACGGTAGCTGTTTAGGAGCTCCCAGGTGGTATTTCTGGCATCCTGATATCCATGCTTGGCTGCTTTGTAAGTGAGGAATTCGACACTGTGGCCATCAGGAGGGAAAAAGTAGCCACATACGCAGGGTGCACAGCCTGGCAATCCGGAGACGTGGGCTCTACTTCTAGCTCAGCTAGGACCTAGCCCTTACCTCTCCAGATTCACCCTCTCATCTGTGAACCAAAGGGACGAGACTGAATAAAACTGTTCAAACTGTGCTCTAGCACAGTGCTGTCCAACAGAAATAAAATGCAAGCCACGTAAGTACATTTCAGTTTCTAGTTGCCACATTTTTAAAAGTAAGAATGAAACAGTTGATACTGATTTTTAAAATATAGTTTATTTAACCTAAGATATGTAAAATACTATCATTTCAACATGTAATCTGTATAAAACATATTAGCAAGAAAGTTGGCCAGGCACAGAGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGCAGATCACTCAAGGCCAGGAGTTCAAGACCAGCCTGGCCAACGTGGCAAGATCCTGTCTCTATTAAAGATACAAAACTTAGCCAGGCATGGTGGCACCTGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCATGAGAATCACTTGAACCCGGGAGGTGCACGTTGCACTGAGCCAAGATCGCGCCACTGCACTCCAGCCTGAGAGACAGAGTAAGACTCTGTCTCAAAAAAAAATTAGCAAGAAAGTTTATTTTTTCAGAAGTAAGTCTCAAAATCTGGCGTGGGTTTTATTCACAGCCCATCTCAACTAAAACTAGCCTCGTGTCTAGTGCCCAAAAGCCACAACTGGCTGTGGCTGCTGTATGGGACAGAGCTCCAGGAGTCCCACGAGGGGAGCCCCACTAAAAAGAGGGGAGTGTACAAGACAACTCTAAAGGACTCCCCCAACCAAAGGCTGTCTCTGTCTTTAAAAGTCACTGGTTTTTGTTTGGTTGGTTTTTTTAGCAGCACTCAAACAGATTCTGACAGAAAGTCATTAGTTTTAAAAACCAATGGACAACACCTTTCTACTCCTTGCTGCAATGAAATTCTGCCCTGTGCTTTCCCTTTCTGATGCAGGGAAGCCAAGGGGCCTGGGTCTCTAGGTAAGCTTACCTGCTGTCTGTGTCCAGTCCTACAAAGTCCTTTTTCTCAAACGGGACACAGAGAAGGGGGATCTTATCCCCAGACTTGTCTGTGGCTCTGTCCAGACGCTTGGACTCCAGCACGATGAACAGTGACTCGATGAAGTCCTCGATTCTCTTCTCCACCGTCTGGCAGTCCTCGTAGTTGGGGTAGAAAGCCACGTCGGTGCGCGGCTGCTCCACGATCTCCCCCTGCAGCCCGAAGACAAAGAGCCGGGAGTCATACAGTGTGGAGCCGTAGATCTCCTTCTGCACGTGGAACTTCTCAAAGGTCTGTCCTTGGCCGAGAAGCAGTCTGTGATGGTGATGAGGCCCACGACTTTGCGGTGGGTCTGGAAGTCACCCCACTCGTTGTTCTCGGGTGGGTAGTGGTGCCTGTAGCGGATGTAGAGGACTCGCTGGGAGTCCCGCACGCTGATCTGACTCACAGAGCAAATCCTCTTATAGATCCTGAAGAAGTTCTCCTCGGAGACGATGCCCACAGGCTGGACCACCACGAGCAGCGTCTGGTGGTCCTCAGCACACTGCATGTAGTCAGGGACGCTCATTTTGAAGTCCCTGTTCAGAGAGAAGAAATGAGGCTGTGAGACACAGAGTCCTGAGTGCTGAGAGCCTACCCTGGGAGGCAGTGACTGTGACCTTCACTACCCAGAGGCAGGGGAAGCCCCAAGGAAAGCCGTGGCATCAACAGGTCTTAGGGCTCTACACGTGGCTGTCGCAGCTCTGATCATAATGCTGTAACTGTTGACCTTCAGTCCCTTGGCCTCAGCATGGAGCTTCTACAGAAATGGGGCTGTTTCTTGTCTTTCTATTCTCACCACCTAACCAGGAGTAGTAAGAGTCAGTGCTCAAAAATGTCTGTTGAGTGAATGAATAAACACGTGTGTAATTGCTCCCCCATCCCCTCAACAGGATATTAAGAAAAATCCACCATGCAATCACATCTGGATTTGAATTCCGGGCTCCCTGGAACTCCTCAGCTACAAAATAGTGGTGATAATAGAACTTGTCTTGGCCGGGCATGGTGGCTCATGCCTGTAATCCTAACACTTTGGAAGGCCGAAGCTGGCGGATCACTTGAGGTCAGGAATTCGAGACCAGCCTGGCCAACATGGTGAAACCCCACCTATACTAAAAATACAAAAATTAGCCGGGTGTGGTGGCACGTGCCTGTAATCCCAGTTACCCAGGAGGCTGAGGCAGGAAAATCACTGGAACCCGGGAGGTGAAAGCTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAGGCGGGGCGCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAGCTGAGGCAGGCAGATCACAAGGTCAGAAGATCGAGATCATCCTGGCTAACATGGTGAAACCCCATCTTTACTAAAAATACAAAAAATTAGCCCGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCATGAACCAGGGAGGCAGAGCTTGCAGTGAGCCCAGATGGCGCCACTGCACTCCAGCCTGGGCGACAGAGCCAGACTGCATCTCAAAAAAAAAAAAAAAAAAAAAGAATTAAAAGAAAAAGAACTTGCCTTATAAAACTGTATCTAGATTGAGGAGGTTGCGAATGTAAAGGGCCTAGCATTGTGCCTAACATAAAAGGAGAGATTACACAAATATACCACCTTTCCTTTATAAATGGGAGAGTTGCCATAACCTCTCTGAGCCAATTTTGTCAGATATAAAAAGAAAACGTTATTACCTGATTCCCCAGAGCTGGGGAAAAATTAAATTAGATGACCCACGTGAAAGAATCTGGCTCATAGGAGATCCTCAATACATGTTTGTTGAAGGGATTAGTGAACAAACAAACAAATGAACAATCCAATGAATGCTGCCCCCAGCCTACAGACGGTCATGATGGAAATCCCACTGCCTGGAAGTCAGGGCCGATATTCAACTCCCAGCTCTACACGCACGATCTGGGTGACCTGGAGCAAGCCTGTGTGCTTCCCTGAACCCTAGTTTCATTGTGAATAAAAATGAGGATAGTAACACATACCTCAAGGTGTCAGCAAGTCAACATTCTGGTTGTGATAACATACTGTGGTTTTGTAACATGGCACCACGGGGGGAAACTGGGCAAAAGGTATATAGGATCCCTCAGTATTATTTCTGACAAATGCACATGGAGCTACAACTACTATAGTCTCAAATAAAAAGTCTAATTTTTTTAAAGGTTAGGGAGATTAAATGAGCTCTCTGTATCNNNNNNN | pathogenic | 139,544 |
Variant on chromosome 8, at position 140458378, affecting TRAPPC9 (trafficking protein particle complex subunit 9): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | TGAACCCAGGAGGCGGAGGGTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCCAGGCGACAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAATCACTGAATTGTACACTTTAAAGCAGTGGATTTTATGGCAGGTAATCGAGGCTCAATGAAGCTGTTATTTTTGACACACTAGATTTCTGAAACATTTATTGTTTACATGTTTCCGGACAACTGTTTTTCCCTCTACACTACTAGTCCTCCACACAATTAAAAAAACGAACAAACACACACAACAAAACCTAGCCAGATCTTTAGGACGGCAATGTTCCTGGGCCTCCAACATCATCCACCCGGTGCTTTGTTTCAGGTTAACAAATAAAGATGTCATAGGTAGCTATGACTACCTTAGAAACACGGGACAGTCACCAGTTTAAACTGGGGCCGTGAGGGATGGAAGGGAAGTCACTCCCCCATACCTTTCAACTGGGCCTTGCTTCCAGCGTTTTAATTCCTCTCTCTATAGAAACATTTGAAGACAGACAACGCATCCTAACACGGGAAAACTTTCGGTTAACAGACATTCACGTTGGGAAGGTCTGCAGGGGTGGAGGGGATTGGGGTGGGCTGACAGGGAGAAGACCACAGGCCAGTAGCCTGACTTCCTCTCCCCAGGGTTCCCTGGGATAAGTTGGAGTTGACAGCGCGCTTATCCCAGAGAGCACCGCCTGATGCCGCCCAGCTAGATCGCAGGCACTTTGAATCCAGGAGACAGGAGGGAAAGGGCTAGGGGAGAAGTCCGGGAACTCAGGGCGGGGAAAGCGCCGGGGGCGTGGGCTGTGCTGGGCCCCAGGCCCCAGCCGCGCGTCCCAGACCCCGCGGGCTCCAGTGGGCTTAGCCAGGCCCAGGGGCGGGGGGCTCCAGCGCCGCGGACGGCCCGGGAGGGGAAGCCAGGCGGAGACAGCTCGGAGGCACAGAGGGGAAGGGGACCCCCGCCGCGAGCTCGGGAGAGCAGAGCCGGCCCGGGCAGCAGGTGTGGGCCGGGTCCCGGACAGGTGTCCGCCGAGTCTTCAGCGGGTGTGGGACACGGCCTTGGACAGATGTAAGCAGAGCGCCAACAGGAGCAAGGGCGCCTCGAGCAGGTGCACGCTGAACCCCGGCCCGGCAGCGGACCCGGACAGGTGTGGCGGGCTCCGCCCGGACAGGTGAGGGCCGGGCGAGCCCCTCCGCGGGACGCGCCGACTCCACGGCCAGCCGCGCAGCCCTCCCCGCAGCCGGTCCGAATTGCCTGACCGGGAGCCCCCCCGCTTTGCACTTACACAGCCGGTGGCCCCGGGCCCGGAGCGGGAGCCCACGACCTGGCGGGCAGCGGGGCCGAGCAGCCTCTGCGGCCACTTCCCAGGCTCTGGGCTGGCGCTTCCTACTGGCGGCCGAGCCGGCGCTGCTCCTGCGCGTGCGCGGAGGCCAGGCCTGGGCCCCCGATCCGTCCCGGGTTTTGCAAGAGACGCGAGGGAAGCAAGGGGGTAGGAGCGAGGGAGAAAAGAGGAAGGAGGAGCGAGGGAGAGAAGAGGGGACAGGGAGGGAGGGGACATGGGGAGGGAGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGGAGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGTAGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGCGGGGGACAGGGAGAGGGTGGAGGAGGGAGGAGGGAGGGAAAAAGGAGGGGTGAAAGGAGGGAGGAAGAGGAGGAGGGAAGGAGGGAGATGGAGGGAGATGGAGCGAGGAGGGAGGGAGGGACCGGAGCAAGAGAACAGAGACTAGGAGGAAAGCTTCTGCACCTGGGGCGGCGCAGCTGGAAGGAGGCCCAGTTCTGTCCCCGCCGCTTACCAGTCCTTCAGGGCGCGCAGCTCAAATTTCACTTCCTCTGTGAAGCTCAGGGGTGGAGGCCCCGCGGAAGCCCACTGTGGATCCCTGCGGCACCCCCTGTGACCCTCACGGTACCCCCCGTGACTCCCACGGTCGTGCCCCCCACGTGGGTGGGTGACCGTGGCGCGCGCGGCCTGGGAGCGCCTCCAGGATCGCAGGGCCCGGGAGGCACGTGAGGTGCGAGCCCCAGCCTGGGCCGGCTTCCCCCTGTGTGGCGCGCGGTCTTGATCCCCAGCTGGCACCATGGCACTCCCGACTTTGAGGGCCCCAACAATCCATCCACATAAAAGGTTCCAAAGAGGCGACAGGGGCTAGGACAGCTGTCGTTAGTTCAGTGCCAAGGCGCCAAGCTTGCTAAGTGCGGGCAGAAGCCATTTAAGGATTTAAACCCCTCTGGGTTCAAAAATAAAATAAAATAAAGCAGGAGATGGGGGAGGCTTACAGACTTAAGATGCCCAGCACATGAATTAACAGTGGCATCCGCAGGGAAAATTGAAAACAGAGAGCCGCTCTCCGTTATGTATGTTTAATGTTCTGTTTGAATCTTTTAACATGTACATGTATTTCTTTTTCAATTAAAAAATCCTGGCCAGGAGAAATGGCTCACACCTGTAATCCCAACACTTTGGGAGACTGAGGCGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGACAGAGGTTTCAGTGAGCCGAGATCATGCGATTGCACTCCAGCCTGGGCAACAACTGCAAAACTCTATCTCAAACAACAACAACAACAAACACTAAAAAGGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCATCCTGGGCAACATGGTGAAACTCCAGTCTCCACTAAAAATACAAAAATTAGTTGAGCGTGGTGGTACATGCCTGTAATCCCAGCTACTAGGCAGTCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGGGGCTGCAGTAAACCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGAGAGCCCATCTCAAAAAAAAAAAAAAAAAAAATCCTAAAATGGAAAAGTAAAGAGGACAGGAGTGGTTTTCTCAGCACATACAGCAGCAAGGGAGAAATGGTCTGAGCCAGCATTTTTCCTTTCAGCCAGCAGGCACTTACCCGCTCTGGGCTATGTGACCAGGGCTGTTTTATTATCACATGTGTTATAAAATAAGATACTATCCCTCATCCCTGCTCAGGGCTAGTGGAAAACCAATTGAGTTTTTATTGAATTATTTTCTACAGAGTCAGAATGAGTTATAAATAAAACATATCTTCAGGGCAAAACAAATAGAGCTGATTTCCAGCCTGCCAGACAGCCAGGAAGTTTTCAACAGAGGTGCCCAGGGGCTGAGGAAGAGTGTCTCCCTGACAACGCACAAGCTGCCCAACGTGGCTACCTCATGGTGTTACGACCGCATGGAGGCCGTGCAGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGACGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACACAGGGAAACTCTGTCTCTTGGAAAAAATACCAAAATTAGCTGGGCAGGATGGCACAAACCTGTAGCCACAGCTACTCAGGAGACTGAGGCAAGAGGATCGCTTGAGTCCAGCCAGGTCGAGGCTGCAGTAAACCATGATCACTCTAGCCTGGGAGAGACAGCAAGACCCTGTCTCAAAAAAAAAGTGGTTTTTTTTATTTTTTTTAAATGAATAAATAAACAAAAGAGCGTATGGGCTTAACAGAGAATACAGAAAAGATACATTTAAAAGGCCACTGCTAATGGAGGTCTGAGTGCAGAAACTAGGCTCCAAGCTTACCTCATAAGATCCAAGCAAGGGAGCTATTTTTAGTGCTGAAGTCCAGAAAGGATACCCTACTTGGCTGGGGTCACACA | TGAACCCAGGAGGCGGAGGGTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCCAGGCGACAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAATCACTGAATTGTACACTTTAAAGCAGTGGATTTTATGGCAGGTAATCGAGGCTCAATGAAGCTGTTATTTTTGACACACTAGATTTCTGAAACATTTATTGTTTACATGTTTCCGGACAACTGTTTTTCCCTCTACACTACTAGTCCTCCACACAATTAAAAAAACGAACAAACACACACAACAAAACCTAGCCAGATCTTTAGGACGGCAATGTTCCTGGGCCTCCAACATCATCCACCCGGTGCTTTGTTTCAGGTTAACAAATAAAGATGTCATAGGTAGCTATGACTACCTTAGAAACACGGGACAGTCACCAGTTTAAACTGGGGCCGTGAGGGATGGAAGGGAAGTCACTCCCCCATACCTTTCAACTGGGCCTTGCTTCCAGCGTTTTAATTCCTCTCTCTATAGAAACATTTGAAGACAGACAACGCATCCTAACACGGGAAAACTTTCGGTTAACAGACATTCACGTTGGGAAGGTCTGCAGGGGTGGAGGGGATTGGGGTGGGCTGACAGGGAGAAGACCACAGGCCAGTAGCCTGACTTCCTCTCCCCAGGGTTCCCTGGGATAAGTTGGAGTTGACAGCGCGCTTATCCCAGAGAGCACCGCCTGATGCCGCCCAGCTAGATCGCAGGCACTTTGAATCCAGGAGACAGGAGGGAAAGGGCTAGGGGAGAAGTCCGGGAACTCAGGGCGGGGAAAGCGCCGGGGGCGTGGGCTGTGCTGGGCCCCAGGCCCCAGCCGCGCGTCCCAGACCCCGCGGGCTCCAGTGGGCTTAGCCAGGCCCAGGGGCGGGGGGCTCCAGCGCCGCGGACGGCCCGGGAGGGGAAGCCAGGCGGAGACAGCTCGGAGGCACAGAGGGGAAGGGGACCCCCGCCGCGAGCTCGGGAGAGCAGAGCCGGCCCGGGCAGCAGGTGTGGGCCGGGTCCCGGACAGGTGTCCGCCGAGTCTTCAGCGGGTGTGGGACACGGCCTTGGACAGATGTAAGCAGAGCGCCAACAGGAGCAAGGGCGCCTCGAGCAGGTGCACGCTGAACCCCGGCCCGGCAGCGGACCCGGACAGGTGTGGCGGGCTCCGCCCGGACAGGTGAGGGCCGGGCGAGCCCCTCCGCGGGACGCGCCGACTCCACGGCCAGCCGCGCAGCCCTCCCCGCAGCCGGTCCGAATTGCCTGACCGGGAGCCCCCCCGCTTTGCACTTACACAGCCGGTGGCCCCGGGCCCGGAGCGGGAGCCCACGACCTGGCGGGCAGCGGGGCCGAGCAGCCTCTGCGGCCACTTCCCAGGCTCTGGGCTGGCGCTTCCTACTGGCGGCCGAGCCGGCGCTGCTCCTGCGCGTGCGCGGAGGCCAGGCCTGGGCCCCCGATCCGTCCCGGGTTTTGCAAGAGACGCGAGGGAAGCAAGGGGGTAGGAGCGAGGGAGAAAAGAGGAAGGAGGAGCGAGGGAGAGAAGAGGGGACAGGGAGGGAGGGGACATGGGGAGGGAGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGGAGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGTAGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGCGGGGGACAGGGAGAGGGTGGAGGAGGGAGGAGGGAGGGAAAAAGGAGGGGTGAAAGGAGGGAGGAAGAGGAGGAGGGAAGGAGGGAGATGGAGGGAGATGGAGCGAGGAGGGAGGGAGGGACCGGAGCAAGAGAACAGAGACTAGGAGGAAAGCTTCTGCACCTGGGGCGGCGCAGCTGGAAGGAGGCCCAGTTCTGTCCCCGCCGCTTACCAGTCCTTCAGGGCGCGCAGCTCAAATTTCACTTCCTCTGTGAAGCTCAGGGGTGGAGGCCCCGCGGAAGCCCACTGTGGATCCCTGCGGCACCCCCTGTGACCCTCACGGTACCCCCCGTGACCCTCACGGTACCCCCCGTGACTCCCACGGTCGTGCCCCCCACGTGGGTGGGTGACCGTGGCGCGCGCGGCCTGGGAGCGCCTCCAGGATCGCAGGGCCCGGGAGGCACGTGAGGTGCGAGCCCCAGCCTGGGCCGGCTTCCCCCTGTGTGGCGCGCGGTCTTGATCCCCAGCTGGCACCATGGCACTCCCGACTTTGAGGGCCCCAACAATCCATCCACATAAAAGGTTCCAAAGAGGCGACAGGGGCTAGGACAGCTGTCGTTAGTTCAGTGCCAAGGCGCCAAGCTTGCTAAGTGCGGGCAGAAGCCATTTAAGGATTTAAACCCCTCTGGGTTCAAAAATAAAATAAAATAAAGCAGGAGATGGGGGAGGCTTACAGACTTAAGATGCCCAGCACATGAATTAACAGTGGCATCCGCAGGGAAAATTGAAAACAGAGAGCCGCTCTCCGTTATGTATGTTTAATGTTCTGTTTGAATCTTTTAACATGTACATGTATTTCTTTTTCAATTAAAAAATCCTGGCCAGGAGAAATGGCTCACACCTGTAATCCCAACACTTTGGGAGACTGAGGCGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGACAGAGGTTTCAGTGAGCCGAGATCATGCGATTGCACTCCAGCCTGGGCAACAACTGCAAAACTCTATCTCAAACAACAACAACAACAAACACTAAAAAGGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCATCCTGGGCAACATGGTGAAACTCCAGTCTCCACTAAAAATACAAAAATTAGTTGAGCGTGGTGGTACATGCCTGTAATCCCAGCTACTAGGCAGTCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGGGGCTGCAGTAAACCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGAGAGCCCATCTCAAAAAAAAAAAAAAAAAAAATCCTAAAATGGAAAAGTAAAGAGGACAGGAGTGGTTTTCTCAGCACATACAGCAGCAAGGGAGAAATGGTCTGAGCCAGCATTTTTCCTTTCAGCCAGCAGGCACTTACCCGCTCTGGGCTATGTGACCAGGGCTGTTTTATTATCACATGTGTTATAAAATAAGATACTATCCCTCATCCCTGCTCAGGGCTAGTGGAAAACCAATTGAGTTTTTATTGAATTATTTTCTACAGAGTCAGAATGAGTTATAAATAAAACATATCTTCAGGGCAAAACAAATAGAGCTGATTTCCAGCCTGCCAGACAGCCAGGAAGTTTTCAACAGAGGTGCCCAGGGGCTGAGGAAGAGTGTCTCCCTGACAACGCACAAGCTGCCCAACGTGGCTACCTCATGGTGTTACGACCGCATGGAGGCCGTGCAGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGACGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACACAGGGAAACTCTGTCTCTTGGAAAAAATACCAAAATTAGCTGGGCAGGATGGCACAAACCTGTAGCCACAGCTACTCAGGAGACTGAGGCAAGAGGATCGCTTGAGTCCAGCCAGGTCGAGGCTGCAGTAAACCATGATCACTCTAGCCTGGGAGAGACAGCAAGACCCTGTCTCAAAAAAAAAGTGGTTTTTTTTATTTTTTTTAAATGAATAAATAAACAAAAGAGCGTATGGGCTTAACAGAGAATACAGAAAAGATACATTTAAAAGGCCACTGCTAATGGAGGTCTGAGTGCAGAAACTAGGCTCCAAGCTTACCTCATAAGATCCAAGCAAGGGAGCTATTTTTAGTGCTGAAGTCCAGAAAGGATACC | benign | 139,560 |
Is the genetic change at chromosome 8, position 140458393, within gene TRAPPC9 (trafficking protein particle complex subunit 9) benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Intellectual_disability,_autosomal_recessive_13'] | GAGGGTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCCAGGCGACAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAATCACTGAATTGTACACTTTAAAGCAGTGGATTTTATGGCAGGTAATCGAGGCTCAATGAAGCTGTTATTTTTGACACACTAGATTTCTGAAACATTTATTGTTTACATGTTTCCGGACAACTGTTTTTCCCTCTACACTACTAGTCCTCCACACAATTAAAAAAACGAACAAACACACACAACAAAACCTAGCCAGATCTTTAGGACGGCAATGTTCCTGGGCCTCCAACATCATCCACCCGGTGCTTTGTTTCAGGTTAACAAATAAAGATGTCATAGGTAGCTATGACTACCTTAGAAACACGGGACAGTCACCAGTTTAAACTGGGGCCGTGAGGGATGGAAGGGAAGTCACTCCCCCATACCTTTCAACTGGGCCTTGCTTCCAGCGTTTTAATTCCTCTCTCTATAGAAACATTTGAAGACAGACAACGCATCCTAACACGGGAAAACTTTCGGTTAACAGACATTCACGTTGGGAAGGTCTGCAGGGGTGGAGGGGATTGGGGTGGGCTGACAGGGAGAAGACCACAGGCCAGTAGCCTGACTTCCTCTCCCCAGGGTTCCCTGGGATAAGTTGGAGTTGACAGCGCGCTTATCCCAGAGAGCACCGCCTGATGCCGCCCAGCTAGATCGCAGGCACTTTGAATCCAGGAGACAGGAGGGAAAGGGCTAGGGGAGAAGTCCGGGAACTCAGGGCGGGGAAAGCGCCGGGGGCGTGGGCTGTGCTGGGCCCCAGGCCCCAGCCGCGCGTCCCAGACCCCGCGGGCTCCAGTGGGCTTAGCCAGGCCCAGGGGCGGGGGGCTCCAGCGCCGCGGACGGCCCGGGAGGGGAAGCCAGGCGGAGACAGCTCGGAGGCACAGAGGGGAAGGGGACCCCCGCCGCGAGCTCGGGAGAGCAGAGCCGGCCCGGGCAGCAGGTGTGGGCCGGGTCCCGGACAGGTGTCCGCCGAGTCTTCAGCGGGTGTGGGACACGGCCTTGGACAGATGTAAGCAGAGCGCCAACAGGAGCAAGGGCGCCTCGAGCAGGTGCACGCTGAACCCCGGCCCGGCAGCGGACCCGGACAGGTGTGGCGGGCTCCGCCCGGACAGGTGAGGGCCGGGCGAGCCCCTCCGCGGGACGCGCCGACTCCACGGCCAGCCGCGCAGCCCTCCCCGCAGCCGGTCCGAATTGCCTGACCGGGAGCCCCCCCGCTTTGCACTTACACAGCCGGTGGCCCCGGGCCCGGAGCGGGAGCCCACGACCTGGCGGGCAGCGGGGCCGAGCAGCCTCTGCGGCCACTTCCCAGGCTCTGGGCTGGCGCTTCCTACTGGCGGCCGAGCCGGCGCTGCTCCTGCGCGTGCGCGGAGGCCAGGCCTGGGCCCCCGATCCGTCCCGGGTTTTGCAAGAGACGCGAGGGAAGCAAGGGGGTAGGAGCGAGGGAGAAAAGAGGAAGGAGGAGCGAGGGAGAGAAGAGGGGACAGGGAGGGAGGGGACATGGGGAGGGAGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGGAGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGTAGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGCGGGGGACAGGGAGAGGGTGGAGGAGGGAGGAGGGAGGGAAAAAGGAGGGGTGAAAGGAGGGAGGAAGAGGAGGAGGGAAGGAGGGAGATGGAGGGAGATGGAGCGAGGAGGGAGGGAGGGACCGGAGCAAGAGAACAGAGACTAGGAGGAAAGCTTCTGCACCTGGGGCGGCGCAGCTGGAAGGAGGCCCAGTTCTGTCCCCGCCGCTTACCAGTCCTTCAGGGCGCGCAGCTCAAATTTCACTTCCTCTGTGAAGCTCAGGGGTGGAGGCCCCGCGGAAGCCCACTGTGGATCCCTGCGGCACCCCCTGTGACCCTCACGGTACCCCCCGTGACTCCCACGGTCGTGCCCCCCACGTGGGTGGGTGACCGTGGCGCGCGCGGCCTGGGAGCGCCTCCAGGATCGCAGGGCCCGGGAGGCACGTGAGGTGCGAGCCCCAGCCTGGGCCGGCTTCCCCCTGTGTGGCGCGCGGTCTTGATCCCCAGCTGGCACCATGGCACTCCCGACTTTGAGGGCCCCAACAATCCATCCACATAAAAGGTTCCAAAGAGGCGACAGGGGCTAGGACAGCTGTCGTTAGTTCAGTGCCAAGGCGCCAAGCTTGCTAAGTGCGGGCAGAAGCCATTTAAGGATTTAAACCCCTCTGGGTTCAAAAATAAAATAAAATAAAGCAGGAGATGGGGGAGGCTTACAGACTTAAGATGCCCAGCACATGAATTAACAGTGGCATCCGCAGGGAAAATTGAAAACAGAGAGCCGCTCTCCGTTATGTATGTTTAATGTTCTGTTTGAATCTTTTAACATGTACATGTATTTCTTTTTCAATTAAAAAATCCTGGCCAGGAGAAATGGCTCACACCTGTAATCCCAACACTTTGGGAGACTGAGGCGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGACAGAGGTTTCAGTGAGCCGAGATCATGCGATTGCACTCCAGCCTGGGCAACAACTGCAAAACTCTATCTCAAACAACAACAACAACAAACACTAAAAAGGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCATCCTGGGCAACATGGTGAAACTCCAGTCTCCACTAAAAATACAAAAATTAGTTGAGCGTGGTGGTACATGCCTGTAATCCCAGCTACTAGGCAGTCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGGGGCTGCAGTAAACCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGAGAGCCCATCTCAAAAAAAAAAAAAAAAAAAATCCTAAAATGGAAAAGTAAAGAGGACAGGAGTGGTTTTCTCAGCACATACAGCAGCAAGGGAGAAATGGTCTGAGCCAGCATTTTTCCTTTCAGCCAGCAGGCACTTACCCGCTCTGGGCTATGTGACCAGGGCTGTTTTATTATCACATGTGTTATAAAATAAGATACTATCCCTCATCCCTGCTCAGGGCTAGTGGAAAACCAATTGAGTTTTTATTGAATTATTTTCTACAGAGTCAGAATGAGTTATAAATAAAACATATCTTCAGGGCAAAACAAATAGAGCTGATTTCCAGCCTGCCAGACAGCCAGGAAGTTTTCAACAGAGGTGCCCAGGGGCTGAGGAAGAGTGTCTCCCTGACAACGCACAAGCTGCCCAACGTGGCTACCTCATGGTGTTACGACCGCATGGAGGCCGTGCAGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGACGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACACAGGGAAACTCTGTCTCTTGGAAAAAATACCAAAATTAGCTGGGCAGGATGGCACAAACCTGTAGCCACAGCTACTCAGGAGACTGAGGCAAGAGGATCGCTTGAGTCCAGCCAGGTCGAGGCTGCAGTAAACCATGATCACTCTAGCCTGGGAGAGACAGCAAGACCCTGTCTCAAAAAAAAAGTGGTTTTTTTTATTTTTTTTAAATGAATAAATAAACAAAAGAGCGTATGGGCTTAACAGAGAATACAGAAAAGATACATTTAAAAGGCCACTGCTAATGGAGGTCTGAGTGCAGAAACTAGGCTCCAAGCTTACCTCATAAGATCCAAGCAAGGGAGCTATTTTTAGTGCTGAAGTCCAGAAAGGATACCCTACTTGGCTGGGGTCACACAAATGGCTGGTGCTAT | GAGGGTGCAGTGAGCCAAGATCGTGCCATTGCACTCCAGCCCAGGCGACAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAGAAAAATCACTGAATTGTACACTTTAAAGCAGTGGATTTTATGGCAGGTAATCGAGGCTCAATGAAGCTGTTATTTTTGACACACTAGATTTCTGAAACATTTATTGTTTACATGTTTCCGGACAACTGTTTTTCCCTCTACACTACTAGTCCTCCACACAATTAAAAAAACGAACAAACACACACAACAAAACCTAGCCAGATCTTTAGGACGGCAATGTTCCTGGGCCTCCAACATCATCCACCCGGTGCTTTGTTTCAGGTTAACAAATAAAGATGTCATAGGTAGCTATGACTACCTTAGAAACACGGGACAGTCACCAGTTTAAACTGGGGCCGTGAGGGATGGAAGGGAAGTCACTCCCCCATACCTTTCAACTGGGCCTTGCTTCCAGCGTTTTAATTCCTCTCTCTATAGAAACATTTGAAGACAGACAACGCATCCTAACACGGGAAAACTTTCGGTTAACAGACATTCACGTTGGGAAGGTCTGCAGGGGTGGAGGGGATTGGGGTGGGCTGACAGGGAGAAGACCACAGGCCAGTAGCCTGACTTCCTCTCCCCAGGGTTCCCTGGGATAAGTTGGAGTTGACAGCGCGCTTATCCCAGAGAGCACCGCCTGATGCCGCCCAGCTAGATCGCAGGCACTTTGAATCCAGGAGACAGGAGGGAAAGGGCTAGGGGAGAAGTCCGGGAACTCAGGGCGGGGAAAGCGCCGGGGGCGTGGGCTGTGCTGGGCCCCAGGCCCCAGCCGCGCGTCCCAGACCCCGCGGGCTCCAGTGGGCTTAGCCAGGCCCAGGGGCGGGGGGCTCCAGCGCCGCGGACGGCCCGGGAGGGGAAGCCAGGCGGAGACAGCTCGGAGGCACAGAGGGGAAGGGGACCCCCGCCGCGAGCTCGGGAGAGCAGAGCCGGCCCGGGCAGCAGGTGTGGGCCGGGTCCCGGACAGGTGTCCGCCGAGTCTTCAGCGGGTGTGGGACACGGCCTTGGACAGATGTAAGCAGAGCGCCAACAGGAGCAAGGGCGCCTCGAGCAGGTGCACGCTGAACCCCGGCCCGGCAGCGGACCCGGACAGGTGTGGCGGGCTCCGCCCGGACAGGTGAGGGCCGGGCGAGCCCCTCCGCGGGACGCGCCGACTCCACGGCCAGCCGCGCAGCCCTCCCCGCAGCCGGTCCGAATTGCCTGACCGGGAGCCCCCCCGCTTTGCACTTACACAGCCGGTGGCCCCGGGCCCGGAGCGGGAGCCCACGACCTGGCGGGCAGCGGGGCCGAGCAGCCTCTGCGGCCACTTCCCAGGCTCTGGGCTGGCGCTTCCTACTGGCGGCCGAGCCGGCGCTGCTCCTGCGCGTGCGCGGAGGCCAGGCCTGGGCCCCCGATCCGTCCCGGGTTTTGCAAGAGACGCGAGGGAAGCAAGGGGGTAGGAGCGAGGGAGAAAAGAGGAAGGAGGAGCGAGGGAGAGAAGAGGGGACAGGGAGGGAGGGGACATGGGGAGGGAGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGGAGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGTAGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGCGGGGGACAGGGAGAGGGTGGAGGAGGGAGGAGGGAGGGAAAAAGGAGGGGTGAAAGGAGGGAGGAAGAGGAGGAGGGAAGGAGGGAGATGGAGGGAGATGGAGCGAGGAGGGAGGGAGGGACCGGAGCAAGAGAACAGAGACTAGGAGGAAAGCTTCTGCACCTGGGGCGGCGCAGCTGGAAGGAGGCCCAGTTCTGTCCCCGCCGCTTACCAGTCCTTCAGGGCGCGCAGCTCAAATTTCACTTCCTCTGTGAAGCTCAGGGGTGGAGGCCCCGCGGAAGCCCACTGTGGATCCCTGCGGCACCCCCTGTGACCCTCACGGTACCCCCCCGTGACTCCCACGGTCGTGCCCCCCACGTGGGTGGGTGACCGTGGCGCGCGCGGCCTGGGAGCGCCTCCAGGATCGCAGGGCCCGGGAGGCACGTGAGGTGCGAGCCCCAGCCTGGGCCGGCTTCCCCCTGTGTGGCGCGCGGTCTTGATCCCCAGCTGGCACCATGGCACTCCCGACTTTGAGGGCCCCAACAATCCATCCACATAAAAGGTTCCAAAGAGGCGACAGGGGCTAGGACAGCTGTCGTTAGTTCAGTGCCAAGGCGCCAAGCTTGCTAAGTGCGGGCAGAAGCCATTTAAGGATTTAAACCCCTCTGGGTTCAAAAATAAAATAAAATAAAGCAGGAGATGGGGGAGGCTTACAGACTTAAGATGCCCAGCACATGAATTAACAGTGGCATCCGCAGGGAAAATTGAAAACAGAGAGCCGCTCTCCGTTATGTATGTTTAATGTTCTGTTTGAATCTTTTAACATGTACATGTATTTCTTTTTCAATTAAAAAATCCTGGCCAGGAGAAATGGCTCACACCTGTAATCCCAACACTTTGGGAGACTGAGGCGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGACAGAGGTTTCAGTGAGCCGAGATCATGCGATTGCACTCCAGCCTGGGCAACAACTGCAAAACTCTATCTCAAACAACAACAACAACAAACACTAAAAAGGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCATCCTGGGCAACATGGTGAAACTCCAGTCTCCACTAAAAATACAAAAATTAGTTGAGCGTGGTGGTACATGCCTGTAATCCCAGCTACTAGGCAGTCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGGGGCTGCAGTAAACCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGAGAGCCCATCTCAAAAAAAAAAAAAAAAAAAATCCTAAAATGGAAAAGTAAAGAGGACAGGAGTGGTTTTCTCAGCACATACAGCAGCAAGGGAGAAATGGTCTGAGCCAGCATTTTTCCTTTCAGCCAGCAGGCACTTACCCGCTCTGGGCTATGTGACCAGGGCTGTTTTATTATCACATGTGTTATAAAATAAGATACTATCCCTCATCCCTGCTCAGGGCTAGTGGAAAACCAATTGAGTTTTTATTGAATTATTTTCTACAGAGTCAGAATGAGTTATAAATAAAACATATCTTCAGGGCAAAACAAATAGAGCTGATTTCCAGCCTGCCAGACAGCCAGGAAGTTTTCAACAGAGGTGCCCAGGGGCTGAGGAAGAGTGTCTCCCTGACAACGCACAAGCTGCCCAACGTGGCTACCTCATGGTGTTACGACCGCATGGAGGCCGTGCAGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGACGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACACAGGGAAACTCTGTCTCTTGGAAAAAATACCAAAATTAGCTGGGCAGGATGGCACAAACCTGTAGCCACAGCTACTCAGGAGACTGAGGCAAGAGGATCGCTTGAGTCCAGCCAGGTCGAGGCTGCAGTAAACCATGATCACTCTAGCCTGGGAGAGACAGCAAGACCCTGTCTCAAAAAAAAAGTGGTTTTTTTTATTTTTTTTAAATGAATAAATAAACAAAAGAGCGTATGGGCTTAACAGAGAATACAGAAAAGATACATTTAAAAGGCCACTGCTAATGGAGGTCTGAGTGCAGAAACTAGGCTCCAAGCTTACCTCATAAGATCCAAGCAAGGGAGCTATTTTTAGTGCTGAAGTCCAGAAAGGATACCCTACTTGGCTGGGGTCACACAAATGGCTGGTGCTA | pathogenic | 139,561 |
Is chromosome 8, position 140458526, gene TRAPPC9 (trafficking protein particle complex subunit 9) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic | ATCGAGGCTCAATGAAGCTGTTATTTTTGACACACTAGATTTCTGAAACATTTATTGTTTACATGTTTCCGGACAACTGTTTTTCCCTCTACACTACTAGTCCTCCACACAATTAAAAAAACGAACAAACACACACAACAAAACCTAGCCAGATCTTTAGGACGGCAATGTTCCTGGGCCTCCAACATCATCCACCCGGTGCTTTGTTTCAGGTTAACAAATAAAGATGTCATAGGTAGCTATGACTACCTTAGAAACACGGGACAGTCACCAGTTTAAACTGGGGCCGTGAGGGATGGAAGGGAAGTCACTCCCCCATACCTTTCAACTGGGCCTTGCTTCCAGCGTTTTAATTCCTCTCTCTATAGAAACATTTGAAGACAGACAACGCATCCTAACACGGGAAAACTTTCGGTTAACAGACATTCACGTTGGGAAGGTCTGCAGGGGTGGAGGGGATTGGGGTGGGCTGACAGGGAGAAGACCACAGGCCAGTAGCCTGACTTCCTCTCCCCAGGGTTCCCTGGGATAAGTTGGAGTTGACAGCGCGCTTATCCCAGAGAGCACCGCCTGATGCCGCCCAGCTAGATCGCAGGCACTTTGAATCCAGGAGACAGGAGGGAAAGGGCTAGGGGAGAAGTCCGGGAACTCAGGGCGGGGAAAGCGCCGGGGGCGTGGGCTGTGCTGGGCCCCAGGCCCCAGCCGCGCGTCCCAGACCCCGCGGGCTCCAGTGGGCTTAGCCAGGCCCAGGGGCGGGGGGCTCCAGCGCCGCGGACGGCCCGGGAGGGGAAGCCAGGCGGAGACAGCTCGGAGGCACAGAGGGGAAGGGGACCCCCGCCGCGAGCTCGGGAGAGCAGAGCCGGCCCGGGCAGCAGGTGTGGGCCGGGTCCCGGACAGGTGTCCGCCGAGTCTTCAGCGGGTGTGGGACACGGCCTTGGACAGATGTAAGCAGAGCGCCAACAGGAGCAAGGGCGCCTCGAGCAGGTGCACGCTGAACCCCGGCCCGGCAGCGGACCCGGACAGGTGTGGCGGGCTCCGCCCGGACAGGTGAGGGCCGGGCGAGCCCCTCCGCGGGACGCGCCGACTCCACGGCCAGCCGCGCAGCCCTCCCCGCAGCCGGTCCGAATTGCCTGACCGGGAGCCCCCCCGCTTTGCACTTACACAGCCGGTGGCCCCGGGCCCGGAGCGGGAGCCCACGACCTGGCGGGCAGCGGGGCCGAGCAGCCTCTGCGGCCACTTCCCAGGCTCTGGGCTGGCGCTTCCTACTGGCGGCCGAGCCGGCGCTGCTCCTGCGCGTGCGCGGAGGCCAGGCCTGGGCCCCCGATCCGTCCCGGGTTTTGCAAGAGACGCGAGGGAAGCAAGGGGGTAGGAGCGAGGGAGAAAAGAGGAAGGAGGAGCGAGGGAGAGAAGAGGGGACAGGGAGGGAGGGGACATGGGGAGGGAGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGGAGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGTAGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGCGGGGGACAGGGAGAGGGTGGAGGAGGGAGGAGGGAGGGAAAAAGGAGGGGTGAAAGGAGGGAGGAAGAGGAGGAGGGAAGGAGGGAGATGGAGGGAGATGGAGCGAGGAGGGAGGGAGGGACCGGAGCAAGAGAACAGAGACTAGGAGGAAAGCTTCTGCACCTGGGGCGGCGCAGCTGGAAGGAGGCCCAGTTCTGTCCCCGCCGCTTACCAGTCCTTCAGGGCGCGCAGCTCAAATTTCACTTCCTCTGTGAAGCTCAGGGGTGGAGGCCCCGCGGAAGCCCACTGTGGATCCCTGCGGCACCCCCTGTGACCCTCACGGTACCCCCCGTGACTCCCACGGTCGTGCCCCCCACGTGGGTGGGTGACCGTGGCGCGCGCGGCCTGGGAGCGCCTCCAGGATCGCAGGGCCCGGGAGGCACGTGAGGTGCGAGCCCCAGCCTGGGCCGGCTTCCCCCTGTGTGGCGCGCGGTCTTGATCCCCAGCTGGCACCATGGCACTCCCGACTTTGAGGGCCCCAACAATCCATCCACATAAAAGGTTCCAAAGAGGCGACAGGGGCTAGGACAGCTGTCGTTAGTTCAGTGCCAAGGCGCCAAGCTTGCTAAGTGCGGGCAGAAGCCATTTAAGGATTTAAACCCCTCTGGGTTCAAAAATAAAATAAAATAAAGCAGGAGATGGGGGAGGCTTACAGACTTAAGATGCCCAGCACATGAATTAACAGTGGCATCCGCAGGGAAAATTGAAAACAGAGAGCCGCTCTCCGTTATGTATGTTTAATGTTCTGTTTGAATCTTTTAACATGTACATGTATTTCTTTTTCAATTAAAAAATCCTGGCCAGGAGAAATGGCTCACACCTGTAATCCCAACACTTTGGGAGACTGAGGCGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGACAGAGGTTTCAGTGAGCCGAGATCATGCGATTGCACTCCAGCCTGGGCAACAACTGCAAAACTCTATCTCAAACAACAACAACAACAAACACTAAAAAGGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCATCCTGGGCAACATGGTGAAACTCCAGTCTCCACTAAAAATACAAAAATTAGTTGAGCGTGGTGGTACATGCCTGTAATCCCAGCTACTAGGCAGTCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGGGGCTGCAGTAAACCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGAGAGCCCATCTCAAAAAAAAAAAAAAAAAAAATCCTAAAATGGAAAAGTAAAGAGGACAGGAGTGGTTTTCTCAGCACATACAGCAGCAAGGGAGAAATGGTCTGAGCCAGCATTTTTCCTTTCAGCCAGCAGGCACTTACCCGCTCTGGGCTATGTGACCAGGGCTGTTTTATTATCACATGTGTTATAAAATAAGATACTATCCCTCATCCCTGCTCAGGGCTAGTGGAAAACCAATTGAGTTTTTATTGAATTATTTTCTACAGAGTCAGAATGAGTTATAAATAAAACATATCTTCAGGGCAAAACAAATAGAGCTGATTTCCAGCCTGCCAGACAGCCAGGAAGTTTTCAACAGAGGTGCCCAGGGGCTGAGGAAGAGTGTCTCCCTGACAACGCACAAGCTGCCCAACGTGGCTACCTCATGGTGTTACGACCGCATGGAGGCCGTGCAGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGACGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACACAGGGAAACTCTGTCTCTTGGAAAAAATACCAAAATTAGCTGGGCAGGATGGCACAAACCTGTAGCCACAGCTACTCAGGAGACTGAGGCAAGAGGATCGCTTGAGTCCAGCCAGGTCGAGGCTGCAGTAAACCATGATCACTCTAGCCTGGGAGAGACAGCAAGACCCTGTCTCAAAAAAAAAGTGGTTTTTTTTATTTTTTTTAAATGAATAAATAAACAAAAGAGCGTATGGGCTTAACAGAGAATACAGAAAAGATACATTTAAAAGGCCACTGCTAATGGAGGTCTGAGTGCAGAAACTAGGCTCCAAGCTTACCTCATAAGATCCAAGCAAGGGAGCTATTTTTAGTGCTGAAGTCCAGAAAGGATACCCTACTTGGCTGGGGTCACACAAATGGCTGGTGCTATTTAGGGATTCAAATCCAGGGCTGTCAGACCCCACAGACTCTACTTTTTGCATAGGTCTTTTCTTATTCTGTCTGTAAGTGGATAAGGCAAGCAACTTGGAAAGCAAGATTGAAAGCTGGCAAAAGGAAACATT | ATCGAGGCTCAATGAAGCTGTTATTTTTGACACACTAGATTTCTGAAACATTTATTGTTTACATGTTTCCGGACAACTGTTTTTCCCTCTACACTACTAGTCCTCCACACAATTAAAAAAACGAACAAACACACACAACAAAACCTAGCCAGATCTTTAGGACGGCAATGTTCCTGGGCCTCCAACATCATCCACCCGGTGCTTTGTTTCAGGTTAACAAATAAAGATGTCATAGGTAGCTATGACTACCTTAGAAACACGGGACAGTCACCAGTTTAAACTGGGGCCGTGAGGGATGGAAGGGAAGTCACTCCCCCATACCTTTCAACTGGGCCTTGCTTCCAGCGTTTTAATTCCTCTCTCTATAGAAACATTTGAAGACAGACAACGCATCCTAACACGGGAAAACTTTCGGTTAACAGACATTCACGTTGGGAAGGTCTGCAGGGGTGGAGGGGATTGGGGTGGGCTGACAGGGAGAAGACCACAGGCCAGTAGCCTGACTTCCTCTCCCCAGGGTTCCCTGGGATAAGTTGGAGTTGACAGCGCGCTTATCCCAGAGAGCACCGCCTGATGCCGCCCAGCTAGATCGCAGGCACTTTGAATCCAGGAGACAGGAGGGAAAGGGCTAGGGGAGAAGTCCGGGAACTCAGGGCGGGGAAAGCGCCGGGGGCGTGGGCTGTGCTGGGCCCCAGGCCCCAGCCGCGCGTCCCAGACCCCGCGGGCTCCAGTGGGCTTAGCCAGGCCCAGGGGCGGGGGGCTCCAGCGCCGCGGACGGCCCGGGAGGGGAAGCCAGGCGGAGACAGCTCGGAGGCACAGAGGGGAAGGGGACCCCCGCCGCGAGCTCGGGAGAGCAGAGCCGGCCCGGGCAGCAGGTGTGGGCCGGGTCCCGGACAGGTGTCCGCCGAGTCTTCAGCGGGTGTGGGACACGGCCTTGGACAGATGTAAGCAGAGCGCCAACAGGAGCAAGGGCGCCTCGAGCAGGTGCACGCTGAACCCCGGCCCGGCAGCGGACCCGGACAGGTGTGGCGGGCTCCGCCCGGACAGGTGAGGGCCGGGCGAGCCCCTCCGCGGGACGCGCCGACTCCACGGCCAGCCGCGCAGCCCTCCCCGCAGCCGGTCCGAATTGCCTGACCGGGAGCCCCCCCGCTTTGCACTTACACAGCCGGTGGCCCCGGGCCCGGAGCGGGAGCCCACGACCTGGCGGGCAGCGGGGCCGAGCAGCCTCTGCGGCCACTTCCCAGGCTCTGGGCTGGCGCTTCCTACTGGCGGCCGAGCCGGCGCTGCTCCTGCGCGTGCGCGGAGGCCAGGCCTGGGCCCCCGATCCGTCCCGGGTTTTGCAAGAGACGCGAGGGAAGCAAGGGGGTAGGAGCGAGGGAGAAAAGAGGAAGGAGGAGCGAGGGAGAGAAGAGGGGACAGGGAGGGAGGGGACATGGGGAGGGAGGAGGAGGAGGGAGGAGGGAGAGAAAAAGGTGGGGTGAAAGAAGGAGGGAGGAGGAGCGAGGGAGAGAAGCGGGGACGGGGAGGGAGGAGGAGGAGAGTAGGAGGAGGAGGGGTGAAAGAAGGAGGGAGGGGCAGCGAGAGAGAGAAGCGGGGGACAGGGAGAGGGTGGAGGAGGGAGGAGGGAGGGAAAAAGGAGGGGTGAAAGGAGGGAGGAAGAGGAGGAGGGAAGGAGGGAGATGGAGGGAGATGGAGCGAGGAGGGAGGGAGGGACCGGAGCAAGAGAACAGAGACTAGGAGGAAAGCTTCTGCACCTGGGGCGGCGCAGCTGGAAGGAGGCCCAGTTCTGTCCCCGCCGCTTACCAGTCCTTCAGGGCGCGCAGCTCAAATTTCACTTCCTCTGTGAAGCTCAGGGGTGGAGGCCCCGCGGAAGCCCACTGTGGATCCCTGCGGCACCCCCTGTGACCCTCACGGTACCCCCCGTGACTCCCACGGTCGTGCCCCCCACGTGGGTGGGTGACCGTGGCGCGCGCGGCCTGGGAGCGCCTCCAGGATCGCAGGGCCCGGGAGGCACGTGAGGTGCGAGCCCCAGCCTGGGCCGGCTTCCCCGTGTGGCGCGCGGTCTTGATCCCCAGCTGGCACCATGGCACTCCCGACTTTGAGGGCCCCAACAATCCATCCACATAAAAGGTTCCAAAGAGGCGACAGGGGCTAGGACAGCTGTCGTTAGTTCAGTGCCAAGGCGCCAAGCTTGCTAAGTGCGGGCAGAAGCCATTTAAGGATTTAAACCCCTCTGGGTTCAAAAATAAAATAAAATAAAGCAGGAGATGGGGGAGGCTTACAGACTTAAGATGCCCAGCACATGAATTAACAGTGGCATCCGCAGGGAAAATTGAAAACAGAGAGCCGCTCTCCGTTATGTATGTTTAATGTTCTGTTTGAATCTTTTAACATGTACATGTATTTCTTTTTCAATTAAAAAATCCTGGCCAGGAGAAATGGCTCACACCTGTAATCCCAACACTTTGGGAGACTGAGGCGGGTGGATCACTTGAGGTTAGGAGTTCAAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTACTAAAAATACAAAATTAGCCAGATGTGGTGGCGCGCGCCTGTAATCCCAGCTACTCAGCAGGCTGAGGCAGGAGAATCGCTTGAACCTGGAAGACAGAGGTTTCAGTGAGCCGAGATCATGCGATTGCACTCCAGCCTGGGCAACAACTGCAAAACTCTATCTCAAACAACAACAACAACAAACACTAAAAAGGGCTGGGTGTGGTGGCTCACACCTGTAATCTCAGCACTTCGGGAAGCCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTCAAGATCATCCTGGGCAACATGGTGAAACTCCAGTCTCCACTAAAAATACAAAAATTAGTTGAGCGTGGTGGTACATGCCTGTAATCCCAGCTACTAGGCAGTCTGAGGCAGGAGAATCTCTTGAACCCGGGAGGCGGGGGCTGCAGTAAACCAAGATCACACCACTGCACTCCAGCCTGGGTGACAGAGAGAGCCCATCTCAAAAAAAAAAAAAAAAAAAATCCTAAAATGGAAAAGTAAAGAGGACAGGAGTGGTTTTCTCAGCACATACAGCAGCAAGGGAGAAATGGTCTGAGCCAGCATTTTTCCTTTCAGCCAGCAGGCACTTACCCGCTCTGGGCTATGTGACCAGGGCTGTTTTATTATCACATGTGTTATAAAATAAGATACTATCCCTCATCCCTGCTCAGGGCTAGTGGAAAACCAATTGAGTTTTTATTGAATTATTTTCTACAGAGTCAGAATGAGTTATAAATAAAACATATCTTCAGGGCAAAACAAATAGAGCTGATTTCCAGCCTGCCAGACAGCCAGGAAGTTTTCAACAGAGGTGCCCAGGGGCTGAGGAAGAGTGTCTCCCTGACAACGCACAAGCTGCCCAACGTGGCTACCTCATGGTGTTACGACCGCATGGAGGCCGTGCAGTGGCTCACAGCTGTAATCCCAGCACTTTGGGAGGCCGAAGCAGACGGATTGCTTGAGCCCAGGAGTTTAAGACCAGCCTGGGCAACACAGGGAAACTCTGTCTCTTGGAAAAAATACCAAAATTAGCTGGGCAGGATGGCACAAACCTGTAGCCACAGCTACTCAGGAGACTGAGGCAAGAGGATCGCTTGAGTCCAGCCAGGTCGAGGCTGCAGTAAACCATGATCACTCTAGCCTGGGAGAGACAGCAAGACCCTGTCTCAAAAAAAAAGTGGTTTTTTTTATTTTTTTTAAATGAATAAATAAACAAAAGAGCGTATGGGCTTAACAGAGAATACAGAAAAGATACATTTAAAAGGCCACTGCTAATGGAGGTCTGAGTGCAGAAACTAGGCTCCAAGCTTACCTCATAAGATCCAAGCAAGGGAGCTATTTTTAGTGCTGAAGTCCAGAAAGGATACCCTACTTGGCTGGGGTCACACAAATGGCTGGTGCTATTTAGGGATTCAAATCCAGGGCTGTCAGACCCCACAGACTCTACTTTTTGCATAGGTCTTTTCTTATTCTGTCTGTAAGTGGATAAGGCAAGCAACTTGGAAAGCAAGATTGAAAGCTGGCAAAAGGAAACATTNN | pathogenic | 139,565 |
Clinical impact (benign or pathogenic) of the variant at chromosome 8, location 142874995, gene CYP11B1: what disease(s) if pathogenic? | pathogenic; ['Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_11-beta-monooxygenase', 'Glucocorticoid-remediable_aldosteronism'] | GAGGTGGGTCCTCACCAGACACAGAACCTGCTGACACCTTGATCTTAGCCTTCTAAGCCTTCAGAACCATGAGAAATAGAATTCTGATGTTTGTCAGCAACCCAGTCTATGGCGTTTTCTTAGAGCATCCTGAATAGATTAACACAAATAACTCTAGCTAGGTGTGCTCCCAACCTGGGGCACTTCATCTCCCTGTACAGGCTGAGTCCTGCAGGGCGTCCTGGATCTACTGACCACCACTGGAATGATGCCATAGGGATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAG | GAGGTGGGTCCTCACCAGACACAGAACCTGCTGACACCTTGATCTTAGCCTTCTAAGCCTTCAGAACCATGAGAAATAGAATTCTGATGTTTGTCAGCAACCCAGTCTATGGCGTTTTCTTAGAGCATCCTGAATAGATTAACACAAATAACTCTAGCTAGGTGTGCTCCCAACCTGGGGCACTTCATCTCCCTGTACAGGCTGAGTCCTGCAGGGCGTCCTGGATCTACTGACCACCACTGGAATGATGCCATAGGGATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAA | pathogenic | 139,649 |
A mutation at chromosome position 142875022 on chromosome 8 in gene CYP11B1: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase'] | CTGCTGACACCTTGATCTTAGCCTTCTAAGCCTTCAGAACCATGAGAAATAGAATTCTGATGTTTGTCAGCAACCCAGTCTATGGCGTTTTCTTAGAGCATCCTGAATAGATTAACACAAATAACTCTAGCTAGGTGTGCTCCCAACCTGGGGCACTTCATCTCCCTGTACAGGCTGAGTCCTGCAGGGCGTCCTGGATCTACTGACCACCACTGGAATGATGCCATAGGGATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGG | CTGCTGACACCTTGATCTTAGCCTTCTAAGCCTTCAGAACCATGAGAAATAGAATTCTGATGTTTGTCAGCAACCCAGTCTATGGCGTTTTCTTAGAGCATCCTGAATAGATTAACACAAATAACTCTAGCTAGGTGTGCTCCCAACCTGGGGCACTTCATCTCCCTGTACAGGCTGAGTCCTGCAGGGCGTCCTGGATCTACTGACCACCACTGGAATGATGCCATAGGGATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGNNNNNNNN | pathogenic | 139,655 |
Evaluate this variant at chromosome 8, position 142875252, gene CYP11B1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['CYP11B1-related_disorder', 'Deficiency_of_steroid_11-beta-monooxygenase', 'Glucocorticoid-remediable_aldosteronism'] | GATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTC | GATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCN | pathogenic | 139,661 |
The mutation in gene CYP11B1 at chromosome 8, position 142875253—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase', 'Glucocorticoid-remediable_aldosteronism'] | ATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCC | ATTTCCCCTTTCATGGGGGAACAAATGCTCTGATCCTCATCAGCCACCAGGAGCTGGCTGCTGTGATCTTTGCCCTGATGAAAATCCATGGAGATAAAGACAGTCTGGCTGGGTACACTCTCAAACTGGGTGCTTCCTCTCCCTGCACGGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGCAGGAAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGAAATGAGTCAATAAAACTCGTCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCCCCAGGGGACAGCACAGGAAGCAGAGGACCCAACACCCACTCCTGGAACAAGGCCTGGTCCATGAAAGATGAGGCCTGGGGCATGAGGCTGACACGATCAGCTGGGGAACACACGTCCCTCGAGACTCAGTTGTATCACTTGAAAATGGGGATGTCAGGACAAGTGACCACAGGGGCCTTTTTATTCTACCCTGCAGGACCCTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTAGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACAGTCTGCGCAGGGGCCCTGGCCAGGGGAAGAGGAACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAACCACAGCACCCTTGTATGGCCACACGAGGAGCCTGGAGCCAGCACTGGGAGGGATGGGGGCAAACTGCCCAGAGGACAGTGCTTGCTGGAGAAAGGGCCAGGTGGGGCTGGGGACAAGGTCAGCAAGATCTTCCCCAGCTGTGCCCTGGCATTGCTGCTTAGCCTGGCAAACCCTGGTCCTAGAGGCCCTCGGGAGTTCCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGT | pathogenic | 139,662 |
Evaluate this variant at chromosome 8, position 142876287, gene CYP11B1: benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase'] | CCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGC | CCATTTGTGCTGGGGCTGGTTAGACAGAGGGGTGACTCAGGAAGCTGTGCATGTGGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCN | pathogenic | 139,700 |
Assess the variant on chromosome 8, position 142876341, impacting CYP11B1: is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase'] | GGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATT | GGGAGAGAAGAGGGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTAGTAGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAA | pathogenic | 139,703 |
Variant at chromosome 8, position 142876353, gene CYP11B1: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase'] | GGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGAC | GGGTGGCCTGGGGTCAGGCAGAAAGGGAGGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGAGACGTGATTAGTTGATGGCTCTGAAGGTGAGGAGGGGGAACATGCTGGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGGGTTAGTGTCTCCACCTGGAGGTGTTTCAGCACCTAGGACAGAAGCCGGGTTTCCATCTGGCTTGGTCCGCAGCCCATGCACGTGGTGCAGCCTTCTCAGACCCTCAAAGTTGCAGAGATTATGCTGAAGGGGGAACAGCAGCCTGGCCTCCAACCTGTTTCATTCCTGACCAGCCCCACCTTACAGCCCAGGCCCAGAATTCATCCAGCCCAGGTATTGCCCAAGCCCCACTATCCTGTACAGGCTCCACCCGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGGTGTACTGTTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTC | pathogenic | 139,704 |
Determine if the mutation at chromosome 8, position 142876754 in gene CYP11B1 is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Congenital_adrenal_hyperplasia', 'Deficiency_of_steroid_11-beta-monooxygenase', 'Glucocorticoid-remediable_aldosteronism'] | CGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCT | CGACTTCCCCAGTTCCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTN | pathogenic | 139,717 |
Chromosome 8, position 142876768, gene CYP11B1: Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase'] | CCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTG | CCCACCTGACCCGGTTTAGCAGCAACCTCACCCAGATGGTACGCTCCTCACCATACCAACTCCTGCCCAGGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATTGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCT | pathogenic | 139,718 |
Is the genetic variant on chromosome 8, position 142876837, gene CYP11B1, benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase'] | GGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGGGCAGACACGACCCCA | GGACCTACACAGCCTCAACCTGGCCCAGGTTCTCCCAGTACCGGCTCTGCCCAGTCCAGGAAACATGCAGGCCACTCCCACTCTGCCGAGGCCAGTCCCACATTGCTCAAGCCCCGCCCATGCTGCCCAGACCCCGCCCAGGCCCCTCCCCAGCCCGGGCCTGCTCACATGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCAAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGGGCAGACACGACCCCANN | pathogenic | 139,721 |
Is the chromosome 8, position 142877065 variant in CYP11B1 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase', 'Glucocorticoid-remediable_aldosteronism'] | GCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGGGCAGACACGACCCCACGGAATGGCCGTCCTCTGGGTCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTGCCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCGCCGCTTACAGCAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGCTCATCCTGTGGGGATGCAGG | GCCAAAGCCAAAGGGCACGTGGTAGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGGTTATAGCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGAGAGTAGAGGAACACGCGCACCAATGTCTGCGGACGGTGCAGAGCGGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCGCCACTCGCTCCAGAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGAACCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTGCTTCCTTGCACCTGCTGAGCCCGGCCAAACCTCCCCTAACTTAAGCAGCCCCGAGCGCAGAAGGACATGCTCCACGTTAATCCCCAGGGCGTTGAAGAGGGATTCCAGAGAAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCACGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGGCCTGCTGCACGTTGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACACCGTCTGCAGGAGACACAGCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTGTGAGGGGTGCAGACATGCATACCCTGAGAACGACAGAGCCCAAGACTTCAAATCCTAATGCCCATCCAAACCCCTTTCCCTGAGTCCTCCACAGAAAGGAACCCCCCATTCCAACCATGGCAACCTGCAAACGTGTTTATCACATCACAATCCCAAGTAAGAAATGTGGGGCCCATAGCCTGGGGATGGGACACGTGGGCGCCGTGTGACATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCCGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCATCTGGCGACAGTTCCGCATTCAACAGGAGCTCCGCCACGATGCTGGTGTACTGTTGAGGGCGGCTGAAGGCCAGTTCCTGATAGATTTTCTGGATACAGTTGTCGCCTATCCGGGGAGCGGGAGGCAGCCCTCAGACTTTGGTGCTGGGAGACATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAGTCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCTGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAGGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGGTCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCCAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCGGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCCCCATCCCCGTCCCTGGCCACTCCAGGGTCTCTGAGGCTGGATCTTCCCACGTGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGGGCAGACACGACCCCACGGAATGGCCGTCCTCTGGGTCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTGCCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCGCCGCTTACAGCAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGCTCATCCTGTGGGGATGCAGGNNNNNNN | pathogenic | 139,731 |
Is the chromosome 8, position 142879082 variant in CYP11B1 (cytochrome P450 family 11 subfamily B member 1) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Deficiency_of_steroid_11-beta-monooxygenase', 'Glucocorticoid-remediable_aldosteronism'] | TAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGGGCAGACACGACCCCACGGAATGGCCGTCCTCTGGGTCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTGCCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCGCCGCTTACAGCAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGCTCATCCTGTGGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTCCACGTCCTCCGGCAGCATCACACACACCATGCCTGCTCCTCCCAAGTCGTACCTGTGGGGCCAAGCACGAGGCCGTGCTGGATGGGACCATGTCCCCGCTAGCCCCACCCTGCAGTCCCAATCCAAAGTGTCTCCTGTCCACCCTCCCCTCTCCTGGATTAGCGGCTTCACAGCTAAAGCCCTCTTGCTGACTGCCCGGAACCTCTTAACTTCAGTGCCTCTGAGTCCTGCCCTCTCTGCAGCGAGCTGGGATTTGCTCTGCACCATCCCCTGCCCTGGCAGCGCCACAGACCAGCACGTGCTGCACTCCTTCCCCATCTTCCAAAGGATGCAGAGTGCCGGGACCTGCTGGGAATGGCAGTGCTGAGTGCCCGGCAGGGTCCTGGGCAGCAAGGGCAGGGCTCTGGGTGTTCCCAGCGAGGGCCAGGGAGGGCTTTACCTGAAAATGGGCCCTAGTTCCTGGAAGGTCTGGTGTACTTCCAGGTGCAGGTCCTCATAACCCTGCTCCCTCCAGATCTGCAGCAGCCTCAGCCACCTGTTGCCTGGACGCCGGGGCATGGCTTCAAAGGGCAGCACTGTCCTGGGGACCCGGGCGGCTCTCGTGCCCAGTGCCTGTGCCCTTTGCAGGGACAGCCAGGGCACTGCCATGCACACCTCTGCCTTTGCCCTGAGTGCCATTCCAATGCTCCCTCCACCCTGTTCAGCTGCAATCCTTTTATCTTGCCTGGTGCCTTGCCTTCGAGAGGGATCACGTCATGGGAGAACTGGCCCTGGATCTGCCTGAGAGACCGAGGGCAGAGGTCAGGGCTGGAGGCAGGGACTCATTGGGGGTGCATGAGCGTAGACAGGGGAAAAGGACTCTCCCTCCTCCTCCAGGGCTGAGAGGAGCAAGATGGATGGGGCCCTTATCTTATCCAAGAGCCTTGGATTATTCATCTCCTTGCAAGGTTTATAGCAAAAAACGAGGGAATGAGTTGGCATGAATTGTATTAAACCACATGTATTTTTTTTACTTTTTAAAAATTTTAGTGCAATCAAACTAGAACTCAGGATTAAGAAACTCACTCAAAACCGCTCAATTACATGGAAACTGAGCAACCTGCTCCTGAATGACTACTGGGTACGTAACAAAATGAAGGCAGAAATAAAGATGTTCTTGAAACCAACGAGAACAAAGACACAGCATACCAGAATCTCTGGAACACATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAACTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAACTAGCAGAAGGCAAGAAATAACTAAAATCAGTGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGATGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACATACACTCTCCCAAGACTAAACCAGTAAGAAGTTGAATCTCTGAATAGACCAATAACAGGATCTGAAATTGTGGCAATAATCAATAGATTACCAACCAAAAAGAGTCCATGACCAGATGGATTCACAGCCGAATTATACCAGACGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAGAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAG | TAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACAGCGTTGGGCGACAGCACTTCTGGATTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGACAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCACCCCAAGTCTGGCACCACCTCACCCATGCAGGCCCTCCCTGTAGTAGGGGGGAGGGATTTTCTGCAAGAAAGGAACTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCGCCCTTCCCTGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCCCAGTGAAGTGTCTGCATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCTACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTTCTGCAAAACTCAAAGCTTTATTTATGTCCAGCTGGCTGTTGTGAGCTGTTGACAGTGATGGCAGGCAGAAGATGCACATGCTCACATGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACACATGTACACATGTGCACAGACACTACACCCATGCCGGCACCTGCACATGCACACACAGAGACACTCGTGCACACACACCACACATACATGCACACAGACACATGTGCACACACGCATGCACACACAACACGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACGCACACACATACAGGTGCGCTCCCCTTCCTTCCGTTATGTGCACCCAGCCTTCTGGACTTGCCTTCCTGGGTCCTGACTCCCTCCCAGATGTCGTCTGTAGGCCAGCCTCAGTGAAGGCCCCCACCCTTGAGTGCCCTTTTACCTAAACCCCACTATTCCCAAAAGCGTTCTCCTCCTGCCATGGAGTGGGGGCTGTCGCCACTGTGACATCCTCGTCCAGTCCTTCCCCCGTCCTAATGACAACATTCCTGCAGGTGACTGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTGCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTCGTGCCTTGCTTCTGAGAACAATGGAGCCACCAGCCACCTGCATCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGCGGCCCCGGCGAACACCAGGCTCAGTACTCAGCCTGTGACCTGGGCCAGTGGGAGTACCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCATCGGCCAAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCATCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGGGCAGACACGACCCCACGGAATGGCCGTCCTCTGGGTCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTGCCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCGCCGCTTACAGCAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTGTCCACCTGTTGCAGCTTCTCCACGTCCTCCGGCAGCATCACACACACCATGCCTGCTCCTCCCAAGTCGTACCTGTGGGGCCAAGCACGAGGCCGTGCTGGATGGGACCATGTCCCCGCTAGCCCCACCCTGCAGTCCCAATCCAAAGTGTCTCCTGTCCACCCTCCCCTCTCCTGGATTAGCGGCTTCACAGCTAAAGCCCTCTTGCTGACTGCCCGGAACCTCTTAACTTCAGTGCCTCTGAGTCCTGCCCTCTCTGCAGCGAGCTGGGATTTGCTCTGCACCATCCCCTGCCCTGGCAGCGCCACAGACCAGCACGTGCTGCACTCCTTCCCCATCTTCCAAAGGATGCAGAGTGCCGGGACCTGCTGGGAATGGCAGTGCTGAGTGCCCGGCAGGGTCCTGGGCAGCAAGGGCAGGGCTCTGGGTGTTCCCAGCGAGGGCCAGGGAGGGCTTTACCTGAAAATGGGCCCTAGTTCCTGGAAGGTCTGGTGTACTTCCAGGTGCAGGTCCTCATAACCCTGCTCCCTCCAGATCTGCAGCAGCCTCAGCCACCTGTTGCCTGGACGCCGGGGCATGGCTTCAAAGGGCAGCACTGTCCTGGGGACCCGGGCGGCTCTCGTGCCCAGTGCCTGTGCCCTTTGCAGGGACAGCCAGGGCACTGCCATGCACACCTCTGCCTTTGCCCTGAGTGCCATTCCAATGCTCCCTCCACCCTGTTCAGCTGCAATCCTTTTATCTTGCCTGGTGCCTTGCCTTCGAGAGGGATCACGTCATGGGAGAACTGGCCCTGGATCTGCCTGAGAGACCGAGGGCAGAGGTCAGGGCTGGAGGCAGGGACTCATTGGGGGTGCATGAGCGTAGACAGGGGAAAAGGACTCTCCCTCCTCCTCCAGGGCTGAGAGGAGCAAGATGGATGGGGCCCTTATCTTATCCAAGAGCCTTGGATTATTCATCTCCTTGCAAGGTTTATAGCAAAAAACGAGGGAATGAGTTGGCATGAATTGTATTAAACCACATGTATTTTTTTTACTTTTTAAAAATTTTAGTGCAATCAAACTAGAACTCAGGATTAAGAAACTCACTCAAAACCGCTCAATTACATGGAAACTGAGCAACCTGCTCCTGAATGACTACTGGGTACGTAACAAAATGAAGGCAGAAATAAAGATGTTCTTGAAACCAACGAGAACAAAGACACAGCATACCAGAATCTCTGGAACACATTCAAAGCAGTGTGTAGAGGGAAATTTATAGCACTAAATGCCCACAAGAGAAAGCAGGAAAGATCCAAAACTGACACCCTAACATCACAATTAAAAGAACTAGAAAAGCAAGAGCAAACACATTCAAAACTAGCAGAAGGCAAGAAATAACTAAAATCAGTGCAGAACTGAAGGAAATAGAGACACAAAAAACCCTTCAAAAAATTAATGAATCCAGGAGCTGGTTTTTTGAAAGGATCAACAAAATTGATAGACCGCTAGCAAGACTAATAAAGAAAAAAAGAGAGAAGAATCAAATAGATGCAATAAAAAATGATAAAGGGGATATCACCACCGATCCCACAGAAATACAAACTACCATCAGAGAATACTACAAACACCTCTACGCAAATAAACTAGAAAATCTAGAAGAAATGGATAAATTCCTCGACACATACACTCTCCCAAGACTAAACCAGTAAGAAGTTGAATCTCTGAATAGACCAATAACAGGATCTGAAATTGTGGCAATAATCAATAGATTACCAACCAAAAAGAGTCCATGACCAGATGGATTCACAGCCGAATTATACCAGACGTACAAGGAGGAACTGGTACCATTCCTTCTGAAACTATTCCAATCAATAGAAAGAGAGGGAATCCTCCCTAACTCATTTTATGAGGCCAGCATCATCCTGATACCAAAGCCGGGCAGAGACACAACCAAAAAAGAGAATTTTAGACCAATATCCTTGATGAACATTGATGCAAAAATCCTCAATAAAATACTGGCAAACCGAATCCAGCAGNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 139,745 |
Is the genetic mutation found on chromosome 8 at position 142912688, within the gene CYP11B2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | ACAAGGAAGCCATCTCTGAGGTCTGTGCACCTTGTTGCCCCCTTATTCCTTTCCCATGCTGCACTGCATTGCCCAGGGTGGGAAAGCAACCTGCGGTCACAGGGTGACTGGCCTGAGTCCCTGAGTCCTGGAACTACTGAACACACCTGGAATGATTACCTAAGTATTTCCCCTTTCATGGGGGAACAAACGCTCTGATCCTCATCAGCTACCAGGAGCTGGCTGCTGAGATCTTTGCCCTAATGAAAATCCCAGGAGATAAAGATGATGTGGCTGGGCACGTTCTCACCCTGGGGCACTTCCTATCCCTGCACAGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGTAGGGAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGGAATGAGTCAATAAAACTCATCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCTCCAGGGGACAGCTCAGGAAGCAGAGGACCCAACACTCGCTGCTTGAACAAGACCTGGTCCATGAAAGACGAGGCCTGGGGCATGAGGCTGACATGATCAGCTGGGGAACACACGCCCCTCGAGACTCAGTTGTATCACTTGAAAATGTGTCAGGATAAGTGACCACAGGGGCCTTTTTAGTCTACCCTGCAGGATCGTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACACTGTCTGCACAGAGGCCCTGGCCAGGGCGAGAGGGACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAATCACAGCACCCTTGCATGGCCTCATGAGGAGCCTGGAGCCAGCGCTGGGAGTAGAGTCAAGCTGTCCAGAGGGCACTGCTTGCTGGAGAAGGGGCCAGGTGGAGCTGGGGACAAGGCCAGGCCCTGCCAGCAAGATCGTCTCCAGCTGTGCCCTGGCCTTGCTATTTGACAAGCCTGGCAAGCCCCAGTCCTGGAGGCCCTGGGGAGTTCCATTTGTGCAGGAGCTGGCTGGACAGAGGGGTGACTCAGGAAGCTGTGCACGTGGGAGAGAAGACAGGTGGCCTGGGGTCAGGCAGAGGGAAGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGATGCAAGACTAGTTAATCGCTCTGAAAGTGAGGAGGGGGGACGTGCCAGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGAGTTAGTGTCTCCACCAGGAAGTGCTTCAGCACCTAGGACAGAGGCTGGGTTTCCATCTGGCCTGGTCAGTAGCCCATGGACCTGGGGCAGCTTCCTCCCATCGTCCCAGGTGCAACAATTATGCTGAAGGGGGAGCAGCAGCCTGGGCCCCAACCTATCCCACTTCTGACCAGCCCCACCTTACGGACCAGGCCCAGACTGAATCCTGCCCAGGTCTTGCCCAAGCCCCATTATTCTGTACAGGCTCCACCCCACTCCCCTAGTCCCCATTTCAATGTTTAGAAGCAGCCTCACCCAGATCCTACCCTGTCTTGCTCAGCACAGATCCTCCCTGGTCACGCCGACCTCAACCAACCAAGGCCCCATCCACTGTTCCCAGGTGTCAATCACACCATGCAAGCCCCGCCCCCAGTGTGCAGGTCCCGCCTCTGCTGCCCAGGTCCCGCCCCCGCCCCCAGGCCTGCTTACGTGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCGAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTGGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGATTATACCGCTCAGGCCTCGGGAACAAGGCGGCATTGCGACCCAGCGAGTAGAGGAAAACCTGTACCAATGTCTGCGGACGGTGCAGAGCAGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCACCACTCGCTCCAAAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGACCCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTACTTCCTTGCACCTGCTGAGCCCAGCCAAACCTCCCCTAACTTGAGAAGCCCCAAGCGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAA | ACAAGGAAGCCATCTCTGAGGTCTGTGCACCTTGTTGCCCCCTTATTCCTTTCCCATGCTGCACTGCATTGCCCAGGGTGGGAAAGCAACCTGCGGTCACAGGGTGACTGGCCTGAGTCCCTGAGTCCTGGAACTACTGAACACACCTGGAATGATTACCTAAGTATTTCCCCTTTCATGGGGGAACAAACGCTCTGATCCTCATCAGCTACCAGGAGCTGGCTGCTGAGATCTTTGCCCTAATGAAAATCCCAGGAGATAAAGATGATGTGGCTGGGCACGTTCTCACCCTGGGGCACTTCCTATCCCTGCACAGGAGCACTGGGGAGTGGCCAGTTCAGGAGGGGTCAACTCTCTCTGCTGGGCTAGGAGCAGATGAGGCCCAAGGCAGGTTCACGTAGGGAACTGCAGCCTCCCTGTGCCCACCCCAGGTCGTGGCACATGACATGGCTCCGTATCAACCAGAGGAATGAGTCAATAAAACTCATCTGAGTCCTTGTTGGCCCAATCCTGTCTCTCCTGTTGCCAAAAACATTTCTGGAACCACACCCCAGGTTCCCACCCCACATGACTCTTCCATCTCCTGACAGCATCCTCGGGACCTTCTCCAGGGGACAGCTCAGGAAGCAGAGGACCCAACACTCGCTGCTTGAACAAGACCTGGTCCATGAAAGACGAGGCCTGGGGCATGAGGCTGACATGATCAGCTGGGGAACACACGCCCCTCGAGACTCAGTTGTATCACTTGAAAATGTGTCAGGATAAGTGACCACAGGGGCCTTTTTAGTCTACCCTGCAGGATCGTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACACTGTCTGCACAGAGGCCCTGGCCAGGGCGAGAGGGACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAATCACAGCACCCTTGCATGGCCTCATGAGGAGCCTGGAGCCAGCGCTGGGAGTAGAGTCAAGCTGTCCAGAGGGCACTGCTTGCTGGAGAAGGGGCCAGGTGGAGCTGGGGACAAGGCCAGGCCCTGCCAGCAAGATCGTCTCCAGCTGTGCCCTGGCCTTGCTATTTGACAAGCCTGGCAAGCCCCAGTCCTGGAGGCCCTGGGGAGTTCCATTTGTGCAGGAGCTGGCTGGACAGAGGGGTGACTCAGGAAGCTGTGCACGTGGGAGAGAAGACAGGTGGCCTGGGGTCAGGCAGAGGGAAGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGATGCAAGACTAGTTAATCGCTCTGAAAGTGAGGAGGGGGGACGTGCCAGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGAGTTAGTGTCTCCACCAGGAAGTGCTTCAGCACCTAGGACAGAGGCTGGGTTTCCATCTGGCCTGGTCAGTAGCCCATGGACCTGGGGCAGCTTCCTCCCATCGTCCCAGGTGCAACAATTATGCTGAAGGGGGAGCAGCAGCCTGGGCCCCAACCTATCCCACTTCTGACCAGCCCCACCTTACGGACCAGGCCCAGACTGAATCCTGCCCAGGTCTTGCCCAAGCCCCATTATTCTGTACAGGCTCCACCCCACTCCCCTAGTCCCCATTTCAATGTTTAGAAGCAGCCTCACCCAGATCCTACCCTGTCTTGCTCAGCACAGATCCTCCCTGGTCACGCCGACCTCAACCAACCAAGGCCCCATCCACTGTTCCCAGGTGTCAATCACACCATGCAAGCCCCGCCCCCAGTGTGCAGGTCCCGCCTCTGCTGCCCAGGTCCCGCCCCCGCCCCCAGGCCTGCTTACGTGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCGAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTGGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGATTATACCGCTCAGGCCTCGGGAACAAGGCGGGGTTGCGACCCAGCGAGTAGAGGAAAACCTGTACCAATGTCTGCGGACGGTGCAGAGCAGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCACCACTCGCTCCAAAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGACCCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTACTTCCTTGCACCTGCTGAGCCCAGCCAAACCTCCCCTAACTTGAGAAGCCCCAAGCGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAA | benign | 139,779 |
Classify the chromosome 8 variant at position 142913403 affecting gene CYP11B2 as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Corticosterone_18-monooxygenase_deficiency', 'Corticosterone_methyloxidase_type_2_deficiency'] | CACACGCCCCTCGAGACTCAGTTGTATCACTTGAAAATGTGTCAGGATAAGTGACCACAGGGGCCTTTTTAGTCTACCCTGCAGGATCGTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACACTGTCTGCACAGAGGCCCTGGCCAGGGCGAGAGGGACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAATCACAGCACCCTTGCATGGCCTCATGAGGAGCCTGGAGCCAGCGCTGGGAGTAGAGTCAAGCTGTCCAGAGGGCACTGCTTGCTGGAGAAGGGGCCAGGTGGAGCTGGGGACAAGGCCAGGCCCTGCCAGCAAGATCGTCTCCAGCTGTGCCCTGGCCTTGCTATTTGACAAGCCTGGCAAGCCCCAGTCCTGGAGGCCCTGGGGAGTTCCATTTGTGCAGGAGCTGGCTGGACAGAGGGGTGACTCAGGAAGCTGTGCACGTGGGAGAGAAGACAGGTGGCCTGGGGTCAGGCAGAGGGAAGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGATGCAAGACTAGTTAATCGCTCTGAAAGTGAGGAGGGGGGACGTGCCAGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGAGTTAGTGTCTCCACCAGGAAGTGCTTCAGCACCTAGGACAGAGGCTGGGTTTCCATCTGGCCTGGTCAGTAGCCCATGGACCTGGGGCAGCTTCCTCCCATCGTCCCAGGTGCAACAATTATGCTGAAGGGGGAGCAGCAGCCTGGGCCCCAACCTATCCCACTTCTGACCAGCCCCACCTTACGGACCAGGCCCAGACTGAATCCTGCCCAGGTCTTGCCCAAGCCCCATTATTCTGTACAGGCTCCACCCCACTCCCCTAGTCCCCATTTCAATGTTTAGAAGCAGCCTCACCCAGATCCTACCCTGTCTTGCTCAGCACAGATCCTCCCTGGTCACGCCGACCTCAACCAACCAAGGCCCCATCCACTGTTCCCAGGTGTCAATCACACCATGCAAGCCCCGCCCCCAGTGTGCAGGTCCCGCCTCTGCTGCCCAGGTCCCGCCCCCGCCCCCAGGCCTGCTTACGTGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCGAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTGGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGATTATACCGCTCAGGCCTCGGGAACAAGGCGGCATTGCGACCCAGCGAGTAGAGGAAAACCTGTACCAATGTCTGCGGACGGTGCAGAGCAGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCACCACTCGCTCCAAAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGACCCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTACTTCCTTGCACCTGCTGAGCCCAGCCAAACCTCCCCTAACTTGAGAAGCCCCAAGCGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCA | CACACGCCCCTCGAGACTCAGTTGTATCACTTGAAAATGTGTCAGGATAAGTGACCACAGGGGCCTTTTTAGTCTACCCTGCAGGATCGTATTCCAGGGTGACAACTTTCAGAGAGCTCAGGGCATGCTCGAGCTGCCTGGGGTCAGGCTGCAGGAGGGAACTTGACTGGACTCTGAGATGCTGGGATCCCGCTTAATGACTCTGACACTGTCTGCACAGAGGCCCTGGCCAGGGCGAGAGGGACAGGGACATGTGAGACTAGGCAGGAAGGCAAGGGACAAAATCACAGCACCCTTGCATGGCCTCATGAGGAGCCTGGAGCCAGCGCTGGGAGTAGAGTCAAGCTGTCCAGAGGGCACTGCTTGCTGGAGAAGGGGCCAGGTGGAGCTGGGGACAAGGCCAGGCCCTGCCAGCAAGATCGTCTCCAGCTGTGCCCTGGCCTTGCTATTTGACAAGCCTGGCAAGCCCCAGTCCTGGAGGCCCTGGGGAGTTCCATTTGTGCAGGAGCTGGCTGGACAGAGGGGTGACTCAGGAAGCTGTGCACGTGGGAGAGAAGACAGGTGGCCTGGGGTCAGGCAGAGGGAAGCTGGTGGCCAGGCTGGGACCCTGGGTGCAGATGCAAGACTAGTTAATCGCTCTGAAAGTGAGGAGGGGGGACGTGCCAGGCCTCAATATGAAGCTGTAGACCATCTTTATGTCCTCTTGAGTTAGTGTCTCCACCAGGAAGTGCTTCAGCACCTAGGACAGAGGCTGGGTTTCCATCTGGCCTGGTCAGTAGCCCATGGACCTGGGGCAGCTTCCTCCCATCGTCCCAGGTGCAACAATTATGCTGAAGGGGGAGCAGCAGCCTGGGCCCCAACCTATCCCACTTCTGACCAGCCCCACCTTACGGACCAGGCCCAGACTGAATCCTGCCCAGGTCTTGCCCAAGCCCCATTATTCTGTACAGGCTCCACCCCACTCCCCTAGTCCCCATTTCAATGTTTAGAAGCAGCCTCACCCAGATCCTACCCTGTCTTGCTCAGCACAGATCCTCCCTGGTCACGCCGACCTCAACCAACCAAGGCCCCATCCACTGTTCCCAGGTGTCAATCACACCATGCAAGCCCCGCCCCCAGTGTGCAGGTCCCGCCTCTGCTGCCCAGGTCCCGCCCCCGCCCCCAGGCCTGCTTACGTGGTGCAGCAGCAGCAGCATCTCTGCCTCTGCCAGGCGCCGCCCGAGGCACTGGCGCATGCCAAAGCCAAAGGGCACGTGGTGGAAGTTCCTGCCGGAGCCCCTGATGTCTAGCCAGCGCTGGGGATTATACCGCTCAGGCCTCGGGAACAAGGCGGCATTGCGACCCAGCGAGTAGAGGAAAACCTGTACCAATGTCTGCGGACGGTGCAGAGCAGGGATCAGGGAATGACTGGGGAGGGAGGTTCTCAGCTCGAGGGGTGTGGGGCTCACTCACCCCAGCTGGGATGTGGTAGTTCTGAAGCACCAAGTCTGAGCTCACCACTCGCTCCAAAAACAGACCCACAGGGTAGAGCCTGGAGGTGGGGGCATCCATAGAAAGGGTCCTCAGCTGGATGGGGCTTCCTGTGCTCTCTGCACCCTTCCTACCGAAGACCCCGCAGAGGTCCCAGATCCATGGGAAGCCCAGGTCGTAGGAAGTACTTCCTTGCACCTGCTGAGCCCAGCCAAACCTCCCCTAACTTGAGAAGCCCCAAGCGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAN | pathogenic | 139,800 |
A genetic alteration at chromosome 8, position 142915094, in gene CYP11B2—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['CYP11B2-related_disorder', 'Corticosterone_methyloxidase_type_2_deficiency'] | CCTAACTTGAGAAGCCCCAAGCGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCGACCCAAGTCTGGCACCACCTCACCCATGCGGGCCCTCCCTGTAGTAACAGGGTAGGGCTTTTCTCCAAGAAAGGAGGTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCT | CCTAACTTGAGAAGCCCCAAGCGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCGACCCAAGTCTGGCACCACCTCACCCATGCGGGCCCTCCCTGTAGTAACAGGGTAGGGCTTTTCTCCAAGAAAGGAGGTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGG | pathogenic | 139,833 |
Clinically, how would you classify the variant at chromosome 8, position 142915115, gene CYP11B2: benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Corticosterone_18-monooxygenase_deficiency', 'Corticosterone_methyloxidase_type_2_deficiency'] | CGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCGACCCAAGTCTGGCACCACCTCACCCATGCGGGCCCTCCCTGTAGTAACAGGGTAGGGCTTTTCTCCAAGAAAGGAGGTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTC | CGCAGAAGGACATGCCCCACGTTAATCCCCAGGGTGTTGAAGAGGGATTCCAGAGGAAGAAGAGCTCCCTGTCCTTGAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCGACCCAAGTCTGGCACCACCTCACCCATGCGGGCCCTCCCTGTAGTAACAGGGTAGGGCTTTTCTCCAAGAAAGGAGGTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTCNNN | pathogenic | 139,835 |
A mutation at chromosome position 142915191 on chromosome 8 in gene CYP11B2: benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Corticosterone_18-monooxygenase_deficiency', 'Corticosterone_methyloxidase_type_2_deficiency'] | GAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCGACCCAAGTCTGGCACCACCTCACCCATGCGGGCCCTCCCTGTAGTAACAGGGTAGGGCTTTTCTCCAAGAAAGGAGGTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTCCACATCCTCCGGCAGCATCACACACACCATGCGTGGTCCTCCCAAGTTGTACCTGTGGGGCCAAGCAGGAGGCCCT | GAGGGGGAGGAAGAGCAGGTGCAGGGGAATGGGCTGCTGGGTGACGCTGTTTATCAGCCCCAGATTCTGTCTGCCACCACCCAGTGGGGGCTGCTCTCCAGCAGGGGGCCAGGGCCACAGGGAGGCCTCAGCCAGCACCCACCGCAAGGTCTCCTTGAGGGCCGCCCGCAGCAAGGGCAGCTCGGTGGTTGCCTTCTGGGGATGTTCACTGATGCTGGCTGCGGCGGCCAGGCTCTCCTGGCGCAGGATCTGCTGCACGTCGGGGTTCCGAGCCAGCTCAAAGAGCGTCATCAGCAAGGGAAACGCTGTCTACAGAAGCCATGTCTGCAGGGTCAGACCTTGCACAGGAGGACTCAGCCCCCGGGACACCCCTCCCAGGACAACCTCCCTCTGAGGGGTGGAGACATCCATGCCCTGAGCAAAAACAGAGCCCTGGGACCCCGGATCTGAAACCTTGATGACCACTTGGGCCAGATTCCCTGACTTCTTCAGGGAAAGGTGACCCCCATCTCCACCAAGGCCCAGGTCCCCTGCAGCCTCTTCAGGGCGGGTTCTCACAGCCACCATTAGGGCAGGGGGCCACACCTCAGCATCATCCAGGGAGTTCTGGAGCCCCAGCTCCCTCTGCTTCCATTGAGTTCTCCCCACTGTGCACCCACAGGCCCCTCTGCACTGGCTGGAGCCTGTGCTGCTGTCTTCCCCACAACCCTGCCCTCCCATGCATCTACATTTCTGGCCCAAGGTGACCGGGCACACTGGGAAGGGTGCCCAGTGGAGTCCTCCAGCTGCCTCTCAACCCTCCTTCTCCTTGTACACCCAGAGCTTTCCAGTGGGGACAGAGCTGCTGTGTGTCCAGGGCCTCATCCAACTTTCTTCCAGCCTGGAGCATGGATCCCCACACAGGTAACTGCAAACTCAGTCTCATGTGAGGGGGAGCTCACATTTCCCCTCCCCTGCAAATCTCATCCCTTAACAAAGGAGGGGGAAGGCTGAGGGCAACAGAAATGTGGGGCCTGTAGCCTGGGGATGGGGAACGTGGGTGCCGTGTGGCATTGGCAGGCAGTGCCTGGGAGGCAGGCTTGGCATCACCCTCTCTGGGTGGGGCTGGTTGCTGGCCTGACCGTGTCCACGCTCCCTGCAGTGAGTTCCATAGAGTTGGCCTTGATGGCTTCTAGTGACAGTTCCGCCTTCAACAGGAGCTCCGCCACGATGCCTGTGTAGTGTTGAGGGCGGTTGAAGGCCAGTTCCTGGTAGATTTTCTGGATACAGTTGTCACCTGTCCAGGGAGCAGGGGACAGCCCTCAGATCTTGGTGCTGGGAAGCATCCTTCAGTGTCCTCCTCCTGCCCAGACTGCCCCGACACCCAAATCTCCCTGCTCTCATCCCAAATTCTCCGGATCAGCCCAGCCCAGCCCCAGCCTCGCACCAATCTCCCCGGCAGGAAGGTGAGGAATCCCCGACCCCTCCCTGTGGCCTCCATTCCCCACTGGGTGGTGGAGAAGGAGAAATTGGGCCCCCATGGTGTCCCTTCCCCATAGCACTGCCCGGGTCCCTGGCCTCACCGTACTGGAAGATGCAGTCCCAGGCCTCAAAGTGCTCCTTCCACACCTTGGGGCTGATCCAGCGAGACAGGCTCCTGGGCATGAACATGAGCTGGACGGTGGATTTGAACATGACCTCCAGGGCATGGAGGAAGTTCAGGCTGGCAGAACTGGGGCTGTGGCCAACCAGGCCCAGCCGCTCTCCAAAAAGAGCTAAGTTGCTGGCTGCGGGGAGGATGCACTGCTGAGCACAAGGCAGCCCCAGGCCTCCTGGCTGCCTCCCCACACTCCCTTCAGTCCTCCATCCCCATCCCTGGCCACTCCAGGGTCTCTGGGGCTGGACCTTCCCGCATGGCCCACACCTTCTATGGTGTAGTGGAAGATGCTGGGCTGGACGTCCAGGGTCAGGCTCCCCCGGGCGTTCTGCAGCACCTTCTTCTTCAGGGCCTGGGAGAAGTCCCTGGCCACTGCATCCACCATCGGGAGGAACCTCTGCACGGCCTTGGGCGACAGACAGCACATCTGGGTTCAGCCGCAATCGGTTGAAGCGCCATTCAGGCCCATTCCTACAGAGGCCAGGGCAGAGCTTGTGAGGCCGCCCCAGCAAGACACAGGCCCTGACCCGTATCCCATCCTCCTTGTCCCCAAGGGGAATCGGCCTGCAGGGAGCTGACTGGGGGCCCTGGTAGAAGCTGCCTGTTTGTGTTCGAGCTGCAGCCTTTTCTCAGAGCGGCCTCCAGGTGCTGGGCAAAGGCCACTCAGGTCTAAGCAGGGATGAGATGGTAGCTTCTGCCCACAGGTGCTGACAGGGTAACTGAGGTCATTCCCGGGACCTGGCGACCCAAGTCTGGCACCACCTCACCCATGCGGGCCCTCCCTGTAGTAACAGGGTAGGGCTTTTCTCCAAGAAAGGAGGTGACCCCTGTTGTCAAGCTTTGCCCACCTCACCCACACAGTGTCCTGAGGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTCCACATCCTCCGGCAGCATCACACACACCATGCGTGGTCCTCCCAAGTTGTACCTGTGGGGCCAAGCAGGAGG | pathogenic | 139,839 |
Variant at chromosome 8, position 142917692, gene CYP11B2: clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Corticosterone_18-monooxygenase_deficiency', 'Corticosterone_methyloxidase_type_2_deficiency'] | GGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTCCACATCCTCCGGCAGCATCACACACACCATGCGTGGTCCTCCCAAGTTGTACCTGTGGGGCCAAGCAGGAGGCCCTGCTGGACGGGGTCATGTCCCTCGTGGCCCCACCCTGCAGTCCCAATCCAAAGTGTCTCCTGTCCACCCTCCCTGCTCCTGGATTAGCGGCTTCACAGCTAAAGCCCTCCTGCTGGCTCCCTGGAACCTTTCAACTTTAGTGCTTCTGAGTCCTGCCCTCTCTGCAGTGAGCTGGGGTTTTCTCTGCACTATCCCCTGCCCTGGCAGCACCACAGACCAGCATGTGCTGCACTCCTTCCCCATCCTCCAAAGGATGCAGAGTGCCGGGACCTGCTGGGAATGGCAGTGCTGAGTGCCTGGCAGGGTCCTGGGCAGCAGGGGCAGGGATCTGGGTGTTCCCAGCGAGGGCCAGGGAGGGCTTTACCTGAAAATGGGCCCCAGCTCCTGGAAGGTCTGGTGCATCTCCAGGTGCAGGTGCTCATAACCCTGCTCCCTCCAGATCTGCAGCAGCCTCAGCCACCTGTTGCCTGGATGCTGGGGCATGGCTTCAAACGGCAGCACCGTCCTAGGGGCCCGAGCGGCTCTAGTGCCCAGTGCCCGTGCCCTTTGCAGGGACAGCCAGGGCGCTGCCACGCACACCTCTGCCTTTGCCCTGAGTGCCATTCCAATGCTCCCTCCACCCTGTTCAGCCCAAATCCTTTTATCTCACCCAGGAACCTGCTCTGGAAACATATCACGTCATGGGAGAACTGGCTCTGGACCTGCCTGAGACTCTCAGAGCGAAGGTCAAGGCTGGAGGCCCCCAGCCAAAGGTAGATGAAGGAGAAGTCAGGTGCCTAATTCCCCATTGCTGCAAGTCCTGCTGGTCTGAGGATGCTGAGAAAAGGCGTGGGGTCTGGACTGGGGGTCCATGCTGGTGGAAGGTGGTGGGACCTGGCCTCTCCTTTCTCCAGGGCTGAGAGGAGTAAAATGGATGGGGACTTTATCTTATCGTGAGATGAGAGGGAGCCTTGGATTCTTTTAATAGACTTTATTTTTATACCACAGATTTAGTTCATTGCAAAATTGATCAAAAACTGCAGAAAATGTCCACGTACCCCCTGCCCTGACACAGGTACACCCTCCACCACAGGAGCGCACTGGTTCCATGTGAGGAATCTCGATACGTTGTTATCAACCAGGGTCCTGGAGTCACATGGGGTCTCCTCCTGGTGGTCAACATGCTGTGGGTTTTGACAAATGTATGTAATTTGTATCCCTCCTTGCAGGATCCTAGGAGTATTTTCACTGTCTTAAAAAGAGGAAAAGAAAACCTGTGCTCTGCCTGCTCATCCCTCCTGCCCCAGTCCCTGACATCTCCGATCTTTTTATCATCACCATGCTTTGGCCTTTTCCAAAATGTTGTATAGTTGGAATGACACCGTTTGTAGCCTTTTCAAAGTGACGTATCTCAGTTAGTAATATGCGTTTAAGGTTCCTCCATTTCTTTTCGTGGCTTGATAGCTAATTTCCTTTTTTTTTTTTTTTTCTAGAGGCTGGGTCTCACTTCTTTAGTGGTTGCCCTAGAGTTTGCAATATACGCTTAAAACTCATCTCTCCAACTCCACCTTCATATAACACTATACAGCTTCAGAGGTAATGCAAGCACTTTATAATCATCAGATATTCTTAGGCTGGGCATAGTGGCTCATGTCTGTCATCCCAGCACTTTGGGAGGCTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCTCGGCTTCTCAGCAGGCTGAGTCAAGATGAATGCTTGAATCAAGGAGGCGGAGGTTGCAGTGAGTTGAGATCATCCCACTGCACTCCAACCTGGGCAGCAAAGCAAGACTCCATCTCAAAATAAATAAATAATAAGATATTTTTAATTCCACTCACCCATCCCTTGCATCATTGCTGTCCTTCATTTCACATATACATAACTATGATCATCAAATACACTTTCTGGCTTTTATTTATTTATTTTTATTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCTGTCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGTGAGTCACCGCGCCCGGCCTATTTTTATTGTTGTTGTTTTGTTTTAGCAAACTCTTAGATCAATTAAGATTAAGAAAAAATAAAAGACTTCATTTTCTCTTTACTGATTCCTTCTGAAATGCTCTTCCTTTCTTTATGTAGCTCAGGGTTGCTGACCTGTATCATTTTCTTTCTCTCTGC | GGGGAGAGCCCCTGGCTGCCCTCTCCTCCCCACCCTTCCCCGCCCTGGGCACAGTGCCTCTGGGGCAGCAGCCTCTGCCTGTCTCTGTGAAGCATCTATATCTTCTGCAGGACAGAAACCAAGCTTTGTGCTTCATGCCATCCTCACCCACAGCCAGAGTGCGTGGGGGCTCCATGGATGCCCCCAGGGAATGGTGGGGAGGAATTTCCCCTGTCAGCCACATTCCTGCAAAACTCCTTTATTTATGTCCAGCTGGCTGCTGTGAGCTGTTGACAGTGATGACAGGCAGAAGATGCACATGCACACGTGCGCCCATGCAAGACCTCAACACCATGTGTGAAGAGACGCATGTGCATGTGTGCACAAACACTACACCCATGCCGGCACCTGCACATGCACACACACAGACACTTGTGCACACACACCACACATACATTCACACACAGACACGTGCACACACTACACATGTGCAAATGCAGGTACAGAGAAACACACAGCATGTGCACAGATGCAAGACACACACACATACAGGAGCGCTCCCCTTCCTTCCATTATGCGCACCCAGCCTCCTGGACCTGCCTTCCTGGGTCCTGACTCTCTCCCAGATGTCATCTATAGGCCAGCCTCAGTGAAGGCCCCGACCCACGGGTGCCCTTTTACCTAAACCCCACTATTCCCAATAGCGTTCCCTTCCTACCATGGAGTGGGGGCTGTCACCACTGTGACATCCTCATCCAGTCCTTCCCCCGTCCTAATGACAACATCCCTGCAGGTGACCGACTCCAAGCATCAGCCTCTCCCTGCCCACCTGACCAGGCGCCACCCTCTCCACGGGCCAGGAAACATCCTCCCCAGTGCCATCAACCGCCCCACCTTGTGCCTTGCTTCTGAGAACAACGGAACCACCAGCCACCTGCGTCCCCACCTGCCTCCTGCCCCGGACTGTCCCCATCAGGAAGGTTTGCCAGGACTGCAGGGACCCTGAGCGCCCTGAGGGAGGCTGTGGCCCCGGCGAACACCAGGCTCAGCACTCAGCCTGTGACCTGGGCCAGTGGAAGTCCCCTTCTCAGGGCCTCAGTTTTCTGACCTATGGGAAGGACAGTCCCCAGACCGCAAGAGAAAGCAGCCGCCGAGGTTGGTGCAGAGCGGGTTCTCACTACACAGAAGGGCTCATTGCTCTGCGTCTTCTCTGCAGAGGTGCCCGTGCCCATTTCTCCACCACCGCCCTGCTTCCCCAACCCACAGTGCAGACGCGACCCCACAGGATGGCCGTCCTCTGGGCCGGGTGCTCACCCTCACTGCCCACCACAGGGGCCCAGGGCAGATGTGCTTTTGGGTCCTACCTCTCTCGCCTCCCCCCTACACCCAGGCTGCCCACCCTGCTCCCAGCTCTCAGCTCCCAACTCGCCGCTTACAACAAGAACACGCCACATTTGTGCCCACGATGTTGTCTGTAGGCCACCCAGGGCTCCAGGATCATCCTGCAGGGATGCAGGCTGTCCACCTGTTGCAGCTTCTCCACATCCTCCGGCAGCATCACACACACCATGCGTGGTCCTCCCAAGTTGTACCTGTGGGGCCAAGCAGGAGGCCCTGCTGGACGGGGTCATGTCCCTCGTGGCCCCACCCTGCAGTCCCAATCCAAAGTGTCTCCTGTCCACCCTCCCTGCTCCTGGATTAGCGGCTTCACAGCTAAAGCCCTCCTGCTGGCTCCCTGGAACCTTTCAACTTTAGTGCTTCTGAGTCCTGCCCTCTCTGCAGTGAGCTGGGGTTTTCTCTGCACTATCCCCTGCCCTGGCAGCACCACAGACCAGCATGTGCTGCACTCCTTCCCCATCCTCCAAAGGATGCAGAGTGCCGGGACCTGCTGGGAATGGCAGTGCTGAGTGCCTGGCAGGGTCCTGGGCAGCAGGGGCAGGGATCTGGGTGTTCCCAGCGAGGGCCAGGGAGGGCTTTACCTGAAAATGGGCCCCAGCTCCTGGAAGGTCTGGTGCATCTCCAGGTGCAGGTGCTCATAACCCTGCTCCCTCCAGATCTGCAGCAGCCTCAGCCTGGATGCTGGGGCATGGCTTCAAACGGCAGCACCGTCCTAGGGGCCCGAGCGGCTCTAGTGCCCAGTGCCCGTGCCCTTTGCAGGGACAGCCAGGGCGCTGCCACGCACACCTCTGCCTTTGCCCTGAGTGCCATTCCAATGCTCCCTCCACCCTGTTCAGCCCAAATCCTTTTATCTCACCCAGGAACCTGCTCTGGAAACATATCACGTCATGGGAGAACTGGCTCTGGACCTGCCTGAGACTCTCAGAGCGAAGGTCAAGGCTGGAGGCCCCCAGCCAAAGGTAGATGAAGGAGAAGTCAGGTGCCTAATTCCCCATTGCTGCAAGTCCTGCTGGTCTGAGGATGCTGAGAAAAGGCGTGGGGTCTGGACTGGGGGTCCATGCTGGTGGAAGGTGGTGGGACCTGGCCTCTCCTTTCTCCAGGGCTGAGAGGAGTAAAATGGATGGGGACTTTATCTTATCGTGAGATGAGAGGGAGCCTTGGATTCTTTTAATAGACTTTATTTTTATACCACAGATTTAGTTCATTGCAAAATTGATCAAAAACTGCAGAAAATGTCCACGTACCCCCTGCCCTGACACAGGTACACCCTCCACCACAGGAGCGCACTGGTTCCATGTGAGGAATCTCGATACGTTGTTATCAACCAGGGTCCTGGAGTCACATGGGGTCTCCTCCTGGTGGTCAACATGCTGTGGGTTTTGACAAATGTATGTAATTTGTATCCCTCCTTGCAGGATCCTAGGAGTATTTTCACTGTCTTAAAAAGAGGAAAAGAAAACCTGTGCTCTGCCTGCTCATCCCTCCTGCCCCAGTCCCTGACATCTCCGATCTTTTTATCATCACCATGCTTTGGCCTTTTCCAAAATGTTGTATAGTTGGAATGACACCGTTTGTAGCCTTTTCAAAGTGACGTATCTCAGTTAGTAATATGCGTTTAAGGTTCCTCCATTTCTTTTCGTGGCTTGATAGCTAATTTCCTTTTTTTTTTTTTTTTCTAGAGGCTGGGTCTCACTTCTTTAGTGGTTGCCCTAGAGTTTGCAATATACGCTTAAAACTCATCTCTCCAACTCCACCTTCATATAACACTATACAGCTTCAGAGGTAATGCAAGCACTTTATAATCATCAGATATTCTTAGGCTGGGCATAGTGGCTCATGTCTGTCATCCCAGCACTTTGGGAGGCTGATGCAGGTGGATCACCTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCAAAACCCTGTCTCTACTAAAAATACAAAATTAGCCAGGTGTGGTGGCGCATGCCTGTAATCTCGGCTTCTCAGCAGGCTGAGTCAAGATGAATGCTTGAATCAAGGAGGCGGAGGTTGCAGTGAGTTGAGATCATCCCACTGCACTCCAACCTGGGCAGCAAAGCAAGACTCCATCTCAAAATAAATAAATAATAAGATATTTTTAATTCCACTCACCCATCCCTTGCATCATTGCTGTCCTTCATTTCACATATACATAACTATGATCATCAAATACACTTTCTGGCTTTTATTTATTTATTTTTATTATTTATTTATTTATTTATTTATTTATTTTTGAGACAGAGTCTCACTCTGTCGCCCAGGCTAGAGTGCAATGGTGTGATCTCGGCTCACTGCGACCTCTGTCTCCCGGGTTCAAGCAATTCTCCCGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGTGCCACCACCACGCCCAGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCGTGTTGGCCAGGCTAGTCTCGAACTCCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGGTGAGTCACCGCGCCCGGCCTATTTTTATTGTTGTTGTTTTGTTTTAGCAAACTCTTAGATCAATTAAGATTAAGAAAAAATAAAAGACTTCATTTTCTCTTTACTGATTCCTTCTGAAATGCTCTTCCTTTCTTTATGTAGCTCAGGGTTGCTGACCTGTATCATTTTCTTTCTCTCTGCNNNNNNNNNN | pathogenic | 139,850 |
Clinical classification of chromosome 8, position 143817122, gene PUF60 (poly(U) binding splicing factor 60): benign or pathogenic? Disease(s) if pathogenic? | benign | TGGCTGGGGTGGGGACCTGGCCAGTGCAAACCAGCAGGGCCGGCTGGAGGCTGCGGTGACTCGCCCGGGCAGATTCTGCCGCCGGAGGAATCACGGGCTGGGGGCGCGCCTTTGGGCGGCAGGTGCGGGCGGCCGCTCACCTTGGGCAGCTCGCGCAGCTGGTTGGCGTCGAGCAGCAGCTCCTCCAGGCTGCGGCTGTAGCGGTAGATCTCCTCCGGCACGGCCTGCAGCGAACAGTGCCGCTTGTCCACCGACTCCACGTGCCGGTTGCAGCGCCACAGCGGGATGCACTTGAGCATGGTGCGGGTGGGCGGCGCGGGCTCCGGCGGCGGCGCTCGGCGGGCTCGGGGCCGGGGGGCGGGGCTCAGTCCGCATGGGCGCCGCGCATGGGGAGGGGGCGCAGGCAGGGGGCGGGCCGCCCGAGACTGGACGGGGACGCGGCCGCGGCCGGCGCTGGGCCCGGCCCGCGCTCGGAACGCTCGGACTGCGGGCCTGGGCAGGGGGCGCGGCCCGGCGGGTCTCAGACTCTTAGGAAGCGCGGGGAGCGGCGGCGGCGGCGGCTCCGCATCCCGCTTGGTCCTGCTCAGCTCGTCCCGCCCGCTCGTCCGCCCGCTGTGCCGCACCGGAACCGCCGCTGCCCGCCGGACTGCCCCGCCGACACCCACCCGGCCGCCGCGCAGCCCGTCGGGAAGCCGAGTCCGGCCCTCGCCGCCTAGCACGCCCGGACTGCGGCCCCCAGAAGGCCCCGCGCGCCGCCGCCTCTGAGGACCCGTAGCGGCACCGCGCAAAGCGTGCCGGGAAGCCGGGCCCGCCCCGCGCGCGGGATATTGGGAGCTACAATCCACGAGAGGCGGCGCCCTCCGCCCTCCGGTCTTCAGCCCGGCCCCTGGCCCCGCGGCATTTGGCCACGAATCTTAACGCACAGCCTCCTCCCGGGAAGCGACCATGCCCGCCCGCCCGCCTTGGACGGCCGGCTCTGCGGCACAAAAGCACTGGCAGCGCGCGCTGTCCAGCGGGTCGCGGTGTCCCGGTGCCCAGCCTTCTCTCAGCACCACCCTGCGGGGACGGCTGCGAGCCCGCGCGCGAGAGCCTGGCGCCCCAGGCAGCCCCGCCCACCCAGCCGCCGCCACCCGCGGGACGGGGCCCGGGGCGCCAACCCCCTGCCCAGGTCTCGCCCACGGCAGGCCCCTCCTGCCAACAGGAAGCAGGTCCAGAGACCCCCCCAACCCTGCCTCCTCGCCCTAGACCCCCTAAGGACACACGCCCAGGATCGGTGACAGGACCGACGGCAGACACACGGACGTTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCC | TGGCTGGGGTGGGGACCTGGCCAGTGCAAACCAGCAGGGCCGGCTGGAGGCTGCGGTGACTCGCCCGGGCAGATTCTGCCGCCGGAGGAATCACGGGCTGGGGGCGCGCCTTTGGGCGGCAGGTGCGGGCGGCCGCTCACCTTGGGCAGCTCGCGCAGCTGGTTGGCGTCGAGCAGCAGCTCCTCCAGGCTGCGGCTGTAGCGGTAGATCTCCTCCGGCACGGCCTGCAGCGAACAGTGCCGCTTGTCCACCGACTCCACGTGCCGGTTGCAGCGCCACAGCGGGATGCACTTGAGCATGGTGCGGGTGGGCGGCGCGGGCTCCGGCGGCGGCGCTCGGCGGGCTCGGGGCCGGGGGGCGGGGCTCAGTCCGCATGGGCGCCGCGCATGGGGAGGGGGCGCAGGCAGGGGGCGGGCCGCCCGAGACTGGACGGGGACGCGGCCGCGGCCGGCGCTGGGCCCGGCCCGCGCTCGGAACGCTCGGACTGCGGGCCTGGGCAGGGGGCGCGGCCCGGCGGGTCTCAGACTCTTAGGAAGCGCGGGGAGCGGCGGCGGCGGCGGCTCCGCATCCCGCTTGGTCCTGCTCAGCTCGTCCCGCCCGCTCGTCCGCCCGCTGTGCCGCACCGGAACCGCCGCTGCCCGCCGGACTGCCCCGCCGACACCCACCCGGCCGCCGCGCAGCCCGTCGGGAAGCCGAGTCCGGCCCTCGCCGCCTAGCACGCCCGGACTGCGGCCCCCAGAAGGCCCCGCGCGCCGCCGCCTCTGAGGACCCGTAGCGGCACCGCGCAAAGCGTGCCGGGAAGCCGGGCCCGCCCCGCGCGCGGGATATTGGGAGCTACAATCCACGAGAGGCGGCGCCCTCCGCCCTCCGGTCTTCAGCCCGGCCCCTGGCCCCGCGGCATTTGGCCACGAATCTTAACGCACAGCCTCCTCCCGGGAAGCGACCATGCCCGCCCGCCCGCCTTGGACGGCCGGCTCTGCGGCACAAAAGCACTGGCAGCGCGCGCTGTCCAGCGGGTCGCGGTGTCCCGGTGCCCAGCCTTCTCTCAGCACCACCCTGCGGGGACGGCTGCGAGCCCGCGCGCGAGAGCCTGGCGCCCCAGGCAGCCCCGCCCACCCAGCCGCCGCCACCCGCGGGACGGGGCCCGGGGCGCCAACCCCCTGCCCAGGTCTCGCCCACGGCAGGCCCCTCCTGCCAACAGGAAGCAGGTCCAGAGACCCCCCCAACCCTGCCTCCTCGCCCTAGACCCCCTAAGGACACACGCCCAGGATCGGTGACAGGACCGACGGCAGACACACGGACGTTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCNNN | benign | 139,976 |
Gene PUF60 (poly(U) binding splicing factor 60) variant at chromosome position 143818041 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['8q24.3_microdeletion_syndrome'] | GCACAGCCTCCTCCCGGGAAGCGACCATGCCCGCCCGCCCGCCTTGGACGGCCGGCTCTGCGGCACAAAAGCACTGGCAGCGCGCGCTGTCCAGCGGGTCGCGGTGTCCCGGTGCCCAGCCTTCTCTCAGCACCACCCTGCGGGGACGGCTGCGAGCCCGCGCGCGAGAGCCTGGCGCCCCAGGCAGCCCCGCCCACCCAGCCGCCGCCACCCGCGGGACGGGGCCCGGGGCGCCAACCCCCTGCCCAGGTCTCGCCCACGGCAGGCCCCTCCTGCCAACAGGAAGCAGGTCCAGAGACCCCCCCAACCCTGCCTCCTCGCCCTAGACCCCCTAAGGACACACGCCCAGGATCGGTGACAGGACCGACGGCAGACACACGGACGTTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCC | GCACAGCCTCCTCCCGGGAAGCGACCATGCCCGCCCGCCCGCCTTGGACGGCCGGCTCTGCGGCACAAAAGCACTGGCAGCGCGCGCTGTCCAGCGGGTCGCGGTGTCCCGGTGCCCAGCCTTCTCTCAGCACCACCCTGCGGGGACGGCTGCGAGCCCGCGCGCGAGAGCCTGGCGCCCCAGGCAGCCCCGCCCACCCAGCCGCCGCCACCCGCGGGACGGGGCCCGGGGCGCCAACCCCCTGCCCAGGTCTCGCCCACGGCAGGCCCCTCCTGCCAACAGGAAGCAGGTCCAGAGACCCCCCCAACCCTGCCTCCTCGCCCTAGACCCCCTAAGGACACACGCCCAGGATCGGTGACAGGACCGACGGCAGACACACGGACGTTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCNNNNNNNNNNNNNNNNNNN | pathogenic | 139,980 |
Is the genetic mutation found on chromosome 8 at position 143818048, within the gene PUF60 (poly(U) binding splicing factor 60), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['8q24.3_microdeletion_syndrome'] | CTCCTCCCGGGAAGCGACCATGCCCGCCCGCCCGCCTTGGACGGCCGGCTCTGCGGCACAAAAGCACTGGCAGCGCGCGCTGTCCAGCGGGTCGCGGTGTCCCGGTGCCCAGCCTTCTCTCAGCACCACCCTGCGGGGACGGCTGCGAGCCCGCGCGCGAGAGCCTGGCGCCCCAGGCAGCCCCGCCCACCCAGCCGCCGCCACCCGCGGGACGGGGCCCGGGGCGCCAACCCCCTGCCCAGGTCTCGCCCACGGCAGGCCCCTCCTGCCAACAGGAAGCAGGTCCAGAGACCCCCCCAACCCTGCCTCCTCGCCCTAGACCCCCTAAGGACACACGCCCAGGATCGGTGACAGGACCGACGGCAGACACACGGACGTTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCACCACAG | CTCCTCCCGGGAAGCGACCATGCCCGCCCGCCCGCCTTGGACGGCCGGCTCTGCGGCACAAAAGCACTGGCAGCGCGCGCTGTCCAGCGGGTCGCGGTGTCCCGGTGCCCAGCCTTCTCTCAGCACCACCCTGCGGGGACGGCTGCGAGCCCGCGCGCGAGAGCCTGGCGCCCCAGGCAGCCCCGCCCACCCAGCCGCCGCCACCCGCGGGACGGGGCCCGGGGCGCCAACCCCCTGCCCAGGTCTCGCCCACGGCAGGCCCCTCCTGCCAACAGGAAGCAGGTCCAGAGACCCCCCCAACCCTGCCTCCTCGCCCTAGACCCCCTAAGGACACACGCCCAGGATCGGTGACAGGACCGACGGCAGACACACGGACGTTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCACCACAGNNNNNNNNNNNNNNNNNNN | pathogenic | 139,981 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 143818425, gene PUF60 (poly(U) binding splicing factor 60). What disease(s) is it linked to if pathogenic? | pathogenic; ['8q24.3_microdeletion_syndrome', 'Inborn_genetic_diseases'] | TTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCACCACAGCCAAGGCCATAGCCATGGCCCCTGCCTCCTCCGCCCTGGCTGCGTGGCCTCTGCCCCTTGCTGACAGCCAGGCACAAGGCCCTGCTTGCCCTTCCCTTGCTCGCTTGGGTCCCCCCACCCCCACCCCATCCAACCATCCTCCCTCCAGGGTCTGATGGGGCCATGAGTTAGGACCCCTCTCTCCTCAGGGGCCTGACCCCAACCCAAGAGCCAGGCAGCCTGGAGACTGACGGGGCTGGAGGCCGTGGGCACACCCCGTGCGTGCAGGTGGCGTGGGCGCAGACGGGCCTGGTGCTGGCAGCTACCCGCCCTGGCCGGCTGCCCTCCGCAGTTACCTGGCCGATTAGTTTTAAGGTGGGCCCTCAGAGCAGATGGAG | TTCAGGGCCAGCAGCATCCGCACCTTTATCCGCACTGTAGGCTGGGCTGGGCAGAGCGCGCCTGGCCCCGGGGACACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCACCACAGCCAAGGCCATAGCCATGGCCCCTGCCTCCTCCGCCCTGGCTGCGTGGCCTCTGCCCCTTGCTGACAGCCAGGCACAAGGCCCTGCTTGCCCTTCCCTTGCTCGCTTGGGTCCCCCCACCCCCACCCCATCCAACCATCCTCCCTCCAGGGTCTGATGGGGCCATGAGTTAGGACCCCTCTCTCCTCAGGGGCCTGACCCCAACCCAAGAGCCAGGCAGCCTGGAGACTGACGGGGCTGGAGGCCGTGGGCACACCCCGTGCGTGCAGGTGGCGTGGGCGCAGACGGGCCTGGTGCTGGCAGCTACCCGCCCTGGCCGGCTGCCCTCCGCAGTTACCTGGCCGATTAGTTTTAAGGTGGGCCCTCAGAGCAGATGGAGNNNNNNNNN | pathogenic | 139,984 |
Regarding the variant at chromosome 8 and position 143818499, affecting gene PUF60 (poly(U) binding splicing factor 60): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['8q24.3_microdeletion_syndrome'] | CACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACATGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCACCACAGCCAAGGCCATAGCCATGGCCCCTGCCTCCTCCGCCCTGGCTGCGTGGCCTCTGCCCCTTGCTGACAGCCAGGCACAAGGCCCTGCTTGCCCTTCCCTTGCTCGCTTGGGTCCCCCCACCCCCACCCCATCCAACCATCCTCCCTCCAGGGTCTGATGGGGCCATGAGTTAGGACCCCTCTCTCCTCAGGGGCCTGACCCCAACCCAAGAGCCAGGCAGCCTGGAGACTGACGGGGCTGGAGGCCGTGGGCACACCCCGTGCGTGCAGGTGGCGTGGGCGCAGACGGGCCTGGTGCTGGCAGCTACCCGCCCTGGCCGGCTGCCCTCCGCAGTTACCTGGCCGATTAGTTTTAAGGTGGGCCCTCAGAGCAGATGGAGGCCTCCCCAGGGGCGGTCCCGGGTGGGTGCCCACACCACTGGCCCCACCACGCCTGGCGCTCTGCTGCGCTCGT | CACCACTGTATCACTATAAAACCCAGAGGAAACAAGGAACAAGTGCAAGTCCGGGGAGAGGGACCACTGTCACGCAGAGAGGTCACTGTTATCAAAACGCTCCTGGTCGTACACTTCAGCCACCACCTTGCGGCCAGCAAACCAGCGGCCATTGAGGGCCTGGATGGCCTTATGAGTCTCAGAGGCTATGGAAAACTCCACAAAGATCTTGACAATGATTTCTGCATCCTCCTCCTCGCCTTGTTTCTCTTGGTAGATGATGACGCGGTTCACGGCCCCGAACTTGCCACACTCCTCTGTCACCTCCCCTTCCAGGTCATCATCGATGTCCTTGGGGTCCACCATGTTGCGCAGAACCATCACTGTAGACTGTGGGGCAGGGCCGAGGGGAAGACAGCTGAGCACTGCGGCCCCGCCCCCCTACCCTCTCCCCCGCCACCACCCTGCCCCTCTGCCTACCTCCTGCTTGCGGAGCAGCTTCTGCATCACCATGTGTCGGGCGCTACTGCCCGAGATGCTCATGTGCTCCTGCTCGCTCAGCATCTCTGGCCGCTCTGACTCGGGAAACAGCTCCTCTTCTTCCTTCTCCTTCTTGGGCTCCAGGAGACCCAGCGTTGGAGGGCTGGCCAGGATGGGGTTCACCACTCCCACCGAGGGGATGGTGACCGGGATAGGAGGACGGGCTGGGGTCACACCTGCAGGAAAACCAACCAGGTCCATCAGTCACTCCCTACCACCCCCCTTCCCAGAAAGGCACAGAGCTGGCCTGCCCTGGGCTCAGAGGGTTGTGCCCAGACCACCAGGGCCAGGCAGCTGAGGGCAGCGAGCCGAGAGATGCCAGGACAGGAGAGGAGAGGATCTGGTACCACTTAAGACTCACCTGTGATGACTCCAGGTGCCTGGGCAGCCATGACAGCCTGGGGCAAAGTGCCCAGGGGCTGGGCCAGGGTCAGTGCTGGGGACACCAGTCCAGGTGTGCCCAGGGTACCCAGCACCGCTGCTCCGGCCACTGCTTCCTGCAACCCAAAAGGTCACCGTGCTCAGTCCCTGGTCTGGCTACTCAAGACCACCTTGAATCAGTCTCCAAGGAATCAGGGGCCAGCCCGCCCACCCTCAAGCCGACAGCTGTGTGGGCCCTCACCTGAGCTGTGATCTTGGCAGTGGCTGCAGCAGCTGCCACAGCAGCGGCAGGTGGGAGGCCTCCAGGCGTGGCTGGTGTGAGTAGGGGCATGGGCGGTGTGACAGCCTTGCCCACCCGCAAGTACTGGCCACCCAGGTCAAAGAGGTTCATGGAAGACACAGCATCTTGGGACGACTGGGCCTTCTCGTACTCTGTGGGCAGGAGCAGCAGTGAGCAGGGCCAGCCCCAGCCTCAGGTGGCCCCCATCCCGCCTCAGCCACCCCAGCTCACCAATGAAGCCGTAGCCCTTGTGCTTGCCAGTTGTGGGGTCCCGGGCCAGTGTGCAGGACTTGATCTTGCCAAAGGCCTCAAACACGCTCTTGATGTCATCGTCTGAGAGGTCCTGGTGCACAGAGGCCACGTAGATGCGGTTGAAGGCCCGTGCCTCCTCAGCCAACTGGTCTATGATGGGCTGGGCCTGCCCTATGTTGCTGGGTCTGCCCACCTGGGGAAGAGGCGGTGAGATGGAAAGACCGGTCAACCCAGGCCCGGCCACAAAAGGCTTCCGTGGAGGGGCAGCCCTGCACGCCTGCGGGATCGAGGCCTTGGCTCCCTGCCTCACCTTGATGTTCCTGCCCCCCAGCATCACCGAGTTCATCTGCTCCAAGGCCAGCTGTGCAGCTTCGGGGACCTCATACTCCACGAAGGCAAAGCCCTAGACACAGGGACACACCTGTCAGGCTGCGCGAGCCCAGGGGTGGGGGCGAGCCCGAAGTGGCCGGGGCGGACCAAGCCTGCTGACCTTGTGCTTCATGGTGACGGAGTCCCAGGACATGTCGATGCTCTTGATGGGGCCAAAGGGGGCAAAGGCCTGGCGGATGGTGTCCTCCCCCAGCTCATAGTAGATAGAGCCCACGTAGACGCGGCACGATGGCCAGCGCCCGCTGCCGCTGAGCCGCCATCTGCAGCAGGACAGAGGGGAGAGAACCGCTGGCTCGTCAGGGGCGGCAGGAAGCTGGGCAGCCCACTCCCCTCCTGGCCCACCCACCCAGCCCTGCTGTGGGGAGGGCTCCCCACATGACAGGGAGGTGCGGGCTCCATCCCTGCAGTCATAGTGTGGGGGTCGCAGGACCCCGCCACCCAAAGAAGGAAGGCCAGGCCCAGCGGCAGGACAGGACGCACCCCAGCCCGCCAAGGTCCCAGGCAGACTGCGGCAGCAAAGCCGACAGATGGTCAGGAGGCAGGGCTGTGCGCCCTCCCACCCAGACCACCCCTCCAGTCTGGGGGCTGGGTATCCCAGGCTGGGCTGGGAGATCCTCCCACTGTCCCAGCCAAGGACCACGACAGAAGAGGGAAGGAGGAACCATCCAAGCTGGAGGGACCCACTGGTTTGGTGGCCAGAAGAGAGGAGGTCAGAAGACAGGGCAGCCACTGCCCAGAAGAGACCCCAGGGGAGGAGCTCAGGAGCCAGATGGGGGCTCCCTGAAGAGAGAACGAGGAGCAGCTGCTCATGCTGGGCCAACTCAGGTGGGGGCTCATGCTGTGCCTTCCCAGTGCCCTGCAACTCCTCACAAAGGAGCTGCCTGGAGCCTGTGCCCCCAGCCGAGAGAGCGGGCCCAGGCGAGACCACTGGCCTGGCCCCCGGGGGCACCATGAGGTAGCAGAGACCCTACGAGAAGCCCCCAGGCTCCTTAGAGCTGGTGACAGGCCTGGCCGGTCCAGGGCCTTGGCTGTGAGCTTGGCTATTGCGCTGAGGGACCTCCCCACACCCTCAGGGACGGGTTCTCGCCCCTGTCACCTCACAGGAGGCATGCCAGACAGGGGACTTCCAGAGCCACACGCAGTGGGCCACAGGGAGCCTGTGGGCCAGGGCAGGCAAAGCAGACAGCTGGAGCCAGGCCCTGCCCCTCTCCACAAAAGGCCTTGTGGCCAGAGACCAGTTTCCCTCTTTAGACATCAGCTGGCCTAATGCAGGCCGAACCTCCCCATCCCGTGGAGAGGGGCCTGGAAGCATCTCTCCACATCAAGGGACTTCCCAAGGTGAGATATCTTCCTTCAAACCAGGCATTCCCTGAAAACGAGACTGTGTTCTCCTCACACTGGGCCCCCTGACAGACCTCAGGCTCCCCACTCAGAGCAAGACCCCCCCAAAGGTGGAATCACATCCCCCTCACTCAGCAGGCTCCCCAGACACGAGACCAGGCCTGTCCCTCAGGTCATGGTTCCCCCAAGACAGGGCCATGTCTCCTTTTCAGTGTGGGGCCCCACCCCCAGGCAGGCCAAGAGCTCTCTCCCTGACCAGACCCCCAGCCCGGGCTCCCATTCAGATGCTTCCCAGAGAGAACAAGGCGTGTGTTGCCCCATGGGAGCCACACACAGGGATGACCCCTCTGAACAGAGGCTCCCAGAGAAGGGTCCACATCTTCCCCTCAGGATCCCCGAGATGGGACCTGGCCTCCTCCTGAGCCTGCCTCTGGGGGAAGGGAGGGACACCTCCTTCCCACACTCCTCTGCCCACCACAGCCAAGGCCATAGCCATGGCCCCTGCCTCCTCCGCCCTGGCTGCGTGGCCTCTGCCCCTTGCTGACAGCCAGGCACAAGGCCCTGCTTGCCCTTCCCTTGCTCGCTTGGGTCCCCCCACCCCCACCCCATCCAACCATCCTCCCTCCAGGGTCTGATGGGGCCATGAGTTAGGACCCCTCTCTCCTCAGGGGCCTGACCCCAACCCAAGAGCCAGGCAGCCTGGAGACTGACGGGGCTGGAGGCCGTGGGCACACCCCGTGCGTGCAGGTGGCGTGGGCGCAGACGGGCCTGGTGCTGGCAGCTACCCGCCCTGGCCGGCTGCCCTCCGCAGTTACCTGGCCGATTAGTTTTAAGGTGGGCCCTCAGAGCAGATGGAGGCCTCCCCAGGGGCGGTCCCGGGTGGGTGCCCACACCACTGGCCCCACCACGCCTGGCGCTCTGCTGCGCTCGTNN | pathogenic | 139,986 |
Regarding the variant at chromosome 8 and position 143824349, affecting gene PUF60 (poly(U) binding splicing factor 60): benign or pathogenic? If pathogenic, what are the associated illness(es)? | benign | GGGCCACGGCTCTCTGGACGTTCTGGGACTCCTTGCTCCCAGGCTCCTCCAGGCTTCCTCACAGTCCCTGCCACAGACACAGGCTCAGCTTCCCTGGAGTTTCAAGGGGCCCACCCAAGGAGCTAATACAAGGGCCTCTCTCCCAACAGTGCTCCCCCCACCGTCCCCGCAGGCACTGTGCACACCTCCCAGAGAACACAGGCCTCTCTCGGGCCACACAAGCCCTGAAGAGGGCTCCAGCTCACTTCCACACACTCTTGCATGGGCTTTGCCTGGCCCACTGGGAGAAGCCAGGAGCAGACCCCACTGGCACCCTAGCCAGGTGGGCCTGGGGACCAAGAGGCCCTTGGGCAGTCACAGCCACTGCAGACCCAAGCTGATGCCAACCAGGATTATGTTTACGTCCCTCCTGTCAAAATCCATCTCTAAGCTTTTTGCAGAGGGAAGAACGCAGCTGTGTGAGCAGGGAGGCATGGCTAGCAGGCCCATCAGAGTGTGGGATGGGCAAACAGCATGCCTGCGCCTGTCCTCCAGCTCAGCAAGCACAAAGATCACTGGCCCACCAACCGGGCCCTCCGAGACTTCCAGACACAGCCTTGAGGGACAGCAGAGAAGAGAGAAGGGTCCCCAGCACAGAAGTGATGAGCAAGGACAGAGGGACACAGGAGGCAGGAAGGGACAGGCTGGCCCAAGCCCCAAGAACCCCCTCCTGCCTGCCAAGTGCTGGGATGCTGGCCCAGGCTCAAAGGGCAGGAAGCCCTGGAGACCCCTCCCCAGGCAACCAGAGCCCCAACCAGTCCCTGAAGGTCAAAGGCTGGCTGTGGGTGGCACCAGGTGCCCCAGTCCGGCTCACACCAGGCCTGTCCTAATCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCTTCACCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCCTCACCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCCTCACCACCCTCACAGCTGGCCCCAAGCCCATTCCTCCTTAGTGGGAAAGAGGGCCCAAGAGCCAGAGGCTGGGACTTGAGAGCAGGCTGTCACCATGGTAATCAATGCCAACCCCCTCAGCCCCCAGACATTTTTCAATCTCCTCTTTGTCTTGGTAAACAAAAGGCCCTTCTCCCACCAACCAATGGCCGGCTGGGCGCCAGCCAAGGGCCAGGGAGCACCAGCCCCCACATCTCCCAGGATCCAAGCTGCATACCATGTCCCAGTCCCACCCCCTGAGTGTGCCTGGGGGACCAAGAGGAGGGCCCAGCCCCAAGAGGCTGCCAGGCCACCTTGCTGAGGCCCCACTGGAATGCTCTGGAGGCGGGCGCTACCATGGAGAAGCACAAAGAACCCAACTACCCAGCCACAGGCCCAGCTCCACCTCTGAGAGGACCTGCTCCCAAGGCTGGGCCATCGAACAGACCAAGACCCACCTGCACCCACTCTGGAGCCTGGGGCCGAAAAAAGATGGGGAGGGCTGAGTCCCAACCAGACCTGTGCTTTGACTTGCGCATTGCTTCACTGTTTTATTTAAATGAAAACACAGAGGTCTGAAATGAAATCTGTCCTTCTGGCTCCTCAAGCACTGCGAGTTCTGGGAAGCTTGGCCCACCCTTCCTGCAAGACGCTCATGCCTAAGAACGCGCGAGCTCCAGGCCCCGGCGTCCCCGCCCAGCCAGACTGTCAACAGGCCCCGCCTGGTGCTTGGAGCAGGGCAGATGCAGAGGGCAAAGGCCAGCTCAGTGCCTGGGTGGGGAGGGTGCAGGGCTGGTGCGGGGAGAGGGCCGTGGTCCTGCGGGCAGTTGTCTGCCCAGAGGCAGAGAAGGGTTCCCGAGGTTCCTCCCGCCCCGCCCCCAGCCAGCCCTCTCTGGGCCCAGGGACGCACAGGCAGGCGGGCGGGCGGGCGGGCAGGCGGGCGGGCCTGAGGGAGAGGATGCTTAAGGTCAGTACCTGTGGAGGTTTCCATTTGTCTCCCGCTGCCACCACTGCCGCCGCCGCCGCCGGCTCGGACCCCCCTCCTTGCTGGCCATTGACCTGCTGCAGGCAGGAAGGAGATGTTGTAACGACAGGCACACCACCCCACCGCCCAGGCCTGCTCTCCTCCCGAGCTAAGGGCTGAGCTCCTCACGGATAAGCAAGGGAGGCCAGGCAGGGAGGCATTCCCGACATGACCCCCCAGCCCAAACTGCCCTCTCTTCACACCCATCAGCACGCCCAGGGACCCAGTCAGAAGCAGAGCGGAGCATGGGCTGGGCCAGGGCTGCCAGCGAGTCCCAGCGGGGATGGGGAGGAGGGTAGAGAGAGCTGTGCTCCTGCCCCAGGCAAAAGAAAGCCATCCTCTCCTGCCGGCAGGCTGGACGGCCAAAGGAACCGGCTGGGTGTCCCCCATGCCCTCCTGAGGCAGCAGCGGTGCCTTCCTGGCAACCTGTACACACCTTGGCCAGCCCACAACTCAGCCCCAGCTCCAGTGCCTTCCACAGGCTCTGGCCCAGCCCAGGTCCCAGTTCTCTCCTGAAGACACTTTTAAGCAGCATGGTGGGCAGGGGTCTGGATGCGCAGGCCTCCCTTCCCTGGCAACAGAACCATCCAGAGCTGTCTCGCAGGAGGACGGCCAAGAGGTTAGCCCTCTGCACTCAGTAAGACCCACACCTAAGGGGGCACAGGAAGGAGGAGCAGCTCCACAATGGTCTTGAGGGATGGCAGGGCAAAGACAGGCCACGGGCAGGAAACGGGTAACGCTGTGGGGGTCGGGAGATGATGGAAGGGCCTTGAGACCTACTCTACCTTCTCAGAGGCTGCACAACGAGAAGCAAGGCAGCATGCAGTCACCCCACTCCCAGCTCAAGGATGAGACCCACAATATCTAAGAACAGAAGAGATCAGCGTGCCCACCCTTGGAGCCATGTGCGCAAAGCCAGAGGCTGGGCTGACCCACCAGAGTGTCCCAGGTCCTTCAGCCTCCAGAGGAGGAGCAGCACCACCAGCCCAGCTGCACTGGGGAAGGCCAACCCAGCCCGTGCCTGGAGCTGCTCCCAATGCTGTCGGCATGGGTGTGCTCTAGCTGCCCAACTCAGCCCCACGCTGCCTAAACACTGCACCCCGGAGAGAGTGAAAGGAAACAAGGGGCCCCTCCCACTGCATGCACAGCCAGAGCAGAGGCTGCCTCTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCCCAGGCTAGAGTGCGGTGGTGCAACTACGGCTTACTGCAACCTCCGCCTCCTGGGACTCCAGGCATGCGCCGCCACACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGGTCTCCGTGTTGCCCAAGCTGGTCTCAAACAATCCACCTATCTCAGCCTCCAAAGTGCTGGTACTACAGGCGTGGACCACTGTGCCCAGCCAAGGCTGCCTCTCATTGCCCACAGCAAGAGATCACTTCACGACCAGTCTCCAGATACCCGTGAACAGGGTGAACTGAGGGGCACTTTTGTAACTTCCTGCTCCCCCAAATCACTGCACTAACCAACAAGTAAGCCACAACAGTGTTGACAGTGGGATGTGGCTCGGAAAAACATTTTCTTGGGAAAAGCCGGCCCACTGGTGCATTCTACACAGGACACCCCATGCCATTCCTGGCAGATGGAAGTTCCCAGCTGCATGGAGCTTAGGGTTCTGTGCTAACCAGACGCTGGGAGAACTTGGAGGAAACCGGTGTTTACAATCGCAGCTAGTCACGTACTGCCATCTTTAGGCAATTAAAATGGCGTCTTTATGGTCAGGATGCCCCCAGCACCAGGCAGCAGTGCTTGGAGGGATGGGAAGCCCCTCTGAGGGGCGGCACAGCAGAGGGGCTCTGGGGTGCCAACTCTGGGACTGCCTTTCCTCAGCCCAGAGCAAAGAAGAGTATTTCCATCAGAAAACAAGAAAAGCAATGTAGGGGCTGGGCGTGGTGGCTCACACCTGTAACTCCAGCACTTTGGGAGACCGATGTAGCACTTAAGACCAGCCTGGACAACACAGCAAGACGCTGT | GGGCCACGGCTCTCTGGACGTTCTGGGACTCCTTGCTCCCAGGCTCCTCCAGGCTTCCTCACAGTCCCTGCCACAGACACAGGCTCAGCTTCCCTGGAGTTTCAAGGGGCCCACCCAAGGAGCTAATACAAGGGCCTCTCTCCCAACAGTGCTCCCCCCACCGTCCCCGCAGGCACTGTGCACACCTCCCAGAGAACACAGGCCTCTCTCGGGCCACACAAGCCCTGAAGAGGGCTCCAGCTCACTTCCACACACTCTTGCATGGGCTTTGCCTGGCCCACTGGGAGAAGCCAGGAGCAGACCCCACTGGCACCCTAGCCAGGTGGGCCTGGGGACCAAGAGGCCCTTGGGCAGTCACAGCCACTGCAGACCCAAGCTGATGCCAACCAGGATTATGTTTACGTCCCTCCTGTCAAAATCCATCTCTAAGCTTTTTGCAGAGGGAAGAACGCAGCTGTGTGAGCAGGGAGGCATGGCTAGCAGGCCCATCAGAGTGTGGGATGGGCAAACAGCATGCCTGCGCCTGTCCTCCAGCTCAGCAAGCACAAAGATCACTGGCCCACCAACCGGGCCCTCCGAGACTTCCAGACACAGCCTTGAGGGACAGCAGAGAAGAGAGAAGGGTCCCCAGCACAGAAGTGATGAGCAAGGACAGAGGGACACAGGAGGCAGGAAGGGACAGGCTGGCCCAAGCCCCAAGAACCCCCTCCTGCCTGCCAAGTGCTGGGATGCTGGCCCAGGCTCAAAGGGCAGGAAGCCCTGGAGACCCCTCCCCAGGCAACCAGAGCCCCAACCAGTCCCTGAAGGTCAAAGGCTGGCTGTGGGTGGCACCAGGTGCCCCAGTCCGGCTCACACCAGGCCTGTCCTAATCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCTTCACCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCCTCACCACCCTCAGCACCAGGTGCCCCAGTCCGGCTCACACTAGGCCTGTCCTCACCACCCTCACAGCTGGCCCCAAGCCCATTCCTCCTTAGTGGGAAAGAGGGCCCAAGAGCCAGAGGCTGGGACTTGAGAGCAGGCTGTCACCATGGTAATCAATGCCAACCCCCTCAGCCCCCAGACATTTTTCAATCTCCTCTTTGTCTTGGTAAACAAAAGGCCCTTCTCCCACCAACCAATGGCCGGCTGGGCGCCAGCCAAGGGCCAGGGAGCACCAGCCCCCACATCTCCCAGGATCCAAGCTGCATACCATGTCCCAGTCCCACCCCCTGAGTGTGCCTGGGGGACCAAGAGGAGGGCCCAGCCCCAAGAGGCTGCCAGGCCACCTTGCTGAGGCCCCACTGGAATGCTCTGGAGGCGGGCGCTACCATGGAGAAGCACAAAGAACCCAACTACCCAGCCACAGGCCCAGCTCCACCTCTGAGAGGACCTGCTCCCAAGGCTGGGCCATCGAACAGACCAAGACCCACCTGCACCCACTCTGGAGCCTGGGGCCGAAAAAAGATGGGGAGGGCTGAGTCCCAACCAGACCTGTGCTTTGACTTGCGCATTGCTTCACTGTTTTATTTAAATGAAAACACAGAGGTCTGAAATGAAATCTGTCCTTCTGGCTCCTCAAGCACTGCGAGTTCTGGGAAGCTTGGCCCACCCTTCCTGCAAGACGCTCATGCCTAAGAACGCGCGAGCTCCAGGCCCCGGCGTCCCCGCCCAGCCAGACTGTCAACAGGCCCCGCCTGGTGCTTGGAGCAGGGCAGATGCAGAGGGCAAAGGCCAGCTCAGTGCCTGGGTGGGGAGGGTGCAGGGCTGGTGCGGGGAGAGGGCCGTGGTCCTGCGGGCAGTTGTCTGCCCAGAGGCAGAGAAGGGTTCCCGAGGTTCCTCCCGCCCCGCCCCCAGCCAGCCCTCTCTGGGCCCAGGGACGCACAGGCAGGCGGGCGGGCGGGCGGGCAGGCGGGCGGGCCTGAGGGAGAGGATGCTTAAGGTCAGTACCTGTGGAGGTTTCCATTTGTCTCCCGCTGCCACCACTGCCGCCGCCGCCGCCGCCGGCTCGGACCCCCCTCCTTGCTGGCCATTGACCTGCTGCAGGCAGGAAGGAGATGTTGTAACGACAGGCACACCACCCCACCGCCCAGGCCTGCTCTCCTCCCGAGCTAAGGGCTGAGCTCCTCACGGATAAGCAAGGGAGGCCAGGCAGGGAGGCATTCCCGACATGACCCCCCAGCCCAAACTGCCCTCTCTTCACACCCATCAGCACGCCCAGGGACCCAGTCAGAAGCAGAGCGGAGCATGGGCTGGGCCAGGGCTGCCAGCGAGTCCCAGCGGGGATGGGGAGGAGGGTAGAGAGAGCTGTGCTCCTGCCCCAGGCAAAAGAAAGCCATCCTCTCCTGCCGGCAGGCTGGACGGCCAAAGGAACCGGCTGGGTGTCCCCCATGCCCTCCTGAGGCAGCAGCGGTGCCTTCCTGGCAACCTGTACACACCTTGGCCAGCCCACAACTCAGCCCCAGCTCCAGTGCCTTCCACAGGCTCTGGCCCAGCCCAGGTCCCAGTTCTCTCCTGAAGACACTTTTAAGCAGCATGGTGGGCAGGGGTCTGGATGCGCAGGCCTCCCTTCCCTGGCAACAGAACCATCCAGAGCTGTCTCGCAGGAGGACGGCCAAGAGGTTAGCCCTCTGCACTCAGTAAGACCCACACCTAAGGGGGCACAGGAAGGAGGAGCAGCTCCACAATGGTCTTGAGGGATGGCAGGGCAAAGACAGGCCACGGGCAGGAAACGGGTAACGCTGTGGGGGTCGGGAGATGATGGAAGGGCCTTGAGACCTACTCTACCTTCTCAGAGGCTGCACAACGAGAAGCAAGGCAGCATGCAGTCACCCCACTCCCAGCTCAAGGATGAGACCCACAATATCTAAGAACAGAAGAGATCAGCGTGCCCACCCTTGGAGCCATGTGCGCAAAGCCAGAGGCTGGGCTGACCCACCAGAGTGTCCCAGGTCCTTCAGCCTCCAGAGGAGGAGCAGCACCACCAGCCCAGCTGCACTGGGGAAGGCCAACCCAGCCCGTGCCTGGAGCTGCTCCCAATGCTGTCGGCATGGGTGTGCTCTAGCTGCCCAACTCAGCCCCACGCTGCCTAAACACTGCACCCCGGAGAGAGTGAAAGGAAACAAGGGGCCCCTCCCACTGCATGCACAGCCAGAGCAGAGGCTGCCTCTTTTTTTTTTTTGAGACAGGGTCTGGCTCTGTTGCCCAGGCTAGAGTGCGGTGGTGCAACTACGGCTTACTGCAACCTCCGCCTCCTGGGACTCCAGGCATGCGCCGCCACACCTGGCTAATTTTTGTATTTTTGGTAGAGATGGGGGTCTCCGTGTTGCCCAAGCTGGTCTCAAACAATCCACCTATCTCAGCCTCCAAAGTGCTGGTACTACAGGCGTGGACCACTGTGCCCAGCCAAGGCTGCCTCTCATTGCCCACAGCAAGAGATCACTTCACGACCAGTCTCCAGATACCCGTGAACAGGGTGAACTGAGGGGCACTTTTGTAACTTCCTGCTCCCCCAAATCACTGCACTAACCAACAAGTAAGCCACAACAGTGTTGACAGTGGGATGTGGCTCGGAAAAACATTTTCTTGGGAAAAGCCGGCCCACTGGTGCATTCTACACAGGACACCCCATGCCATTCCTGGCAGATGGAAGTTCCCAGCTGCATGGAGCTTAGGGTTCTGTGCTAACCAGACGCTGGGAGAACTTGGAGGAAACCGGTGTTTACAATCGCAGCTAGTCACGTACTGCCATCTTTAGGCAATTAAAATGGCGTCTTTATGGTCAGGATGCCCCCAGCACCAGGCAGCAGTGCTTGGAGGGATGGGAAGCCCCTCTGAGGGGCGGCACAGCAGAGGGGCTCTGGGGTGCCAACTCTGGGACTGCCTTTCCTCAGCCCAGAGCAAAGAAGAGTATTTCCATCAGAAAACAAGAAAAGCAATGTAGGGGCTGGGCGTGGTGGCTCACACCTGTAACTCCAGCACTTTGGGAGACCGATGTAGCACTTAAGACCAGCCTGGACAACACAGCAAGACGC | benign | 139,989 |
Clinical significance of chromosome 8, position 143920261, gene PLEC (plectin): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q', 'Epidermolysis_bullosa_simplex,_Ogna_type', 'Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy', 'Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia', 'Epidermolysis_bullosa_simplex_with_nail_dystrophy'] | TGCCGTCGTCACGACGGCACCGCCTGAGCAGCTGCGTGTAGCTGAGGCGCTCGTCGGTGGACGGGTCCACGTAGCTGCGCACCTCGCTGGGCTCTGACAGCTGGTCGTGCGTGTCCTTGTTGAGGTAGCCACGCTGGTAAGCCACCTCCAGGGGAAGGTGGAAGCCCAGGCGGGGGTCCACGATGCCGCCGGTGGCCAGCTGGGCATCCAGCAGCCGCAGGGCCTCCTCAGTAGGGATCAGCTCCTTCTTCATGGCCTGGAAGAGCGAGATGGTCTGCTCGGTGTAGGGGTCACGGTAGCCGGTGACCGCCCGCTCAGCCGAGAGCAGGCGGTCGTGCAGCTCGGGCCCCACGAGGCCCTTCCGCACAGCCTCATCCACAGTCAGCCGCTCCCCCTTCACCGGGTCCAGCAGGAAGCCTGTGGCTGCCTGTGCCTCCAGCAGCAGGCGGGCCACCTCGGCACTCAGCAGCCCTTTCTTGAGAGCCTGGTAGATGCTCAGTGTCTGCCTGGAACCGGGCAGGTAGACACCAGCCACGGAGCCCGTGCCATAGAGGTAGCACCAGGCGGACTCCGCCTCGAGAGCCTCACGGAGGCTCCTGGTGCCCTCCCGGAGCAGGTTGTAGGTCTCGAGAGAGATGATCCGAGCCTCGAACAGGTCCTCAGCCGTGAGGCGGCGGCGCACGTAGTCGTAGGAGGCCAGACCCTGCTGGCGGATGATCTCTGTCTTCTCAATGATCTCGATGATGATGATGATCATGCGTTCCTTGGTCACCCGGCCGGCCTGGAAGTCAGCCATCAGCTGGGCCCGCTGCTCCTCGGGGATCAGGTCCGACTGCATCACCTCCCACAGGGACATGGTGGAGCCGCCGTGGCTGCCGCCGCCGGGAATGTCGATCTGTGTCTCTTCAAATGCCCTTCTTGTCTCCTCCTCAGTGTACACCTGCGTGGTCTCCACCACCTCAGCCTTCTCCGCCCCTTTCAGTGGCAGAAGGCGCAAGCCCGTCTCGGGGTCCTCCACGCACCGCTCCAGCAGCTGCCTGTACGTGAGGTTCTCATGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCACTGAAGTAGCCGCGCTGGTAGGCCACGTCCACAGGCACGCGGTGGCTGTGCACGGGGTCGATGATGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTGCCGGAGAACCAGGCCCTTCTGCATGGCCTGGAAGAGGGAGATGGTGCTGCCCGAGTAGGGGTCTCTGTAGCCGGTGACGGCCTTCTCGGCAGACAGCAGCTGCTCGTGAAGCTCGGGGCCCACCACGCCCGCCTTCACGGCCTCGTGGACATACAGGCGCTGGTTCCGCACGGGGTCCACCAGGAAGCCAGTGGCCGCCTGCGCCTCCAGCAGGAGCGCAGCCGTTGTGGCTCTCAGCAGGCCCCGGCGCATGGCCTCGTAGATGGACACCTTCTCCTTGGTGTCCTCCAGGTAGATGCCGGCGAGGCAGCCACTGCCCTGCAGCAGCGTCCGCACGGAGCCCAGCTCCGAAAGGTCCTTGACCGTCGTCTTGCCGTCCTTGAGCTGCTCAAACTGGGCTCTGCTGAGGACCCCGGAAGCCAGGAGCTCGCTGGCTGGCACAGGGGCACGGAGGCCGCTGAAGGACAGCCTCTCCTGCCGCAGGGTCTCCACCTCCTCCACGATGGTAATGAGAATCTTGATGACCTTCTCCACGGTGACCTTGCCCGTGCGGAACTGACGCAACAGCTCCTGCCGCTGCTCCGCAGTGAAGTACTCAGAGCTGATGAGCTCCCACACCGTCACCGTCCTGCCCTTGAAGCCACCCACGGGGACCTCAACCGGGGTCTTTTCAAAGGTCTCACGGGCCTGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCACCGCTGCTGGAGCTCGCCGTAGGTGGCCGGCTCCCCTGTGCTGGGGTCACTGTAGGCCTTGGCGTCGGCCCTTGGTGCCGACAGGGCCCTGCTGGTCTCCTCATCCAGGCAGCCTCGGGCGCAGGCGACATCCAGGGGCACGCGGTGGCTCTTGCTGGGGTCCACGATGCCGCCCGTGGACAGCTGGGCGTCCAACAGGCGCAGGCCCTGCTCCCGGGGAATGAGGCCCTTCTTCAGGGCCTGGAACAGGGAGACGCTCTGCCCTGTGTAGGGGTCCCTGTACCCTGTCACAGCCTTCTCGGCTGATAGCAGCTTCTCATGAAACTCGGGGCCCACCAGGCCAGCACGCACTGCCTCGTCCACGGTCAGCCGGGCGCTGGTGGCGGGGTCGATGATGTGCCCGGTGCCGGCCTGGGCTTCCAACAGGGCCACGGCCATGTCGGATGGCAGCAGGTCTTTCTTCAGGGCATTGTAGATACTCAGCTTCTGCCCCGCCTCCTCCAGCCATACACCCGCGATGACGTTGGCACCCCGGAGAGCCCGCCGCACAGTGTCCACCTCGGCTACGTCTCGCACAGAGCGCTCACCTCGCTGCAGCTGCTGGTAGAGCTCGCGGTCGATGACCCTGCTCTCCAGCAGCTCGGCGGCTGGCACCAGGCTGCGCAGGCCCTCAAAGCAAAGCCGGCCCTTCTGCTCCTGCTCCTCCACCACCGTGATGATGATCTTGATGATCTTCTCCACTGTGATCCGGCCCGTGCGGAACTGCCGCAGCAGGTCCCGCCGCTGCTCTGCCGTGAAGTATTCCGAGTTGATGATCTCCCAAATGGTCACCGTCTTGCCCTGGAACTTGCCGAACGGCGCAGACACGGTGGCCTTCTCAAAGACGTCCCGGGCCTCGGAGTCAGTGTAGACCAGCTCCCCGCCCTTGGCAGCCTTATCCGTGAGTGGCAGAAGGCACAGGCCCGTCTCGGGGTCCTCCACGCAGCGCTCCAGTAGCTGCAGGTACGTGAGGTTCTCGTGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATAACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGCCCTTCTGCATGGCTTGGAAGAGAGAGATCTGCTGGCCAGTGTAGGGGTCCTTGTAGCCAGTGACGGCGCGCTCGGCCGACAGCAGCTTGTGGTGCAGCTCGGGGCCCACCACACCCTCCTTCACAGCCTCGTTGACGGTCAGCCGCCGGTTCCGCACAGGGTCCAGCAGGAAGCCTGAGGCCGCCTGCGCCTCCAGCAGGATGAGGGCCGTGCCGGGACTCAGCAGCTGCCTCTGCAGGGCGGCGTAAACACTCAGCTTCTCATTGGTGGCCTTCAGCAACAGCCCTGCGATACTGCTGCGGCCCTGCAGGTAGTGGCGCACGTCTTCCCGCCGTGCGAGCTCGTCCACCGTGGTGTGGCCCTGCGCCAACCGCTGCAGCTCCTCCGCACTCAGGATGCCGGCCTCCTGCAGCCTCTGAGCTGACACCTTCCGCCGCAGGCCATCGAAGCTGTGCTCCGGCTCTGCCTCTGCCGCGGGGCCATCAAGTGCATCCCGGCCATTGGGCAGGGTCTTTGTGGCAGCCACCTGCGAGGCAGTGACCTCCTCTGAGTGCGCCAGCGCGGCCCGGTGCTGCTCCTCCAGGAGCTGCAGCTGCTCACGCAGCCTCTGGTTCTCCTCAGCCAGCAGCTCCTCCTGCTGCCGCCGCTGCTGCTCCAGCTGCTGCAGCTCCTCCTGCTTGCGCCGCACGCCCTCCTCGGCCTCATGCTGCCGCCGCCGCGCCTCCTCCATGCTGGCCACCAGCCGCTGCCGTTCCTGCTCCATCTGCTGCTGCTGCCGCTGCTGCTCCTCACGCAGCTGCTGTGCCTTGGCCACCTCGTCCTGGAAGAGCTGCTCCAGCTTGGCCTTCTCCTGCTCGATGAAGCGCTCCCG | TGCCGTCGTCACGACGGCACCGCCTGAGCAGCTGCGTGTAGCTGAGGCGCTCGTCGGTGGACGGGTCCACGTAGCTGCGCACCTCGCTGGGCTCTGACAGCTGGTCGTGCGTGTCCTTGTTGAGGTAGCCACGCTGGTAAGCCACCTCCAGGGGAAGGTGGAAGCCCAGGCGGGGGTCCACGATGCCGCCGGTGGCCAGCTGGGCATCCAGCAGCCGCAGGGCCTCCTCAGTAGGGATCAGCTCCTTCTTCATGGCCTGGAAGAGCGAGATGGTCTGCTCGGTGTAGGGGTCACGGTAGCCGGTGACCGCCCGCTCAGCCGAGAGCAGGCGGTCGTGCAGCTCGGGCCCCACGAGGCCCTTCCGCACAGCCTCATCCACAGTCAGCCGCTCCCCCTTCACCGGGTCCAGCAGGAAGCCTGTGGCTGCCTGTGCCTCCAGCAGCAGGCGGGCCACCTCGGCACTCAGCAGCCCTTTCTTGAGAGCCTGGTAGATGCTCAGTGTCTGCCTGGAACCGGGCAGGTAGACACCAGCCACGGAGCCCGTGCCATAGAGGTAGCACCAGGCGGACTCCGCCTCGAGAGCCTCACGGAGGCTCCTGGTGCCCTCCCGGAGCAGGTTGTAGGTCTCGAGAGAGATGATCCGAGCCTCGAACAGGTCCTCAGCCGTGAGGCGGCGGCGCACGTAGTCGTAGGAGGCCAGACCCTGCTGGCGGATGATCTCTGTCTTCTCAATGATCTCGATGATGATGATGATCATGCGTTCCTTGGTCACCCGGCCGGCCTGGAAGTCAGCCATCAGCTGGGCCCGCTGCTCCTCGGGGATCAGGTCCGACTGCATCACCTCCCACAGGGACATGGTGGAGCCGCCGTGGCTGCCGCCGCCGGGAATGTCGATCTGTGTCTCTTCAAATGCCCTTCTTGTCTCCTCCTCAGTGTACACCTGCGTGGTCTCCACCACCTCAGCCTTCTCCGCCCCTTTCAGTGGCAGAAGGCGCAAGCCCGTCTCGGGGTCCTCCACGCACCGCTCCAGCAGCTGCCTGTACGTGAGGTTCTCATGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCACTGAAGTAGCCGCGCTGGTAGGCCACGTCCACAGGCACGCGGTGGCTGTGCACGGGGTCGATGATGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTGCCGGAGAACCAGGCCCTTCTGCATGGCCTGGAAGAGGGAGATGGTGCTGCCCGAGTAGGGGTCTCTGTAGCCGGTGACGGCCTTCTCGGCAGACAGCAGCTGCTCGTGAAGCTCGGGGCCCACCACGCCCGCCTTCACGGCCTCGTGGACATACAGGCGCTGGTTCCGCACGGGGTCCACCAGGAAGCCAGTGGCCGCCTGCGCCTCCAGCAGGAGCGCAGCCGTTGTGGCTCTCAGCAGGCCCCGGCGCATGGCCTCGTAGATGGACACCTTCTCCTTGGTGTCCTCCAGGTAGATGCCGGCGAGGCAGCCACTGCCCTGCAGCAGCGTCCGCACGGAGCCCAGCTCCGAAAGGTCCTTGACCGTCGTCTTGCCGTCCTTGAGCTGCTCAAACTGGGCTCTGCTGAGGACCCCGGAAGCCAGGAGCTCGCTGGCTGGCACAGGGGCACGGAGGCCGCTGAAGGACAGCCTCTCCTGCCGCAGGGTCTCCACCTCCTCCACGATGGTAATGAGAATCTTGATGACCTTCTCCACGGTGACCTTGCCCGTGCGGAACTGACGCAACAGCTCCTGCCGCTGCTCCGCAGTGAAGTACTCAGAGCTGATGAGCTCCCACACCGTCACCGTCCTGCCCTTGAAGCCACCCACGGGGACCTCAACCGGGGTCTTTTCAAAGGTCTCACGGGCCTGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCACCGCTGCTGGAGCTCGCCGTAGGTGGCCGGCTCCCGTGCTGGGGTCACTGTAGGCCTTGGCGTCGGCCCTTGGTGCCGACAGGGCCCTGCTGGTCTCCTCATCCAGGCAGCCTCGGGCGCAGGCGACATCCAGGGGCACGCGGTGGCTCTTGCTGGGGTCCACGATGCCGCCCGTGGACAGCTGGGCGTCCAACAGGCGCAGGCCCTGCTCCCGGGGAATGAGGCCCTTCTTCAGGGCCTGGAACAGGGAGACGCTCTGCCCTGTGTAGGGGTCCCTGTACCCTGTCACAGCCTTCTCGGCTGATAGCAGCTTCTCATGAAACTCGGGGCCCACCAGGCCAGCACGCACTGCCTCGTCCACGGTCAGCCGGGCGCTGGTGGCGGGGTCGATGATGTGCCCGGTGCCGGCCTGGGCTTCCAACAGGGCCACGGCCATGTCGGATGGCAGCAGGTCTTTCTTCAGGGCATTGTAGATACTCAGCTTCTGCCCCGCCTCCTCCAGCCATACACCCGCGATGACGTTGGCACCCCGGAGAGCCCGCCGCACAGTGTCCACCTCGGCTACGTCTCGCACAGAGCGCTCACCTCGCTGCAGCTGCTGGTAGAGCTCGCGGTCGATGACCCTGCTCTCCAGCAGCTCGGCGGCTGGCACCAGGCTGCGCAGGCCCTCAAAGCAAAGCCGGCCCTTCTGCTCCTGCTCCTCCACCACCGTGATGATGATCTTGATGATCTTCTCCACTGTGATCCGGCCCGTGCGGAACTGCCGCAGCAGGTCCCGCCGCTGCTCTGCCGTGAAGTATTCCGAGTTGATGATCTCCCAAATGGTCACCGTCTTGCCCTGGAACTTGCCGAACGGCGCAGACACGGTGGCCTTCTCAAAGACGTCCCGGGCCTCGGAGTCAGTGTAGACCAGCTCCCCGCCCTTGGCAGCCTTATCCGTGAGTGGCAGAAGGCACAGGCCCGTCTCGGGGTCCTCCACGCAGCGCTCCAGTAGCTGCAGGTACGTGAGGTTCTCGTGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATAACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGCCCTTCTGCATGGCTTGGAAGAGAGAGATCTGCTGGCCAGTGTAGGGGTCCTTGTAGCCAGTGACGGCGCGCTCGGCCGACAGCAGCTTGTGGTGCAGCTCGGGGCCCACCACACCCTCCTTCACAGCCTCGTTGACGGTCAGCCGCCGGTTCCGCACAGGGTCCAGCAGGAAGCCTGAGGCCGCCTGCGCCTCCAGCAGGATGAGGGCCGTGCCGGGACTCAGCAGCTGCCTCTGCAGGGCGGCGTAAACACTCAGCTTCTCATTGGTGGCCTTCAGCAACAGCCCTGCGATACTGCTGCGGCCCTGCAGGTAGTGGCGCACGTCTTCCCGCCGTGCGAGCTCGTCCACCGTGGTGTGGCCCTGCGCCAACCGCTGCAGCTCCTCCGCACTCAGGATGCCGGCCTCCTGCAGCCTCTGAGCTGACACCTTCCGCCGCAGGCCATCGAAGCTGTGCTCCGGCTCTGCCTCTGCCGCGGGGCCATCAAGTGCATCCCGGCCATTGGGCAGGGTCTTTGTGGCAGCCACCTGCGAGGCAGTGACCTCCTCTGAGTGCGCCAGCGCGGCCCGGTGCTGCTCCTCCAGGAGCTGCAGCTGCTCACGCAGCCTCTGGTTCTCCTCAGCCAGCAGCTCCTCCTGCTGCCGCCGCTGCTGCTCCAGCTGCTGCAGCTCCTCCTGCTTGCGCCGCACGCCCTCCTCGGCCTCATGCTGCCGCCGCCGCGCCTCCTCCATGCTGGCCACCAGCCGCTGCCGTTCCTGCTCCATCTGCTGCTGCTGCCGCTGCTGCTCCTCACGCAGCTGCTGTGCCTTGGCCACCTCGTCCTGGAAGAGCTGCTCCAGCTTGGCCTTCTCCTGCTCGATGAAGCGCTCCCGNN | pathogenic | 140,113 |
Considering the genetic mutation at chromosome 8, position 143920820, impacting PLEC (plectin): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q', 'Epidermolysis_bullosa_simplex,_Ogna_type', 'Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy', 'Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia', 'Epidermolysis_bullosa_simplex_with_nail_dystrophy'] | CCAGGCGGACTCCGCCTCGAGAGCCTCACGGAGGCTCCTGGTGCCCTCCCGGAGCAGGTTGTAGGTCTCGAGAGAGATGATCCGAGCCTCGAACAGGTCCTCAGCCGTGAGGCGGCGGCGCACGTAGTCGTAGGAGGCCAGACCCTGCTGGCGGATGATCTCTGTCTTCTCAATGATCTCGATGATGATGATGATCATGCGTTCCTTGGTCACCCGGCCGGCCTGGAAGTCAGCCATCAGCTGGGCCCGCTGCTCCTCGGGGATCAGGTCCGACTGCATCACCTCCCACAGGGACATGGTGGAGCCGCCGTGGCTGCCGCCGCCGGGAATGTCGATCTGTGTCTCTTCAAATGCCCTTCTTGTCTCCTCCTCAGTGTACACCTGCGTGGTCTCCACCACCTCAGCCTTCTCCGCCCCTTTCAGTGGCAGAAGGCGCAAGCCCGTCTCGGGGTCCTCCACGCACCGCTCCAGCAGCTGCCTGTACGTGAGGTTCTCATGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCACTGAAGTAGCCGCGCTGGTAGGCCACGTCCACAGGCACGCGGTGGCTGTGCACGGGGTCGATGATGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTGCCGGAGAACCAGGCCCTTCTGCATGGCCTGGAAGAGGGAGATGGTGCTGCCCGAGTAGGGGTCTCTGTAGCCGGTGACGGCCTTCTCGGCAGACAGCAGCTGCTCGTGAAGCTCGGGGCCCACCACGCCCGCCTTCACGGCCTCGTGGACATACAGGCGCTGGTTCCGCACGGGGTCCACCAGGAAGCCAGTGGCCGCCTGCGCCTCCAGCAGGAGCGCAGCCGTTGTGGCTCTCAGCAGGCCCCGGCGCATGGCCTCGTAGATGGACACCTTCTCCTTGGTGTCCTCCAGGTAGATGCCGGCGAGGCAGCCACTGCCCTGCAGCAGCGTCCGCACGGAGCCCAGCTCCGAAAGGTCCTTGACCGTCGTCTTGCCGTCCTTGAGCTGCTCAAACTGGGCTCTGCTGAGGACCCCGGAAGCCAGGAGCTCGCTGGCTGGCACAGGGGCACGGAGGCCGCTGAAGGACAGCCTCTCCTGCCGCAGGGTCTCCACCTCCTCCACGATGGTAATGAGAATCTTGATGACCTTCTCCACGGTGACCTTGCCCGTGCGGAACTGACGCAACAGCTCCTGCCGCTGCTCCGCAGTGAAGTACTCAGAGCTGATGAGCTCCCACACCGTCACCGTCCTGCCCTTGAAGCCACCCACGGGGACCTCAACCGGGGTCTTTTCAAAGGTCTCACGGGCCTGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCACCGCTGCTGGAGCTCGCCGTAGGTGGCCGGCTCCCCTGTGCTGGGGTCACTGTAGGCCTTGGCGTCGGCCCTTGGTGCCGACAGGGCCCTGCTGGTCTCCTCATCCAGGCAGCCTCGGGCGCAGGCGACATCCAGGGGCACGCGGTGGCTCTTGCTGGGGTCCACGATGCCGCCCGTGGACAGCTGGGCGTCCAACAGGCGCAGGCCCTGCTCCCGGGGAATGAGGCCCTTCTTCAGGGCCTGGAACAGGGAGACGCTCTGCCCTGTGTAGGGGTCCCTGTACCCTGTCACAGCCTTCTCGGCTGATAGCAGCTTCTCATGAAACTCGGGGCCCACCAGGCCAGCACGCACTGCCTCGTCCACGGTCAGCCGGGCGCTGGTGGCGGGGTCGATGATGTGCCCGGTGCCGGCCTGGGCTTCCAACAGGGCCACGGCCATGTCGGATGGCAGCAGGTCTTTCTTCAGGGCATTGTAGATACTCAGCTTCTGCCCCGCCTCCTCCAGCCATACACCCGCGATGACGTTGGCACCCCGGAGAGCCCGCCGCACAGTGTCCACCTCGGCTACGTCTCGCACAGAGCGCTCACCTCGCTGCAGCTGCTGGTAGAGCTCGCGGTCGATGACCCTGCTCTCCAGCAGCTCGGCGGCTGGCACCAGGCTGCGCAGGCCCTCAAAGCAAAGCCGGCCCTTCTGCTCCTGCTCCTCCACCACCGTGATGATGATCTTGATGATCTTCTCCACTGTGATCCGGCCCGTGCGGAACTGCCGCAGCAGGTCCCGCCGCTGCTCTGCCGTGAAGTATTCCGAGTTGATGATCTCCCAAATGGTCACCGTCTTGCCCTGGAACTTGCCGAACGGCGCAGACACGGTGGCCTTCTCAAAGACGTCCCGGGCCTCGGAGTCAGTGTAGACCAGCTCCCCGCCCTTGGCAGCCTTATCCGTGAGTGGCAGAAGGCACAGGCCCGTCTCGGGGTCCTCCACGCAGCGCTCCAGTAGCTGCAGGTACGTGAGGTTCTCGTGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATAACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGCCCTTCTGCATGGCTTGGAAGAGAGAGATCTGCTGGCCAGTGTAGGGGTCCTTGTAGCCAGTGACGGCGCGCTCGGCCGACAGCAGCTTGTGGTGCAGCTCGGGGCCCACCACACCCTCCTTCACAGCCTCGTTGACGGTCAGCCGCCGGTTCCGCACAGGGTCCAGCAGGAAGCCTGAGGCCGCCTGCGCCTCCAGCAGGATGAGGGCCGTGCCGGGACTCAGCAGCTGCCTCTGCAGGGCGGCGTAAACACTCAGCTTCTCATTGGTGGCCTTCAGCAACAGCCCTGCGATACTGCTGCGGCCCTGCAGGTAGTGGCGCACGTCTTCCCGCCGTGCGAGCTCGTCCACCGTGGTGTGGCCCTGCGCCAACCGCTGCAGCTCCTCCGCACTCAGGATGCCGGCCTCCTGCAGCCTCTGAGCTGACACCTTCCGCCGCAGGCCATCGAAGCTGTGCTCCGGCTCTGCCTCTGCCGCGGGGCCATCAAGTGCATCCCGGCCATTGGGCAGGGTCTTTGTGGCAGCCACCTGCGAGGCAGTGACCTCCTCTGAGTGCGCCAGCGCGGCCCGGTGCTGCTCCTCCAGGAGCTGCAGCTGCTCACGCAGCCTCTGGTTCTCCTCAGCCAGCAGCTCCTCCTGCTGCCGCCGCTGCTGCTCCAGCTGCTGCAGCTCCTCCTGCTTGCGCCGCACGCCCTCCTCGGCCTCATGCTGCCGCCGCCGCGCCTCCTCCATGCTGGCCACCAGCCGCTGCCGTTCCTGCTCCATCTGCTGCTGCTGCCGCTGCTGCTCCTCACGCAGCTGCTGTGCCTTGGCCACCTCGTCCTGGAAGAGCTGCTCCAGCTTGGCCTTCTCCTGCTCGATGAAGCGCTCCCGCTGTAGCAGGCTGTCCTTTTCAGAGAGGAAGCTTTGCTGCAGGGCCTGCGTCTCCTGCAGCAGCTGCTCCTGCTGCACCGTCTGCATCTGCAGAAGAAGAGGGTGTGATCAGGGACCGCCAGCCCAGGAGCACCCATCACCCACCAAAGCAGATCCCCGGGCCCACCCGCCCGTCGCACGTAGAGGGGGCGGTACCTCCTCAGACTTGAGCTGCAGCAGTTTGGCCTCCTGTTGGAGCTTCTCCTTCTCACGCTCCAGCTCAGCGATGGCCTCCCGCAGGCGCTCGGCATCATGGTCACTCTGCTGTCGCTGGATCTCCAGTGTCTGCACCAGGGTCACCTTCTCCTGGGTGGCGAGCTCCGTGCGGTGCAGCTTCTCACCGATCTCCTCCGCCTGCTTCCGGAAGCGCTGGGCGTCCTCCTCAGCGCGGGCCTGGGCTCGGCTCATCTCGGCCACACGCAGCTTGAGGCGCTCAGCCTCAGCGCTCATCTCCAGCTGCCGCTGCCGCTCGGCCTCCAGCGTCCGCTGGAAGCCCTGCGTCTCCTCCGCCAGCTGCTGC | CCAGGCGGACTCCGCCTCGAGAGCCTCACGGAGGCTCCTGGTGCCCTCCCGGAGCAGGTTGTAGGTCTCGAGAGAGATGATCCGAGCCTCGAACAGGTCCTCAGCCGTGAGGCGGCGGCGCACGTAGTCGTAGGAGGCCAGACCCTGCTGGCGGATGATCTCTGTCTTCTCAATGATCTCGATGATGATGATGATCATGCGTTCCTTGGTCACCCGGCCGGCCTGGAAGTCAGCCATCAGCTGGGCCCGCTGCTCCTCGGGGATCAGGTCCGACTGCATCACCTCCCACAGGGACATGGTGGAGCCGCCGTGGCTGCCGCCGCCGGGAATGTCGATCTGTGTCTCTTCAAATGCCCTTCTTGTCTCCTCCTCAGTGTACACCTGCGTGGTCTCCACCACCTCAGCCTTCTCCGCCCCTTTCAGTGGCAGAAGGCGCAAGCCCGTCTCGGGGTCCTCCACGCACCGCTCCAGCAGCTGCCTGTACGTGAGGTTCTCATGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCACTGAAGTAGCCGCGCTGGTAGGCCACGTCCACAGGCACGCGGTGGCTGTGCACGGGGTCGATGATGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTGCCGGAGAACCAGGCCCTTCTGCATGGCCTGGAAGAGGGAGATGGTGCTGCCCGAGTAGGGGTCTCTGTAGCCGGTGACGGCCTTCTCGGCAGACAGCAGCTGCTCGTGAAGCTCGGGGCCCACCACGCCCGCCTTCACGGCCTCGTGGACATACAGGCGCTGGTTCCGCACGGGGTCCACCAGGAAGCCAGTGGCCGCCTGCGCCTCCAGCAGGAGCGCAGCCGTTGTGGCTCTCAGCAGGCCCCGGCGCATGGCCTCGTAGATGGACACCTTCTCCTTGGTGTCCTCCAGGTAGATGCCGGCGAGGCAGCCACTGCCCTGCAGCAGCGTCCGCACGGAGCCCAGCTCCGAAAGGTCCTTGACCGTCGTCTTGCCGTCCTTGAGCTGCTCAAACTGGGCTCTGCTGAGGACCCCGGAAGCCAGGAGCTCGCTGGCTGGCACAGGGGCACGGAGGCCGCTGAAGGACAGCCTCTCCTGCCGCAGGGTCTCCACCTCCTCCACGATGGTAATGAGAATCTTGATGACCTTCTCCACGGTGACCTTGCCCGTGCGGAACTGACGCAACAGCTCCTGCCGCTGCTCCGCAGTGAAGTACTCAGAGCTGATGAGCTCCCACACCGTCACCGTCCTGCCCTTGAAGCCACCCACGGGGACCTCAACCGGGGTCTTTTCAAAGGTCTCACGGGCCTGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCACCGCTGCTGGAGCTCGCCGTAGGTGGCCGGCTCCCCTGTGCTGGGGTCACTGTAGGCCTTGGCGTCGGCCCTTGGTGCCGACAGGGCCCTGCTGGTCTCCTCATCCAGGCAGCCTCGGGCGCAGGCGACATCCAGGGGCACGCGGTGGCTCTTGCTGGGGTCCACGATGCCGCCCGTGGACAGCTGGGCGTCCAACAGGCGCAGGCCCTGCTCCCGGGGAATGAGGCCCTTCTTCAGGGCCTGGAACAGGGAGACGCTCTGCCCTGTGTAGGGGTCCCTGTACCCTGTCACAGCCTTCTCGGCTGATAGCAGCTTCTCATGAAACTCGGGGCCCACCAGGCCAGCACGCACTGCCTCGTCCACGGTCAGCCGGGCGCTGGTGGCGGGGTCGATGATGTGCCCGGTGCCGGCCTGGGCTTCCAACAGGGCCACGGCCATGTCGGATGGCAGCAGGTCTTTCTTCAGGGCATTGTAGATACTCAGCTTCTGCCCCGCCTCCTCCAGCCATACACCCGCGATGACGTTGGCACCCCGGAGAGCCCGCCGCACAGTGTCCACCTCGGCTACGTCTCGCACAGAGCGCTCACCTCGCTAAAGCTGCTGGTAGAGCTCGCGGTCGATGACCCTGCTCTCCAGCAGCTCGGCGGCTGGCACCAGGCTGCGCAGGCCCTCAAAGCAAAGCCGGCCCTTCTGCTCCTGCTCCTCCACCACCGTGATGATGATCTTGATGATCTTCTCCACTGTGATCCGGCCCGTGCGGAACTGCCGCAGCAGGTCCCGCCGCTGCTCTGCCGTGAAGTATTCCGAGTTGATGATCTCCCAAATGGTCACCGTCTTGCCCTGGAACTTGCCGAACGGCGCAGACACGGTGGCCTTCTCAAAGACGTCCCGGGCCTCGGAGTCAGTGTAGACCAGCTCCCCGCCCTTGGCAGCCTTATCCGTGAGTGGCAGAAGGCACAGGCCCGTCTCGGGGTCCTCCACGCAGCGCTCCAGTAGCTGCAGGTACGTGAGGTTCTCGTGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATAACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGCCCTTCTGCATGGCTTGGAAGAGAGAGATCTGCTGGCCAGTGTAGGGGTCCTTGTAGCCAGTGACGGCGCGCTCGGCCGACAGCAGCTTGTGGTGCAGCTCGGGGCCCACCACACCCTCCTTCACAGCCTCGTTGACGGTCAGCCGCCGGTTCCGCACAGGGTCCAGCAGGAAGCCTGAGGCCGCCTGCGCCTCCAGCAGGATGAGGGCCGTGCCGGGACTCAGCAGCTGCCTCTGCAGGGCGGCGTAAACACTCAGCTTCTCATTGGTGGCCTTCAGCAACAGCCCTGCGATACTGCTGCGGCCCTGCAGGTAGTGGCGCACGTCTTCCCGCCGTGCGAGCTCGTCCACCGTGGTGTGGCCCTGCGCCAACCGCTGCAGCTCCTCCGCACTCAGGATGCCGGCCTCCTGCAGCCTCTGAGCTGACACCTTCCGCCGCAGGCCATCGAAGCTGTGCTCCGGCTCTGCCTCTGCCGCGGGGCCATCAAGTGCATCCCGGCCATTGGGCAGGGTCTTTGTGGCAGCCACCTGCGAGGCAGTGACCTCCTCTGAGTGCGCCAGCGCGGCCCGGTGCTGCTCCTCCAGGAGCTGCAGCTGCTCACGCAGCCTCTGGTTCTCCTCAGCCAGCAGCTCCTCCTGCTGCCGCCGCTGCTGCTCCAGCTGCTGCAGCTCCTCCTGCTTGCGCCGCACGCCCTCCTCGGCCTCATGCTGCCGCCGCCGCGCCTCCTCCATGCTGGCCACCAGCCGCTGCCGTTCCTGCTCCATCTGCTGCTGCTGCCGCTGCTGCTCCTCACGCAGCTGCTGTGCCTTGGCCACCTCGTCCTGGAAGAGCTGCTCCAGCTTGGCCTTCTCCTGCTCGATGAAGCGCTCCCGCTGTAGCAGGCTGTCCTTTTCAGAGAGGAAGCTTTGCTGCAGGGCCTGCGTCTCCTGCAGCAGCTGCTCCTGCTGCACCGTCTGCATCTGCAGAAGAAGAGGGTGTGATCAGGGACCGCCAGCCCAGGAGCACCCATCACCCACCAAAGCAGATCCCCGGGCCCACCCGCCCGTCGCACGTAGAGGGGGCGGTACCTCCTCAGACTTGAGCTGCAGCAGTTTGGCCTCCTGTTGGAGCTTCTCCTTCTCACGCTCCAGCTCAGCGATGGCCTCCCGCAGGCGCTCGGCATCATGGTCACTCTGCTGTCGCTGGATCTCCAGTGTCTGCACCAGGGTCACCTTCTCCTGGGTGGCGAGCTCCGTGCGGTGCAGCTTCTCACCGATCTCCTCCGCCTGCTTCCGGAAGCGCTGGGCGTCCTCCTCAGCGCGGGCCTGGGCTCGGCTCATCTCGGCCACACGCAGCTTGAGGCGCTCAGCCTCAGCGCTCATCTCCAGCTGCCGCTGCCGCTCGGCCTCCAGCGTCCGCTGGAAGCCCTGCGTCTCCTCCGCCAGCTGCTGC | pathogenic | 140,126 |
Evaluate the clinical significance of the mutation at chromosome 8, position 143921736 in gene PLEC (plectin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q', 'Epidermolysis_bullosa_simplex,_Ogna_type', 'Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy', 'Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia', 'Epidermolysis_bullosa_simplex_with_nail_dystrophy'] | CCCCGGCGCATGGCCTCGTAGATGGACACCTTCTCCTTGGTGTCCTCCAGGTAGATGCCGGCGAGGCAGCCACTGCCCTGCAGCAGCGTCCGCACGGAGCCCAGCTCCGAAAGGTCCTTGACCGTCGTCTTGCCGTCCTTGAGCTGCTCAAACTGGGCTCTGCTGAGGACCCCGGAAGCCAGGAGCTCGCTGGCTGGCACAGGGGCACGGAGGCCGCTGAAGGACAGCCTCTCCTGCCGCAGGGTCTCCACCTCCTCCACGATGGTAATGAGAATCTTGATGACCTTCTCCACGGTGACCTTGCCCGTGCGGAACTGACGCAACAGCTCCTGCCGCTGCTCCGCAGTGAAGTACTCAGAGCTGATGAGCTCCCACACCGTCACCGTCCTGCCCTTGAAGCCACCCACGGGGACCTCAACCGGGGTCTTTTCAAAGGTCTCACGGGCCTGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCACCGCTGCTGGAGCTCGCCGTAGGTGGCCGGCTCCCCTGTGCTGGGGTCACTGTAGGCCTTGGCGTCGGCCCTTGGTGCCGACAGGGCCCTGCTGGTCTCCTCATCCAGGCAGCCTCGGGCGCAGGCGACATCCAGGGGCACGCGGTGGCTCTTGCTGGGGTCCACGATGCCGCCCGTGGACAGCTGGGCGTCCAACAGGCGCAGGCCCTGCTCCCGGGGAATGAGGCCCTTCTTCAGGGCCTGGAACAGGGAGACGCTCTGCCCTGTGTAGGGGTCCCTGTACCCTGTCACAGCCTTCTCGGCTGATAGCAGCTTCTCATGAAACTCGGGGCCCACCAGGCCAGCACGCACTGCCTCGTCCACGGTCAGCCGGGCGCTGGTGGCGGGGTCGATGATGTGCCCGGTGCCGGCCTGGGCTTCCAACAGGGCCACGGCCATGTCGGATGGCAGCAGGTCTTTCTTCAGGGCATTGTAGATACTCAGCTTCTGCCCCGCCTCCTCCAGCCATACACCCGCGATGACGTTGGCACCCCGGAGAGCCCGCCGCACAGTGTCCACCTCGGCTACGTCTCGCACAGAGCGCTCACCTCGCTGCAGCTGCTGGTAGAGCTCGCGGTCGATGACCCTGCTCTCCAGCAGCTCGGCGGCTGGCACCAGGCTGCGCAGGCCCTCAAAGCAAAGCCGGCCCTTCTGCTCCTGCTCCTCCACCACCGTGATGATGATCTTGATGATCTTCTCCACTGTGATCCGGCCCGTGCGGAACTGCCGCAGCAGGTCCCGCCGCTGCTCTGCCGTGAAGTATTCCGAGTTGATGATCTCCCAAATGGTCACCGTCTTGCCCTGGAACTTGCCGAACGGCGCAGACACGGTGGCCTTCTCAAAGACGTCCCGGGCCTCGGAGTCAGTGTAGACCAGCTCCCCGCCCTTGGCAGCCTTATCCGTGAGTGGCAGAAGGCACAGGCCCGTCTCGGGGTCCTCCACGCAGCGCTCCAGTAGCTGCAGGTACGTGAGGTTCTCGTGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATAACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGCCCTTCTGCATGGCTTGGAAGAGAGAGATCTGCTGGCCAGTGTAGGGGTCCTTGTAGCCAGTGACGGCGCGCTCGGCCGACAGCAGCTTGTGGTGCAGCTCGGGGCCCACCACACCCTCCTTCACAGCCTCGTTGACGGTCAGCCGCCGGTTCCGCACAGGGTCCAGCAGGAAGCCTGAGGCCGCCTGCGCCTCCAGCAGGATGAGGGCCGTGCCGGGACTCAGCAGCTGCCTCTGCAGGGCGGCGTAAACACTCAGCTTCTCATTGGTGGCCTTCAGCAACAGCCCTGCGATACTGCTGCGGCCCTGCAGGTAGTGGCGCACGTCTTCCCGCCGTGCGAGCTCGTCCACCGTGGTGTGGCCCTGCGCCAACCGCTGCAGCTCCTCCGCACTCAGGATGCCGGCCTCCTGCAGCCTCTGAGCTGACACCTTCCGCCGCAGGCCATCGAAGCTGTGCTCCGGCTCTGCCTCTGCCGCGGGGCCATCAAGTGCATCCCGGCCATTGGGCAGGGTCTTTGTGGCAGCCACCTGCGAGGCAGTGACCTCCTCTGAGTGCGCCAGCGCGGCCCGGTGCTGCTCCTCCAGGAGCTGCAGCTGCTCACGCAGCCTCTGGTTCTCCTCAGCCAGCAGCTCCTCCTGCTGCCGCCGCTGCTGCTCCAGCTGCTGCAGCTCCTCCTGCTTGCGCCGCACGCCCTCCTCGGCCTCATGCTGCCGCCGCCGCGCCTCCTCCATGCTGGCCACCAGCCGCTGCCGTTCCTGCTCCATCTGCTGCTGCTGCCGCTGCTGCTCCTCACGCAGCTGCTGTGCCTTGGCCACCTCGTCCTGGAAGAGCTGCTCCAGCTTGGCCTTCTCCTGCTCGATGAAGCGCTCCCGCTGTAGCAGGCTGTCCTTTTCAGAGAGGAAGCTTTGCTGCAGGGCCTGCGTCTCCTGCAGCAGCTGCTCCTGCTGCACCGTCTGCATCTGCAGAAGAAGAGGGTGTGATCAGGGACCGCCAGCCCAGGAGCACCCATCACCCACCAAAGCAGATCCCCGGGCCCACCCGCCCGTCGCACGTAGAGGGGGCGGTACCTCCTCAGACTTGAGCTGCAGCAGTTTGGCCTCCTGTTGGAGCTTCTCCTTCTCACGCTCCAGCTCAGCGATGGCCTCCCGCAGGCGCTCGGCATCATGGTCACTCTGCTGTCGCTGGATCTCCAGTGTCTGCACCAGGGTCACCTTCTCCTGGGTGGCGAGCTCCGTGCGGTGCAGCTTCTCACCGATCTCCTCCGCCTGCTTCCGGAAGCGCTGGGCGTCCTCCTCAGCGCGGGCCTGGGCTCGGCTCATCTCGGCCACACGCAGCTTGAGGCGCTCAGCCTCAGCGCTCATCTCCAGCTGCCGCTGCCGCTCGGCCTCCAGCGTCCGCTGGAAGCCCTGCGTCTCCTCCGCCAGCTGCTGCGCCATCTGCTCCTTGTCCTCCTGCAGCCGCCGCGCCTGCTCCTGCGCAAGCTCCTTCTGCTGCTGCAGCAGTTCCGCCTCAGCCTTGAGTCGCGTGGCCTCCTGCACCGCCTGCATCTTCTCCTTGAGCATCTTCTCTGCCAAGGCCCGCTGCTGTGCCAGGTCCTCCTCTGCCAGCTGCCGCAGTCGCGCAGCCTCTTGGGCCGCCACACTCAGCCGCGCGGCCTCCTCCGCCACCTGCTTCATCTTCTCAGCCTCCTCCTGCAGGAAGCGCTGCGTATTGTCCTTGTCACGCAAGATGAGTGCGCGGTTCTCAGCCTCGATGCGTGCCTTGAGCTTGCTCAGCTCCTCCATCTGCACGCGCACCGAGAAGAGCTCCTCCTCCACCTGGCTGCGCTGGCGTGCGGCCTCCGTGGCCTCCGCCTTCAGCCGCTGCAGCTCCTCGTCCAGCAGGTTCTTCTGGTGGTCGGTCTCCTCCAGCTGCAGCCGCAGTGTTGTCAGCTCCTGCTCCACCTGCGCCTTCTGCCGCAGCGTCTGCTCGGCGAATTTCTTATGCTTCTCCATCTCCGCGTCAGCTGCCTGCTTCTGCCGCAGGGCCGCCTGCTCCGCCTGTGCCCGCCGCGCCGCCTCTTGCTCGGCCTCCTTGCGCAGCTTCTCTGCAGCCGCCTGTGCCTGAGCCCGGGCCTGTGCCTGCTCCTCTGCCGACTGCTTCAGCCGCTCGGCCTCTTCCACCTGCCGCCGGGACTGCGCCGCCTCACGCTCCGCCTGCACCCGGGCCTCCTCCGCCTCCTCAGCCGCCCGCCGGGCCGCCTCCGCCTCGCCGCGCAGCTGGTCCAGCACGCTCTGCTCCTGCTGCAGCGTCTGCTGTAGCTCCTGCTCCTTCTGCTGCACCGCGAAGGCGTGTGCCTTCTCTTCCG | CCCCGGCGCATGGCCTCGTAGATGGACACCTTCTCCTTGGTGTCCTCCAGGTAGATGCCGGCGAGGCAGCCACTGCCCTGCAGCAGCGTCCGCACGGAGCCCAGCTCCGAAAGGTCCTTGACCGTCGTCTTGCCGTCCTTGAGCTGCTCAAACTGGGCTCTGCTGAGGACCCCGGAAGCCAGGAGCTCGCTGGCTGGCACAGGGGCACGGAGGCCGCTGAAGGACAGCCTCTCCTGCCGCAGGGTCTCCACCTCCTCCACGATGGTAATGAGAATCTTGATGACCTTCTCCACGGTGACCTTGCCCGTGCGGAACTGACGCAACAGCTCCTGCCGCTGCTCCGCAGTGAAGTACTCAGAGCTGATGAGCTCCCACACCGTCACCGTCCTGCCCTTGAAGCCACCCACGGGGACCTCAACCGGGGTCTTTTCAAAGGTCTCACGGGCCTGCAGCTCTGAGTAGAGCTCCTCCTGCCGGGCCCGAGCAGCCTTTTCTGAGAGCGGCAGCAGGCTCAGCCCGGTCAGCTGGTCGGGCCGGCACCGCTGCTGGAGCTCGCCGTAGGTGGCCGGCTCCCCTGTGCTGGGGTCACTGTAGGCCTTGGCGTCGGCCCTTGGTGCCGACAGGGCCCTGCTGGTCTCCTCATCCAGGCAGCCTCGGGCGCAGGCGACATCCAGGGGCACGCGGTGGCTCTTGCTGGGGTCCACGATGCCGCCCGTGGACAGCTGGGCGTCCAACAGGCGCAGGCCCTGCTCCCGGGGAATGAGGCCCTTCTTCAGGGCCTGGAACAGGGAGACGCTCTGCCCTGTGTAGGGGTCCCTGTACCCTGTCACAGCCTTCTCGGCTGATAGCAGCTTCTCATGAAACTCGGGGCCCACCAGGCCAGCACGCACTGCCTCGTCCACGGTCAGCCGGGCGCTGGTGGCGGGGTCGATGATGTGCCCGGTGCCGGCCTGGGCTTCCAACAGGGCCACGGCCATGTCGGATGGCAGCAGGTCTTTCTTCAGGGCATTGTAGATACTCAGCTTCTGCCCCGCCTCCTCCAGCCATACACCCGCGATGACGTTGGCACCCCGGAGAGCCCGCCGCACAGTGTCCACCTCGGCTACGTCTCGCACAGAGCGCTCACCTCGCTGCAGCTGCTGGTAGAGCTCGCGGTCGATGACCCTGCTCTCCAGCAGCTCGGCGGCTGGCACCAGGCTGCGCAGGCCCTCAAAGCAAAGCCGGCCCTTCTGCTCCTGCTCCTCCACCACCGTGATGATGATCTTGATGATCTTCTCCACTGTGATCCGGCCCGTGCGGAACTGCCGCAGCAGGTCCCGCCGCTGCTCTGCCGTGAAGTATTCCGAGTTGATGATCTCCCAAATGGTCACCGTCTTGCCCTGGAACTTGCCGAACGGCGCAGACACGGTGGCCTTCTCAAAGACGTCCCGGGCCTCGGAGTCAGTGTAGACCAGCTCCCCGCCCTTGGCAGCCTTATCCGTGAGTGGCAGAAGGCACAGGCCCGTCTCGGGGTCCTCCACGCAGCGCTCCAGTAGCTGCAGGTACGTGAGGTTCTCGTGCGTGTTGGGGTCAAAGAAGCCCTTGGTGTCGTCGCTGGGGTCCGCCAGGACGCGGTTCATCTCCTCGTCGAAGTAGCCGCGCCGGTAGGCCACGTCCACGGGCACGCGGTGGCTGTGCACGGGGTCGATAACGCCGCCCGTGGCGATCTGGGCCTCCAGCAGGCGGATGCCGTGCTCCCGGACGATGAGGCCCTTCTGCATGGCTTGGAAGAGAGAGATCTGCTGGCCAGTGTAGGGGTCCTTGTAGCCAGTGACGGCGCGCTCGGCCGACAGCAGCTTGTGGTGCAGCTCGGGGCCCACCACACCCTCCTTCACAGCCTCGTTGACGGTCAGCCGCCGGTTCCGCACAGGGTCCAGCAGGAAGCCTGAGGCCGCCTGCGCCTCCAGCAGGATGAGGGCCGTGCCGGGACTCAGCAGCTGCCTCTGCAGGGCGGCGTAAACACTCAGCTTCTCATTGGTGGCCTTCAGCAACAGCCCTGCGATACTGCTGCGGCCCGGCCCTGCAGGTAGTGGCGCACGTCTTCCCGCCGTGCGAGCTCGTCCACCGTGGTGTGGCCCTGCGCCAACCGCTGCAGCTCCTCCGCACTCAGGATGCCGGCCTCCTGCAGCCTCTGAGCTGACACCTTCCGCCGCAGGCCATCGAAGCTGTGCTCCGGCTCTGCCTCTGCCGCGGGGCCATCAAGTGCATCCCGGCCATTGGGCAGGGTCTTTGTGGCAGCCACCTGCGAGGCAGTGACCTCCTCTGAGTGCGCCAGCGCGGCCCGGTGCTGCTCCTCCAGGAGCTGCAGCTGCTCACGCAGCCTCTGGTTCTCCTCAGCCAGCAGCTCCTCCTGCTGCCGCCGCTGCTGCTCCAGCTGCTGCAGCTCCTCCTGCTTGCGCCGCACGCCCTCCTCGGCCTCATGCTGCCGCCGCCGCGCCTCCTCCATGCTGGCCACCAGCCGCTGCCGTTCCTGCTCCATCTGCTGCTGCTGCCGCTGCTGCTCCTCACGCAGCTGCTGTGCCTTGGCCACCTCGTCCTGGAAGAGCTGCTCCAGCTTGGCCTTCTCCTGCTCGATGAAGCGCTCCCGCTGTAGCAGGCTGTCCTTTTCAGAGAGGAAGCTTTGCTGCAGGGCCTGCGTCTCCTGCAGCAGCTGCTCCTGCTGCACCGTCTGCATCTGCAGAAGAAGAGGGTGTGATCAGGGACCGCCAGCCCAGGAGCACCCATCACCCACCAAAGCAGATCCCCGGGCCCACCCGCCCGTCGCACGTAGAGGGGGCGGTACCTCCTCAGACTTGAGCTGCAGCAGTTTGGCCTCCTGTTGGAGCTTCTCCTTCTCACGCTCCAGCTCAGCGATGGCCTCCCGCAGGCGCTCGGCATCATGGTCACTCTGCTGTCGCTGGATCTCCAGTGTCTGCACCAGGGTCACCTTCTCCTGGGTGGCGAGCTCCGTGCGGTGCAGCTTCTCACCGATCTCCTCCGCCTGCTTCCGGAAGCGCTGGGCGTCCTCCTCAGCGCGGGCCTGGGCTCGGCTCATCTCGGCCACACGCAGCTTGAGGCGCTCAGCCTCAGCGCTCATCTCCAGCTGCCGCTGCCGCTCGGCCTCCAGCGTCCGCTGGAAGCCCTGCGTCTCCTCCGCCAGCTGCTGCGCCATCTGCTCCTTGTCCTCCTGCAGCCGCCGCGCCTGCTCCTGCGCAAGCTCCTTCTGCTGCTGCAGCAGTTCCGCCTCAGCCTTGAGTCGCGTGGCCTCCTGCACCGCCTGCATCTTCTCCTTGAGCATCTTCTCTGCCAAGGCCCGCTGCTGTGCCAGGTCCTCCTCTGCCAGCTGCCGCAGTCGCGCAGCCTCTTGGGCCGCCACACTCAGCCGCGCGGCCTCCTCCGCCACCTGCTTCATCTTCTCAGCCTCCTCCTGCAGGAAGCGCTGCGTATTGTCCTTGTCACGCAAGATGAGTGCGCGGTTCTCAGCCTCGATGCGTGCCTTGAGCTTGCTCAGCTCCTCCATCTGCACGCGCACCGAGAAGAGCTCCTCCTCCACCTGGCTGCGCTGGCGTGCGGCCTCCGTGGCCTCCGCCTTCAGCCGCTGCAGCTCCTCGTCCAGCAGGTTCTTCTGGTGGTCGGTCTCCTCCAGCTGCAGCCGCAGTGTTGTCAGCTCCTGCTCCACCTGCGCCTTCTGCCGCAGCGTCTGCTCGGCGAATTTCTTATGCTTCTCCATCTCCGCGTCAGCTGCCTGCTTCTGCCGCAGGGCCGCCTGCTCCGCCTGTGCCCGCCGCGCCGCCTCTTGCTCGGCCTCCTTGCGCAGCTTCTCTGCAGCCGCCTGTGCCTGAGCCCGGGCCTGTGCCTGCTCCTCTGCCGACTGCTTCAGCCGCTCGGCCTCTTCCACCTGCCGCCGGGACTGCGCCGCCTCACGCTCCGCCTGCACCCGGGCCTCCTCCGCCTCCTCAGCCGCCCGCCGGGCCGCCTCCGCCTCGCCGCGCAGCTGGTCCAGCACGCTCTGCTCCTGCTGCAGCGTCTGCTGTAGCTCCTGCTCCTTCTGCTGCACCGCGAAGGCGTGTGCCTTCTC | pathogenic | 140,152 |
Gene PLEC (plectin) variant at chromosome position 143930545 on chromosome 8: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | TCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGTGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGACTATGACATAACACATTGGAAATAAATGCCAGAGGCCCTTAAGTCCAGGCCAGGAACAGGACAGACGAGAGGCAGGGTGCAGGATTCCTTACTGTGCCACTGAAAGTGGATCCACAGCTTCCCCACCTCACTCAGCAGCCGCTGCCCAGCTCCACTGTCTCTTCCCCACACCCGAATCTCATCACCAGGAAGTCCCCCGGCCGCCACTGTCGAAGCGTATCCAGCCCTGAACTCTTCTCACCACCTCTGCGGCCACCACCCCAGCTGGGCCTCCCGCCTCCTGGCCAGATCTCTGAACAGCCCCCAACTCGTTCCCTCCTGCACCCTCCTGCAAGGTCACAGCCCTCACCCCAGCACCCCCCAGCCGACCCCAGCCCCTCGCCTGTGGCCAGGTGCACTCACTTCTCCAGGTAGATGGCAGACAGGCTGCGGACCTGCTCCAGCTTGCCCAGCGTCAGCTCCAGCTCCGAGCGCAGCGTGGGGGCCGCAGGCGATGGCTCTGGTAGGGCCAAGACCTTCTCGGCCTCGGCAGAGAGCCGGGCGACCCCCTTGCCCAGCCCCTCCACCTCTGCCTGTGCCTTCTGCAAAGACAGGGAGTGGGAACGCACTCATCACCGAGCGCAGCACACAGCGCCCCTTGAAGGCCAAAGGAGGGAGGGTGGGAGGAGGGATGGGGAGAGGGATGGGACTGGATGGGGGGGGACGGCCCCTGCCTGCTGCTCGGCGATGCGCTGGGCACACTCCCGTGCCGGCTCTTTGTCCAGCGGCAGCCGCAGGCGGTGCACGGTGCGCGTCTCACAGGCCTCCAGCTGCAGCCGGATGTCTTTGAGCTCGGAGATGCAGCGCTGGCAGCGAGACTCTTCCTGTGCACCTGGGGAACACATGTGGGTCACTCCACCGCCCACCTCGCACCAGCCCAACCGCCCCAGCCCTGCCGTGCCCTACCCTGTTCCAGGCTCTGCAGCAGCTGCTGGTAGTGGTGGCTGCAGGAGCCGTACTCGCGCTCAGCCATCAGCCGGTCCTCGGGTCCGAAGCCGCCCGCGTCCTGGCTGTCCCGCAGGAAGGCCTGGTAGTGCAGCTCCAGGCTGTGCAGGGCTTGGCGCTGCTCCTCTGGCTTCAGGGTGCGGAACTGGGGGAAGCACGTGGGGCTGAGTGCCGGGCGAGGCGGCCGTGCCCTGCACAACGCCTCTCCCCTCCTCCCACCCAGAGAGCCCCCGGCTCGGGGGCAGGCGTACCGTGGCCAGGGACCAGGAGCGGATGAGCTGCACGTCGCGGCGAAGGCTCTGCCAGGCCAGAAGGCTCTTCATGTCCACGTGCAACTGGTGCCACAGCGTGACCAGGGCCTGGTGCTGGGCCTCCAGCCTGGCAGGTCAGGGCTACAGTCAGCGTCACCAGCGCCCCACCCGCCTTCCAGCCCCCACCTGCTGAGCCCCCGCCACCCACCTGGTGACGGCCTCCTGGGCCTCCTGGTTGGGCGGGGGCACCAGGAAGCACACGGAGGGCACGGCGGCCTCGCTGCCGGAGCTGCTGAGCACCTTCCAGTGGGACGGCTGTGCAGGGCCCACCAGCTGGCACTCGTCACCCTTGTGCACAGTCACCTGGGACGGGCAGAGTCGGTGAGGACATGGCCACACCCTGCCCTGCCTGGCCACGCCCCCCAGTGGACCCCCGGCCTGCGCTCACCTCCACCTGCTTATAGTCGCACACGGCCAGCAGGGGCAGGCGGCCCCGCATGGGGTGGGCTGGGTGGCGGGGCTTCAGCTGCACGACGGCCTTGGCCCGCTTGGCCAGGCCTGAGAGGTGGCCCTTGTACTCGTTCAGCTGTTCCTTCTCGTCCTGTGGGGGAGGGGCAGCATCCAGACGAGGGCCATGGAGACCCACAGGCCTGCCCCAGGCACCCCCAGACCCCGGGACCAGGCCTGTGGGGCCCTCCTGATGCTCCCGGGGTGGCAGCACTTGGAAGCAGGAGGTATAGCTGGGACAGGCCCCGGGGGTTGGCCCCAAGCAGACCCATGCACCCTCGCTCCTTCCCAACCCAGACAGGGCACCCTCCTCTCACCCCAGCTCACCCACCATGTCCTCCCAGCTACGCTCTGGTCCCTACAATGCCCTCGCCCCTTGCCCCTCCCCTGCGGGCTGCAGAAGGTACTGCCTCCTCCCATCCCACCCCTCTGCGGGGGCCAGGCCGCAGGACGGCACACACCTGGGAGCTGCCGGCTCTCCCCCCGGCCCAGCCCTGCCGACCTCAGAGGCCATTTCAGTCTCCAGTCCCTCTTCCCTGTCACTCCCCACTGTGCACCCGCCCTCCTGGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCC | TCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGTGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGGCGGCGGCCCTATCACTGTGCTGGTTCTGTGAGGAGTAGACAGCGGGTGGACCTGTGGTTTGCAACACAGGAAGAGACTATGACATAACACATTGGAAATAAATGCCAGAGGCCCTTAAGTCCAGGCCAGGAACAGGACAGACGAGAGGCAGGGTGCAGGATTCCTTACTGTGCCACTGAAAGTGGATCCACAGCTTCCCCACCTCACTCAGCAGCCGCTGCCCAGCTCCACTGTCTCTTCCCCACACCCGAATCTCATCACCAGGAAGTCCCCCGGCCGCCACTGTCGAAGCGTATCCAGCCCTGAACTCTTCTCACCACCTCTGCGGCCACCACCCCAGCTGGGCCTCCCGCCTCCTGGCCAGATCTCTGAACAGCCCCCAACTCGTTCCCTCCTGCACCCTCCTGCAAGGTCACAGCCCTCACCCCAGCACCCCCCAGCCGACCCCAGCCCCTCGCCTGTGGCCAGGTGCACTCACTTCTCCAGGTAGATGGCAGACAGGCTGCGGACCTGCTCCAGCTTGCCCAGCGTCAGCTCCAGCTCCGAGCGCAGCGTGGGGGCCGCAGGCGATGGCTCTGGTAGGGCCAAGACCTTCTCGGCCTCGGCAGAGAGCCGGGCGACCCCCTTGCCCAGCCCCTCCACCTCTGCCTGTGCCTTCTGCAAAGACAGGGAGTGGGAACGCACTCATCACCGAGCGCAGCACACAGCGCCCCTTGAAGGCCAAAGGAGGGAGGGTGGGAGGAGGGATGGGGAGAGGGATGGGACTGGATGGGGGGGGACGGCCCCTGCCTGCTGCTCGGCGATGCGCTGGGCACACTCCCGTGCCGGCTCTTTGTCCAGCGGCAGCCGCAGGCGGTGCACGGTGCGCGTCTCACAGGCCTCCAGCTGCAGCCGGATGTCTTTGAGCTCGGAGATGCAGCGCTGGCAGCGAGACTCTTCCTGTGCACCTGGGGAACACATGTGGGTCACTCCACCGCCCACCTCGCACCAGCCCAACCGCCCCAGCCCTGCCGTGCCCTACCCTGTTCCAGGCTCTGCAGCAGCTGCTGGTAGTGGTGGCTGCAGGAGCCGTACTCGCGCTCAGCCATCAGCCGGTCCTCGGGTCCGAAGCCGCCCGCGTCCTGGCTGTCCCGCAGGAAGGCCTGGTAGTGCAGCTCCAGGCTGTGCAGGGCTTGGCGCTGCTCCTCTGGCTTCAGGGTGCGGAACTGGGGGAAGCACGTGGGGCTGAGTGCCGGGCGAGGCGGCCGTGCCCTGCACAACGCCTCTCCCCTCCTCCCACCCAGAGAGCCCCCGGCTCGGGGGCAGGCGTACCGTGGCCAGGGACCAGGAGCGGATGAGCTGCACGTCGCGGCGAAGGCTCTGCCAGGCCAGAAGGCTCTTCATGTCCACGTGCAACTGGTGCCACAGCGTGACCAGGGCCTGGTGCTGGGCCTCCAGCCTGGCAGGTCAGGGCTACAGTCAGCGTCACCAGCGCCCCACCCGCCTTCCAGCCCCCACCTGCTGAGCCCCCGCCACCCACCTGGTGACGGCCTCCTGGGCCTCCTGGTTGGGCGGGGGCACCAGGAAGCACACGGAGGGCACGGCGGCCTCGCTGCCGGAGCTGCTGAGCACCTTCCAGTGGGACGGCTGTGCAGGGCCCACCAGCTGGCACTCGTCACCCTTGTGCACAGTCACCTGGGACGGGCAGAGTCGGTGAGGACATGGCCACACCCTGCCCTGCCTGGCCACGCCCCCCAGTGGACCCCCGGCCTGCGCTCACCTCCACCTGCTTATAGTCGCACACGGCCAGCAGGGGCAGGCGGCCCCGCATGGGGTGGGCTGGGTGGCGGGGCTTCAGCTGCACGACGGCCTTGGCCCGCTTGGCCAGGCCTGAGAGGTGGCCCTTGTACTCGTTCAGCTGTTCCTTCTCGTCCTGTGGGGGGGGGCAGCATCCAGACGAGGGCCATGGAGACCCACAGGCCTGCCCCAGGCACCCCCAGACCCCGGGACCAGGCCTGTGGGGCCCTCCTGATGCTCCCGGGGTGGCAGCACTTGGAAGCAGGAGGTATAGCTGGGACAGGCCCCGGGGGTTGGCCCCAAGCAGACCCATGCACCCTCGCTCCTTCCCAACCCAGACAGGGCACCCTCCTCTCACCCCAGCTCACCCACCATGTCCTCCCAGCTACGCTCTGGTCCCTACAATGCCCTCGCCCCTTGCCCCTCCCCTGCGGGCTGCAGAAGGTACTGCCTCCTCCCATCCCACCCCTCTGCGGGGGCCAGGCCGCAGGACGGCACACACCTGGGAGCTGCCGGCTCTCCCCCCGGCCCAGCCCTGCCGACCTCAGAGGCCATTTCAGTCTCCAGTCCCTCTTCCCTGTCACTCCCCACTGTGCACCCGCCCTCCTGGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCN | benign | 140,354 |
Determine whether the variant at chromosome 8, position 143931520, in gene PLEC (plectin) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | CGCAGGCGGTGCACGGTGCGCGTCTCACAGGCCTCCAGCTGCAGCCGGATGTCTTTGAGCTCGGAGATGCAGCGCTGGCAGCGAGACTCTTCCTGTGCACCTGGGGAACACATGTGGGTCACTCCACCGCCCACCTCGCACCAGCCCAACCGCCCCAGCCCTGCCGTGCCCTACCCTGTTCCAGGCTCTGCAGCAGCTGCTGGTAGTGGTGGCTGCAGGAGCCGTACTCGCGCTCAGCCATCAGCCGGTCCTCGGGTCCGAAGCCGCCCGCGTCCTGGCTGTCCCGCAGGAAGGCCTGGTAGTGCAGCTCCAGGCTGTGCAGGGCTTGGCGCTGCTCCTCTGGCTTCAGGGTGCGGAACTGGGGGAAGCACGTGGGGCTGAGTGCCGGGCGAGGCGGCCGTGCCCTGCACAACGCCTCTCCCCTCCTCCCACCCAGAGAGCCCCCGGCTCGGGGGCAGGCGTACCGTGGCCAGGGACCAGGAGCGGATGAGCTGCACGTCGCGGCGAAGGCTCTGCCAGGCCAGAAGGCTCTTCATGTCCACGTGCAACTGGTGCCACAGCGTGACCAGGGCCTGGTGCTGGGCCTCCAGCCTGGCAGGTCAGGGCTACAGTCAGCGTCACCAGCGCCCCACCCGCCTTCCAGCCCCCACCTGCTGAGCCCCCGCCACCCACCTGGTGACGGCCTCCTGGGCCTCCTGGTTGGGCGGGGGCACCAGGAAGCACACGGAGGGCACGGCGGCCTCGCTGCCGGAGCTGCTGAGCACCTTCCAGTGGGACGGCTGTGCAGGGCCCACCAGCTGGCACTCGTCACCCTTGTGCACAGTCACCTGGGACGGGCAGAGTCGGTGAGGACATGGCCACACCCTGCCCTGCCTGGCCACGCCCCCCAGTGGACCCCCGGCCTGCGCTCACCTCCACCTGCTTATAGTCGCACACGGCCAGCAGGGGCAGGCGGCCCCGCATGGGGTGGGCTGGGTGGCGGGGCTTCAGCTGCACGACGGCCTTGGCCCGCTTGGCCAGGCCTGAGAGGTGGCCCTTGTACTCGTTCAGCTGTTCCTTCTCGTCCTGTGGGGGAGGGGCAGCATCCAGACGAGGGCCATGGAGACCCACAGGCCTGCCCCAGGCACCCCCAGACCCCGGGACCAGGCCTGTGGGGCCCTCCTGATGCTCCCGGGGTGGCAGCACTTGGAAGCAGGAGGTATAGCTGGGACAGGCCCCGGGGGTTGGCCCCAAGCAGACCCATGCACCCTCGCTCCTTCCCAACCCAGACAGGGCACCCTCCTCTCACCCCAGCTCACCCACCATGTCCTCCCAGCTACGCTCTGGTCCCTACAATGCCCTCGCCCCTTGCCCCTCCCCTGCGGGCTGCAGAAGGTACTGCCTCCTCCCATCCCACCCCTCTGCGGGGGCCAGGCCGCAGGACGGCACACACCTGGGAGCTGCCGGCTCTCCCCCCGGCCCAGCCCTGCCGACCTCAGAGGCCATTTCAGTCTCCAGTCCCTCTTCCCTGTCACTCCCCACTGTGCACCCGCCCTCCTGGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAG | CGCAGGCGGTGCACGGTGCGCGTCTCACAGGCCTCCAGCTGCAGCCGGATGTCTTTGAGCTCGGAGATGCAGCGCTGGCAGCGAGACTCTTCCTGTGCACCTGGGGAACACATGTGGGTCACTCCACCGCCCACCTCGCACCAGCCCAACCGCCCCAGCCCTGCCGTGCCCTACCCTGTTCCAGGCTCTGCAGCAGCTGCTGGTAGTGGTGGCTGCAGGAGCCGTACTCGCGCTCAGCCATCAGCCGGTCCTCGGGTCCGAAGCCGCCCGCGTCCTGGCTGTCCCGCAGGAAGGCCTGGTAGTGCAGCTCCAGGCTGTGCAGGGCTTGGCGCTGCTCCTCTGGCTTCAGGGTGCGGAACTGGGGGAAGCACGTGGGGCTGAGTGCCGGGCGAGGCGGCCGTGCCCTGCACAACGCCTCTCCCCTCCTCCCACCCAGAGAGCCCCCGGCTCGGGGGCAGGCGTACCGTGGCCAGGGACCAGGAGCGGATGAGCTGCACGTCGCGGCGAAGGCTCTGCCAGGCCAGAAGGCTCTTCATGTCCACGTGCAACTGGTGCCACAGCGTGACCAGGGCCTGGTGCTGGGCCTCCAGCCTGGCAGGTCAGGGCTACAGTCAGCGTCACCAGCGCCCCACCCGCCTTCCAGCCCCCACCTGCTGAGCCCCCGCCACCCACCTGGTGACGGCCTCCTGGGCCTCCTGGTTGGGCGGGGGCACCAGGAAGCACACGGAGGGCACGGCGGCCTCGCTGCCGGAGCTGCTGAGCACCTTCCAGTGGGACGGCTGTGCAGGGCCCACCAGCTGGCACTCGTCACCCTTGTGCACAGTCACCTGGGACGGGCAGAGTCGGTGAGGACATGGCCACACCCTGCCCTGCCTGGCCACGCCCCCCAGTGGACCCCCGGCCTGCGCTCACCTCCACCTGCTTATAGTCGCACACGGCCAGCAGGGGCAGGCGGCCCCGCATGGGGTGGGCTGGGTGGCGGGGCTTCAGCTGCACGACGGCCTTGGCCCGCTTGGCCAGGCCTGAGAGGTGGCCCTTGTACTCGTTCAGCTGTTCCTTCTCGTCCTGTGGGGGAGGGGCAGCATCCAGACGAGGGCCATGGAGACCCACAGGCCTGCCCCAGGCACCCCCAGACCCCGGGACCAGGCCTGTGGGGCCCTCCTGATGCTCCCGGGGTGGCAGCACTTGGAAGCAGGAGGTATAGCTGGGACAGGCCCCGGGGGTTGGCCCCAAGCAGACCCATGCACCCTCGCTCCTTCCCAACCCAGACAGGGCACCCTCCTCTCACCCCAGCTCACCCACCATGTCCTCCCAGCTACGCTCTGGTCCCTACAATGCCCTCGCCCCTTGCCCCTCCCCTGCGGGCTGCAGAAGGTACTGCCTCCTCCCATCCCACCCCTCTGCGGGGGCCAGGCCGCAGGACGGCACACACCTGGGAGCTGCCGGCTCTCCCCCCGGCCCAGCCCTGCCGACCTCAGAGGCCATTTCAGTCTCCAGTCCCTCTTCCCTGTCACTCCCCACTGTGCACCCGCCCTCCTGGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAA | benign | 140,357 |
Variant on chromosome 8, at position 143932616, affecting PLEC (plectin): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | CCATGGAGACCCACAGGCCTGCCCCAGGCACCCCCAGACCCCGGGACCAGGCCTGTGGGGCCCTCCTGATGCTCCCGGGGTGGCAGCACTTGGAAGCAGGAGGTATAGCTGGGACAGGCCCCGGGGGTTGGCCCCAAGCAGACCCATGCACCCTCGCTCCTTCCCAACCCAGACAGGGCACCCTCCTCTCACCCCAGCTCACCCACCATGTCCTCCCAGCTACGCTCTGGTCCCTACAATGCCCTCGCCCCTTGCCCCTCCCCTGCGGGCTGCAGAAGGTACTGCCTCCTCCCATCCCACCCCTCTGCGGGGGCCAGGCCGCAGGACGGCACACACCTGGGAGCTGCCGGCTCTCCCCCCGGCCCAGCCCTGCCGACCTCAGAGGCCATTTCAGTCTCCAGTCCCTCTTCCCTGTCACTCCCCACTGTGCACCCGCCCTCCTGGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACC | CCATGGAGACCCACAGGCCTGCCCCAGGCACCCCCAGACCCCGGGACCAGGCCTGTGGGGCCCTCCTGATGCTCCCGGGGTGGCAGCACTTGGAAGCAGGAGGTATAGCTGGGACAGGCCCCGGGGGTTGGCCCCAAGCAGACCCATGCACCCTCGCTCCTTCCCAACCCAGACAGGGCACCCTCCTCTCACCCCAGCTCACCCACCATGTCCTCCCAGCTACGCTCTGGTCCCTACAATGCCCTCGCCCCTTGCCCCTCCCCTGCGGGCTGCAGAAGGTACTGCCTCCTCCCATCCCACCCCTCTGCGGGGGCCAGGCCGCAGGACGGCACACACCTGGGAGCTGCCGGCTCTCCCCCCGGCCCAGCCCTGCCGACCTCAGAGGCCATTTCAGTCTCCAGTCCCTCTTCCCTGTCACTCCCCACTGTGCACCCGCCCTCCTGGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCN | benign | 140,366 |
Evaluate the clinical significance of the mutation at chromosome 8, position 143933058 in gene PLEC (plectin): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Autosomal_recessive_limb-girdle_muscular_dystrophy_type_2Q', 'Epidermolysis_bullosa_simplex,_Ogna_type', 'Epidermolysis_bullosa_simplex_5B,_with_muscular_dystrophy', 'Epidermolysis_bullosa_simplex_5C,_with_pyloric_atresia', 'Epidermolysis_bullosa_simplex_with_nail_dystrophy'] | GGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCTGTTCTTGTCGGCCTCCTTGGCTGGTAGCTCCATCTCCTTAAACTTCAGGAACTGAGACCACAGGATCTGCCAGGGACGAGGCTGTCGGCAACCACGCCGGGCTCTCAGGGCAGGCCCAGGACCCCGCCCCCCACGGCAGGCCCACCTCAATCTCCTCGAAGCTGGAGGGGAACCTGCGTTCCTCAAAGGCGGCCGTGTGGTGTCGCATCCACTGAAGCAGCAGCAGCACCAGCTCCCGGTACTCCTGCCAGCGCAGCTGCAGCTCCTGCGGGCAGGCACGGGCGGCTGTCAGGGGTCGTCGGGGCGTCCAGGCCCAAGCCCCCTGCCCTCCGGGCCCCCCACTCACGTTGGCCCTCACCCCATCCTGCACGTCCGGCACGCGGGGCATGGCGTCATACAGCGACGAGACGTAGGTGATGATGGACTTCTCGTCGGGCTGAG | GGGTGATCCCACCCCTGCTCCCAGAGCACAAAGCCCAGTTCCACTCTGCCCGCTCCAGATCTCAGGCCAAACAGCTGGTGCCCCTTCTATAGTACAAGGGCTGGCAGTGCTCCTTCTATAGCACAAGGGCTGGCGGTGCCCCTTCTACAGCACAAGGGCTGGCGGCAGCTGCTGACTTCAGGCTTCCACTCACTCTGTGGCTATGGAGATGGGGGCGGCCCGGCTTGGACCGGCTGCCTCTCGGCTCCCCACATCCTGCCTCATTCCCCCCTTGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCATGCAGCCCAGAACATCCTGCCTCATTCCCGCTTCGGCTGACCTCTACACCTCCCATGGTGCCTCCCAACTCCTGCTGGCCCCTCCAGTTGCCCCCTAGTCTCCAGAGTACCCGTGCAGCCCAGACTCCAGGCCAGCCCCTCCTGACACGCCCCTGCACACCCCCTCCCTCACCTGGGCATCCTGCAGCAGGTCCTCCAGCCGGGTGACGGTGGCGGAGCGATCACAACTGTATTTCCTACGCAGTGCCTCCTGCAGCTTCTGCAACTGCCCCTCGGCCTCCCGCACATCTGAGAAGAACTGGGGCAGCGGGAGGGGGTCACGCCAGGCTACCTGGGACCAGAGCCCCAGCCCACAGTTGTCCCAGGGCAGGCCCAAGACGGGGGCACTGAGGAAGGAGTGGCAAAGCCCCCAGGAGGCCTGGGGAGCACCCCTGTCCAAGGCCCCGGTCAGGCTGCAGGCAGCAGCTGGCAACGTCTGCAGACAGGAGGGCTCCTGATTGGAGCTGCCGAGGGGGTCCAGGGGCTCCTGCAAGGCTGCCGCTGAGCCACAGTGCGGAGGGGGCTCCGGTTCTCACCTGAAAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCTGTTCTTGTCGGCCTCCTTGGCTGGTAGCTCCATCTCCTTAAACTTCAGGAACTGAGACCACAGGATCTGCCAGGGACGAGGCTGTCGGCAACCACGCCGGGCTCTCAGGGCAGGCCCAGGACCCCGCCCCCCACGGCAGGCCCACCTCAATCTCCTCGAAGCTGGAGGGGAACCTGCGTTCCTCAAAGGCGGCCGTGTGGTGTCGCATCCACTGAAGCAGCAGCAGCACCAGCTCCCGGTACTCCTGCCAGCGCAGCTGCAGCTCCTGCGGGCAGGCACGGGCGGCTGTCAGGGGTCGTCGGGGCGTCCAGGCCCAAGCCCCCTGCCCTCCGGGCCCCCCACTCACGTTGGCCCTCACCCCATCCTGCACGTCCGGCACGCGGGGCATGGCGTCATACAGCGACGAGACGTAGGTGATGATGGACTTCTCGTCGGGCTGAGNNNNNNN | pathogenic | 140,376 |
Variant chromosome 8, position 143933989, gene PLEC: benign or pathogenic? Disease(s)? | benign | AAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCTGTTCTTGTCGGCCTCCTTGGCTGGTAGCTCCATCTCCTTAAACTTCAGGAACTGAGACCACAGGATCTGCCAGGGACGAGGCTGTCGGCAACCACGCCGGGCTCTCAGGGCAGGCCCAGGACCCCGCCCCCCACGGCAGGCCCACCTCAATCTCCTCGAAGCTGGAGGGGAACCTGCGTTCCTCAAAGGCGGCCGTGTGGTGTCGCATCCACTGAAGCAGCAGCAGCACCAGCTCCCGGTACTCCTGCCAGCGCAGCTGCAGCTCCTGCGGGCAGGCACGGGCGGCTGTCAGGGGTCGTCGGGGCGTCCAGGCCCAAGCCCCCTGCCCTCCGGGCCCCCCACTCACGTTGGCCCTCACCCCATCCTGCACGTCCGGCACGCGGGGCATGGCGTCATACAGCGACGAGACGTAGGTGATGATGGACTTCTCGTCGGGCTGAGGGACATCCACGTCTGCAGGGAAGGGCAGCTCAGCGGTGGCTCTGGGGCAGGCAGCAGGGGAAGGGACAGGGAGGAAGGCCACGCAGACGTACCCTCAGGGTCCAGGAGCCGCGTCACTCCCAGGTCCCGCTCCGCCACAGAGAAGGCCTGGTCCAGGTTCTCCAGGTTGGTCTGCCGGTACACCTTGTTCATGTCGATGAGCAGGGGCCTGGGACAAGCAGGTGGCTGGTCAGGTGGGTGGGACAAGACCAGCGGCCACACCACACAGGCGGGTGCACAGGCCGGCTCCTCACACATCCCAGCAACCATGGACCCCCCCAACACTCACCCTGAAAAATACACTGTCACATGGGCAGAGCTGAGAGCACCCTGCCACCCCCACACCCAGAAGCCCAGGGGCACAGCACAGAGGACTGCGCAGAGCTGAGGGTGCCAGGCAGCTGGGGTTCCCTGCAGCCACCCTCCCCACCAGGCCCCTCCGGAGGCGTCCACAGAGGGCACATGCACCTGGCTGTGAGGACCAGCAGCCCGCGGGCCCTCCAGTCTTGAGATCAAGTGGTGGTGCTTCTGAAGGACACCAGGGTGGGGCTGGGCCCTGAACTCCACCACCCCGAGGCGGCCAGCTGGCACTCATCCCTGTTCCTCCTGCCCTCCTCCCTGCCCCAACGTGTCTGAAGTTGCCTAGTGGAGGCGCTGTGGGGGTGCCCCCAGCCCACAGCCCCCTGCCCCCGGGGCCATGTACTTGTGCCGGTGGATGATGGCATTGAAGAGGCGGCCGTCTCTCCAGCTGGAGGTGAAGTTGTCGCATCGCAGGCCCTGGTACCCCTCCACCATTCGCTGCGACCACAGCAGCAGCTTCTCCTTGGCCGTCATGTCCTCCGACTGCCCACTCACCTGGATATCTGAGATCTGCTCACAGCAGAGAGGAGGC | AAGTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACTGCTGCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCTGTTCTTGTCGGCCTCCTTGGCTGGTAGCTCCATCTCCTTAAACTTCAGGAACTGAGACCACAGGATCTGCCAGGGACGAGGCTGTCGGCAACCACGCCGGGCTCTCAGGGCAGGCCCAGGACCCCGCCCCCCACGGCAGGCCCACCTCAATCTCCTCGAAGCTGGAGGGGAACCTGCGTTCCTCAAAGGCGGCCGTGTGGTGTCGCATCCACTGAAGCAGCAGCAGCACCAGCTCCCGGTACTCCTGCCAGCGCAGCTGCAGCTCCTGCGGGCAGGCACGGGCGGCTGTCAGGGGTCGTCGGGGCGTCCAGGCCCAAGCCCCCTGCCCTCCGGGCCCCCCACTCACGTTGGCCCTCACCCCATCCTGCACGTCCGGCACGCGGGGCATGGCGTCATACAGCGACGAGACGTAGGTGATGATGGACTTCTCGTCGGGCTGAGGGACATCCACGTCTGCAGGGAAGGGCAGCTCAGCGGTGGCTCTGGGGCAGGCAGCAGGGGAAGGGACAGGGAGGAAGGCCACGCAGACGTACCCTCAGGGTCCAGGAGCCGCGTCACTCCCAGGTCCCGCTCCGCCACAGAGAAGGCCTGGTCCAGGTTCTCCAGGTTGGTCTGCCGGTACACCTTGTTCATGTCGATGAGCAGGGGCCTGGGACAAGCAGGTGGCTGGTCAGGTGGGTGGGACAAGACCAGCGGCCACACCACACAGGCGGGTGCACAGGCCGGCTCCTCACACATCCCAGCAACCATGGACCCCCCCAACACTCACCCTGAAAAATACACTGTCACATGGGCAGAGCTGAGAGCACCCTGCCACCCCCACACCCAGAAGCCCAGGGGCACAGCACAGAGGACTGCGCAGAGCTGAGGGTGCCAGGCAGCTGGGGTTCCCTGCAGCCACCCTCCCCACCAGGCCCCTCCGGAGGCGTCCACAGAGGGCACATGCACCTGGCTGTGAGGACCAGCAGCCCGCGGGCCCTCCAGTCTTGAGATCAAGTGGTGGTGCTTCTGAAGGACACCAGGGTGGGGCTGGGCCCTGAACTCCACCACCCCGAGGCGGCCAGCTGGCACTCATCCCTGTTCCTCCTGCCCTCCTCCCTGCCCCAACGTGTCTGAAGTTGCCTAGTGGAGGCGCTGTGGGGGTGCCCCCAGCCCACAGCCCCCTGCCCCCGGGGCCATGTACTTGTGCCGGTGGATGATGGCATTGAAGAGGCGGCCGTCTCTCCAGCTGGAGGTGAAGTTGTCGCATCGCAGGCCCTGGTACCCCTCCACCATTCGCTGCGACCACAGCAGCAGCTTCTCCTTGGCCGTCATGTCCTCCGACTGCCCACTCACCTGGATATCTGAGATCTGCTCACAGCAGAGAG | benign | 140,381 |
Evaluate this variant at chromosome 8, position 143933991, gene PLEC: benign or pathogenic? If pathogenic, what are the disease connection(s)? | benign | GTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCTGTTCTTGTCGGCCTCCTTGGCTGGTAGCTCCATCTCCTTAAACTTCAGGAACTGAGACCACAGGATCTGCCAGGGACGAGGCTGTCGGCAACCACGCCGGGCTCTCAGGGCAGGCCCAGGACCCCGCCCCCCACGGCAGGCCCACCTCAATCTCCTCGAAGCTGGAGGGGAACCTGCGTTCCTCAAAGGCGGCCGTGTGGTGTCGCATCCACTGAAGCAGCAGCAGCACCAGCTCCCGGTACTCCTGCCAGCGCAGCTGCAGCTCCTGCGGGCAGGCACGGGCGGCTGTCAGGGGTCGTCGGGGCGTCCAGGCCCAAGCCCCCTGCCCTCCGGGCCCCCCACTCACGTTGGCCCTCACCCCATCCTGCACGTCCGGCACGCGGGGCATGGCGTCATACAGCGACGAGACGTAGGTGATGATGGACTTCTCGTCGGGCTGAGGGACATCCACGTCTGCAGGGAAGGGCAGCTCAGCGGTGGCTCTGGGGCAGGCAGCAGGGGAAGGGACAGGGAGGAAGGCCACGCAGACGTACCCTCAGGGTCCAGGAGCCGCGTCACTCCCAGGTCCCGCTCCGCCACAGAGAAGGCCTGGTCCAGGTTCTCCAGGTTGGTCTGCCGGTACACCTTGTTCATGTCGATGAGCAGGGGCCTGGGACAAGCAGGTGGCTGGTCAGGTGGGTGGGACAAGACCAGCGGCCACACCACACAGGCGGGTGCACAGGCCGGCTCCTCACACATCCCAGCAACCATGGACCCCCCCAACACTCACCCTGAAAAATACACTGTCACATGGGCAGAGCTGAGAGCACCCTGCCACCCCCACACCCAGAAGCCCAGGGGCACAGCACAGAGGACTGCGCAGAGCTGAGGGTGCCAGGCAGCTGGGGTTCCCTGCAGCCACCCTCCCCACCAGGCCCCTCCGGAGGCGTCCACAGAGGGCACATGCACCTGGCTGTGAGGACCAGCAGCCCGCGGGCCCTCCAGTCTTGAGATCAAGTGGTGGTGCTTCTGAAGGACACCAGGGTGGGGCTGGGCCCTGAACTCCACCACCCCGAGGCGGCCAGCTGGCACTCATCCCTGTTCCTCCTGCCCTCCTCCCTGCCCCAACGTGTCTGAAGTTGCCTAGTGGAGGCGCTGTGGGGGTGCCCCCAGCCCACAGCCCCCTGCCCCCGGGGCCATGTACTTGTGCCGGTGGATGATGGCATTGAAGAGGCGGCCGTCTCTCCAGCTGGAGGTGAAGTTGTCGCATCGCAGGCCCTGGTACCCCTCCACCATTCGCTGCGACCACAGCAGCAGCTTCTCCTTGGCCGTCATGTCCTCCGACTGCCCACTCACCTGGATATCTGAGATCTGCTCACAGCAGAGAGGAGGCCA | GTAGGCAGCGTTCTCCTTCAGGTGTGCCTCGATACAGCAGCACAGCTGTAGCATCCAGCTCCACTGCGTCTGCAGGGCCGCCTGGAAGGACTGCGGGACAGCAGGTCCCGGTCAGGCCCCGCCCCGCCCCGCCTGGGGACCCGGCACGGCCCCCCCCGCAGCCCCGCCCCTACCCAGGGAGCCCCACCTCCACCGTGGGCCGGGCCGGGTGGTCCTCCCGCAGCAGCCGGTCCCCAGCATTTTGGAGCTCCTTGATCTTCTTCTCCTTCAGCTCCAGCTCCCGCATCAGCGCCTGGCACCAGAGCAAAGGGTCTCAGGGACGGCCGGCCACACCCGGCTCTGCCACGCTCCCAGCAAACTCGACCCAGGGCCCCCACTGGTCTCTGACCATAGGGGACGGCCAGGGCACAGCTGGGGAGGGGGCTGTGGGGTTCAGGGCAGCTGGGCCACCGCTCACCGAGTAGCTCTCCTTCTTGGCGGTCATGTTGGTGTTGCGGTCGCTCCAGTCGAAGCCCACCTCCTCCTCCTCCTTCTCATTCAGCCACATTAGCTCCTTAGTGGCGGCTGCCACAAAGCTGTGCAAGCTCTCCAGGGACCTGAGGCGGGCCTTGGAGGAGTTCTGTGGGCAGGAGGGTGCGTGTCAGCAGGCCGCGGGCTACCCACCTCCCCCGGCTGGCCCTGCCCCCACTCACCAGCAGCTTGGCGTACTGCAGGTCCAGCCGACCCAGGCAGTCACGGTAGGCACCCCGGGTGGCGGGGGAGAGCTGGCCCTGCAACAGATGAGACGGTGAGGTCTGCAGTGGCTGGGCCCGGCCCACCCCCGCACTGCCCATCGCTCAGCGCCACCCACCTCGTCACTCCGTGCCCGCTCGATCTTGGCCCGGAATTCTTCGATGGACTGGTGCAGGCCTCGGTGGCTGCCCAGCTGCGCCTCCACGCTGGGCAGGTCCACACCCCACTCAGCGCCATCCACACGGTGCTGGTTCTCCTCCACCCAGGCCAGCAGGTCCTGCAGGTAGCGCAGAGTGGAGTCCTCCAGCTCGGGGCGCCTCTGCACACTCTGCAGAGTCACCTGGGCCACCTGGGTTGCAGGGGCCGCCACGCCTGCCTTCAGCCGTAGGTTGTACTCGGTGCGGATGGCTACCAGGCGCTCGTGCAGACGGTACACCCTGGGGCAGCAGAGGACTCAGGTAGGTGTTGGCGGGCCTGGGGCCGTGTGTACCTGGGCTTCAGGGAGGGCAGGGCGGGGCCCACCTGCGGTACATCTGCTCGCCCTGCGGGTGCCGTCCATCCTTGAGGGTCTGCACGTCGTTGAAGAGCAGCCGGATCATGCTATCCGCCTTGTCCAAGTCCCGTTCCACCTCCCCCGCCCGCTGTGGCACTTTGCCTGCAGCCAGCAGCCGGACATCCTGCAAGGTCGTTGCCATGACTCGGAGCACAGCTGATCCCCCTCTGACCTCACAGGGGCCCCGGCCAAGACGGCCACCCTCAGCCGCTTCCTCAGCCTCAGTGGGCCACTGCCTCCATCCCTGTCCTTCCCCTTCCCTCCCTGCCCACCTCACACATCTTCCTACTGGCCTTCTGGGGGATTGGGACCAAGTCCAGAGTACTTAGCCCAGTCCAAGAACCGAGACCCCCATGACCATGTCTGTGGGGTCCTGGGCCTCATCCTCCATCACCCACCCTGGGTAACTCCTCCTGTAATGCCACGTGGGCCCTGTCCTCCTGGGCAATCAGCAGTGGGTTGGGCCCTCCCCCAACCCCTCCCCTAACAGTAAGCCGCTGTCGGGGAGGGGGCCTGGCGGGGGCAAGGCAGCCCAGCGTGGGTTCTGCCCCGTGGCCAGAAACCAACTCTGCCCAAAGCAGGCAGTGAGAGTTAGCTGCACACGAGGAGGGAGGAGCTCAGGCCTGGATTCCCCACCACATGCCCCGCCCCTGCCCCTGCCCCTGCCCCAGGAGCCCAGGGGGACAGCCCCCTCCTGGCTTTAGGGCTGCAGGGCGGGGCAGGCTCCTCCGGCCTCCCTCCCGCCCACTGCCTGCCCCACACCCTCACCGACTGCCTCACCGACTGCAGCAGGGCGTCGGCCTGGTTCAGCTGCTCCTCACACAGCCCCGCCTCCATCTGCAGCTTGGTCACGATGCGCTGAAGACACTCCAGCCTGCAGCAGCAGCACAGGGAAGGGGCCGCGTTGGCCGGGTCCGGCACAGCCCTGGCCACAGACTGCAGCTCGCCTCCCGCTCCGGTCTCCCTGGCTGTGGCCCACTGTCCTAAGGCGAGTGGGAGCTTGGGTTCCCCCGCCGGGGGCGGGGCGGGGAGGGGGGTTTCCTTCCCAGGCAGTGACACACCCTCGGGTGGTTCCCCTGCCACCACAGGGCCCCACCCACCTCTCAAACTCGCTGCGGAGCTGCTTCTCCCGCTCCAGGATGGCCACGTGCAGCTTGCCCCACTCCTTCTCCACATCCAGCGGGTGGTAGCCAGGGGGCACCTTGAGCTGGCCTGCTTGCACCGCTCCCTGTAGACAGGGGCCACACTCAGGCCCTATAGGCAGGGGGCAGGGGGTGGGGCGCTGGGCCTTCAGACCCCAGCCCACCAGACCTGGGACAGCCCTGGTCCCAAAGGCAGGGCCAGGTCGGCTCCGGAAGAACCTTTCAGGCCTGGGGCGTTCCAGGACACCACCCACCCCTCCAGCGGTCCCACTCACCTCCAGGGATTGGTAGATGCCCTTGGACCTGTTCTTGTCGGCCTCCTTGGCTGGTAGCTCCATCTCCTTAAACTTCAGGAACTGAGACCACAGGATCTGCCAGGGACGAGGCTGTCGGCAACCACGCCGGGCTCTCAGGGCAGGCCCAGGACCCCGCCCCCCACGGCAGGCCCACCTCAATCTCCTCGAAGCTGGAGGGGAACCTGCGTTCCTCAAAGGCGGCCGTGTGGTGTCGCATCCACTGAAGCAGCAGCAGCACCAGCTCCCGGTACTCCTGCCAGCGCAGCTGCAGCTCCTGCGGGCAGGCACGGGCGGCTGTCAGGGGTCGTCGGGGCGTCCAGGCCCAAGCCCCCTGCCCTCCGGGCCCCCCACTCACGTTGGCCCTCACCCCATCCTGCACGTCCGGCACGCGGGGCATGGCGTCATACAGCGACGAGACGTAGGTGATGATGGACTTCTCGTCGGGCTGAGGGACATCCACGTCTGCAGGGAAGGGCAGCTCAGCGGTGGCTCTGGGGCAGGCAGCAGGGGAAGGGACAGGGAGGAAGGCCACGCAGACGTACCCTCAGGGTCCAGGAGCCGCGTCACTCCCAGGTCCCGCTCCGCCACAGAGAAGGCCTGGTCCAGGTTCTCCAGGTTGGTCTGCCGGTACACCTTGTTCATGTCGATGAGCAGGGGCCTGGGACAAGCAGGTGGCTGGTCAGGTGGGTGGGACAAGACCAGCGGCCACACCACACAGGCGGGTGCACAGGCCGGCTCCTCACACATCCCAGCAACCATGGACCCCCCCAACACTCACCCTGAAAAATACACTGTCACATGGGCAGAGCTGAGAGCACCCTGCCACCCCCACACCCAGAAGCCCAGGGGCACAGCACAGAGGACTGCGCAGAGCTGAGGGTGCCAGGCAGCTGGGGTTCCCTGCAGCCACCCTCCCCACCAGGCCCCTCCGGAGGCGTCCACAGAGGGCACATGCACCTGGCTGTGAGGACCAGCAGCCCGCGGGCCCTCCAGTCTTGAGATCAAGTGGTGGTGCTTCTGAAGGACACCAGGGTGGGGCTGGGCCCTGAACTCCACCACCCCGAGGCGGCCAGCTGGCACTCATCCCTGTTCCTCCTGCCCTCCTCCCTGCCCCAACGTGTCTGAAGTTGCCTAGTGGAGGCGCTGTGGGGGTGCCCCCAGCCCACAGCCCCCTGCCCCCGGGGCCATGTACTTGTGCCGGTGGATGATGGCATTGAAGAGGCGGCCGTCTCTCCAGCTGGAGGTGAAGTTGTCGCATCGCAGGCCCTGGTACCCCTCCACCATTCGCTGCGACCACAGCAGCAGCTTCTCCTTGGCCGTCATGTCCTCCGACTGCCCACTCACCTGGATATCTGAGATCTGCTCACAGCAGA | benign | 140,382 |
A genetic variant on chromosome 8, position 144082770, affects the gene GPAA1. Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glycosylphosphatidylinositol_biosynthesis_defect_15'] | GCTCCTGGGGATGATTAGGGACCCTCGCCCACACATGAACGGCCTATCTCTGTGTAGCCTGATTCAAACCCTGAAGAGAACAGTGGATTAGGGGGTTTCTGTAGGGGAGGCCCTGGGTGGAAAAAGCAGCATGTCCCAGTAAGGACTCAAGGCAGCTGAGCAGGAGGCAGGGCCTGGCAAGATGAGCCAGGCCATTAGACTGAGGAATCTGTTACCCTTATTCCAGCACATCGGGGGCCCTGAGCAAAGGGCTGAGGAAGAACTCAGCTGGCTCTGGGTACCCACCCTAGGGATGTGGGGGCCATGTCCCACAACCTCTGGACTATGGTTTGGAGCCCCCTGGGCTTTTCCTGCTGCTTACCTTGGGCTCTGAAAGTACAACAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGAGCTTTGGGAGGCTGAGGCAGGCGGATTGCTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAGTGGTGGCACATGCCTGTAATCCAAGCTACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTAAAAAAAAATAAAAGTACAAAAATTACCTGTTCTCATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTAAAACCCCATCTCTATTAAAGACACAAAAATTAGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTAGGGAGGCTGGGGCAGGAGAATCACTTGAACCAGGAGTTGAAGGTTGCAGTGAGCCAAGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAAAAAAACTTGTTCTCACATGGAGTCTTCAGCTTTGACCCTTCTCTCTGCCCACCACTATTTTGTTTGTTGAGACATGGTCTTGCTCTGTGCTCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGTCTGGATCTCCCAGGCTCAAGTGATCCTCCCACTTTAGCCTCCTGAGCTGAGACTACAGGCATGCCCCACTCACCTGGCTAATTTAAAAGGAATTTTTTTGTGTGTACAGACTGGGTCTCATTTCGTTGTCCAGGCTGATCTCAAAGGATCCACCCACCTCACCTTCCCAAAGTGCACCCTCTTGAGCAAACTCCCCCTTCATTCACCTCTGGCCCACCGAGCCCCGACTACCAGTCCCTGCAGTCTGGACCCTGGGACTGCTTCTCCCCTAATATTCCACGGATCTCCTGGCCCGGACAGTGACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGT | GCTCCTGGGGATGATTAGGGACCCTCGCCCACACATGAACGGCCTATCTCTGTGTAGCCTGATTCAAACCCTGAAGAGAACAGTGGATTAGGGGGTTTCTGTAGGGGAGGCCCTGGGTGGAAAAAGCAGCATGTCCCAGTAAGGACTCAAGGCAGCTGAGCAGGAGGCAGGGCCTGGCAAGATGAGCCAGGCCATTAGACTGAGGAATCTGTTACCCTTATTCCAGCACATCGGGGGCCCTGAGCAAAGGGCTGAGGAAGAACTCAGCTGGCTCTGGGTACCCACCCTAGGGATGTGGGGGCCATGTCCCACAACCTCTGGACTATGGTTTGGAGCCCCCTGGGCTTTTCCTGCTGCTTACCTTGGGCTCTGAAAGTACAACAGCCAGGCATGGTGGCTCACGCCTGTAATCCCAGAGCTTTGGGAGGCTGAGGCAGGCGGATTGCTTCAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGCGAAACCCCGTCTCTACTAAAAATACAAAATTAGCTGGGAGTGGTGGCACATGCCTGTAATCCAAGCTACTCAGGAGGCTGAGACAGGAGAATCTCTTGAACCTGGGAGGCGGAGGTTGCAGTGAGCCGAGATTGTGCCACTGCACTCCAGCCTGGGCGACAGAGCAAGACTCCATCTAAAAAAAAATAAAAGTACAAAAATTACCTGTTCTCATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTAAAACCCCATCTCTATTAAAGACACAAAAATTAGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTAGGGAGGCTGGGGCAGGAGAATCACTTGAACCAGGAGTTGAAGGTTGCAGTGAGCCAAGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAAAAAAACTTGTTCTCACATGGAGTCTTCAGCTTTGACCCTTCTCTCTGCCCACCACTATTTTGTTTGTTGAGACATGGTCTTGCTCTGTGCTCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGTCTGGATCTCCCAGGCTCAAGTGATCCTCCCACTTTAGCCTCCTGAGCTGAGACTACAGGCATGCCCCACTCACCTGGCTAATTTAAAAGGAATTTTTTTGTGTGTACAGACTGGGTCTCATTTCGTTGTCCAGGCTGATCTCAAAGGATCCACCCACCTCACCTTCCCAAAGTGCACCCTCTTGAGCAAACTCCCCCTTCATTCACCTCTGGCCCACCGAGCCCCGACTACCAGTCCCTGCAGTCTGGACCCTGGGACTGCTTCTCCCCTAATATTCCACGGATCTCCTGGCCCGGACAGTGACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTN | pathogenic | 140,507 |
The mutation in gene GPAA1 (glycosylphosphatidylinositol anchor attachment 1) at chromosome 8, position 144083450—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glycosylphosphatidylinositol_biosynthesis_defect_15'] | AAAAATTACCTGTTCTCATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTAAAACCCCATCTCTATTAAAGACACAAAAATTAGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTAGGGAGGCTGGGGCAGGAGAATCACTTGAACCAGGAGTTGAAGGTTGCAGTGAGCCAAGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAAAAAAACTTGTTCTCACATGGAGTCTTCAGCTTTGACCCTTCTCTCTGCCCACCACTATTTTGTTTGTTGAGACATGGTCTTGCTCTGTGCTCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGTCTGGATCTCCCAGGCTCAAGTGATCCTCCCACTTTAGCCTCCTGAGCTGAGACTACAGGCATGCCCCACTCACCTGGCTAATTTAAAAGGAATTTTTTTGTGTGTACAGACTGGGTCTCATTTCGTTGTCCAGGCTGATCTCAAAGGATCCACCCACCTCACCTTCCCAAAGTGCACCCTCTTGAGCAAACTCCCCCTTCATTCACCTCTGGCCCACCGAGCCCCGACTACCAGTCCCTGCAGTCTGGACCCTGGGACTGCTTCTCCCCTAATATTCCACGGATCTCCTGGCCCGGACAGTGACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTCTTGCTCCTGGTCCTTGGTCTCAAGATATCCTCTGCCCCTTGCCATCTACCTGTGACCAGCCTCCAGTCTCCTCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACGGGGGTGAGCCCTGGGTCCCCCTCTGGGCAGATCCCGTTACACCTCTTGTTGGGGTCCTTGATTGGGCTACGCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGAATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAGGTGATGGCACCCCCTTCTGTTGTTGGAATGGGCTTCTGGGGTCTGACTGGTGTTTAGTGTTGCAACTTAGCCTCAGCTGGTGGGATGGTGGTGGTCTTTGGGGATCCCCTGGCCCCAGGGTCCATCTCCAAGAGCCTGTGTGCCCTGCAGGGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCCCTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAGGCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCACAATACCCACCGGTAAGAGGCTGGGCTGGT | AAAAATTACCTGTTCTCATGGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAATGTGGTAAAACCCCATCTCTATTAAAGACACAAAAATTAGTGTGGTGGCAGGCACCTGTAATCCCAGCTACTAGGGAGGCTGGGGCAGGAGAATCACTTGAACCAGGAGTTGAAGGTTGCAGTGAGCCAAGATTACACCACTGCACTCCAGCCTGGGTGACAGAGCAAGACTCTGTCTCAAAAAAAAAACAAAAAAAAACTTGTTCTCACATGGAGTCTTCAGCTTTGACCCTTCTCTCTGCCCACCACTATTTTGTTTGTTGAGACATGGTCTTGCTCTGTGCTCAGGCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAGTCTGGATCTCCCAGGCTCAAGTGATCCTCCCACTTTAGCCTCCTGAGCTGAGACTACAGGCATGCCCCACTCACCTGGCTAATTTAAAAGGAATTTTTTTGTGTGTACAGACTGGGTCTCATTTCGTTGTCCAGGCTGATCTCAAAGGATCCACCCACCTCACCTTCCCAAAGTGCACCCTCTTGAGCAAACTCCCCCTTCATTCACCTCTGGCCCACCGAGCCCCGACTACCAGTCCCTGCAGTCTGGACCCTGGGACTGCTTCTCCCCTAATATTCCACGGATCTCCTGGCCCGGACAGTGACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTCTTGCTCCTGGTCCTTGGTCTCAAGATATCCTCTGCCCCTTGCCATCTACCTGTGACCAGCCTCCAGTCTCCTCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACGGGGGTGAGCCCTGGGTCCCCCTCTGGGCAGATCCCGTTACACCTCTTGTTGGGGTCCTTGATTGGGCTACGCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGAATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAGGTGATGGCACCCCCTTCTGTTGTTGGAATGGGCTTCTGGGGTCTGACTGGTGTTTAGTGTTGCAACTTAGCCTCAGCTGGTGGGATGGTGGTGGTCTTTGGGGATCCCCTGGCCCCAGGGTCCATCTCCAAGAGCCTGTGTGCCCTGCAGGGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCCCTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAGGCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCACAATACCCACCGGTAAGAGGCTGGGCTGGTNN | pathogenic | 140,511 |
Gene GPAA1 (glycosylphosphatidylinositol anchor attachment 1) variant at chromosome 8, position 144083805—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic | GCAGTGGTGTGATCACGGCTCACTGCAGTCTGGATCTCCCAGGCTCAAGTGATCCTCCCACTTTAGCCTCCTGAGCTGAGACTACAGGCATGCCCCACTCACCTGGCTAATTTAAAAGGAATTTTTTTGTGTGTACAGACTGGGTCTCATTTCGTTGTCCAGGCTGATCTCAAAGGATCCACCCACCTCACCTTCCCAAAGTGCACCCTCTTGAGCAAACTCCCCCTTCATTCACCTCTGGCCCACCGAGCCCCGACTACCAGTCCCTGCAGTCTGGACCCTGGGACTGCTTCTCCCCTAATATTCCACGGATCTCCTGGCCCGGACAGTGACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTCTTGCTCCTGGTCCTTGGTCTCAAGATATCCTCTGCCCCTTGCCATCTACCTGTGACCAGCCTCCAGTCTCCTCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACGGGGGTGAGCCCTGGGTCCCCCTCTGGGCAGATCCCGTTACACCTCTTGTTGGGGTCCTTGATTGGGCTACGCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGAATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAGGTGATGGCACCCCCTTCTGTTGTTGGAATGGGCTTCTGGGGTCTGACTGGTGTTTAGTGTTGCAACTTAGCCTCAGCTGGTGGGATGGTGGTGGTCTTTGGGGATCCCCTGGCCCCAGGGTCCATCTCCAAGAGCCTGTGTGCCCTGCAGGGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCCCTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAGGCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCACAATACCCACCGGTAAGAGGCTGGGCTGGTTGTTGGGGGCAGGGGTAGAGGTCCCCTGGACATGCAGACAGCTTGTGGGTTGCCTCTGAGTCCTTTGTCTTACAGGGTGGTAAGCACACAGGCCCCAGACAGGGGCTGGATGGCACTGAAGCTGGTAGCCCTGATCTACCTAGCACTGCAGCTGGGCTGCATCGCCCTCACCAACTTCTCACTGGGCTTCCTGCTGGCCACCACCATGGTGCCCACTGCTGCGCTTGCCAAGCCTCATGGGCCCCGGTATGTATGGATCAGCCCCACTTCCCCCAATGCCTGTGCCCTCATCACAGACCGCACCCTCATTCAGTAGCCCTTTCCCCCAACCTGGTGCCCATGCCCCCACCATGGA | GCAGTGGTGTGATCACGGCTCACTGCAGTCTGGATCTCCCAGGCTCAAGTGATCCTCCCACTTTAGCCTCCTGAGCTGAGACTACAGGCATGCCCCACTCACCTGGCTAATTTAAAAGGAATTTTTTTGTGTGTACAGACTGGGTCTCATTTCGTTGTCCAGGCTGATCTCAAAGGATCCACCCACCTCACCTTCCCAAAGTGCACCCTCTTGAGCAAACTCCCCCTTCATTCACCTCTGGCCCACCGAGCCCCGACTACCAGTCCCTGCAGTCTGGACCCTGGGACTGCTTCTCCCCTAATATTCCACGGATCTCCTGGCCCGGACAGTGACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTCTTGCTCCTGGTCCTTGGTCTCAAGATATCCTCTGCCCCTTGCCATCTACCTGTGACCAGCCTCCAGTCTCCTCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACGGGGGTGAGCCCTGGGTCCCCCTCTGGGCAGATCCCGTTACACCTCTTGTTGGGGTCCTTGATTGGGCTACGCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGAATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAGGTGATGGCACCCCCTTCTGTTGTTGGAATGGGCTTCTGGGGTCTGACTGGTGTTTAGTGTTGCAACTTAGCCTCAGCTGGTGGGATGGTGGTGGTCTTTGGGGATCCCCTGGCCCCAGGGTCCATCTCCAAGAGCCTGTGTGCCCTGCAGGGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCCCTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAGGCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCACAATACCCACCGGTAAGAGGCTGGGCTGGTTGTTGGGGGCAGGGGTAGAGGTCCCCTGGACATGCAGACAGCTTGTGGGTTGCCTCTGAGTCCTTTGTCTTACAGGGTGGTAAGCACACAGGCCCCAGACAGGGGCTGGATGGCACTGAAGCTGGTAGCCCTGATCTACCTAGCACTGCAGCTGGGCTGCATCGCCCTCACCAACTTCTCACTGGGCTTCCTGCTGGCCACCACCATGGTGCCCACTGCTGCGCTTGCCAAGCCTCATGGGCCCCGGTATGTATGGATCAGCCCCACTTCCCCCAATGCCTGTGCCCTCATCACAGACCGCACCCTCATTCAGTAGCCCTTTCCCCCAACCTGGTGCCCATGCCCCCACCATGGANN | pathogenic | 140,513 |
Evaluate the clinical significance of the mutation at chromosome 8, position 144084135 in gene GPAA1 (glycosylphosphatidylinositol anchor attachment 1): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['GPAA1-related_disorder', 'Glycosylphosphatidylinositol_biosynthesis_defect_15'] | GACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCATGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTCTTGCTCCTGGTCCTTGGTCTCAAGATATCCTCTGCCCCTTGCCATCTACCTGTGACCAGCCTCCAGTCTCCTCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACGGGGGTGAGCCCTGGGTCCCCCTCTGGGCAGATCCCGTTACACCTCTTGTTGGGGTCCTTGATTGGGCTACGCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGAATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAGGTGATGGCACCCCCTTCTGTTGTTGGAATGGGCTTCTGGGGTCTGACTGGTGTTTAGTGTTGCAACTTAGCCTCAGCTGGTGGGATGGTGGTGGTCTTTGGGGATCCCCTGGCCCCAGGGTCCATCTCCAAGAGCCTGTGTGCCCTGCAGGGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCCCTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAGGCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCACAATACCCACCGGTAAGAGGCTGGGCTGGTTGTTGGGGGCAGGGGTAGAGGTCCCCTGGACATGCAGACAGCTTGTGGGTTGCCTCTGAGTCCTTTGTCTTACAGGGTGGTAAGCACACAGGCCCCAGACAGGGGCTGGATGGCACTGAAGCTGGTAGCCCTGATCTACCTAGCACTGCAGCTGGGCTGCATCGCCCTCACCAACTTCTCACTGGGCTTCCTGCTGGCCACCACCATGGTGCCCACTGCTGCGCTTGCCAAGCCTCATGGGCCCCGGTATGTATGGATCAGCCCCACTTCCCCCAATGCCTGTGCCCTCATCACAGACCGCACCCTCATTCAGTAGCCCTTTCCCCCAACCTGGTGCCCATGCCCCCACCATGGAGCCTACCTTGATGTTGCTTCTCCACCCAGGACCCTCTATGCTGCCCTGCTGGTGCTGACCAGCCCGGCAGCCACGCTCCTTGGCAGCCTGTTCCTGTGGCGGGAGCTGCAGGAGGCGCCACTGTCACTGGCCGAGGGCTGGCAGCTCTTCCTGGCAGCGCTAGCCCAGGGTGTGCTGGAGCACCACACCTACGGCGCCCTGCTCTTCCCACTGCTGTCCCTGGGCCTCTACCCCTGCTGGCTGCTTTTCTGGAATGTGCTCTTCTGGAAGTGAGATCTGCCTGTCCGGGCTGGGACAGAGACTCCCCAAGGACCCCATTCTGCCTCCTTC | GACAGTATGATCCCCCACTTTATAATGCACACACCCCAGCTCCAGTGAAGCCCGTTTTGGCCAGTAGTGCCATCAGCATCTTCTCTGCAGTCATCTGACTCTGAAAACCTCGGTGCTGGGCTCACGCTGTGACTCCACTGGGACGTCCTGAGTCATTGGCAGTCTCGCTTGGCATCCATTCTCTGACCGCCGCCGGCTTTCCACCCACCTGCCCGGCTCATCACCTCTGACTCCTGCGGGCCTTCCAGCCGGCGCTATCTCGCAGCCCCCGACCAGCTCGGCCTGCTGTCGGGCATCTCTGCTGTCCTCCGGCTGTAGGGCTACCTGCCTCCCTCCCGGGGGGTGCACTGCGAGTCCGACTCTAGTGGGGGCAGCGCCTAGCGGACTCCCAAACCCGCTCAGGTCCTGCCGGCCTCACCGGCACCGCCCACCCTCCAGCCGGCCGCGGCTCTGCGCTTGCGCGCCGGCAGCACACAGTGTTAGGGGCGCGCCCTCTGCTCTGGACATGCGCGCCGTCGCGAGCGTCTCTGGGACCGGAAGTGCGGGCGAGCGCGGGTCCCCGGGTCTGACAGGAGCAGCCTGTGGGCACCGCGGCGGTAGTTGGAGGCGGGAGAGGGTCCGTAGCCGCGCCGCCCTGCCCCGCCATGGGCCTCCTGTCGGACCCGGTTCGCCGGCGCGCGCTCGCCCGCCTAGTGCTGCGCCTCAACGCGCCGTTGTGGTGAGGACAGGGCCCGGGGAGGCGGGGACCCGAGGGCCCTGGGCTCGCGCCGGCGGCCCCATGCGCGGTCCCCATCGAGGGCCGGGGCCGCTCCAGCTGCTCGCGCCCCTCCGGCTGCTCGCGCCCTTCCGCTCCTGCCCTCTGGAAGCACTGAGGGTATCAGGCCCAGGCTTAGGGCTCGGGTCCGGCGTCCCGATGCAGGACTCCGGGTTTAGGTCTCCCAGACCCGCGCGATCGACCCCGGGTGCGGAGGTTGTGGCCTCGGGTCGGCGTCTGAGGACCCGCTGACGCTCCGGTGCCCCTCCGTCCTCTCTCACAGCGTGCTGAGCTACGTGGCGGGCATCGCCTGGTTCTTGGCGCTGGTTTTCCCGCCGCTGACCCAGCGCACTTACATGTCGGAGAACGCCATGGGCTCCACCATGGTGGAGGAGCAGTTTGCGGGCGGAGACCGTGCCCGGGCTTTTGCCCGGGACTTCGCCGCCCACCGCAAGAAGTCGGGGTGAGCGGCAGAGCAGGGCGTATGGGGCGAGCAGTGGTGGCTAAGGCCGGGGAGCTCTGCTCAGAGGCTCCCTTCGTGTCTGCAGGGCTCTGCCAGTGGCCTGGCTTGAACGGACGATGCGGTCAGTAGGGCTGGAGGTCTACACGCAGAGTTTCTCCCGGAAACTGCCCTTCCCAGATGAGACCCACGAGCGCTATGTACTGGGGGAGTGGGGTGTGCCTGGGCCCAGAAAGCACCTTGGAGGGAGGGGTCTGGGCTGGGTATCACCTTGCGGGGGTGTCATGGGGCCAGGAAGCTCAGTGGGAGGGAAATCCCTGGTGGGCACTGGAGGGCTAGGAAAGTTGTGGGGGGCCCTTCAGCCCCCTACCACAAAGTTACACTGAGGCTCCCCCCACCGATGCTGCATACAGATGGTGTCGGGCACCAACGTGTACGGCATCCTGCGGGCCCCGCGTGCTGCCAGCACCGAGTCGCTTGTGCTCACCGTGCCCTGTGGCTCTGACTCTACCAACAGCCAGGCTGTGGGGCTGCTGCTGGCACTGGCTGCCCACTTCCGGGGTGAGTCTCAGGGCTGCTGGCCGTGGAGGGGTTTGGTCAGTGCCCCAGACCCTGCTGATCCTGCTTCTGGCCTCCAGGGCAGATTTATTGGGCCAAAGATATCGTCTTCCTGGTAACAGAACATGACCTTCTGGGCACTGAGGCTTGGCTTGAAGCCTACCACGATGTCAATGTCACTGGTAGGTTCTCTTGTCCTGCCTGCCCTGGTCCCCCTCTCAGGGTCACTGTCCTCACCACGTCCTCCATTAGCACTCATTCACTTGCTCCTACAGGCTGCAGTCGTCTCCCCTGCAGGGCCGAGCTGGGGCCATTCAGGCAGCCGTGGCCCTGGAGCTGAGCAGTGATGTGGTCACCAGCCTCGATGTGGCCGTGGAGGGGCTTAACGGGCAGCTGCCCAACCTTGACCTGCTCAATCTCTTCCAGACCTTCTGCCAGAAAGGGGGCCTGTTGTGCACGCTTCAGGGCAAGGTGGGGCTGCCTGCCTGCCTGAGGGCTGAAGGGCACAGGGTCTGTGGGAGGGGCTGTCTCATCCTGTCCTGCACCTCTAAAGCTGCAGCCCGAGGACTGGACATCATTGGATGGACCGCTGCAGGGCCTGCAGACACTGCTGCTCATGGTTCTGCGGCAGGCCTCCGGCCGCCCCCACGGCTCCCATGGCCTCTTCCTGCGCTACCGTGTGGAGGCCCTAACCCTGCGTGGCATCAATAGCTTCCGCCAGTACAAGTATGACCTGGTGGCAGTGGGCAAGTAAGTAGTCTCTGGTCCCCCCTTTCCATGCCCAGGATGGGGTCTAGCTGGAGCGGAGTGGGGGATGGCCTGGTGGCTCTGGCCAGCCGTGAACCTGCCCCACACCTGACAGGGCTTTGGAGGGCATGTTCCGCAAGCTCAACCACCTCCTGGAGCGCCTGCACCAGTCCTTCTTCCTCTACTTGCTCCCCGGCCTCTCCCGCTTCGTCTCCATCGGCCTCTACATGCCCGCTGTCGGCTTCTTGCTCCTGGTCCTTGGTCTCAAGATATCCTCTGCCCCTTGCCATCTACCTGTGACCAGCCTCCAGTCTCCTCAACTCTAGGCTGGGGAGAGTCTTCCATCCTGATGGGGGGTGGGGTACGGGGGTGAGCCCTGGGTCCCCCTCTGGGCAGATCCCGTTACACCTCTTGTTGGGGTCCTTGATTGGGCTACGCTCTGGAACTGTGGATGCAGCTGCATGAGGCTGGAATGGGCCTTGAGGAGCCCGGGGGTGCCCCTGGCCCCAGTGTACCCCTTCCCCCATCACAGGTGATGGCACCCCCTTCTGTTGTTGGAATGGGCTTCTGGGGTCTGACTGGTGTTTAGTGTTGCAACTTAGCCTCAGCTGGTGGGATGGTGGTGGTCTTTGGGGATCCCCTGGCCCCAGGGTCCATCTCCAAGAGCCTGTGTGCCCTGCAGGGTGTGGGGCTGGCCTCGCTCGTGGCACCTCTGCTGATCTCACAGGCCATGGGACTGGCCCTCTATGTCCTGCCAGTGCTGGGCCAACACGTTGCCACCCAGCACTTCCCAGTGGCAGAGGCTGAGGCTGTGGTGCTGACACTGCTGGCGATTTATGCAGCTGGCCTGGCCCTGCCCCACAATACCCACCGGTAAGAGGCTGGGCTGGTTGTTGGGGGCAGGGGTAGAGGTCCCCTGGACATGCAGACAGCTTGTGGGTTGCCTCTGAGTCCTTTGTCTTACAGGGTGGTAAGCACACAGGCCCCAGACAGGGGCTGGATGGCACTGAAGCTGGTAGCCCTGATCTACCTAGCACTGCAGCTGGGCTGCATCGCCCTCACCAACTTCTCACTGGGCTTCCTGCTGGCCACCACCATGGTGCCCACTGCTGCGCTTGCCAAGCCTCATGGGCCCCGGTATGTATGGATCAGCCCCACTTCCCCCAATGCCTGTGCCCTCATCACAGACCGCACCCTCATTCAGTAGCCCTTTCCCCCAACCTGGTGCCCATGCCCCCACCATGGAGCCTACCTTGATGTTGCTTCTCCACCCAGGACCCTCTATGCTGCCCTGCTGGTGCTGACCAGCCCGGCAGCCACGCTCCTTGGCAGCCTGTTCCTGTGGCGGGAGCTGCAGGAGGCGCCACTGTCACTGGCCGAGGGCTGGCAGCTCTTCCTGGCAGCGCTAGCCCAGGGTGTGCTGGAGCACCACACCTACGGCGCCCTGCTCTTCCCACTGCTGTCCCTGGGCCTCTACCCCTGCTGGCTGCTTTTCTGGAATGTGCTCTTCTGGAAGTGAGATCTGCCTGTCCGGGCTGGGACAGAGACTCCCCAAGGACCCCATTCTGCCTCCTTCN | pathogenic | 140,514 |
Is chromosome 8, position 144096035, gene CYC1 (cytochrome c1) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | AAACTCACGACCTCAAGTGATCTGGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTAGTTTTTAAATTTTATTTGCTTTTTTTTTTTTCTTGAGAGGGAGTCTTCCGTCTGTCATCCAGGCTGGAGTGCAGTGGCACGATCTCTACTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACAAGGTTTCACCATGCTGACCAGGATGGTCTCCATCTTTTGACCTCGTGATCTGCCCGCCCCACCCTCCCAAAGTGCTGGGATTACAGCGTGAGCCACCGCGCCCGGCCTTTGCTTACTTTTTAAATATTTTACAATAAAAATATTCTCACATAACAAGATCATATTTACTTACTTTTTTGAGACGAGGTCTCGCTCGATATCGCCCAGGCTGGAGTGCAGTGGCGATCTCGGCTCACCGCAGTCTCCACCTCCGGGGCTCAAGCGATCCTCCCGCCTCAGCTTCCCAAAGCGCTAGGACCCAAGGCGCGCATCACGCGTCGGGCCATGAGTCAAGGGAATGAAGGAGAACAGGGTGCTCAGCCTGGGGGCCCAGCCTCCCGCTGTCACGCGCTGCCTGCGGCCGAGACCCCTGCCCGCGCCCTCTGCCGGGCTGCCCTCCAAGCCGCCCTTTCTCTGGAGGTCCTCAGCCTGCAGGGGCACCCTCCACCCGGCCATCGCGCAGCCTGGGAAGGTGGAGAAAAGGAGCGTCGGGGTCTCGGAGGCGGCGTGGGAAACGCCGGGCGGAGCGTGGCGCTGTCACGGCAACAGAGAGACGCGACGGGGCCCCGCCCCACCGCCAGTTTCCACGACAACCCGAAGAGCGTGGGGAGGCAGGCGGTGCCCCGGCCCCTGACTGACGCGACCGGGACCAGCGCGCTTCGTCCCCGCCCACCCGACAGGCCCCGCCCCCGAGCCCGGCCCCGCCCCGCGCTCCCCGGCTTTCGCGAGGTTTTGACTCTCGTGGCGCCCCAGGGGCCGACGGGAGTGGCGGCCGCGCGGAGGAGGCCAAGATGGCGGCAGCTGCGGCTTCGCTTCGCGGGGTAGTGTTGGGCCCGCGGGGCGCGGGGCTCCCGGGCGCGCGTGCCCGGGGTCTGCTGTGCAGCGCGCGTCCCGGGCAGCTCCCGCTACGGACACCTCAGGTGAGCGCTGGGCCGGGCCCCGGCCTCCGCGCGGCCCCGCATCTCCGTGAAGGTCACGGCGGGGAGGCTGCGGGCGCGGGCCTGGGCAGCGCGGAAGCGGTACCGGCCACCCAGCGTCCCCGGTCCCAGCTGCCTGCCGACCTTGAGCGTGTGGGATCAGGGCTGGGCGCCCACCTCTCCGAACGGCAGAGAGCCCGTCCCCAGCGTGGGGGTTGGCGGGACGGGCTAGCTGCCGTGGCGGGGCTGGGGCTTTCCCGAATGGCGCGCCCAGGACGGCTCTTGCGGCTGGCTGTCCAAACTGGGCCCGCGTCCTGAAGTGACCCCAGCCTGATCTCGGCCAGCTGCTTGTGACCTTGGCCTGTCCCAGCACCCTTGGTCACTTCGGTCTGATCCCCGGCTCAGGATCCAGGAACACCCTCTCCTGAGAGCGAATCACGGTCTAGGGGTCAGCGGCGGAGAGGGATGGGGTGGGTAGTGGGACAGGGTGTGCGTCTGGTGCCCTGCAGGAGGAGGCCATTGCTGGGTGGAGAGGTGGGCGCTGAGAGTCAGATCCCCAGGTAGGGCTGGGTGGTGTCCTGGCAGGCGCTGAGCGGAGATCTTGCAGGCAGTGGCCTTGTCGTCGAAGTCTGGCCTTTCCCGAGGCCGGAAAGTGATGCTGTCAGCGCTGGGCATGCTGGCGGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTGTGAGTGCCAGTGACCTGGAGCTGCACCCCCCCAGCTATCCGTGGTCTCACCGTGGCCTCCTCTCTTCCTTGGACCACACCAGGTGTGCAGCTGGCTGGCTGGCTGGCAGCGGGAGGTTCTGGGTGGAGCTGGTAAGGTGGAATCTTCAGCTTTCCTAACCCTTTCCCTCCCTCCAGCATCCGGAGGGGTTTCCAGGTATATAAGCAGGTGTGCGCCTCCTGCCACAGCATGGACTTCGTGGCCTACCGCCACCTGGTGGGCGTGTGCTACACGGAGGATGAAGCTAAGGAGCTGGCTGCGGAGGTGTGGGGTCTGGGGATGCCTGGGACCCAGGGCTCAGGGCTCCCACTGTTGAGATGGCAGGGTTGTGATGAGGCTCTCGGTGGCAGGTGGAGGTTCAAGACGGCCCCAATGAAGATGGGGAGATGTTCATGCGGCCAGGGAAGCTGTTCGACTATTTCCCAAAACCATACCCCAACAGTGAGGCTGCTCGAGCTGCCAACAACGGAGCATTGCCCCCTGACCTCAGCTACATCGTGCGAGCTAGGTACACGGGCTGCCCATGGGGTGGTGCTGGAGAGATGGGGGAAGGGCTGACTTGTGCTTGGAACTAAGGAGCCATGGATCTGGTCCTAGGCATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGGTGTCACTGCGGGAAGGTCTCTACTTCAACCCCTACTTTCCTGGCCAGGCCATTGCCATGGCCCCTCCCATCTACACAGATGTCTTAGAGTTTGACGATGGTAAGAGGCCTCCAGTCTGGCAGTGGGCATGTGGAATACTTCTCCACTACCCCCAGGGATGCTTTCCCTGTGTTCCTGGGTCCAGGAGGTCCTGCCCACTTCTTGTCTGGGGCGTCTTCTGTGCATGTCTCAGGAGGCTTTTGGGCTCCTTCAGTTTTGCGTATGTCCGGTGGAGGGTACTGCCCCTTTGATGCCTTGGGTAGGGGCAGTGTCTGCTTCACAGAGGGGGGGCATGATCCCAGGTTGGACATGAGCCTGAGAATAGCCCTCACTGCTTGTCGTTGGCCAGGCACCCCAGCTACCATGTCCCAGATAGCCAAGGATGTGTGCACCTTCCTGCGCTGGGCATCTGAGCCAGAGCACGACCATCGAAAACGCATGGGGCTCAAGGTAAAAGGGTTGGGAGGCCATGGTGGGTATCAGAGAAGGGCTGGGAGCTGGGCAGGGCTCCTCCCCACTCCCTTCTCTGAGCCTTCCTTGTCTGCAGATGTTGATGATGATGGCTCTGCTGGTGCCCCTGGTCTACACCATAAAGCGGCACAAGTGGTCAGTCCTGAAGAGTCGGAAGCTGGCATATCGGCCGCCCAAGTGACCCTGTCCAGTGTCTGCTTGCCATCCTGCCAGAACAGGCCCTCAAGCCCAAGAGCCATCCCAGGCCTGTTCAGGCCTCAGCTAAGCCTCTCTTCATCTGGAAGAAGAGGCAAGGGGGCAGGAGACCAGGCTCTAGCTCTGGGCCCTCCTTCAGCCCCCATCATGGGAATAAATTAATTTTCTCAATGTACATATTTGAGTTATTATATGGAAAGAGTGCACGTTTGCAAGGAACTCTGATACCAAGACCCTTGCCTTCACAAGGCTCCCAGGATGTCCCATGCAGTGTGGCCAGCAATGCCCTGCACTGACTGGTAGCTGGGAGTCCAGACAGTGGGTGTGGGACAGAAAGCGGAGAACTGCATGTTAGAGGAAGTCAGCATTTGGTGGGGTGGGGTGTGTCTGAGCACAGAGCTGAAAAGGGCCTAGCCAGGCAGGATGTGGCCCAGGGACCTGTTGGAATGAACAGCCAAGTGTTAAGGTGTTGAACCACTTGGCCCCCATTCTGATGGCAGCAGGGAACCTTGGCTGCATTTTAACAGGGGAAAGGCCTGGTCTAGGGCAGGGGCTATTTATTGCTGGGCTGGGCTGAGGAAGGGGATGGCTCCCAGCCAGGTGAAGGAGTCAAGTAGACAGACAGGATGTGTGTCATGGAGTGGCCCCTCCTAGCAGTCCACAGGGTAGCTAGGTGGTGGGTCCTGGCCAGAAGCTGGCAGTAGCTGGGTTCCCACAGGAGCATGCTGCTGA | AAACTCACGACCTCAAGTGATCTGGGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCTAGTTTTTAAATTTTATTTGCTTTTTTTTTTTTCTTGAGAGGGAGTCTTCCGTCTGTCATCCAGGCTGGAGTGCAGTGGCACGATCTCTACTCACTGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCAGAGTAGCTGGGACTACAGGCGCGCGCCACCACGCCTGGCTAATTTTTGTATTTTCAGTAGAGACAAGGTTTCACCATGCTGACCAGGATGGTCTCCATCTTTTGACCTCGTGATCTGCCCGCCCCACCCTCCCAAAGTGCTGGGATTACAGCGTGAGCCACCGCGCCCGGCCTTTGCTTACTTTTTAAATATTTTACAATAAAAATATTCTCACATAACAAGATCATATTTACTTACTTTTTTGAGACGAGGTCTCGCTCGATATCGCCCAGGCTGGAGTGCAGTGGCGATCTCGGCTCACCGCAGTCTCCACCTCCGGGGCTCAAGCGATCCTCCCGCCTCAGCTTCCCAAAGCGCTAGGACCCAAGGCGCGCATCACGCGTCGGGCCATGAGTCAAGGGAATGAAGGAGAACAGGGTGCTCAGCCTGGGGGCCCAGCCTCCCGCTGTCACGCGCTGCCTGCGGCCGAGACCCCTGCCCGCGCCCTCTGCCGGGCTGCCCTCCAAGCCGCCCTTTCTCTGGAGGTCCTCAGCCTGCAGGGGCACCCTCCACCCGGCCATCGCGCAGCCTGGGAAGGTGGAGAAAAGGAGCGTCGGGGTCTCGGAGGCGGCGTGGGAAACGCCGGGCGGAGCGTGGCGCTGTCACGGCAACAGAGAGACGCGACGGGGCCCCGCCCCACCGCCAGTTTCCACGACAACCCGAAGAGCGTGGGGAGGCAGGCGGTGCCCCGGCCCCTGACTGACGCGACCGGGACCAGCGCGCTTCGTCCCCGCCCACCCGACAGGCCCCGCCCCCGAGCCCGGCCCCGCCCCGCGCTCCCCGGCTTTCGCGAGGTTTTGACTCTCGTGGCGCCCCAGGGGCCGACGGGAGTGGCGGCCGCGCGGAGGAGGCCAAGATGGCGGCAGCTGCGGCTTCGCTTCGCGGGGTAGTGTTGGGCCCGCGGGGCGCGGGGCTCCCGGGCGCGCGTGCCCGGGGTCTGCTGTGCAGCGCGCGTCCCGGGCAGCTCCCGCTACGGACACCTCAGGTGAGCGCTGGGCCGGGCCCCGGCCTCCGCGCGGCCCCGCATCTCCGTGAAGGTCACGGCGGGGAGGCTGCGGGCGCGGGCCTGGGCAGCGCGGAAGCGGTACCGGCCACCCAGCGTCCCCGGTCCCAGCTGCCTGCCGACCTTGAGCGTGTGGGATCAGGGCTGGGCGCCCACCTCTCCGAACGGCAGAGAGCCCGTCCCCAGCGTGGGGGTTGGCGGGACGGGCTAGCTGCCGTGGCGGGGCTGGGGCTTTCCCGAATGGCGCGCCCAGGACGGCTCTTGCGGCTGGCTGTCCAAACTGGGCCCGCGTCCTGAAGTGACCCCAGCCTGATCTCGGCCAGCTGCTTGTGACCTTGGCCTGTCCCAGCACCCTTGGTCACTTCGGTCTGATCCCCGGCTCAGGATCCAGGAACACCCTCTCCTGAGAGCGAATCACGGTCTAGGGGTCAGCGGCGGAGAGGGATGGGGTGGGTAGTGGGACAGGGTGTGCGTCTGGTGCCCTGCAGGAGGAGGCCATTGCTGGGTGGAGAGGTGGGCGCTGAGAGTCAGATCCCCAGGTAGGGCTGGGTGGTGTCCTGGCAGGCGCTGAGCGGAGATCTTGCAGGCAGTGGCCTTGTCGTCGAAGTCTGGCCTTTCCCGAGGCCGGAAAGTGATGCTGTCAGCGCTGGGCATGCTGGCGGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTGTGAGTGCCAGTGACCTGGAGCTGCACCCCCCCAGCTATCCGTGGTCTCACCGTGGCCTCCTCTCTTCCTTGGACCACACCAGGTGTGCGGCTGGCTGGCTGGCAGCGGGAGGTTCTGGGTGGAGCTGGTAAGGTGGAATCTTCAGCTTTCCTAACCCTTTCCCTCCCTCCAGCATCCGGAGGGGTTTCCAGGTATATAAGCAGGTGTGCGCCTCCTGCCACAGCATGGACTTCGTGGCCTACCGCCACCTGGTGGGCGTGTGCTACACGGAGGATGAAGCTAAGGAGCTGGCTGCGGAGGTGTGGGGTCTGGGGATGCCTGGGACCCAGGGCTCAGGGCTCCCACTGTTGAGATGGCAGGGTTGTGATGAGGCTCTCGGTGGCAGGTGGAGGTTCAAGACGGCCCCAATGAAGATGGGGAGATGTTCATGCGGCCAGGGAAGCTGTTCGACTATTTCCCAAAACCATACCCCAACAGTGAGGCTGCTCGAGCTGCCAACAACGGAGCATTGCCCCCTGACCTCAGCTACATCGTGCGAGCTAGGTACACGGGCTGCCCATGGGGTGGTGCTGGAGAGATGGGGGAAGGGCTGACTTGTGCTTGGAACTAAGGAGCCATGGATCTGGTCCTAGGCATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGGTGTCACTGCGGGAAGGTCTCTACTTCAACCCCTACTTTCCTGGCCAGGCCATTGCCATGGCCCCTCCCATCTACACAGATGTCTTAGAGTTTGACGATGGTAAGAGGCCTCCAGTCTGGCAGTGGGCATGTGGAATACTTCTCCACTACCCCCAGGGATGCTTTCCCTGTGTTCCTGGGTCCAGGAGGTCCTGCCCACTTCTTGTCTGGGGCGTCTTCTGTGCATGTCTCAGGAGGCTTTTGGGCTCCTTCAGTTTTGCGTATGTCCGGTGGAGGGTACTGCCCCTTTGATGCCTTGGGTAGGGGCAGTGTCTGCTTCACAGAGGGGGGGCATGATCCCAGGTTGGACATGAGCCTGAGAATAGCCCTCACTGCTTGTCGTTGGCCAGGCACCCCAGCTACCATGTCCCAGATAGCCAAGGATGTGTGCACCTTCCTGCGCTGGGCATCTGAGCCAGAGCACGACCATCGAAAACGCATGGGGCTCAAGGTAAAAGGGTTGGGAGGCCATGGTGGGTATCAGAGAAGGGCTGGGAGCTGGGCAGGGCTCCTCCCCACTCCCTTCTCTGAGCCTTCCTTGTCTGCAGATGTTGATGATGATGGCTCTGCTGGTGCCCCTGGTCTACACCATAAAGCGGCACAAGTGGTCAGTCCTGAAGAGTCGGAAGCTGGCATATCGGCCGCCCAAGTGACCCTGTCCAGTGTCTGCTTGCCATCCTGCCAGAACAGGCCCTCAAGCCCAAGAGCCATCCCAGGCCTGTTCAGGCCTCAGCTAAGCCTCTCTTCATCTGGAAGAAGAGGCAAGGGGGCAGGAGACCAGGCTCTAGCTCTGGGCCCTCCTTCAGCCCCCATCATGGGAATAAATTAATTTTCTCAATGTACATATTTGAGTTATTATATGGAAAGAGTGCACGTTTGCAAGGAACTCTGATACCAAGACCCTTGCCTTCACAAGGCTCCCAGGATGTCCCATGCAGTGTGGCCAGCAATGCCCTGCACTGACTGGTAGCTGGGAGTCCAGACAGTGGGTGTGGGACAGAAAGCGGAGAACTGCATGTTAGAGGAAGTCAGCATTTGGTGGGGTGGGGTGTGTCTGAGCACAGAGCTGAAAAGGGCCTAGCCAGGCAGGATGTGGCCCAGGGACCTGTTGGAATGAACAGCCAAGTGTTAAGGTGTTGAACCACTTGGCCCCCATTCTGATGGCAGCAGGGAACCTTGGCTGCATTTTAACAGGGGAAAGGCCTGGTCTAGGGCAGGGGCTATTTATTGCTGGGCTGGGCTGAGGAAGGGGATGGCTCCCAGCCAGGTGAAGGAGTCAAGTAGACAGACAGGATGTGTGTCATGGAGTGGCCCCTCCTAGCAGTCCACAGGGTAGCTAGGTGGTGGGTCCTGGCCAGAAGCTGGCAGTAGCTGGGTTCCCACAGGAGCATGCTGCTGANNNN | benign | 140,552 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 8, position 144096334, gene CYC1 (cytochrome c1). What disease(s) is it linked to if pathogenic? | benign | ACCAGGATGGTCTCCATCTTTTGACCTCGTGATCTGCCCGCCCCACCCTCCCAAAGTGCTGGGATTACAGCGTGAGCCACCGCGCCCGGCCTTTGCTTACTTTTTAAATATTTTACAATAAAAATATTCTCACATAACAAGATCATATTTACTTACTTTTTTGAGACGAGGTCTCGCTCGATATCGCCCAGGCTGGAGTGCAGTGGCGATCTCGGCTCACCGCAGTCTCCACCTCCGGGGCTCAAGCGATCCTCCCGCCTCAGCTTCCCAAAGCGCTAGGACCCAAGGCGCGCATCACGCGTCGGGCCATGAGTCAAGGGAATGAAGGAGAACAGGGTGCTCAGCCTGGGGGCCCAGCCTCCCGCTGTCACGCGCTGCCTGCGGCCGAGACCCCTGCCCGCGCCCTCTGCCGGGCTGCCCTCCAAGCCGCCCTTTCTCTGGAGGTCCTCAGCCTGCAGGGGCACCCTCCACCCGGCCATCGCGCAGCCTGGGAAGGTGGAGAAAAGGAGCGTCGGGGTCTCGGAGGCGGCGTGGGAAACGCCGGGCGGAGCGTGGCGCTGTCACGGCAACAGAGAGACGCGACGGGGCCCCGCCCCACCGCCAGTTTCCACGACAACCCGAAGAGCGTGGGGAGGCAGGCGGTGCCCCGGCCCCTGACTGACGCGACCGGGACCAGCGCGCTTCGTCCCCGCCCACCCGACAGGCCCCGCCCCCGAGCCCGGCCCCGCCCCGCGCTCCCCGGCTTTCGCGAGGTTTTGACTCTCGTGGCGCCCCAGGGGCCGACGGGAGTGGCGGCCGCGCGGAGGAGGCCAAGATGGCGGCAGCTGCGGCTTCGCTTCGCGGGGTAGTGTTGGGCCCGCGGGGCGCGGGGCTCCCGGGCGCGCGTGCCCGGGGTCTGCTGTGCAGCGCGCGTCCCGGGCAGCTCCCGCTACGGACACCTCAGGTGAGCGCTGGGCCGGGCCCCGGCCTCCGCGCGGCCCCGCATCTCCGTGAAGGTCACGGCGGGGAGGCTGCGGGCGCGGGCCTGGGCAGCGCGGAAGCGGTACCGGCCACCCAGCGTCCCCGGTCCCAGCTGCCTGCCGACCTTGAGCGTGTGGGATCAGGGCTGGGCGCCCACCTCTCCGAACGGCAGAGAGCCCGTCCCCAGCGTGGGGGTTGGCGGGACGGGCTAGCTGCCGTGGCGGGGCTGGGGCTTTCCCGAATGGCGCGCCCAGGACGGCTCTTGCGGCTGGCTGTCCAAACTGGGCCCGCGTCCTGAAGTGACCCCAGCCTGATCTCGGCCAGCTGCTTGTGACCTTGGCCTGTCCCAGCACCCTTGGTCACTTCGGTCTGATCCCCGGCTCAGGATCCAGGAACACCCTCTCCTGAGAGCGAATCACGGTCTAGGGGTCAGCGGCGGAGAGGGATGGGGTGGGTAGTGGGACAGGGTGTGCGTCTGGTGCCCTGCAGGAGGAGGCCATTGCTGGGTGGAGAGGTGGGCGCTGAGAGTCAGATCCCCAGGTAGGGCTGGGTGGTGTCCTGGCAGGCGCTGAGCGGAGATCTTGCAGGCAGTGGCCTTGTCGTCGAAGTCTGGCCTTTCCCGAGGCCGGAAAGTGATGCTGTCAGCGCTGGGCATGCTGGCGGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTGTGAGTGCCAGTGACCTGGAGCTGCACCCCCCCAGCTATCCGTGGTCTCACCGTGGCCTCCTCTCTTCCTTGGACCACACCAGGTGTGCAGCTGGCTGGCTGGCTGGCAGCGGGAGGTTCTGGGTGGAGCTGGTAAGGTGGAATCTTCAGCTTTCCTAACCCTTTCCCTCCCTCCAGCATCCGGAGGGGTTTCCAGGTATATAAGCAGGTGTGCGCCTCCTGCCACAGCATGGACTTCGTGGCCTACCGCCACCTGGTGGGCGTGTGCTACACGGAGGATGAAGCTAAGGAGCTGGCTGCGGAGGTGTGGGGTCTGGGGATGCCTGGGACCCAGGGCTCAGGGCTCCCACTGTTGAGATGGCAGGGTTGTGATGAGGCTCTCGGTGGCAGGTGGAGGTTCAAGACGGCCCCAATGAAGATGGGGAGATGTTCATGCGGCCAGGGAAGCTGTTCGACTATTTCCCAAAACCATACCCCAACAGTGAGGCTGCTCGAGCTGCCAACAACGGAGCATTGCCCCCTGACCTCAGCTACATCGTGCGAGCTAGGTACACGGGCTGCCCATGGGGTGGTGCTGGAGAGATGGGGGAAGGGCTGACTTGTGCTTGGAACTAAGGAGCCATGGATCTGGTCCTAGGCATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGGTGTCACTGCGGGAAGGTCTCTACTTCAACCCCTACTTTCCTGGCCAGGCCATTGCCATGGCCCCTCCCATCTACACAGATGTCTTAGAGTTTGACGATGGTAAGAGGCCTCCAGTCTGGCAGTGGGCATGTGGAATACTTCTCCACTACCCCCAGGGATGCTTTCCCTGTGTTCCTGGGTCCAGGAGGTCCTGCCCACTTCTTGTCTGGGGCGTCTTCTGTGCATGTCTCAGGAGGCTTTTGGGCTCCTTCAGTTTTGCGTATGTCCGGTGGAGGGTACTGCCCCTTTGATGCCTTGGGTAGGGGCAGTGTCTGCTTCACAGAGGGGGGGCATGATCCCAGGTTGGACATGAGCCTGAGAATAGCCCTCACTGCTTGTCGTTGGCCAGGCACCCCAGCTACCATGTCCCAGATAGCCAAGGATGTGTGCACCTTCCTGCGCTGGGCATCTGAGCCAGAGCACGACCATCGAAAACGCATGGGGCTCAAGGTAAAAGGGTTGGGAGGCCATGGTGGGTATCAGAGAAGGGCTGGGAGCTGGGCAGGGCTCCTCCCCACTCCCTTCTCTGAGCCTTCCTTGTCTGCAGATGTTGATGATGATGGCTCTGCTGGTGCCCCTGGTCTACACCATAAAGCGGCACAAGTGGTCAGTCCTGAAGAGTCGGAAGCTGGCATATCGGCCGCCCAAGTGACCCTGTCCAGTGTCTGCTTGCCATCCTGCCAGAACAGGCCCTCAAGCCCAAGAGCCATCCCAGGCCTGTTCAGGCCTCAGCTAAGCCTCTCTTCATCTGGAAGAAGAGGCAAGGGGGCAGGAGACCAGGCTCTAGCTCTGGGCCCTCCTTCAGCCCCCATCATGGGAATAAATTAATTTTCTCAATGTACATATTTGAGTTATTATATGGAAAGAGTGCACGTTTGCAAGGAACTCTGATACCAAGACCCTTGCCTTCACAAGGCTCCCAGGATGTCCCATGCAGTGTGGCCAGCAATGCCCTGCACTGACTGGTAGCTGGGAGTCCAGACAGTGGGTGTGGGACAGAAAGCGGAGAACTGCATGTTAGAGGAAGTCAGCATTTGGTGGGGTGGGGTGTGTCTGAGCACAGAGCTGAAAAGGGCCTAGCCAGGCAGGATGTGGCCCAGGGACCTGTTGGAATGAACAGCCAAGTGTTAAGGTGTTGAACCACTTGGCCCCCATTCTGATGGCAGCAGGGAACCTTGGCTGCATTTTAACAGGGGAAAGGCCTGGTCTAGGGCAGGGGCTATTTATTGCTGGGCTGGGCTGAGGAAGGGGATGGCTCCCAGCCAGGTGAAGGAGTCAAGTAGACAGACAGGATGTGTGTCATGGAGTGGCCCCTCCTAGCAGTCCACAGGGTAGCTAGGTGGTGGGTCCTGGCCAGAAGCTGGCAGTAGCTGGGTTCCCACAGGAGCATGCTGCTGAGGGAGGGAGACAGTGGATGCTATCTAGGAGGGTCACAGAGACATGACCCAGCACCGGCCCAGTGACCTGGTGCAGGACTCAGCTCCTGAGCTTCCCTCGTCCCTAGGAAGGGAAGGAAAACACCCATTTTCATTGCTGGTGTCCTAGCTGCAAGAGCTGAGGGGAGTGGTGGCCATAGTCCAAGGAAGGCAAGAGCTGAATGGGAGAAAGGTGGTACCAATAGGCCTGCAGGCAAGAGAGGTGCAGGCCTGGGGGACCAGGGTGGACAGTAGGAGACAAGGTCAGTGGTGGGGGCTGCA | ACCAGGATGGTCTCCATCTTTTGACCTCGTGATCTGCCCGCCCCACCCTCCCAAAGTGCTGGGATTACAGCGTGAGCCACCGCGCCCGGCCTTTGCTTACTTTTTAAATATTTTACAATAAAAATATTCTCACATAACAAGATCATATTTACTTACTTTTTTGAGACGAGGTCTCGCTCGATATCGCCCAGGCTGGAGTGCAGTGGCGATCTCGGCTCACCGCAGTCTCCACCTCCGGGGCTCAAGCGATCCTCCCGCCTCAGCTTCCCAAAGCGCTAGGACCCAAGGCGCGCATCACGCGTCGGGCCATGAGTCAAGGGAATGAAGGAGAACAGGGTGCTCAGCCTGGGGGCCCAGCCTCCCGCTGTCACGCGCTGCCTGCGGCCGAGACCCCTGCCCGCGCCCTCTGCCGGGCTGCCCTCCAAGCCGCCCTTTCTCTGGAGGTCCTCAGCCTGCAGGGGCACCCTCCACCCGGCCATCGCGCAGCCTGGGAAGGTGGAGAAAAGGAGCGTCGGGGTCTCGGAGGCGGCGTGGGAAACGCCGGGCGGAGCGTGGCGCTGTCACGGCAACAGAGAGACGCGACGGGGCCCCGCCCCACCGCCAGTTTCCACGACAACCCGAAGAGCGTGGGGAGGCAGGCGGTGCCCCGGCCCCTGACTGACGCGACCGGGACCAGCGCGCTTCGTCCCCGCCCACCCGACAGGCCCCGCCCCCGAGCCCGGCCCCGCCCCGCGCTCCCCGGCTTTCGCGAGGTTTTGACTCTCGTGGCGCCCCAGGGGCCGACGGGAGTGGCGGCCGCGCGGAGGAGGCCAAGATGGCGGCAGCTGCGGCTTCGCTTCGCGGGGTAGTGTTGGGCCCGCGGGGCGCGGGGCTCCCGGGCGCGCGTGCCCGGGGTCTGCTGTGCAGCGCGCGTCCCGGGCAGCTCCCGCTACGGACACCTCAGGTGAGCGCTGGGCCGGGCCCCGGCCTCCGCGCGGCCCCGCATCTCCGTGAAGGTCACGGCGGGGAGGCTGCGGGCGCGGGCCTGGGCAGCGCGGAAGCGGTACCGGCCACCCAGCGTCCCCGGTCCCAGCTGCCTGCCGACCTTGAGCGTGTGGGATCAGGGCTGGGCGCCCACCTCTCCGAACGGCAGAGAGCCCGTCCCCAGCGTGGGGGTTGGCGGGACGGGCTAGCTGCCGTGGCGGGGCTGGGGCTTTCCCGAATGGCGCGCCCAGGACGGCTCTTGCGGCTGGCTGTCCAAACTGGGCCCGCGTCCTGAAGTGACCCCAGCCTGATCTCGGCCAGCTGCTTGTGACCTTGGCCTGTCCCAGCACCCTTGGTCACTTCGGTCTGATCCCCGGCTCAGGATCCAGGAACACCCTCTCCTGAGAGCGAATCACGGTCTAGGGGTCAGCGGCGGAGAGGGATGGGGTGGGTAGTGGGACAGGGTGTGCGTCTGGTGCCCTGCAGGAGGAGGCCATTGCTGGGTGGAGAGGTGGGCGCTGAGAGTCAGATCCCCAGGTAGGGCTGGGTGGTGTCCTGGCAGGCGCTGAGCGGAGATCTTGCAGGCAGTGGCCTTGTCGTCGAAGTCTGGCCTTTCCCGAGGCCGGAAAGTGATGCTGTCAGCGCTGGGCATGCTGGCGGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTGTGAGTGCCAGTGACCTGGAGCTGCACCCCCCCAGCTATCCGTGGTCTCACCGTGGCCTCCTCTCTTCCTTGGACCACACCAGGTGTGCAGCTGGCTGGCTGGCTGGCAGCGGGAGGTTCTGGGTGGAGCTGGTAAGGTGGAATCTTCAGCTTTCCTAACCCTTTCCCTCCCTCCAGCATCCGGAGGGGTTTCCAGGTATATAAGCAGGTGTGCGCCTCCTGCCACAGCATGGACTTCGTGGCCTACCGCCACCTGGTGGGCGTGTGCTACACGGAGGATGAAGCTAAGGAGCTGGCTGCGGAGGTGTGGGGTCTGGGGATGCCTGGGACCCAGGGCTCAGGGCTCCCACTGTTGAGATGGCAGGGTTGTGATGAGGCTCTCGGTGGCAGGTGGAGGTGGAGGTTCAAGACGGCCCCAATGAAGATGGGGAGATGTTCATGCGGCCAGGGAAGCTGTTCGACTATTTCCCAAAACCATACCCCAACAGTGAGGCTGCTCGAGCTGCCAACAACGGAGCATTGCCCCCTGACCTCAGCTACATCGTGCGAGCTAGGTACACGGGCTGCCCATGGGGTGGTGCTGGAGAGATGGGGGAAGGGCTGACTTGTGCTTGGAACTAAGGAGCCATGGATCTGGTCCTAGGCATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGGTGTCACTGCGGGAAGGTCTCTACTTCAACCCCTACTTTCCTGGCCAGGCCATTGCCATGGCCCCTCCCATCTACACAGATGTCTTAGAGTTTGACGATGGTAAGAGGCCTCCAGTCTGGCAGTGGGCATGTGGAATACTTCTCCACTACCCCCAGGGATGCTTTCCCTGTGTTCCTGGGTCCAGGAGGTCCTGCCCACTTCTTGTCTGGGGCGTCTTCTGTGCATGTCTCAGGAGGCTTTTGGGCTCCTTCAGTTTTGCGTATGTCCGGTGGAGGGTACTGCCCCTTTGATGCCTTGGGTAGGGGCAGTGTCTGCTTCACAGAGGGGGGGCATGATCCCAGGTTGGACATGAGCCTGAGAATAGCCCTCACTGCTTGTCGTTGGCCAGGCACCCCAGCTACCATGTCCCAGATAGCCAAGGATGTGTGCACCTTCCTGCGCTGGGCATCTGAGCCAGAGCACGACCATCGAAAACGCATGGGGCTCAAGGTAAAAGGGTTGGGAGGCCATGGTGGGTATCAGAGAAGGGCTGGGAGCTGGGCAGGGCTCCTCCCCACTCCCTTCTCTGAGCCTTCCTTGTCTGCAGATGTTGATGATGATGGCTCTGCTGGTGCCCCTGGTCTACACCATAAAGCGGCACAAGTGGTCAGTCCTGAAGAGTCGGAAGCTGGCATATCGGCCGCCCAAGTGACCCTGTCCAGTGTCTGCTTGCCATCCTGCCAGAACAGGCCCTCAAGCCCAAGAGCCATCCCAGGCCTGTTCAGGCCTCAGCTAAGCCTCTCTTCATCTGGAAGAAGAGGCAAGGGGGCAGGAGACCAGGCTCTAGCTCTGGGCCCTCCTTCAGCCCCCATCATGGGAATAAATTAATTTTCTCAATGTACATATTTGAGTTATTATATGGAAAGAGTGCACGTTTGCAAGGAACTCTGATACCAAGACCCTTGCCTTCACAAGGCTCCCAGGATGTCCCATGCAGTGTGGCCAGCAATGCCCTGCACTGACTGGTAGCTGGGAGTCCAGACAGTGGGTGTGGGACAGAAAGCGGAGAACTGCATGTTAGAGGAAGTCAGCATTTGGTGGGGTGGGGTGTGTCTGAGCACAGAGCTGAAAAGGGCCTAGCCAGGCAGGATGTGGCCCAGGGACCTGTTGGAATGAACAGCCAAGTGTTAAGGTGTTGAACCACTTGGCCCCCATTCTGATGGCAGCAGGGAACCTTGGCTGCATTTTAACAGGGGAAAGGCCTGGTCTAGGGCAGGGGCTATTTATTGCTGGGCTGGGCTGAGGAAGGGGATGGCTCCCAGCCAGGTGAAGGAGTCAAGTAGACAGACAGGATGTGTGTCATGGAGTGGCCCCTCCTAGCAGTCCACAGGGTAGCTAGGTGGTGGGTCCTGGCCAGAAGCTGGCAGTAGCTGGGTTCCCACAGGAGCATGCTGCTGAGGGAGGGAGACAGTGGATGCTATCTAGGAGGGTCACAGAGACATGACCCAGCACCGGCCCAGTGACCTGGTGCAGGACTCAGCTCCTGAGCTTCCCTCGTCCCTAGGAAGGGAAGGAAAACACCCATTTTCATTGCTGGTGTCCTAGCTGCAAGAGCTGAGGGGAGTGGTGGCCATAGTCCAAGGAAGGCAAGAGCTGAATGGGAGAAAGGTGGTACCAATAGGCCTGCAGGCAAGAGAGGTGCAGGCCTGGGGGACCAGGGTGGACAGTAGGAGACAAGGTCAGTGGTGGGG | benign | 140,556 |
A genetic variant at chromosome 8, position 144096762, affecting gene CYC1 (cytochrome c1)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | benign | GCCCTTTCTCTGGAGGTCCTCAGCCTGCAGGGGCACCCTCCACCCGGCCATCGCGCAGCCTGGGAAGGTGGAGAAAAGGAGCGTCGGGGTCTCGGAGGCGGCGTGGGAAACGCCGGGCGGAGCGTGGCGCTGTCACGGCAACAGAGAGACGCGACGGGGCCCCGCCCCACCGCCAGTTTCCACGACAACCCGAAGAGCGTGGGGAGGCAGGCGGTGCCCCGGCCCCTGACTGACGCGACCGGGACCAGCGCGCTTCGTCCCCGCCCACCCGACAGGCCCCGCCCCCGAGCCCGGCCCCGCCCCGCGCTCCCCGGCTTTCGCGAGGTTTTGACTCTCGTGGCGCCCCAGGGGCCGACGGGAGTGGCGGCCGCGCGGAGGAGGCCAAGATGGCGGCAGCTGCGGCTTCGCTTCGCGGGGTAGTGTTGGGCCCGCGGGGCGCGGGGCTCCCGGGCGCGCGTGCCCGGGGTCTGCTGTGCAGCGCGCGTCCCGGGCAGCTCCCGCTACGGACACCTCAGGTGAGCGCTGGGCCGGGCCCCGGCCTCCGCGCGGCCCCGCATCTCCGTGAAGGTCACGGCGGGGAGGCTGCGGGCGCGGGCCTGGGCAGCGCGGAAGCGGTACCGGCCACCCAGCGTCCCCGGTCCCAGCTGCCTGCCGACCTTGAGCGTGTGGGATCAGGGCTGGGCGCCCACCTCTCCGAACGGCAGAGAGCCCGTCCCCAGCGTGGGGGTTGGCGGGACGGGCTAGCTGCCGTGGCGGGGCTGGGGCTTTCCCGAATGGCGCGCCCAGGACGGCTCTTGCGGCTGGCTGTCCAAACTGGGCCCGCGTCCTGAAGTGACCCCAGCCTGATCTCGGCCAGCTGCTTGTGACCTTGGCCTGTCCCAGCACCCTTGGTCACTTCGGTCTGATCCCCGGCTCAGGATCCAGGAACACCCTCTCCTGAGAGCGAATCACGGTCTAGGGGTCAGCGGCGGAGAGGGATGGGGTGGGTAGTGGGACAGGGTGTGCGTCTGGTGCCCTGCAGGAGGAGGCCATTGCTGGGTGGAGAGGTGGGCGCTGAGAGTCAGATCCCCAGGTAGGGCTGGGTGGTGTCCTGGCAGGCGCTGAGCGGAGATCTTGCAGGCAGTGGCCTTGTCGTCGAAGTCTGGCCTTTCCCGAGGCCGGAAAGTGATGCTGTCAGCGCTGGGCATGCTGGCGGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTGTGAGTGCCAGTGACCTGGAGCTGCACCCCCCCAGCTATCCGTGGTCTCACCGTGGCCTCCTCTCTTCCTTGGACCACACCAGGTGTGCAGCTGGCTGGCTGGCTGGCAGCGGGAGGTTCTGGGTGGAGCTGGTAAGGTGGAATCTTCAGCTTTCCTAACCCTTTCCCTCCCTCCAGCATCCGGAGGGGTTTCCAGGTATATAAGCAGGTGTGCGCCTCCTGCCACAGCATGGACTTCGTGGCCTACCGCCACCTGGTGGGCGTGTGCTACACGGAGGATGAAGCTAAGGAGCTGGCTGCGGAGGTGTGGGGTCTGGGGATGCCTGGGACCCAGGGCTCAGGGCTCCCACTGTTGAGATGGCAGGGTTGTGATGAGGCTCTCGGTGGCAGGTGGAGGTTCAAGACGGCCCCAATGAAGATGGGGAGATGTTCATGCGGCCAGGGAAGCTGTTCGACTATTTCCCAAAACCATACCCCAACAGTGAGGCTGCTCGAGCTGCCAACAACGGAGCATTGCCCCCTGACCTCAGCTACATCGTGCGAGCTAGGTACACGGGCTGCCCATGGGGTGGTGCTGGAGAGATGGGGGAAGGGCTGACTTGTGCTTGGAACTAAGGAGCCATGGATCTGGTCCTAGGCATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGGTGTCACTGCGGGAAGGTCTCTACTTCAACCCCTACTTTCCTGGCCAGGCCATTGCCATGGCCCCTCCCATCTACACAGATGTCTTAGAGTTTGACGATGGTAAGAGGCCTCCAGTCTGGCAGTGGGCATGTGGAATACTTCTCCACTACCCCCAGGGATGCTTTCCCTGTGTTCCTGGGTCCAGGAGGTCCTGCCCACTTCTTGTCTGGGGCGTCTTCTGTGCATGTCTCAGGAGGCTTTTGGGCTCCTTCAGTTTTGCGTATGTCCGGTGGAGGGTACTGCCCCTTTGATGCCTTGGGTAGGGGCAGTGTCTGCTTCACAGAGGGGGGGCATGATCCCAGGTTGGACATGAGCCTGAGAATAGCCCTCACTGCTTGTCGTTGGCCAGGCACCCCAGCTACCATGTCCCAGATAGCCAAGGATGTGTGCACCTTCCTGCGCTGGGCATCTGAGCCAGAGCACGACCATCGAAAACGCATGGGGCTCAAGGTAAAAGGGTTGGGAGGCCATGGTGGGTATCAGAGAAGGGCTGGGAGCTGGGCAGGGCTCCTCCCCACTCCCTTCTCTGAGCCTTCCTTGTCTGCAGATGTTGATGATGATGGCTCTGCTGGTGCCCCTGGTCTACACCATAAAGCGGCACAAGTGGTCAGTCCTGAAGAGTCGGAAGCTGGCATATCGGCCGCCCAAGTGACCCTGTCCAGTGTCTGCTTGCCATCCTGCCAGAACAGGCCCTCAAGCCCAAGAGCCATCCCAGGCCTGTTCAGGCCTCAGCTAAGCCTCTCTTCATCTGGAAGAAGAGGCAAGGGGGCAGGAGACCAGGCTCTAGCTCTGGGCCCTCCTTCAGCCCCCATCATGGGAATAAATTAATTTTCTCAATGTACATATTTGAGTTATTATATGGAAAGAGTGCACGTTTGCAAGGAACTCTGATACCAAGACCCTTGCCTTCACAAGGCTCCCAGGATGTCCCATGCAGTGTGGCCAGCAATGCCCTGCACTGACTGGTAGCTGGGAGTCCAGACAGTGGGTGTGGGACAGAAAGCGGAGAACTGCATGTTAGAGGAAGTCAGCATTTGGTGGGGTGGGGTGTGTCTGAGCACAGAGCTGAAAAGGGCCTAGCCAGGCAGGATGTGGCCCAGGGACCTGTTGGAATGAACAGCCAAGTGTTAAGGTGTTGAACCACTTGGCCCCCATTCTGATGGCAGCAGGGAACCTTGGCTGCATTTTAACAGGGGAAAGGCCTGGTCTAGGGCAGGGGCTATTTATTGCTGGGCTGGGCTGAGGAAGGGGATGGCTCCCAGCCAGGTGAAGGAGTCAAGTAGACAGACAGGATGTGTGTCATGGAGTGGCCCCTCCTAGCAGTCCACAGGGTAGCTAGGTGGTGGGTCCTGGCCAGAAGCTGGCAGTAGCTGGGTTCCCACAGGAGCATGCTGCTGAGGGAGGGAGACAGTGGATGCTATCTAGGAGGGTCACAGAGACATGACCCAGCACCGGCCCAGTGACCTGGTGCAGGACTCAGCTCCTGAGCTTCCCTCGTCCCTAGGAAGGGAAGGAAAACACCCATTTTCATTGCTGGTGTCCTAGCTGCAAGAGCTGAGGGGAGTGGTGGCCATAGTCCAAGGAAGGCAAGAGCTGAATGGGAGAAAGGTGGTACCAATAGGCCTGCAGGCAAGAGAGGTGCAGGCCTGGGGGACCAGGGTGGACAGTAGGAGACAAGGTCAGTGGTGGGGGCTGCAGCTCAGTATGTGGCACACCCCAGCAGCCTCAGCCCAGTGGTGAGCAGCTGGGTGGGGGGCTCTGTAGGCCTCTGGGGTCTGGGAAGAGATCCCCATGCCATGCTTTCCTGACCACTGAGGCTCAGGGTCCGGGCCCATTCTTCAGTAACACCGGGGTCTGGCTGGGGAGCCCCGCCTGCTGATGAGGGCCTGTCTCCCTGTATCGCTGGCTAGGATGGGGCAGGTCTGCAGAGACACCATGAAAGGGATGCTTGCTGGCTCTTAAGGGTCTTTAATGGTTTCATTTTGTGGCCCTTCCCCCCAACCCTGGTGACTGTCCCAGCAAGCAGTCAGTAGAGGTCCCCGGAGTTCAGTGGGGGCCTGGAGATGTCGGACTTGTGAGGGAAGGGCCACTCTCCCCTTGTAACCTGTGGGGGAGGAGCTGGGTC | GCCCTTTCTCTGGAGGTCCTCAGCCTGCAGGGGCACCCTCCACCCGGCCATCGCGCAGCCTGGGAAGGTGGAGAAAAGGAGCGTCGGGGTCTCGGAGGCGGCGTGGGAAACGCCGGGCGGAGCGTGGCGCTGTCACGGCAACAGAGAGACGCGACGGGGCCCCGCCCCACCGCCAGTTTCCACGACAACCCGAAGAGCGTGGGGAGGCAGGCGGTGCCCCGGCCCCTGACTGACGCGACCGGGACCAGCGCGCTTCGTCCCCGCCCACCCGACAGGCCCCGCCCCCGAGCCCGGCCCCGCCCCGCGCTCCCCGGCTTTCGCGAGGTTTTGACTCTCGTGGCGCCCCAGGGGCCGACGGGAGTGGCGGCCGCGCGGAGGAGGCCAAGATGGCGGCAGCTGCGGCTTCGCTTCGCGGGGTAGTGTTGGGCCCGCGGGGCGCGGGGCTCCCGGGCGCGCGTGCCCGGGGTCTGCTGTGCAGCGCGCGTCCCGGGCAGCTCCCGCTACGGACACCTCAGGTGAGCGCTGGGCCGGGCCCCGGCCTCCGCGCGGCCCCGCATCTCCGTGAAGGTCACGGCGGGGAGGCTGCGGGCGCGGGCCTGGGCAGCGCGGAAGCGGTACCGGCCACCCAGCGTCCCCGGTCCCAGCTGCCTGCCGACCTTGAGCGTGTGGGATCAGGGCTGGGCGCCCACCTCTCCGAACGGCAGAGAGCCCGTCCCCAGCGTGGGGGTTGGCGGGACGGGCTAGCTGCCGTGGCGGGGCTGGGGCTTTCCCGAATGGCGCGCCCAGGACGGCTCTTGCGGCTGGCTGTCCAAACTGGGCCCGCGTCCTGAAGTGACCCCAGCCTGATCTCGGCCAGCTGCTTGTGACCTTGGCCTGTCCCAGCACCCTTGGTCACTTCGGTCTGATCCCCGGCTCAGGATCCAGGAACACCCTCTCCTGAGAGCGAATCACGGTCTAGGGGTCAGCGGCGGAGAGGGATGGGGTGGGTAGTGGGACAGGGTGTGCGTCTGGTGCCCTGCAGGAGGAGGCCATTGCTGGGTGGAGAGGTGGGCGCTGAGAGTCAGATCCCCAGGTAGGGCTGGGTGGTGTCCTGGCAGGCGCTGAGCGGAGATCTTGCAGGCAGTGGCCTTGTCGTCGAAGTCTGGCCTTTCCCGAGGCCGGAAAGTGATGCTGTCAGCGCTGGGCATGCTGGCGGCAGGGGGTGCGGGGCTGGCCATGGCTCTGCATTCGGCTGTGAGTGCCAGTGACCTGGAGCTGCACCCCCCCAGCTATCCGTGGTCTCACCGTGGCCTCCTCTCTTCCTTGGACCACACCAGGTGTGCAGCTGGCTGGCTGGCTGGCAGCGGGAGGTTCTGGGTGGAGCTGGTAAGGTGGAATCTTCAGCTTTCCTAACCCTTTCCCTCCCTCCAGCATCCGGAGGGGTTTCCAGGTATATAAGCAGGTGTGCGCCTCCTGCCACAGCATGGACTTCGTGGCCTACCGCCACCTGGTGGGCGTGTGCTACACGGAGGATGAAGCTAAGGAGCTGGCTGCGGAGGTGTGGGGTCTGGGGATGCCTGGGACCCAGGGCTCAGGGCTCCCACTGTTGAGATGGCAGGGTTGTGATGAGGCTCTCGGTGGCAGGTGGAGGTTCAAGACGGCCCCAATGAAGATGGGGAGATGTTCATGCGGCCAGGGAAGCTGTTCGACTATTTCCCAAAACCATACCCCAACAGTGAGGCTGCTCGAGCTGCCAACAACGGAGCATTGCCCCCTGACCTCAGCTACATCGTGCGAGCTAGGTACACGGGCTGCCCATGGGGTGGTGCTGGAGAGATGGGGGAAGGGCTGACTTGTGCTTGGAACTAAGGAGCCATGGATCTGGTCCTAGGCATGGTGGTGAGGACTACGTCTTCTCCCTGCTCACGGGCTACTGCGAGCCACCCACCGGGGTGTCACTGCGGGAAGGTCTCTACTTCAACCCCTACTTTCCTGGCCAGGCCATTGCCATGGCCCCTCCCATCTACACAGATGTCTTAGAGTTTGACGATGGTAAGAGGCCTCCAGTCTACTACCCCCAGGGATGCTTTCCCTGTGTTCCTGGGTCCAGGAGGTCCTGCCCACTTCTTGTCTGGGGCGTCTTCTGTGCATGTCTCAGGAGGCTTTTGGGCTCCTTCAGTTTTGCGTATGTCCGGTGGAGGGTACTGCCCCTTTGATGCCTTGGGTAGGGGCAGTGTCTGCTTCACAGAGGGGGGGCATGATCCCAGGTTGGACATGAGCCTGAGAATAGCCCTCACTGCTTGTCGTTGGCCAGGCACCCCAGCTACCATGTCCCAGATAGCCAAGGATGTGTGCACCTTCCTGCGCTGGGCATCTGAGCCAGAGCACGACCATCGAAAACGCATGGGGCTCAAGGTAAAAGGGTTGGGAGGCCATGGTGGGTATCAGAGAAGGGCTGGGAGCTGGGCAGGGCTCCTCCCCACTCCCTTCTCTGAGCCTTCCTTGTCTGCAGATGTTGATGATGATGGCTCTGCTGGTGCCCCTGGTCTACACCATAAAGCGGCACAAGTGGTCAGTCCTGAAGAGTCGGAAGCTGGCATATCGGCCGCCCAAGTGACCCTGTCCAGTGTCTGCTTGCCATCCTGCCAGAACAGGCCCTCAAGCCCAAGAGCCATCCCAGGCCTGTTCAGGCCTCAGCTAAGCCTCTCTTCATCTGGAAGAAGAGGCAAGGGGGCAGGAGACCAGGCTCTAGCTCTGGGCCCTCCTTCAGCCCCCATCATGGGAATAAATTAATTTTCTCAATGTACATATTTGAGTTATTATATGGAAAGAGTGCACGTTTGCAAGGAACTCTGATACCAAGACCCTTGCCTTCACAAGGCTCCCAGGATGTCCCATGCAGTGTGGCCAGCAATGCCCTGCACTGACTGGTAGCTGGGAGTCCAGACAGTGGGTGTGGGACAGAAAGCGGAGAACTGCATGTTAGAGGAAGTCAGCATTTGGTGGGGTGGGGTGTGTCTGAGCACAGAGCTGAAAAGGGCCTAGCCAGGCAGGATGTGGCCCAGGGACCTGTTGGAATGAACAGCCAAGTGTTAAGGTGTTGAACCACTTGGCCCCCATTCTGATGGCAGCAGGGAACCTTGGCTGCATTTTAACAGGGGAAAGGCCTGGTCTAGGGCAGGGGCTATTTATTGCTGGGCTGGGCTGAGGAAGGGGATGGCTCCCAGCCAGGTGAAGGAGTCAAGTAGACAGACAGGATGTGTGTCATGGAGTGGCCCCTCCTAGCAGTCCACAGGGTAGCTAGGTGGTGGGTCCTGGCCAGAAGCTGGCAGTAGCTGGGTTCCCACAGGAGCATGCTGCTGAGGGAGGGAGACAGTGGATGCTATCTAGGAGGGTCACAGAGACATGACCCAGCACCGGCCCAGTGACCTGGTGCAGGACTCAGCTCCTGAGCTTCCCTCGTCCCTAGGAAGGGAAGGAAAACACCCATTTTCATTGCTGGTGTCCTAGCTGCAAGAGCTGAGGGGAGTGGTGGCCATAGTCCAAGGAAGGCAAGAGCTGAATGGGAGAAAGGTGGTACCAATAGGCCTGCAGGCAAGAGAGGTGCAGGCCTGGGGGACCAGGGTGGACAGTAGGAGACAAGGTCAGTGGTGGGGGCTGCAGCTCAGTATGTGGCACACCCCAGCAGCCTCAGCCCAGTGGTGAGCAGCTGGGTGGGGGGCTCTGTAGGCCTCTGGGGTCTGGGAAGAGATCCCCATGCCATGCTTTCCTGACCACTGAGGCTCAGGGTCCGGGCCCATTCTTCAGTAACACCGGGGTCTGGCTGGGGAGCCCCGCCTGCTGATGAGGGCCTGTCTCCCTGTATCGCTGGCTAGGATGGGGCAGGTCTGCAGAGACACCATGAAAGGGATGCTTGCTGGCTCTTAAGGGTCTTTAATGGTTTCATTTTGTGGCCCTTCCCCCCAACCCTGGTGACTGTCCCAGCAAGCAGTCAGTAGAGGTCCCCGGAGTTCAGTGGGGGCCTGGAGATGTCGGACTTGTGAGGGAAGGGCCACTCTCCCCTTGTAACCTGTGGGGGAGGAGCTGGGTCNNNNNNNNNNNNNNNNNNNNNNNNNNN | benign | 140,559 |
Mutation found at chromosome 8 position 144318305, gene DGAT1 (diacylglycerol O-acyltransferase 1): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Congenital_diarrhea_7_with_exudative_enteropathy'] | CACCAGGCCCCAGGCCCCTGGCAGGCTGAAGAGGTCACTGGACAGCACTTTATTGACACCCTCGGACCCGGGGCAGGGTCAGCAAGACTCCCAGCTGGCATCAGACTGTGTCTGGCCTGCTGTCGCCATCCCTGAGGGGTGCAGGACAGAGCCCCATAGGGGCAGAGAGGCCTCCCTGGGACCAGAGGAGGATGCTGTGCAGCCAGGCCCATCCCCAGCACTCGAGGCCTAGGAGGAGAGGTGGGCTCTGGCAGCGGGTGTGAGGTGGCAGTGAGAAGCCAGGCCCTCAGGTGCAGCTCAGGCCTCTGCCGCTGGGGCCTCATAGTTGAGCACGTAGTAGTCGTGGACGTACATGAGGACGGCTATTGGCTGTCCGATGATGAGCGACAGCCACACAGCTGCGTTGCCATAGTTGCCCTGGAAAAAGCGGCCCACGAACCAGGCCAGTGGGATCTAGGGAGTGAGGGGCCAAGTCAGTCGGCCATGGTGACCACAGGGCTGGGGGCTTCAGGGTCCCTGGGCATGGGGAGGGTCAGCCGAGGGGTTCAGGTGCGGGGTAACTGGGCGAGTGAGGAGGCCACGTGGGGGTCACTCACCTGAGCCATCATGCCCGTGAACGCCCAGAGGCGGAACATTCGCAGAGGGACGCTCACCAGGTACTGAGATGGGAGGGAGAGAGGATGCCAGGGAGTGGGGTGTCAGCCGTCCCTGCTGTGGGCATACCCCTGCCCAGGGATGAGGCAAGATGCCCCCCAGAGCACTGACCTCGTGGAAGAAGGCCGAGGCCAGGAACACCCCTGTCCTGGCCATCCACTTGCTGCTGCCCCGTCGAAGCATGGGCTTGTAGAAGTGTCTGCAGAGGAGGGGGCATGGAAAGCGGTTCAGGTTCACAGCCATGTTCCACATCACACACACACACACCCCACCTACCTGATGCACCACTTGTGCACAGGGATGTTCCAGTTCTGCCAGAAGTAGGTGACAGACTCGGAGTTCCTGGGGGCCAAGAGACCACAGGGGGATCAGAGCACACCATGGCCCATCCCAGCCCCCAGGGACACCCCAGGGACACTCACCACCAGTCCCGGTAGAACTCCCGGTCTCCAAACTGCATGAGCTCAGCCACGGCATTCAGGCAGGAGTGGAAGAGCCAGTAGAAGAAGATGAGCCAGATGAGGTGATTGGGGACCTGGCAGGGAGGTGGGGGTGGGCACCAAGTTCTAGAACCTTCCCCCACATGCCACTGTCCCCTCCTGTCCTGTGCATGCGCCACCTGTCCGCACTCACCGCCAGCTTCAGGAGGCGCTCGATGATGCGTGAGTAGTCCATGTCCTGCAGAAACAAGCCCTTCAGCTAGCCATGCTCCTGGTCACTCCCCAGCCACCCCAGCTGCAAGAGCACCTGAGCCACTCACCTTGAAGGGCTTCATGGAGTTCTGGATGGTGGGGACCATCCACTGCAAAGGAGGGCACCACGTCAGCTCCCAGCCATGCCCAGCTACACCCAACCCTGCCCTACCCCACTTACCTGCTGGATCAGCCCCACCTGGAGCTGGGTGAAGAACAGCTGGGGGGGAAACAGAGAGCAGCCAGCTGAGGCCCTGGCTAGCCAGAAGGCCCCCTAGCCTCCAGTGGCTGCCCCCAGCCCCCAACCTCACCATCTCAAGGATCCGTCGCAGCAGAAAGCGCTTCCGGATGCGGGGAGAGCGGGGAAAGTTGAGCTCGTAGCACAAGGTGGGGGCGAAGAGGAAGTAGTAGAGATCTGGAATGGGAATGGGGGGTTGGTACCAGAACAGGCCCAGCCTGTCCCCCGCACCTCAGGCCCACAGAGGTCCTCACCGCGGTAGGTCAGATTGTCCGGGTAGCTCACGGTGTGCGGGGCAGCAGCACTGCTGGCCTTCTTCCCTGCAGAGGCTACGAGCACAGCAGAGTGGGAGGGGGCTGGTGGGGCCCTGCTGCTGCCCAGCCCCCCAGCAGGCAGCCCCAGCCCCTGGCAGCCCCTCACCAGCCTTGGCCCTGGCCCTGCGGCACCATGAGTTGACGTCGCGGTAGGAGAAGAGCTTGAGGAAGAGGATGGTGTGCGCCATCAGCGCCAGCAGGGAGCCCACTGCAGGAGAGGTGGACTCAGGCCTCCACAGCGCCACAGCCGGAGGCCATGCCCGTGGCTGGCCCGAGACAGATGGGCAGGGTGGGATGGGGGCGCACCTGGAGTGATAGACTCAACCAGTAAGACCACAGCCGCTGGGAAACACAGAATGGTGGCCAGGTTGGCCACGTGCAGCAGCAGTCCCGCCTGCTCCGTCAGGGCACCCTGGAGTGGGGAGCAGAGCACTCAACCAGGGCTCCCATTGCCTGGGAGAGGGCTGCCAGGCCTGGGGAGCAGCTCCTCCCAGGAGCGCACACAGCAGGGTGAGCACACACGGAGGTGAGGGGCACTGCTTACCACCGCCAGGCGCTTCTCAACCTGGAATGCAGCCACAGCAAAGACATTGGCCGCTGTGGACAGAAGCACCAAGGGGCAGGTTTAGGGCCACGTCAGCCTGATCCCCACCCGAGGCCCTCCTCAGAGCCCAGCTCACCAATAACCAGGCATGGGGCGGGCCAGCTATAGGGATCCTTCAGGAACAGAGAAACCACCTGGATGGGGTCCACCAGGATGCCATACCTGGGGGTGGAGGGATGGGGGTCTGAGTGGGTGGCAGGTGGGGCTGTGGGGCGGGGCCTGGACAGGCCATGGGTGGGGCAGGGGTGGGACCTGGCAAAGGCACTCACTTGATGAGGTTCTCCAGAAATAACCGGGCATTGCTCAAGATCTGCGAGGGATGGACAGGAGGGTGCAGCCCCTTTAGTCCTGGCCACAGGGTACTCACCCCAGATCCTCCCAACACCTCTGGGCACGTCCCAGCCCGAGCTCAGGGCGGCAGCCTCAGGCTTGCAGACCCAGCCCTGTCTGGTCTCCATGCCAAGCTCTGAGACTCAGCACCCACCTCAGCCAACACCAGTGCTGGGTAAGGGGAAGTCCCTCCCTGTCCCCATCACACCAGACGGTCCCACATGGAGGGAACCAACCGGCCAGACCAACCAACCCTGCCAGACGCCTGGGTCTTCAGGAGCAGAAAGACCAGCTGCTGATCTGCTCACATCCCTCCTGCTGAGCCGAGCCAGTGAGGGACCCAAGGCTCCCACAGCCAACCACACCCCAGAGACAGCCCCAGAATACAGGCCTGCCCAGGGAGGCCTGCCCACGGCTGAGCCCCAAGGAACCAGTCCCTACTGGTGGCCAAGGCTGAAGAGGGGGAGTTGTCTACTCTTTCTCTGCAGGAGCAGTGTCCAGCTGTGTCGCAAGGGGGGCTGGGCCTGGAGTGCTTCCCAGGGCTTGTGCCCCGCCTGCCTCTTCTGCTTCCTGCCGCCCTCTAAGCCTTGGACACTTGGCTCCAAAGCAACTTCCCAGGACTGAGCCCCCATGGAATAAGGCTCTTGGGACGAGCCTGGAGTTGGGTGCTTGGCCTCCCTCTGCAAGGACAGGAACCTCCTCCTCCATCTTACAAGCACTACCAACACCTCCATTAAGCTGGGCCCCAATGCCGCAGACCTGGCTGACCACCCGGAGCTCGGGCCTCATGCGGTAGTGAACTGGTGCTGGGGAAAAGGGTCGCTGGCAAGGGAACACTGAGGGTGTCTTGCCTGGGTGGTCAGGGAAGGCTTCATGAGAGAGAAGACTGCTTCAGAGACACAAGGGCTACTGCCCCGCCTCCCCCGGCCGCAGGGCTGACACACAGGCCTTCTGCATGGACACGTGGCCCACACTGTCACTGGCCTCTCCCGAGGGCTGACAGCAGGCAGAAGCCAAAGCTGCCAATGGACGGTACCCACCTCCAGGCCCAGGCCACAGAAGGAATGCAACAAGCAGCCCAGAGCGGGATACATGCCTGGGGTGGGGGCATGGGGGAGCCAAAGCAGGGAAAAGGCTTCAGGGCTGGGCCAAAGGGCCAGGCAGGCCCAAGGGGTTGGGGAGAATACACAGTGCTGCCTGGGCTGGACAAGGCCCAACCTGGGCCAGGAATGGGCTGCGTCTCCTGAGTGCTGGGCTGGCGCTG | CACCAGGCCCCAGGCCCCTGGCAGGCTGAAGAGGTCACTGGACAGCACTTTATTGACACCCTCGGACCCGGGGCAGGGTCAGCAAGACTCCCAGCTGGCATCAGACTGTGTCTGGCCTGCTGTCGCCATCCCTGAGGGGTGCAGGACAGAGCCCCATAGGGGCAGAGAGGCCTCCCTGGGACCAGAGGAGGATGCTGTGCAGCCAGGCCCATCCCCAGCACTCGAGGCCTAGGAGGAGAGGTGGGCTCTGGCAGCGGGTGTGAGGTGGCAGTGAGAAGCCAGGCCCTCAGGTGCAGCTCAGGCCTCTGCCGCTGGGGCCTCATAGTTGAGCACGTAGTAGTCGTGGACGTACATGAGGACGGCTATTGGCTGTCCGATGATGAGCGACAGCCACACAGCTGCGTTGCCATAGTTGCCCTGGAAAAAGCGGCCCACGAACCAGGCCAGTGGGATCTAGGGAGTGAGGGGCCAAGTCAGTCGGCCATGGTGACCACAGGGCTGGGGGCTTCAGGGTCCCTGGGCATGGGGAGGGTCAGCCGAGGGGTTCAGGTGCGGGGTAACTGGGCGAGTGAGGAGGCCACGTGGGGGTCACTCACCTGAGCCATCATGCCCGTGAACGCCCAGAGGCGGAACATTCGCAGAGGGACGCTCACCAGGTACTGAGATGGGAGGGAGAGAGGATGCCAGGGAGTGGGGTGTCAGCCGTCCCTGCTGTGGGCATACCCCTGCCCAGGGATGAGGCAAGATGCCCCCCAGAGCACTGACCTCGTGGAAGAAGGCCGAGGCCAGGAACACCCCTGTCCTGGCCATCCACTTGCTGCTGCCCCGTCGAAGCATGGGCTTGTAGAAGTGTCTGCAGAGGAGGGGGCATGGAAAGCGGTTCAGGTTCACAGCCATGTTCCACATCACACACACACACACCCCACCTACCTGATGCACCACTTGTGCACAGGGATGTTCCAGTTCTGCCAGAAGTAGGTGACAGACTCGGAGTTCCTGGGGGCCAAGAGACCACAGGGGGATCAGAGCACACCATGGCCCATCCCAGCCCCCAGGGACACCCCAGGGACACTCACCACCAGTCCCGGTAGAACTCCCGGTCTCCAAACTGCATGAGCTCAGCCACGGCATTCAGGCAGGAGTGGAAGAGCCAGTAGAAGAAGATGAGCCAGATGAGGTGATTGGGGACCTGGCAGGGAGGTGGGGGTGGGCACCAAGTTCTAGAACCTTCCCCCACATGCCACTGTCCCCTCCTGTCCTGTGCATGCGCCACCTGTCCGCACTCACCGCCAGCTTCAGGAGGCGCTCGATGATGCGTGAGTAGTCCATGTCCTGCAGAAACAAGCCCTTCAGCTAGCCATGCTCCTGGTCACTCCCCAGCCACCCCAGCTGCAAGAGCACCTGAGCCACTCACCTTGAAGGGCTTCATGGAGTTCTGGATGGTGGGGACCATCCACTGCAAAGGAGGGCACCACGTCAGCTCCCAGCCATGCCCAGCTACACCCAACCCTGCCCTACCCCACTTACCTGCTGGATCAGCCCCACCTGGAGCTGGGTGAAGAACAGCTGGGGGGGAAACAGAGAGCAGCCAGCTGAGGCCCTGGCTAGCCAGAAGGCCCCCTAGCCTCCAGTGGCTGCCCCCAGCCCCCAACCTCACCATCTCAAGGATCCGTCGCAGCAGAAAGCGCTTCCGGATGCGGGGAGAGCGGGGAAAGTTGAGCTCGTAGCACAAGGTGGGGGCGAAGAGGAAGTAGTAGAGATCTGGAATGGGAATGGGGGGTTGGTACCAGAACAGGCCCAGCCTGTCCCCCGCACCTCAGGCCCACAGAGGTCCTCACCGCGGTAGGTCAGATTGTCCGGGTAGCTCACGGTGTGCGGGGCAGCAGCACTGCTGGCCTTCTTCCCTGCAGAGGCTACGAGCACAGCAGAGTGGGAGGGGGCTGGTGGGGCCCTGCTGCTGCCCAGCCCCCCAGCAGGCAGCCCCAGCCCCTGGCAGCCCCTCACCAGCCTTGGCCCTGGCCCTGCGGCACCATGAGTTGACGTCGCGGTAGAAGAGCTTGAGGAAGAGGATGGTGTGCGCCATCAGCGCCAGCAGGGAGCCCACTGCAGGAGAGGTGGACTCAGGCCTCCACAGCGCCACAGCCGGAGGCCATGCCCGTGGCTGGCCCGAGACAGATGGGCAGGGTGGGATGGGGGCGCACCTGGAGTGATAGACTCAACCAGTAAGACCACAGCCGCTGGGAAACACAGAATGGTGGCCAGGTTGGCCACGTGCAGCAGCAGTCCCGCCTGCTCCGTCAGGGCACCCTGGAGTGGGGAGCAGAGCACTCAACCAGGGCTCCCATTGCCTGGGAGAGGGCTGCCAGGCCTGGGGAGCAGCTCCTCCCAGGAGCGCACACAGCAGGGTGAGCACACACGGAGGTGAGGGGCACTGCTTACCACCGCCAGGCGCTTCTCAACCTGGAATGCAGCCACAGCAAAGACATTGGCCGCTGTGGACAGAAGCACCAAGGGGCAGGTTTAGGGCCACGTCAGCCTGATCCCCACCCGAGGCCCTCCTCAGAGCCCAGCTCACCAATAACCAGGCATGGGGCGGGCCAGCTATAGGGATCCTTCAGGAACAGAGAAACCACCTGGATGGGGTCCACCAGGATGCCATACCTGGGGGTGGAGGGATGGGGGTCTGAGTGGGTGGCAGGTGGGGCTGTGGGGCGGGGCCTGGACAGGCCATGGGTGGGGCAGGGGTGGGACCTGGCAAAGGCACTCACTTGATGAGGTTCTCCAGAAATAACCGGGCATTGCTCAAGATCTGCGAGGGATGGACAGGAGGGTGCAGCCCCTTTAGTCCTGGCCACAGGGTACTCACCCCAGATCCTCCCAACACCTCTGGGCACGTCCCAGCCCGAGCTCAGGGCGGCAGCCTCAGGCTTGCAGACCCAGCCCTGTCTGGTCTCCATGCCAAGCTCTGAGACTCAGCACCCACCTCAGCCAACACCAGTGCTGGGTAAGGGGAAGTCCCTCCCTGTCCCCATCACACCAGACGGTCCCACATGGAGGGAACCAACCGGCCAGACCAACCAACCCTGCCAGACGCCTGGGTCTTCAGGAGCAGAAAGACCAGCTGCTGATCTGCTCACATCCCTCCTGCTGAGCCGAGCCAGTGAGGGACCCAAGGCTCCCACAGCCAACCACACCCCAGAGACAGCCCCAGAATACAGGCCTGCCCAGGGAGGCCTGCCCACGGCTGAGCCCCAAGGAACCAGTCCCTACTGGTGGCCAAGGCTGAAGAGGGGGAGTTGTCTACTCTTTCTCTGCAGGAGCAGTGTCCAGCTGTGTCGCAAGGGGGGCTGGGCCTGGAGTGCTTCCCAGGGCTTGTGCCCCGCCTGCCTCTTCTGCTTCCTGCCGCCCTCTAAGCCTTGGACACTTGGCTCCAAAGCAACTTCCCAGGACTGAGCCCCCATGGAATAAGGCTCTTGGGACGAGCCTGGAGTTGGGTGCTTGGCCTCCCTCTGCAAGGACAGGAACCTCCTCCTCCATCTTACAAGCACTACCAACACCTCCATTAAGCTGGGCCCCAATGCCGCAGACCTGGCTGACCACCCGGAGCTCGGGCCTCATGCGGTAGTGAACTGGTGCTGGGGAAAAGGGTCGCTGGCAAGGGAACACTGAGGGTGTCTTGCCTGGGTGGTCAGGGAAGGCTTCATGAGAGAGAAGACTGCTTCAGAGACACAAGGGCTACTGCCCCGCCTCCCCCGGCCGCAGGGCTGACACACAGGCCTTCTGCATGGACACGTGGCCCACACTGTCACTGGCCTCTCCCGAGGGCTGACAGCAGGCAGAAGCCAAAGCTGCCAATGGACGGTACCCACCTCCAGGCCCAGGCCACAGAAGGAATGCAACAAGCAGCCCAGAGCGGGATACATGCCTGGGGTGGGGGCATGGGGGAGCCAAAGCAGGGAAAAGGCTTCAGGGCTGGGCCAAAGGGCCAGGCAGGCCCAAGGGGTTGGGGAGAATACACAGTGCTGCCTGGGCTGGACAAGGCCCAACCTGGGCCAGGAATGGGCTGCGTCTCCTGAGTGCTGGGCTGGCGCTGNNN | pathogenic | 140,586 |
Variant on chromosome 8, at position 144326631, affecting DGAT1: is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Congenital_diarrhea_7_with_exudative_enteropathy'] | GACCCGACCTCCACGGCAGGGACAGGGACTCACCAGGCCTCTCCCACGAGCTCTGCACCCATCCCACACCAGCAGAAGTACAGGAAAGCCTTGCTGGTTTGCAAAGCAAGAAGGTGACTGCTCTCCCCTGCCTACCCCCAGGTGGCGGCTTGGCCCAAAGCTGGGACTACCCTCATCTCACACTAAAAAAAATCTCAATTCCCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGGCGCCTCTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGAATGTGCCATTTTACTCCAGCCTGGGCAACAAGAGCAAAACTAGTCTCAAAAAAAAAGAAAAGAAAAAAAAAGAAATCTCAATTCCCACGTCCTCCACAGGTCATGTAGCCATCCCCCTGCCTCCTGGAGAGAGGGTAACTCCAGGAGCCACACCTCCTTTTCAGGTAGGAGGTGCCTAGGCCAGCCTCCCTCACCAGCACCCCAGGCCCACAGCAGGCAAGCACCCCTCTCAGGAGGGCCACCCTCCTCCCCACGGCCCCTTCAAGGCCTCCGTGCCCGACCTTTGTCCATGTTGCTCCATGCCTGACTCTCGCTGAGGTTATCTTATCTCCCAGATGAACTGAGCACCCTGAGGGCCACGACAGTGCCTGCCCTCCCCCAACCCCCTCCCCATGGTGCCCCGTGAAGGAAAGCTCTGTTCTTGCTCACTGAGAGAGCAAATCATTGCCAACTACATGTCCAAAATCAGCCCACTTCTGCCTTGATAACCTCTAGGCCCTCAGCTGCTCTCTAAAACAAAGCCCTGAGGGCCCCTGGGCCAGGGTAAAGGCCATAAAGGGGGGATGGAGGGTGGCAAGGGGATTGCTCAAGGCCAGCTTGGTGGAGGAAGCCAATGCCCAGGCTGGCCAAGTCCTTCCCATCGGCCATGGTTCTCTCCCTCCACCCCTCTCTGTCAGTCATCCAGCTGAGCAGGGCACACGCCTGCAGGTGTGTCCACCACCCCCATACCCCACTCCCCACCTGGAGGATGGAAGTCCCAACACAGAACCCAACTCTCTGTCCCTACAACAGACGCTGGCTCTGGCAACATCGGCAGGGCTCCAGGCCAGCCTAACCACTGGAGCAATGAATGGGCCACGCAGCCACTCTCAGAAGGGTCTGCAAGGACAAGAACGCCTCTAACACTGCCCCTTGTCCGGGGCAGCTGCTGATTCCCCTGTCCTCGGACAGGCCTGGGCTCCTCTGGCCCCCTCCCTGGCAGGCCAGCCCTCCTCTGGGAGCCTTTCCTACCCGCAAGGCACCGCTCATAGCACCAAGAAGGAACCTATCACCACAAACTGCCCAGATCTTATCTGACTCCTTCCATATAAGGGGACACTGTCCAGGGCCGGGCCCCCACCAGCCCGCCCCTCGAAAAGCTCCTCAGGAGCCCCTGAGGATGCACAGACCCAAGAGGATCTGGATGCGGGACACCTGCCGGCTCCCCTCTGCCTGGCCAAGGCCAGCTCCAGAGCCCCTACCCAGTGACCTTGTCAGGTGACTCTCCCCAAGCCTCAGTTTCCCCACAGGGCCCATAGGGCACACCGATCCCCGCTTAGCCCAGGGCCCATGTTCTCGGACTCGGAGCTCGCGCTTCGGCCAACCCCGGAAAGTCGCGGGGCCCTTGGGTCAGAGGTTAGGGGGTCAGGCGCTCCGCTACCTCAGCTCCCAGTGGCCGCTGCCCACGCCGGCGTCTCCGTCCTTGTTGGGGGCCGGGGCTGGCGCGTCCCCCGCGGCTCCCACGTCGGGGCCCGCAGCGGCGTCCCGCACCTCCTCTTCCGCCGCCGCAGGCCCGCCGCCGCCGTGGCTCGAGGGCCGCGACCCTGTCCTCCGGCGCCGGGAGCTGCCGCGGTCGCCCATGGCCTCAGCCCGCACCCGGCCGCAGCCAAGCGTGGGCCCGCCGGGTTCGTAGCGCCCGAGGCGCGCGGCCCCACCTCCGGGCCCTAGACAACGGCCGCCACTGCCCCCTGCCGGCCGCCGTAGCCCGGGTGACCGCCTCACCAGCGCGTTCAACCCGCCCGCGTCGGGCCCGTCGGCCTCAAGGACAACGGCTGCGTTGCTCCGGAGCCGCTAACTAATGGACGGCCGCCTCTCTCGTCCATTTGTAGTCCGCGGCCGACCTGAGGCGGGGCCTGGAGAGGCTGACGGGGCGCAGGGCACCCTGGGAGTCGTAGTCGCCGCGGGCGCGCCGGCGCAGAGCACCCTGGGAGTCGTAGTCGCCGCGGCCGCACCGGCGCAGAGCACCCTGGGAGCCGTGGCAGCTCCCAGGGCCGGGGCTGCGGGCCGCAAGTGCGCGCAGCGGGAACGGACCTTGCATCGCTCCCGCGTGGTCCCGGGGTCCTGTCCGGCCCCACGGAGCGGGATGGTCCGCTGAGGGGTGCGCTGGGCCCCGACTTCCTGGCCGCTGTGCGCCCGCCCCTCGTCCCACTTGTGTACACACGGGGTCTCGGCGAGTCACTCCGGGCAATCATTTAGGAAGCGCCTAGTGCGCCACGGTCCAGCTGTCCGGGCCGGTGTCCGCGGCGGCTCGCGTCGCCCGCCACCCAGCGCGTTGGTTTCTGCGCACGCAGCTTACAGTAACGTCCCTGGCGCGCTTCTGCTCCGCGAGCCCTCTGGTTACCCCGGCAGGAACCTGCTTTTCTTCGCCTTAGGGGGACGTCAGACAAGGGCCAGGTCAGAAGACCAAGCTGGAGAAATGCACCAGGCCCTGCGTCACCGGGACGCCTGCCTTGCACGCGACTCCCAGGCTCTCCACCTCCCCGCCTGCAGAGCCCGGCGAGAGGAGGGCGAGGGCGAGGGCGAGGGCGCAGGCCCCTTGGTGGTGTCTTCTCAGCCCACCCACTCTCTCCACAAGGAGCTCCACGTCCCTCAACTCTCAGGGCCTCCCAGTTTCCAACGTGGGCCAGCCTCTCCAGGATGTCAGAAGTCTGGGCCGCTGGATCGCCGGGACTCAAGAGGCTTCTGTGCATTTGCACGGCCTGTGCAACCGCCCTGTTGTTTTTTGTTTTCTTTTTTCTTTTTTTGAGACAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTAGCGCGATCTCGTCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCCAGGACTACAGGCGCGTGCCACCACGCCCAGCTAATTTTTCTGTTTTTAGTAGAGACGGGCTTTCACCATATTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGCAAGCCACCGCGCCTGGCCTGTTGTTATTTTTTCTAAAGATGGGGGTCTCGCTATTCTGCCCAGGCTGGTCTCGAACTCCTGGCCTCACGCAATCCTCCCACCTCGGCCTCTGAAGGTGCTGGGATTACAGGTATGAGCCACTGCCCCAGACATCTTGTATGTTAAATGAAGCAACTAATCAACTGTAACAGCCACAGTTGCGGCCCACCTTGGCTTGGTGTGCATATTGCACAGGGCATGGAGTGAGAACATCCTGGATCTCAGGATGCCAGGGTTCACTGAGGACTCTGACTCTAGAAACACCTTCATTCCTCTGGGGTGAGCAGGGGCAAGCAGCACTTCTCTGGAAGCAAACAGGTGCTCCTCCTGAGGTGGGGTCCTCTCCCGTGGGCTGGTCACAGCCTCGCCTCTGAGCTCCGTCCTCTTCCACCACCTCCACCAACAGTGGCCAGCAGGGCTGCCCCCTTGGTTGCCCCCCTGGTGACATATTCTTGTCACCACAGGCCGCTGTGGGTTGCTGCCAACCAGGTATCAGGCAGGCTGGAGCTACCTGGCAGATGCCCTTTGTGTAGCCTGCCGAGTGGGGCCGCCCTCACTGGACCCAAGAGCCCCTCACACAT | GACCCGACCTCCACGGCAGGGACAGGGACTCACCAGGCCTCTCCCACGAGCTCTGCACCCATCCCACACCAGCAGAAGTACAGGAAAGCCTTGCTGGTTTGCAAAGCAAGAAGGTGACTGCTCTCCCCTGCCTACCCCCAGGTGGCGGCTTGGCCCAAAGCTGGGACTACCCTCATCTCACACTAAAAAAAATCTCAATTCCCGGCCGGGCGCGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACCTGAGTTCAGGAGTTCGAGACCAGCCTGACCAACATGGAGAAACCCCATCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGGCGCCTCTAATCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGAATGTGCCATTTTACTCCAGCCTGGGCAACAAGAGCAAAACTAGTCTCAAAAAAAAAGAAAAGAAAAAAAAAGAAATCTCAATTCCCACGTCCTCCACAGGTCATGTAGCCATCCCCCTGCCTCCTGGAGAGAGGGTAACTCCAGGAGCCACACCTCCTTTTCAGGTAGGAGGTGCCTAGGCCAGCCTCCCTCACCAGCACCCCAGGCCCACAGCAGGCAAGCACCCCTCTCAGGAGGGCCACCCTCCTCCCCACGGCCCCTTCAAGGCCTCCGTGCCCGACCTTTGTCCATGTTGCTCCATGCCTGACTCTCGCTGAGGTTATCTTATCTCCCAGATGAACTGAGCACCCTGAGGGCCACGACAGTGCCTGCCCTCCCCCAACCCCCTCCCCATGGTGCCCCGTGAAGGAAAGCTCTGTTCTTGCTCACTGAGAGAGCAAATCATTGCCAACTACATGTCCAAAATCAGCCCACTTCTGCCTTGATAACCTCTAGGCCCTCAGCTGCTCTCTAAAACAAAGCCCTGAGGGCCCCTGGGCCAGGGTAAAGGCCATAAAGGGGGGATGGAGGGTGGCAAGGGGATTGCTCAAGGCCAGCTTGGTGGAGGAAGCCAATGCCCAGGCTGGCCAAGTCCTTCCCATCGGCCATGGTTCTCTCCCTCCACCCCTCTCTGTCAGTCATCCAGCTGAGCAGGGCACACGCCTGCAGGTGTGTCCACCACCCCCATACCCCACTCCCCACCTGGAGGATGGAAGTCCCAACACAGAACCCAACTCTCTGTCCCTACAACAGACGCTGGCTCTGGCAACATCGGCAGGGCTCCAGGCCAGCCTAACCACTGGAGCAATGAATGGGCCACGCAGCCACTCTCAGAAGGGTCTGCAAGGACAAGAACGCCTCTAACACTGCCCCTTGTCCGGGGCAGCTGCTGATTCCCCTGTCCTCGGACAGGCCTGGGCTCCTCTGGCCCCCTCCCTGGCAGGCCAGCCCTCCTCTGGGAGCCTTTCCTACCCGCAAGGCACCGCTCATAGCACCAAGAAGGAACCTATCACCACAAACTGCCCAGATCTTATCTGACTCCTTCCATATAAGGGGACACTGTCCAGGGCCGGGCCCCCACCAGCCCGCCCCTCGAAAAGCTCCTCAGGAGCCCCTGAGGATGCACAGACCCAAGAGGATCTGGATGCGGGACACCTGCCGGCTCCCCTCTGCCTGGCCAAGGCCAGCTCCAGAGCCCCTACCCAGTGACCTTGTCAGGTGACTCTCCCCAAGCCTCAGTTTCCCCACAGGGCCCATAGGGCACACCGATCCCCGCTTAGCCCAGGGCCCATGTTCTCGGACTCGGAGCTCGCGCTTCGGCCAACCCCGGAAAGTCGCGGGGCCCTTGGGTCAGAGGTTAGGGGGTCAGGCGCTCCGCTACCTCAGCTCCCAGTGGCCGCTGCCCACGCCGGCGTCTCCGTCCTTGTTGGGGGCCGGGGCTGGCGCGTCCCCCGCGGCTCCCACGTCGGGGCCCGCAGCGGCGTCCCGCACCTCCTCTTCCGCCGCCGCAGGCCCGCCGCCGCCGTGGCTCGAGGGCCGCGACCCTGTCCTCCGGCGCCGGGAGCTGCCGCGGTCGCCATGGCCTCAGCCCGCACCCGGCCGCAGCCAAGCGTGGGCCCGCCGGGTTCGTAGCGCCCGAGGCGCGCGGCCCCACCTCCGGGCCCTAGACAACGGCCGCCACTGCCCCCTGCCGGCCGCCGTAGCCCGGGTGACCGCCTCACCAGCGCGTTCAACCCGCCCGCGTCGGGCCCGTCGGCCTCAAGGACAACGGCTGCGTTGCTCCGGAGCCGCTAACTAATGGACGGCCGCCTCTCTCGTCCATTTGTAGTCCGCGGCCGACCTGAGGCGGGGCCTGGAGAGGCTGACGGGGCGCAGGGCACCCTGGGAGTCGTAGTCGCCGCGGGCGCGCCGGCGCAGAGCACCCTGGGAGTCGTAGTCGCCGCGGCCGCACCGGCGCAGAGCACCCTGGGAGCCGTGGCAGCTCCCAGGGCCGGGGCTGCGGGCCGCAAGTGCGCGCAGCGGGAACGGACCTTGCATCGCTCCCGCGTGGTCCCGGGGTCCTGTCCGGCCCCACGGAGCGGGATGGTCCGCTGAGGGGTGCGCTGGGCCCCGACTTCCTGGCCGCTGTGCGCCCGCCCCTCGTCCCACTTGTGTACACACGGGGTCTCGGCGAGTCACTCCGGGCAATCATTTAGGAAGCGCCTAGTGCGCCACGGTCCAGCTGTCCGGGCCGGTGTCCGCGGCGGCTCGCGTCGCCCGCCACCCAGCGCGTTGGTTTCTGCGCACGCAGCTTACAGTAACGTCCCTGGCGCGCTTCTGCTCCGCGAGCCCTCTGGTTACCCCGGCAGGAACCTGCTTTTCTTCGCCTTAGGGGGACGTCAGACAAGGGCCAGGTCAGAAGACCAAGCTGGAGAAATGCACCAGGCCCTGCGTCACCGGGACGCCTGCCTTGCACGCGACTCCCAGGCTCTCCACCTCCCCGCCTGCAGAGCCCGGCGAGAGGAGGGCGAGGGCGAGGGCGAGGGCGCAGGCCCCTTGGTGGTGTCTTCTCAGCCCACCCACTCTCTCCACAAGGAGCTCCACGTCCCTCAACTCTCAGGGCCTCCCAGTTTCCAACGTGGGCCAGCCTCTCCAGGATGTCAGAAGTCTGGGCCGCTGGATCGCCGGGACTCAAGAGGCTTCTGTGCATTTGCACGGCCTGTGCAACCGCCCTGTTGTTTTTTGTTTTCTTTTTTCTTTTTTTGAGACAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTAGCGCGATCTCGTCTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCCAGGACTACAGGCGCGTGCCACCACGCCCAGCTAATTTTTCTGTTTTTAGTAGAGACGGGCTTTCACCATATTGGCCAGGCTGGTCTCGATCTCCTGACCTCGTGATCCGCCCACCTCGGCCTCCCAAAGTGCTGGGATTATAGGCGCAAGCCACCGCGCCTGGCCTGTTGTTATTTTTTCTAAAGATGGGGGTCTCGCTATTCTGCCCAGGCTGGTCTCGAACTCCTGGCCTCACGCAATCCTCCCACCTCGGCCTCTGAAGGTGCTGGGATTACAGGTATGAGCCACTGCCCCAGACATCTTGTATGTTAAATGAAGCAACTAATCAACTGTAACAGCCACAGTTGCGGCCCACCTTGGCTTGGTGTGCATATTGCACAGGGCATGGAGTGAGAACATCCTGGATCTCAGGATGCCAGGGTTCACTGAGGACTCTGACTCTAGAAACACCTTCATTCCTCTGGGGTGAGCAGGGGCAAGCAGCACTTCTCTGGAAGCAAACAGGTGCTCCTCCTGAGGTGGGGTCCTCTCCCGTGGGCTGGTCACAGCCTCGCCTCTGAGCTCCGTCCTCTTCCACCACCTCCACCAACAGTGGCCAGCAGGGCTGCCCCCTTGGTTGCCCCCCTGGTGACATATTCTTGTCACCACAGGCCGCTGTGGGTTGCTGCCAACCAGGTATCAGGCAGGCTGGAGCTACCTGGCAGATGCCCTTTGTGTAGCCTGCCGAGTGGGGCCGCCCTCACTGGACCCAAGAGCCCCTCACACATN | pathogenic | 140,593 |
Variant at chromosome 8, position 144359640, gene SLC52A2 (solute carrier family 52 member 2): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Brown-Vialetto-van_Laere_syndrome_2'] | TGGAGCCAGGGGTAAGGAAGAGAGGGAACCCCTCACCGATTGGGCATAAGCCACTCCAGGGAAGCAAGGAGCTTCTTCTCCGCCTTGACCCCGCCCTTGGCAGGCCGGCCGACCAGCGGGGACGACAGGGTCACGGTGTGCCAGAGCGCGGGTTGGGAAGCGGCCTCCTGCCAGCGGCGGCACACGCGCGCAGCCCTGGGAGGACAGCGTGCTGAGGGTGCCGGCCCCTCCGTAGGCGATGCCCCCCTCTCGCAGCGCAGTAGACACCCCGGCTCAAAGCCGGGCTCCTGGGACTCCAACTGGGCGCCTAAGGGGCTGCGCTCTCGGACTGAGCGGTGCGCGCTCCGATGCTTTCGCCCTCCGCCCCCGCCCGGGCCACCGCTCGGACCACGTCTGGCCCAAGCCGCTACGCTCGGCGGCGGGCCCGGCACCAGCGTTACCTGCCCAGGAAGGGCATGGGGCCGTCCGCCGCCACCAACAACCCGAAAATCTGCACCAGGATTTCCAAGGGAATGCGGTCTCCCCAGCCCGCGTCGGGCCCTTCCTCGGGCGTGGGCGTGGGTGCCGGTGCGGGTGCGGGCGCGGCCGCCGCCTCGGACCTGAGCCCGGCCTTGGGCTTGGCCGCGGCGCTGGGGCCCCGGGGCGGCTGCCGGGGAGTGCGGCGGGAAGCGCGCCGCTGTGCGCGGGGCCGGGCGGGGCCGGGTTCGGACAGCACCAGCAGCATGCTGTCGGACTGCAGCAGGTGGTACCCCGAGCCCCTCGGCGCCAGCCGGTCCCACCACCAGTCCTCGGCCGAGCGGGGCCGCGGCGCTGCCCGGGCTCTGCGTCGGACCTGCCGGGAGGCTGGGGCAGCCATGACCACCGACGGCGCTCGGGGAAGCCCCAGGGAGCGGAACGGGCGAGGCTTATAGACCGACAACCCCCCGGTTCCTCTCAACGCCCGCCCGCCCGCCGACCAGCTTCCGGGGCGGGACTTCCGGTCGTGGGCCATGCCGGGGGCGGGCCCGGAACCGCCACGGGTGAGTCGGGTCGTGGCTGCTGCCGGGTCCTGCGCGCTCCGGACTGAGGTGGCGTCCCTGGGCCGGACGGCGGTGTCCCGGCGTGGCGGGAAGCCGGCACTGGAGCGGGAGCGCACTGGGCGCGGGACCGGGAGGCGCAGGGACCGGACGGCTCCCGAGTCGCCCACCTGACGGTACCGAGAGGGCGGCGCCCCTCCGAGCAGAGCCGTCCCGGCCACTCCCCTGGGATCTGACTTGGCTCTTGCGGTCGCGGGCACCGTGAAGCCCTGGGGTGTGCGTGGCTCCTCCTGGTAGGCGCCCTTTCCCGGCGTCCGGCTTGGGGTGGTGGTGGCGTTGACTCCAGCCCCGCCTCTCCCTGGAGAGGAGGGCTCCACTCGCTCCTTCGGCCTCCTCCCCTGGGGCCGCAGCGACTCGGGCCGGCTTCCTGCTTCCCTGCCTGCCGGCGGTCCCGCTGGGTACGTTTTAGCCAATCCTCCCCATCTGCGCTCCTGCCCGGGGCTCCCCCAGTTCCCCTGGTCTCACCCTGTTCTGACTCCGGCTCTGCATCCTATCTGTTTCTCTGTTTCTTTCAAGCTAGAAGAAGTCTTCACTTCCCAGGAGAGCCAAAGCGTGTCTGGCCCTAGGTGGGAAAAGAACTGGCTGTGACCTTTGCCCTGACCTGGAAGGGCCCAGCCTTGGGCTGAATGGCAGCACCCACGCCCGCCCGTCCGGTGCTGACCCACCTGCTGGTGGCTCTCTTCGGCATGGGCTCCTGGGCTGCGGTCAATGGGATCTGGGTGGAGCTACCTGTGGTGGTCAAAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAGTGGGATCTGGGTGGAGCTACCTGTGGTGGTCAGAGAGCTTCCAGAGGGTGAGTGGGAGGAGGTGCAGGTGTGCCCAGGAAGGTGGGCTTTGGCACTCTTCCTCCCTTGGGCATCATGACCCTGACATGGCCTCCTCCCTTCCCTGCAGGTTGGAGCCTCCCCTCTTACGTCTCTGTGCTTGTGGCTCTGGGGAACCTGGGTCTGCTGGTGGTGACCCTCTGGAGGAGGCTGGCCCCAGGAAAGGACGAGCAGGTCCCCATCCGGGTGGTGCAGGTGCTGGGCATGGTGGGCACAGCCCTGCTGGCCTCTCTGTGGCACCATGTGGCCCCAGTGGCAGGACAGTTGCATTCTGTGGCCTTCTTAGCACTGGCCTTTGTGCTGGCACTGGCATGCTGTGCCTCGAATGTCACTTTCCTGCCCTTCTTGAGCCACCTGCCACCTCGCTTCTTACGGTCATTCTTCCTGGGTCAAGGCCTGAGTGCCCTGCTGCCCTGCGTGCTGGCCCTAGTGCAGGGTGTGGGCCGCCTCGAGTGCCCGCCAGCCCCCATCAACGGCACCCCTGGCCCCCCGCTCGACTTCCTTGAGCGTTTTCCCGCCAGCACCTTCTTCTGGGCACTGACTGCCCTTCTGGTCGCTTCAGCTGCTGCCTTCCAGGGTCTTCTGCTGCTGTTGCCGCCACCACCATCTGTACCCACAGGGGAGTTAGGATCAGGCCTCCAGGTGGGAGCCCCAGGAGCAGAGGAAGAGGTGGAAGAGTCCTCACCACTGCAAGAGCCACCAAGCCAGGCAGCAGGCACCACCCCTGGTCCAGACCCTAAGGCCTATCAGCTTCTATCAGCCCGCAGTGCCTGCCTGCTGGGCCTGTTGGCCGCCACCAACGCGCTGACCAATGGCGTGCTGCCTGCCGTGCAGAGCTTTTCCTGCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGTGCTGGGCAGTGCTGCCAATCCCCTGGCCTGCTTCCTGGCCATGGGTGTGCTGTGCAGGTACACAAGGACCCCCAGCCCCTGTGCGGGTGGAACTCAGGGCTAGGAGCCAGGTCCTGGCGCAGTCAGCCCTGACATTCTGCTCGCTCACTGCAGGTCCTTGGCAGGGCTGGGCGGCCTCTCTCTGCTGGGCGTGTTCTGTGGGGGCTACCTGATGGCGCTGGCAGTCCTGAGCCCCTGCCCGCCCCTGGTGGGCACCTCGGCGGGGGTGGTCCTCGTGGTGAGCACAGGGGGACATGAAGTGGGGTGGGGGGGCGTTGCCCTGGAGCAGGCACATCTCACGCTCAGCTGGTGCTGTGTCCCCCTCAGGTGCTGTCGTGGGTGCTGTGTCTTGGCGTGTTCTCCTACGTGAAGGTGGCAGCCAGCTCCCTGCTGCATGGCGGGGGCCGGCCGGCATTGCTGGCAGCCGGCGTGGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGACCAGCATCTATCACGTGTTCCACAGCAGAAAGGACTGTGCAGACCCCTGTGACTCCTGAGCCTGGGCAGGTGGGGACCCCGCTCCCCAACACCTGTCTTTCCCTCAATGCTGCCACCATGCCTGAGTGCCTGCAGCCCAGGAGGCCCGCACACCGGTACACTCGTGGACACCTACACACTCCATAGGAGATCCTGGCTTTCCAGGGTGGGCAAGGGCAAGGAGCAGGCTTGGAGCCAGGGACCAGTGGGGGCTGTAGGGTAAGCCCCTGAGCCTGGGACCTACATGTGGTTTGCGTAATAAAACATTTGTATTTAATGAGTTGGCATTAATTCTTTGAGCACATCTCTCTGTGTGGATGCTTCCCTGAACTAGAGCCATGGCCTGGCCTGTTTAACAGGCTGCCTCTCCCCAGGCCCTGGGCAGGTCCTTACCCACCACAGGCTGGTCTCACGGATTGTACAGTCATGCCCTCTGAGCCCAGACTACCCCACATTGCTTCTTGGAACTGCCCTGGGCTCTCTGGGCCCACACGAGCTACCAGCTTCGGTGGTCAGAGGAGTAGAGGAGCCTCTTCCCGGCAAGGCCACTGCTCCACGAGCACCTCTCAAGGGCTGAGGGTTAGTCGGATGGGGCTGCGATGTGCCGAGCCCCCTGTCCACCCTTAGCCCTGGAGTGACTGTTTGCCTGCTAGCTTCCCAGGAGTATCCTGCTAGGGATTTACACCAGGGGG | TGGAGCCAGGGGTAAGGAAGAGAGGGAACCCCTCACCGATTGGGCATAAGCCACTCCAGGGAAGCAAGGAGCTTCTTCTCCGCCTTGACCCCGCCCTTGGCAGGCCGGCCGACCAGCGGGGACGACAGGGTCACGGTGTGCCAGAGCGCGGGTTGGGAAGCGGCCTCCTGCCAGCGGCGGCACACGCGCGCAGCCCTGGGAGGACAGCGTGCTGAGGGTGCCGGCCCCTCCGTAGGCGATGCCCCCCTCTCGCAGCGCAGTAGACACCCCGGCTCAAAGCCGGGCTCCTGGGACTCCAACTGGGCGCCTAAGGGGCTGCGCTCTCGGACTGAGCGGTGCGCGCTCCGATGCTTTCGCCCTCCGCCCCCGCCCGGGCCACCGCTCGGACCACGTCTGGCCCAAGCCGCTACGCTCGGCGGCGGGCCCGGCACCAGCGTTACCTGCCCAGGAAGGGCATGGGGCCGTCCGCCGCCACCAACAACCCGAAAATCTGCACCAGGATTTCCAAGGGAATGCGGTCTCCCCAGCCCGCGTCGGGCCCTTCCTCGGGCGTGGGCGTGGGTGCCGGTGCGGGTGCGGGCGCGGCCGCCGCCTCGGACCTGAGCCCGGCCTTGGGCTTGGCCGCGGCGCTGGGGCCCCGGGGCGGCTGCCGGGGAGTGCGGCGGGAAGCGCGCCGCTGTGCGCGGGGCCGGGCGGGGCCGGGTTCGGACAGCACCAGCAGCATGCTGTCGGACTGCAGCAGGTGGTACCCCGAGCCCCTCGGCGCCAGCCGGTCCCACCACCAGTCCTCGGCCGAGCGGGGCCGCGGCGCTGCCCGGGCTCTGCGTCGGACCTGCCGGGAGGCTGGGGCAGCCATGACCACCGACGGCGCTCGGGGAAGCCCCAGGGAGCGGAACGGGCGAGGCTTATAGACCGACAACCCCCCGGTTCCTCTCAACGCCCGCCCGCCCGCCGACCAGCTTCCGGGGCGGGACTTCCGGTCGTGGGCCATGCCGGGGGCGGGCCCGGAACCGCCACGGGTGAGTCGGGTCGTGGCTGCTGCCGGGTCCTGCGCGCTCCGGACTGAGGTGGCGTCCCTGGGCCGGACGGCGGTGTCCCGGCGTGGCGGGAAGCCGGCACTGGAGCGGGAGCGCACTGGGCGCGGGACCGGGAGGCGCAGGGACCGGACGGCTCCCGAGTCGCCCACCTGACGGTACCGAGAGGGCGGCGCCCCTCCGAGCAGAGCCGTCCCGGCCACTCCCCTGGGATCTGACTTGGCTCTTGCGGTCGCGGGCACCGTGAAGCCCTGGGGTGTGCGTGGCTCCTCCTGGTAGGCGCCCTTTCCCGGCGTCCGGCTTGGGGTGGTGGTGGCGTTGACTCCAGCCCCGCCTCTCCCTGGAGAGGAGGGCTCCACTCGCTCCTTCGGCCTCCTCCCCTGGGGCCGCAGCGACTCGGGCCGGCTTCCTGCTTCCCTGCCTGCCGGCGGTCCCGCTGGGTACGTTTTAGCCAATCCTCCCCATCTGCGCTCCTGCCCGGGGCTCCCCCAGTTCCCCTGGTCTCACCCTGTTCTGACTCCGGCTCTGCATCCTATCTGTTTCTCTGTTTCTTTCAAGCTAGAAGAAGTCTTCACTTCCCAGGAGAGCCAAAGCGTGTCTGGCCCTAGGTGGGAAAAGAACTGGCTGTGACCTTTGCCCTGACCTGGAAGGGCCCAGCCTTGGGCTGAATGGCAGCACCCACGCCCGCCCGTCCGGTGCTGACCCACCTGCTGGTGGCTCTCTTCGGCATGGGCTCCTGGGCTGCGGTCAATGGGATCTGGGTGGAGCTACCTGTGGTGGTCAAAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAGTGGGATCTGGGTGGAGCTACCTGTGGTGGTCAGAGAGCTTCCAGAGGGTGAGTGGGAGGAGGTGCAGGTGTGCCCAGGAAGGTGGGCTTTGGCACTCTTCCTCCCTTGGGCATCATGACCCTGACATGGCCTCCTCCCTTCCCTGCAGGTTGGAGCCTCCCCTCTTAACGTCTCTGTGCTTGTGGCTCTGGGGAACCTGGGTCTGCTGGTGGTGACCCTCTGGAGGAGGCTGGCCCCAGGAAAGGACGAGCAGGTCCCCATCCGGGTGGTGCAGGTGCTGGGCATGGTGGGCACAGCCCTGCTGGCCTCTCTGTGGCACCATGTGGCCCCAGTGGCAGGACAGTTGCATTCTGTGGCCTTCTTAGCACTGGCCTTTGTGCTGGCACTGGCATGCTGTGCCTCGAATGTCACTTTCCTGCCCTTCTTGAGCCACCTGCCACCTCGCTTCTTACGGTCATTCTTCCTGGGTCAAGGCCTGAGTGCCCTGCTGCCCTGCGTGCTGGCCCTAGTGCAGGGTGTGGGCCGCCTCGAGTGCCCGCCAGCCCCCATCAACGGCACCCCTGGCCCCCCGCTCGACTTCCTTGAGCGTTTTCCCGCCAGCACCTTCTTCTGGGCACTGACTGCCCTTCTGGTCGCTTCAGCTGCTGCCTTCCAGGGTCTTCTGCTGCTGTTGCCGCCACCACCATCTGTACCCACAGGGGAGTTAGGATCAGGCCTCCAGGTGGGAGCCCCAGGAGCAGAGGAAGAGGTGGAAGAGTCCTCACCACTGCAAGAGCCACCAAGCCAGGCAGCAGGCACCACCCCTGGTCCAGACCCTAAGGCCTATCAGCTTCTATCAGCCCGCAGTGCCTGCCTGCTGGGCCTGTTGGCCGCCACCAACGCGCTGACCAATGGCGTGCTGCCTGCCGTGCAGAGCTTTTCCTGCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGTGCTGGGCAGTGCTGCCAATCCCCTGGCCTGCTTCCTGGCCATGGGTGTGCTGTGCAGGTACACAAGGACCCCCAGCCCCTGTGCGGGTGGAACTCAGGGCTAGGAGCCAGGTCCTGGCGCAGTCAGCCCTGACATTCTGCTCGCTCACTGCAGGTCCTTGGCAGGGCTGGGCGGCCTCTCTCTGCTGGGCGTGTTCTGTGGGGGCTACCTGATGGCGCTGGCAGTCCTGAGCCCCTGCCCGCCCCTGGTGGGCACCTCGGCGGGGGTGGTCCTCGTGGTGAGCACAGGGGGACATGAAGTGGGGTGGGGGGGCGTTGCCCTGGAGCAGGCACATCTCACGCTCAGCTGGTGCTGTGTCCCCCTCAGGTGCTGTCGTGGGTGCTGTGTCTTGGCGTGTTCTCCTACGTGAAGGTGGCAGCCAGCTCCCTGCTGCATGGCGGGGGCCGGCCGGCATTGCTGGCAGCCGGCGTGGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGACCAGCATCTATCACGTGTTCCACAGCAGAAAGGACTGTGCAGACCCCTGTGACTCCTGAGCCTGGGCAGGTGGGGACCCCGCTCCCCAACACCTGTCTTTCCCTCAATGCTGCCACCATGCCTGAGTGCCTGCAGCCCAGGAGGCCCGCACACCGGTACACTCGTGGACACCTACACACTCCATAGGAGATCCTGGCTTTCCAGGGTGGGCAAGGGCAAGGAGCAGGCTTGGAGCCAGGGACCAGTGGGGGCTGTAGGGTAAGCCCCTGAGCCTGGGACCTACATGTGGTTTGCGTAATAAAACATTTGTATTTAATGAGTTGGCATTAATTCTTTGAGCACATCTCTCTGTGTGGATGCTTCCCTGAACTAGAGCCATGGCCTGGCCTGTTTAACAGGCTGCCTCTCCCCAGGCCCTGGGCAGGTCCTTACCCACCACAGGCTGGTCTCACGGATTGTACAGTCATGCCCTCTGAGCCCAGACTACCCCACATTGCTTCTTGGAACTGCCCTGGGCTCTCTGGGCCCACACGAGCTACCAGCTTCGGTGGTCAGAGGAGTAGAGGAGCCTCTTCCCGGCAAGGCCACTGCTCCACGAGCACCTCTCAAGGGCTGAGGGTTAGTCGGATGGGGCTGCGATGTGCCGAGCCCCCTGTCCACCCTTAGCCCTGGAGTGACTGTTTGCCTGCTAGCTTCCCAGGAGTATCCTGCTAGGGATTTACACCAGGGG | pathogenic | 140,603 |
Determine whether the variant at chromosome 8, position 144360816, in gene SLC52A2 (solute carrier family 52 member 2) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Brown-Vialetto-van_Laere_syndrome_2'] | AGTCGCCCACCTGACGGTACCGAGAGGGCGGCGCCCCTCCGAGCAGAGCCGTCCCGGCCACTCCCCTGGGATCTGACTTGGCTCTTGCGGTCGCGGGCACCGTGAAGCCCTGGGGTGTGCGTGGCTCCTCCTGGTAGGCGCCCTTTCCCGGCGTCCGGCTTGGGGTGGTGGTGGCGTTGACTCCAGCCCCGCCTCTCCCTGGAGAGGAGGGCTCCACTCGCTCCTTCGGCCTCCTCCCCTGGGGCCGCAGCGACTCGGGCCGGCTTCCTGCTTCCCTGCCTGCCGGCGGTCCCGCTGGGTACGTTTTAGCCAATCCTCCCCATCTGCGCTCCTGCCCGGGGCTCCCCCAGTTCCCCTGGTCTCACCCTGTTCTGACTCCGGCTCTGCATCCTATCTGTTTCTCTGTTTCTTTCAAGCTAGAAGAAGTCTTCACTTCCCAGGAGAGCCAAAGCGTGTCTGGCCCTAGGTGGGAAAAGAACTGGCTGTGACCTTTGCCCTGACCTGGAAGGGCCCAGCCTTGGGCTGAATGGCAGCACCCACGCCCGCCCGTCCGGTGCTGACCCACCTGCTGGTGGCTCTCTTCGGCATGGGCTCCTGGGCTGCGGTCAATGGGATCTGGGTGGAGCTACCTGTGGTGGTCAAAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAGTGGGATCTGGGTGGAGCTACCTGTGGTGGTCAGAGAGCTTCCAGAGGGTGAGTGGGAGGAGGTGCAGGTGTGCCCAGGAAGGTGGGCTTTGGCACTCTTCCTCCCTTGGGCATCATGACCCTGACATGGCCTCCTCCCTTCCCTGCAGGTTGGAGCCTCCCCTCTTACGTCTCTGTGCTTGTGGCTCTGGGGAACCTGGGTCTGCTGGTGGTGACCCTCTGGAGGAGGCTGGCCCCAGGAAAGGACGAGCAGGTCCCCATCCGGGTGGTGCAGGTGCTGGGCATGGTGGGCACAGCCCTGCTGGCCTCTCTGTGGCACCATGTGGCCCCAGTGGCAGGACAGTTGCATTCTGTGGCCTTCTTAGCACTGGCCTTTGTGCTGGCACTGGCATGCTGTGCCTCGAATGTCACTTTCCTGCCCTTCTTGAGCCACCTGCCACCTCGCTTCTTACGGTCATTCTTCCTGGGTCAAGGCCTGAGTGCCCTGCTGCCCTGCGTGCTGGCCCTAGTGCAGGGTGTGGGCCGCCTCGAGTGCCCGCCAGCCCCCATCAACGGCACCCCTGGCCCCCCGCTCGACTTCCTTGAGCGTTTTCCCGCCAGCACCTTCTTCTGGGCACTGACTGCCCTTCTGGTCGCTTCAGCTGCTGCCTTCCAGGGTCTTCTGCTGCTGTTGCCGCCACCACCATCTGTACCCACAGGGGAGTTAGGATCAGGCCTCCAGGTGGGAGCCCCAGGAGCAGAGGAAGAGGTGGAAGAGTCCTCACCACTGCAAGAGCCACCAAGCCAGGCAGCAGGCACCACCCCTGGTCCAGACCCTAAGGCCTATCAGCTTCTATCAGCCCGCAGTGCCTGCCTGCTGGGCCTGTTGGCCGCCACCAACGCGCTGACCAATGGCGTGCTGCCTGCCGTGCAGAGCTTTTCCTGCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGTGCTGGGCAGTGCTGCCAATCCCCTGGCCTGCTTCCTGGCCATGGGTGTGCTGTGCAGGTACACAAGGACCCCCAGCCCCTGTGCGGGTGGAACTCAGGGCTAGGAGCCAGGTCCTGGCGCAGTCAGCCCTGACATTCTGCTCGCTCACTGCAGGTCCTTGGCAGGGCTGGGCGGCCTCTCTCTGCTGGGCGTGTTCTGTGGGGGCTACCTGATGGCGCTGGCAGTCCTGAGCCCCTGCCCGCCCCTGGTGGGCACCTCGGCGGGGGTGGTCCTCGTGGTGAGCACAGGGGGACATGAAGTGGGGTGGGGGGGCGTTGCCCTGGAGCAGGCACATCTCACGCTCAGCTGGTGCTGTGTCCCCCTCAGGTGCTGTCGTGGGTGCTGTGTCTTGGCGTGTTCTCCTACGTGAAGGTGGCAGCCAGCTCCCTGCTGCATGGCGGGGGCCGGCCGGCATTGCTGGCAGCCGGCGTGGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGACCAGCATCTATCACGTGTTCCACAGCAGAAAGGACTGTGCAGACCCCTGTGACTCCTGAGCCTGGGCAGGTGGGGACCCCGCTCCCCAACACCTGTCTTTCCCTCAATGCTGCCACCATGCCTGAGTGCCTGCAGCCCAGGAGGCCCGCACACCGGTACACTCGTGGACACCTACACACTCCATAGGAGATCCTGGCTTTCCAGGGTGGGCAAGGGCAAGGAGCAGGCTTGGAGCCAGGGACCAGTGGGGGCTGTAGGGTAAGCCCCTGAGCCTGGGACCTACATGTGGTTTGCGTAATAAAACATTTGTATTTAATGAGTTGGCATTAATTCTTTGAGCACATCTCTCTGTGTGGATGCTTCCCTGAACTAGAGCCATGGCCTGGCCTGTTTAACAGGCTGCCTCTCCCCAGGCCCTGGGCAGGTCCTTACCCACCACAGGCTGGTCTCACGGATTGTACAGTCATGCCCTCTGAGCCCAGACTACCCCACATTGCTTCTTGGAACTGCCCTGGGCTCTCTGGGCCCACACGAGCTACCAGCTTCGGTGGTCAGAGGAGTAGAGGAGCCTCTTCCCGGCAAGGCCACTGCTCCACGAGCACCTCTCAAGGGCTGAGGGTTAGTCGGATGGGGCTGCGATGTGCCGAGCCCCCTGTCCACCCTTAGCCCTGGAGTGACTGTTTGCCTGCTAGCTTCCCAGGAGTATCCTGCTAGGGATTTACACCAGGGGGTTGGTGTGCAGGCACCGGGGTACTCAGTGAGGGGGACTCAGAAGAGACAGAGTTTAAGGTTTTAGCCCATCGGGACCGTTTGGCCTGAGCATTACCCCACTCCCCTGAGCCTCCACCCTCTCAGTGACAGCTCCTCCTGCAATCAGACCCCCAAAGGCCCCAAACTGTTTCTTCAGGCAGACTTGGCTACAGCTGTCTTCTCCCTGGGCTGCTGGCACACTGCCCCTAGCCCTGAGCAGCCTGGGCCTGTATGTGTTGGCATCTGCAGGGAGCAGGACCTCAGCACTGACCATGGTCTATCCTGGGCTGGGTGGTTCTTGGGCTCCCACAAAAAGAGCTGGAGCTGCAAAGGAACTAACTGAGAGGAGCCCCTGAGCCTGGGAGCAAGGATCTGGAAGAAAGTGCTGGGAGAGACCACGCCAAGGTAGGAGCCTGGCTTTCTTCACCTCGTGGGCCGCCACCCCAGGGAGGCAGGACACCGAACTGTGATCAGTATGACGGGCCTGGCAGCAAGGCCCATTCTCCCAGGCAAGAGGCCCCACTTCTGCAGAAGGGCCCCTGCAGCTACAGGGAGCGTGCAGGCACTGGGGATGGTGGGTCTGTTCCTGCTGCCCAAGCTCTGTCTGCGACGGTTCCGCTCTGCGGAGGCCCTTTCTCATTGTCCTTGAGTTGGCCTGCACACGGGCCTTTGAAGGCCTGGTCTTCCTCCCCACTTCTGCTCCCTCCTGTCTTGGCAGGACCATCAGAGGAGGAAGGAGCCCCTGTGACCCGGAAAGCCTCTAGTCTGGGCCCCATCAAACATCAGGGGGCAGGCCAGCTCCCAGGGGGGCTCAGGACCACCCAACTCTGAGGGCAGAGGCCACTGCCAGCTCCAGCCTTCCAGGATGCTGCCGCCTGAGGCTGGGCCCCTGCCCAGCTGACCCGGCTGCTTCCCTTTGGGGGTTGCAGGTACTGAGGGTTCTAGGGGGTGGGGGCTGAAGGTTGAGTGTGAGCTTCAGAAGTCGCCTGGTAAAAGAAGAAAGCTTCTGAGGGAGGATGAGGACAAGGATGGGACAAGGTGGGTGGTTTGGTGGCATGGCTGTGGGCAACAGGGCTCCTGGTCTCATGCTTGCCCCCTTCCCCTCATCGCTTTGCCACCACCCCCATCAGCACCGGTGCTTGGGGCCTGCCCTCTCC | AGTCGCCCACCTGACGGTACCGAGAGGGCGGCGCCCCTCCGAGCAGAGCCGTCCCGGCCACTCCCCTGGGATCTGACTTGGCTCTTGCGGTCGCGGGCACCGTGAAGCCCTGGGGTGTGCGTGGCTCCTCCTGGTAGGCGCCCTTTCCCGGCGTCCGGCTTGGGGTGGTGGTGGCGTTGACTCCAGCCCCGCCTCTCCCTGGAGAGGAGGGCTCCACTCGCTCCTTCGGCCTCCTCCCCTGGGGCCGCAGCGACTCGGGCCGGCTTCCTGCTTCCCTGCCTGCCGGCGGTCCCGCTGGGTACGTTTTAGCCAATCCTCCCCATCTGCGCTCCTGCCCGGGGCTCCCCCAGTTCCCCTGGTCTCACCCTGTTCTGACTCCGGCTCTGCATCCTATCTGTTTCTCTGTTTCTTTCAAGCTAGAAGAAGTCTTCACTTCCCAGGAGAGCCAAAGCGTGTCTGGCCCTAGGTGGGAAAAGAACTGGCTGTGACCTTTGCCCTGACCTGGAAGGGCCCAGCCTTGGGCTGAATGGCAGCACCCACGCCCGCCCGTCCGGTGCTGACCCACCTGCTGGTGGCTCTCTTCGGCATGGGCTCCTGGGCTGCGGTCAATGGGATCTGGGTGGAGCTACCTGTGGTGGTCAAAGAGCTTCCAGAGGGTGAGTGGGAGGGAGGTGCAGGTGTGCCCAAGACTCCTGGGCTGCGGTCAGTGGGATCTGGGTGGAGCTACCTGTGGTGGTCAGAGAGCTTCCAGAGGGTGAGTGGGAGGAGGTGCAGGTGTGCCCAGGAAGGTGGGCTTTGGCACTCTTCCTCCCTTGGGCATCATGACCCTGACATGGCCTCCTCCCTTCCCTGCAGGTTGGAGCCTCCCCTCTTACGTCTCTGTGCTTGTGGCTCTGGGGAACCTGGGTCTGCTGGTGGTGACCCTCTGGAGGAGGCTGGCCCCAGGAAAGGACGAGCAGGTCCCCATCCGGGTGGTGCAGGTGCTGGGCATGGTGGGCACAGCCCTGCTGGCCTCTCTGTGGCACCATGTGGCCCCAGTGGCAGGACAGTTGCATTCTGTGGCCTTCTTAGCACTGGCCTTTGTGCTGGCACTGGCATGCTGTGCCTCGAATGTCACTTTCCTGCCCTTCTTGAGCCACCTGCCACCTCGCTTCTTACGGTCATTCTTCCTGGGTCAAGGCCTGAGTGCCCTGCTGCCCTGCGTGCTGGCCCTAGTGCAGGGTGTGGGCCGCCTCGAGTGCCCGCCAGCCCCCATCAACGGCACCCCTGGCCCCCCGCTCGACTTCCTTGAGCGTTTTCCCGCCAGCACCTTCTTCTGGGCACTGACTGCCCTTCTGGTCGCTTCAGCTGCTGCCTTCCAGGGTCTTCTGCTGCTGTTGCCGCCACCACCATCTGTACCCACAGGGGAGTTAGGATCAGGCCTCCAGGTGGGAGCCCCAGGAGCAGAGGAAGAGGTGGAAGAGTCCTCACCACTGCAAGAGCCACCAAGCCAGGCAGCAGGCACCACCCCTGGTCCAGACCCTAAGGCCTATCAGCTTCTATCAGCCCGCAGTGCCTGCCTGCTGGGCCTGTTGGCCGCCACCAACGCGCTGACCAATGGCGTGCTGCCTGCCGTGCAGAGCTTTTCCTGCTTACCCTACGGGCGTCTGGCCTACCACCTGGCTGTGGTGCTGGGCAGTGCTGCCAATCCCCTGGCCTGCTTCCTGGCCATGGGTGTGCTGTGCAGGTACACAAGGACCCCCAGCCCCTGTGCGGGTGGAACTCAGGGCTAGGAGCCAGGTCCTGGCGCAGTCAGCCCTGACATTCTGCTCGCTCACTGCAGGTCCTTGGCAGGGCTGGGCGGCCTCTCTCTGCTGGGCGTGTTCTGTGGGGGCTACCTGATGGCGCTGGCAGTCCTGAGCCCCTGCCCGCCCCTGGTGGGCACCTCGGCGGGGGTGGTCCTCGTGGTGAGCACAGGGGGACATGAAGTGGGGTGGGGGGGCGTTGCCCTGGAGCAGGCACATCTCACGCTCAGCTGGTGCTGTGTCCCCCTCAGGTGCTGTCGTGGGTCTGTGTCTTGGCGTGTTCTCCTACGTGAAGGTGGCAGCCAGCTCCCTGCTGCATGGCGGGGGCCGGCCGGCATTGCTGGCAGCCGGCGTGGCCATCCAGGTGGGCTCTCTGCTCGGCGCTGTTGCTATGTTCCCCCCGACCAGCATCTATCACGTGTTCCACAGCAGAAAGGACTGTGCAGACCCCTGTGACTCCTGAGCCTGGGCAGGTGGGGACCCCGCTCCCCAACACCTGTCTTTCCCTCAATGCTGCCACCATGCCTGAGTGCCTGCAGCCCAGGAGGCCCGCACACCGGTACACTCGTGGACACCTACACACTCCATAGGAGATCCTGGCTTTCCAGGGTGGGCAAGGGCAAGGAGCAGGCTTGGAGCCAGGGACCAGTGGGGGCTGTAGGGTAAGCCCCTGAGCCTGGGACCTACATGTGGTTTGCGTAATAAAACATTTGTATTTAATGAGTTGGCATTAATTCTTTGAGCACATCTCTCTGTGTGGATGCTTCCCTGAACTAGAGCCATGGCCTGGCCTGTTTAACAGGCTGCCTCTCCCCAGGCCCTGGGCAGGTCCTTACCCACCACAGGCTGGTCTCACGGATTGTACAGTCATGCCCTCTGAGCCCAGACTACCCCACATTGCTTCTTGGAACTGCCCTGGGCTCTCTGGGCCCACACGAGCTACCAGCTTCGGTGGTCAGAGGAGTAGAGGAGCCTCTTCCCGGCAAGGCCACTGCTCCACGAGCACCTCTCAAGGGCTGAGGGTTAGTCGGATGGGGCTGCGATGTGCCGAGCCCCCTGTCCACCCTTAGCCCTGGAGTGACTGTTTGCCTGCTAGCTTCCCAGGAGTATCCTGCTAGGGATTTACACCAGGGGGTTGGTGTGCAGGCACCGGGGTACTCAGTGAGGGGGACTCAGAAGAGACAGAGTTTAAGGTTTTAGCCCATCGGGACCGTTTGGCCTGAGCATTACCCCACTCCCCTGAGCCTCCACCCTCTCAGTGACAGCTCCTCCTGCAATCAGACCCCCAAAGGCCCCAAACTGTTTCTTCAGGCAGACTTGGCTACAGCTGTCTTCTCCCTGGGCTGCTGGCACACTGCCCCTAGCCCTGAGCAGCCTGGGCCTGTATGTGTTGGCATCTGCAGGGAGCAGGACCTCAGCACTGACCATGGTCTATCCTGGGCTGGGTGGTTCTTGGGCTCCCACAAAAAGAGCTGGAGCTGCAAAGGAACTAACTGAGAGGAGCCCCTGAGCCTGGGAGCAAGGATCTGGAAGAAAGTGCTGGGAGAGACCACGCCAAGGTAGGAGCCTGGCTTTCTTCACCTCGTGGGCCGCCACCCCAGGGAGGCAGGACACCGAACTGTGATCAGTATGACGGGCCTGGCAGCAAGGCCCATTCTCCCAGGCAAGAGGCCCCACTTCTGCAGAAGGGCCCCTGCAGCTACAGGGAGCGTGCAGGCACTGGGGATGGTGGGTCTGTTCCTGCTGCCCAAGCTCTGTCTGCGACGGTTCCGCTCTGCGGAGGCCCTTTCTCATTGTCCTTGAGTTGGCCTGCACACGGGCCTTTGAAGGCCTGGTCTTCCTCCCCACTTCTGCTCCCTCCTGTCTTGGCAGGACCATCAGAGGAGGAAGGAGCCCCTGTGACCCGGAAAGCCTCTAGTCTGGGCCCCATCAAACATCAGGGGGCAGGCCAGCTCCCAGGGGGGCTCAGGACCACCCAACTCTGAGGGCAGAGGCCACTGCCAGCTCCAGCCTTCCAGGATGCTGCCGCCTGAGGCTGGGCCCCTGCCCAGCTGACCCGGCTGCTTCCCTTTGGGGGTTGCAGGTACTGAGGGTTCTAGGGGGTGGGGGCTGAAGGTTGAGTGTGAGCTTCAGAAGTCGCCTGGTAAAAGAAGAAAGCTTCTGAGGGAGGATGAGGACAAGGATGGGACAAGGTGGGTGGTTTGGTGGCATGGCTGTGGGCAACAGGGCTCCTGGTCTCATGCTTGCCCCCTTCCCCTCATCGCTTTGCCACCACCCCCATCAGCACCGGTGCTTGGGGCCTGCCCTCTCCN | pathogenic | 140,640 |
Chromosome 8, position 144413508, gene SLC39A4 (solute carrier family 39 member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_acrodermatitis_enteropathica', 'Inborn_genetic_diseases', 'SLC39A4-related_disorder'] | GGCGCAATGGCTCACACCTGTAATCCTAGCACTTTGGGAGATCGAGGTGGGTGGATTACCTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCCTACTAAAAATATAAAAATTAACTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCACTGTACTCCAGCCGGGGCGACAGAGTGAAGCTCTGTCTCAAAAGAAGAAAGAAAAGAAAAGGGGAGGGGAGGGGAGGGAAGGTCATGTGAAGACAAAGGCAGGGATTGGAGTCATACTGCCCACAAACCAAGGAACACCTGGGGCCACCAGTAGCCAGGAAAGGCTCATGGAACAGACTGTTTCCTAGAGACTTCAGAGAGAGCATTGCTCTCCTGACACTTTGATTCCTAACTTTCAGCCTCCAGAACTGTGAGAATAAGTTTCTGGTTTTAAGGCACTCAGTTTATGGTAGGCTTTGTTAAGGTAGCCCTAGGAGGCCACCACACAGGCACTCAGGATTAACGCCTCAGAGTCAGAAGAGGCTGGCGTCCCAGGAACCGTGGGCTGCCACACACTCTGGTCTGACGATCTCCAGGTTTGCTTTCCATGACAGAGAAATAAGCCCTCGGCTGTGTAAGCAGTTATAGGTAAGCAAGTTTGATTCCTGTTTGGGGACAGGTCCCACCTGCTGCCCACACACCCGGGTGAATTTCCCTGACCCCACTCCTCAGGCAGGCAGGGTCTCCATATCAAAGAGGGGGCACCTGAGGCTGGCTGCCTGGGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCT | GGCGCAATGGCTCACACCTGTAATCCTAGCACTTTGGGAGATCGAGGTGGGTGGATTACCTGAGGTCAGGAGATCGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCCTACTAAAAATATAAAAATTAACTGGGCGTGGTGGCGGGTGCCTGTAATCCCAGCTACTCGGGAGGCTGATGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCGAGATGGTGCCACTGTACTCCAGCCGGGGCGACAGAGTGAAGCTCTGTCTCAAAAGAAGAAAGAAAAGAAAAGGGGAGGGGAGGGGAGGGAAGGTCATGTGAAGACAAAGGCAGGGATTGGAGTCATACTGCCCACAAACCAAGGAACACCTGGGGCCACCAGTAGCCAGGAAAGGCTCATGGAACAGACTGTTTCCTAGAGACTTCAGAGAGAGCATTGCTCTCCTGACACTTTGATTCCTAACTTTCAGCCTCCAGAACTGTGAGAATAAGTTTCTGGTTTTAAGGCACTCAGTTTATGGTAGGCTTTGTTAAGGTAGCCCTAGGAGGCCACCACACAGGCACTCAGGATTAACGCCTCAGAGTCAGAAGAGGCTGGCGTCCCAGGAACCGTGGGCTGCCACACACTCTGGTCTGACGATCTCCAGGTTTGCTTTCCATGACAGAGAAATAAGCCCTCGGCTGTGTAAGCAGTTATAGGTAAGCAAGTTTGATTCCTGTTTGGGGACAGGTCCCACCTGCTGCCCACACACCCGGGTGAATTTCCCTGACCCCACTCCTCAGGCAGGCAGGGTCTCCATATCAAAGAGGGGGCACCTGAGGCTGGCTGCCTGGGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTNNNNNNNNNNNNNN | pathogenic | 140,654 |
Is the chromosome 8, position 144414020 variant in SLC39A4 (solute carrier family 39 member 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hereditary_acrodermatitis_enteropathica'] | CTCAGTTTATGGTAGGCTTTGTTAAGGTAGCCCTAGGAGGCCACCACACAGGCACTCAGGATTAACGCCTCAGAGTCAGAAGAGGCTGGCGTCCCAGGAACCGTGGGCTGCCACACACTCTGGTCTGACGATCTCCAGGTTTGCTTTCCATGACAGAGAAATAAGCCCTCGGCTGTGTAAGCAGTTATAGGTAAGCAAGTTTGATTCCTGTTTGGGGACAGGTCCCACCTGCTGCCCACACACCCGGGTGAATTTCCCTGACCCCACTCCTCAGGCAGGCAGGGTCTCCATATCAAAGAGGGGGCACCTGAGGCTGGCTGCCTGGGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCC | CTCAGTTTATGGTAGGCTTTGTTAAGGTAGCCCTAGGAGGCCACCACACAGGCACTCAGGATTAACGCCTCAGAGTCAGAAGAGGCTGGCGTCCCAGGAACCGTGGGCTGCCACACACTCTGGTCTGACGATCTCCAGGTTTGCTTTCCATGACAGAGAAATAAGCCCTCGGCTGTGTAAGCAGTTATAGGTAAGCAAGTTTGATTCCTGTTTGGGGACAGGTCCCACCTGCTGCCCACACACCCGGGTGAATTTCCCTGACCCCACTCCTCAGGCAGGCAGGGTCTCCATATCAAAGAGGGGGCACCTGAGGCTGGCTGCCTGGGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCN | pathogenic | 140,658 |
Chromosome 8, position 144414045, gene SLC39A4 (solute carrier family 39 member 4): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Hereditary_acrodermatitis_enteropathica'] | GGTAGCCCTAGGAGGCCACCACACAGGCACTCAGGATTAACGCCTCAGAGTCAGAAGAGGCTGGCGTCCCAGGAACCGTGGGCTGCCACACACTCTGGTCTGACGATCTCCAGGTTTGCTTTCCATGACAGAGAAATAAGCCCTCGGCTGTGTAAGCAGTTATAGGTAAGCAAGTTTGATTCCTGTTTGGGGACAGGTCCCACCTGCTGCCCACACACCCGGGTGAATTTCCCTGACCCCACTCCTCAGGCAGGCAGGGTCTCCATATCAAAGAGGGGGCACCTGAGGCTGGCTGCCTGGGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCAC | GGTAGCCCTAGGAGGCCACCACACAGGCACTCAGGATTAACGCCTCAGAGTCAGAAGAGGCTGGCGTCCCAGGAACCGTGGGCTGCCACACACTCTGGTCTGACGATCTCCAGGTTTGCTTTCCATGACAGAGAAATAAGCCCTCGGCTGTGTAAGCAGTTATAGGTAAGCAAGTTTGATTCCTGTTTGGGGACAGGTCCCACCTGCTGCCCACACACCCGGGTGAATTTCCCTGACCCCACTCCTCAGGCAGGCAGGGTCTCCATATCAAAGAGGGGGCACCTGAGGCTGGCTGCCTGGGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGA | pathogenic | 140,660 |
Variant at chromosome position 144414344, chromosome 8, gene SLC39A4 (solute carrier family 39 member 4): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Hereditary_acrodermatitis_enteropathica'] | GGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGA | GGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAG | pathogenic | 140,666 |
For chromosome 8, position 144414344, gene SLC39A4 (solute carrier family 39 member 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_acrodermatitis_enteropathica'] | GGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGA | GGGGTCCTGAGTGCAGCTCTCCTGGCTTCGAGGCACCCCGATGGGGAGAAGGCAGTGCCGCAATTGTCCTTTCTCAGCTGAGGGCCCTTCCCACCCAGCAAGGAGAGCACAGCCATGCTCCAAGGACAAGAGTGTCTTTACTGGAGTTGGGACTGGGGCCTCTATAGGGGCTTCTGGTTTCTGGGCTGTAGGTTTGTGAGGTGTGGGATCTTAAGTCAAAGGTGGGGGACTAGGGCAGGGTATCAGAAGGTGATGTCATCCTCGTACAGGGACAGCAGCAGCAGGACGGTCCAGCCGCCCAGCAGGCCCACGTTGTGCAGCAGGAAGAGGAGCCAGGGCCGCGGGTCCCGTACTTTCAACATCGCCGGGAGCTGAGGAGCAAGTGGGCACCGGGTCAGCGCCCCTGCTCAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGAN | pathogenic | 140,667 |
Mutation at chromosome 8, position 144414752, within SLC39A4 (solute carrier family 39 member 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic | CAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGAAGAGGGACTGTGTCCCTGGAAAGGCCTGTCTGCCCTCATGAGCAGGAGGGTGGGCTCTGGCCTGTGGGGAGGGTCAGGGTGCCCAGGTACTGCCACTAGCCTCCTCCGCCTCCTGGAGTTTGCCCAGGGCCCTTTGCTGCCGGCTGGCAGGGCGGAGCTGGCGGGAAGAGGCCAGGGCTGGGGGACCCGTCGGGTGGGGCTGTTACCTTTCCACACGGCCCGTTGGCGCAGTGCACACGGTCCGCCAGCGTATTTAACAGGCCGCCCAGAGCCTCTTGATCCAGAGCGCCCTGGCCAGAGGTGAGCAGGCTCAGCAGACCAGCAGGCGGGGACGCCGTCGCCGTCACCACCAGCACAGCCAGAAGCAGCCCCAGCTCCAGCGAGACCAGGGACGCCATACTCAGCTCC | CAGCTCCTCTGCTCAGCTCCCGGCCCAGAGCAGCCCCTCCCCTCGCCATCCTGACCATGTCGCAGAGTGCTACGTAGAGGAACAGGCCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGAAGAGGGACTGTGTCCCTGGAAAGGCCTGTCTGCCCTCATGAGCAGGAGGGTGGGCTCTGGCCTGTGGGGAGGGTCAGGGTGCCCAGGTACTGCCACTAGCCTCCTCCGCCTCCTGGAGTTTGCCCAGGGCCCTTTGCTGCCGGCTGGCAGGGCGGAGCTGGCGGGAAGAGGCCAGGGCTGGGGGACCCGTCGGGTGGGGCTGTTACCTTTCCACACGGCCCGTTGGCGCAGTGCACACGGTCCGCCAGCGTATTTAACAGGCCGCCCAGAGCCTCTTGATCCAGAGCGCCCTGGCCAGAGGTGAGCAGGCTCAGCAGACCAGCAGGCGGGGACGCCGTCGCCGTCACCACCAGCACAGCCAGAAGCAGCCCCAGCTCCAGCGAGACCAGGGACGCCATACTCAGCT | pathogenic | 140,672 |
A genetic variant at chromosome 8, position 144414838, affecting gene SLC39A4 (solute carrier family 39 member 4)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Hereditary_acrodermatitis_enteropathica'] | CCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGAAGAGGGACTGTGTCCCTGGAAAGGCCTGTCTGCCCTCATGAGCAGGAGGGTGGGCTCTGGCCTGTGGGGAGGGTCAGGGTGCCCAGGTACTGCCACTAGCCTCCTCCGCCTCCTGGAGTTTGCCCAGGGCCCTTTGCTGCCGGCTGGCAGGGCGGAGCTGGCGGGAAGAGGCCAGGGCTGGGGGACCCGTCGGGTGGGGCTGTTACCTTTCCACACGGCCCGTTGGCGCAGTGCACACGGTCCGCCAGCGTATTTAACAGGCCGCCCAGAGCCTCTTGATCCAGAGCGCCCTGGCCAGAGGTGAGCAGGCTCAGCAGACCAGCAGGCGGGGACGCCGTCGCCGTCACCACCAGCACAGCCAGAAGCAGCCCCAGCTCCAGCGAGACCAGGGACGCCATACTCAGCTCCCAGCGTGCTCAGTGGGTGTTGCTGTGGCCAAGGCCCAGTGCTTCTGGGCTGGCTGAGGGCGGCTTTGCTGGGGTTGTCCAGGGCCA | CCGGTGGCCACTGCCAGGATCCAGGCCTCGCTCTCCTCGCTGACTCCAACCGCGAGTGCCACGTAGAGACCAGCGAAGGCCGTGAGCGCGGAGGCCAGGTTCAGCAGCAGTGCTTGGCGCACGGACAGCCCCGCGTGCAGCAAGGCGGCGAAGTCCCCTGCGGGCGAGTCCACATTAACAGCTCCGCCCTCCTAGCTACATGCCCCGCCCACCTCCTTTCGGTCCCGCCCTCTTACCACCAGGCCCCGCCCACCTGTTCCCGGTCTCCCCGCCCAGCCGTCAGATCCCGCCCATCACCTTCCAGGCCCCGCCCCACCTGTTTCCGGTCTCCCCACCCAGCCAGGTGCGGCCCCGCCCATCTTCCAGGCCCCGCCCACCTGTTCCAGGTCTCCCCTCCCAGCCCCGTGCGGCCCCGCCCATCTCCTTCCAGGCCCCGCCTGCGCTCACCCAGCTCGTGTGGCAACTCGTGGCAGAACACGGCCAGCGAGGTGGCCAGCCCGGTCTTCCAGGAGGACGCGAAGGCGGCGCCCACGGCCAGCCCGTCGGCGAAGTTGTGCACGGCGTCGCCCAGAGTGATCATATAGGGCAGTAGCCTCAACTCTGCGGGCGCAGAGGCCCGTGGGTTCGCGTGGCCTGTCGCCTACCGCCAAGCCTTGGGCCCCACCCGCGCTCCACACAAACCCCAGATCCCCCAGCCCTTCCGGGGTCGCCCCCTGGGCTCACCTGGGCTCAGTCTCCTGGGCTCAGGGTTCAGCAGCTCCGGGCTCTCCTCCGCCACCTGGGAGGAGCCTTGAGTAAGTCCCGCCCGGAAGTGGAGGAGGAACGCGGTGGGGCGGGGCGGGGCCCCAGATCACCGCGGGAGGCGGAGCCGCAGGCCTGGGGTGGGGCTGGGAGTGTGGGCGTGGGAAGGGGTCGGTGGGAGGGGCTCCGCGTGGGATGGGGCATCTGGCGCCCACTCACCAGGTCTGCGCGGGAGCCCTCGTGGGGGGGCTTGGGCTGCCGGAGCTCGCTGGGTGCCAGCTGCAGGGACACACCGTGGCTGTGGCCCCCGTGGCTATGGCTGCTGTGGCCGCAGGGCCCGTCCTCCAGGTCCTGTGAGGGTAGGTGCTCAGTGTCCACCAGGCCCCCAGCACACCCACCCGCCGGGTACCTTCCCAAGAAGCCTGACCTCCGGGTCCCTGGGCAGCAGGAGATTGAAGAGGTTCTCAAACAGGAAGAAGGCGTAGAGCCCGGCCAGCATAGCCAGGAGGCGCCAGGTGGGCTGTGGGCTGAGGCCCTCTTCGCTGTGTGTATGCAGCCCCAGCACCTGGGGAGTAGGGGCGCTGGGCTGGGGGGGAGGTCCCAGGGCGCCTCCCACCAAGACCCAGGGAGAGGGGTCAGGAGGTGGGGTGGGTAAGGTCCCTGGGAGGGCACGGCCTGGGAGTCCATGGTGGGGAACGGAGGGCCAGGGTCGCGGGTTTGTGGGGGCAGACCTTGGGCGTCAGATGCAGGACAGCGTCCCCAGTGACTGCACCCACTGCCAGGCTCAGGAAGGTCTGCAGGATGTAGTGGGTGACCCCCCTGCAGCCAGTGCAGGTCAGCAGCAGGAGGCCAAAGACCGCGCAGAGGCAGATGAGCAGCGTGGCCAGGGAGCCGTACAGATACCCTGGGGGCGGGTGAGGCGGCTGTGAGAGCTTTTCTTCCAGACTCAGCCCCTGCTTCCCGGGCGCTGCTCACCAGAGCTGCAGGCCGTCAGTGTGGGCCAGGCCCTCACTCAGGCTGACCCTCCTGCCTCAAAGCCCCACTCTCCTGGCGACGCCACCTTCCCCTGTGTCTGTTGTTTCTACTTCCAGCCCCTGCTCACTCTCTCCATCCCTCATCCTGGGCAGCCACTCCTTCCTTCCTACACGGGCTCCACCTCTGTGCTGCCAGCACAATGTCGGCGTGGGCACTCACTCTCTGACTGGCTGAGCTGGTCCTGGACGGGGGGCCTGGACTGGGAGGTGCAGGCTCCACTCAGCTGCTGTTGGAGCAGGGCAGGGCTCAGTTGGGCCCAGGCCTCCGGGGTCACCCAGCCTGTTCCGACAGTCCATATGCAGCCATCACGTCCCTGGCACTCAGGCATACCTGGGGGGTGGCAGGACAGGCTCAGGGGCCCAAGCAGACCCCGGTGAGGCCCCATCTTACCCCAGGGCGCAGCTCACCGTGTCCCACACACTGGAGCTGTTGCTGGAGCTGATGAGGGGCACAGGGTCCCGGCTGCTGGCTCCCCTGTGCCGATGACTGTGGTCACTGTGGGCCTCCCTGCCCACCCCCAGGCGCTGCATCAAGGCTGACAGCTCTGGCAGGGAGAAGAGTTGGCACCGCGAGTCTGTGTGGGCTCCGGCCCTGCCCCCCAGGGACGTGGAGGCTGGGGACTCGGGGGTGCCCCCCTCCACAGCCCAGCCCAGGCCTCACCGGCCAGCGTCATAGGGACCTCGCTGCTGTGCTGCTGGAACACAAAGTCCACGAAGTACTGAGGGCTCGGCAAGGCGTGGAAGCAAGACCCGCTCCTGACATGGTCCAGCAGGGCAGCCAGGACGCCGCCAGCACTGCCCGGAGCCCCCGCCCCCACCGCCTCCTCCAGCAGCTGAGGGATATCTACGCAGGCCTGGGGAAGAGGGGGCCTCCGCCTCAGCCTTTGGTGTGACCTTCTGCCATCCACCCCGCTGCCCCTGGATGCATCTCCCACCCCAACTACAGGATCTGCCCCCACCAGCCCCGCCCCTCCCTGGAGCCACAGCCCTCCCTGCCGGGCCCAGCTGCTTCAGGCTCCCACTCAGGCCTCTGGGTTCCTCCCTCATGAGGTCCCTCCCGGGGCTCCTACAGGCTCCCAACTGCCCAGTAGTGAGCCCCACGTTGTGAATCCCCAGCCGCAGGCCGACTCCTGGGCGTCTCCCCAGGCCCCCAGGCTCCCCGAAGGCTTTGCAGCCAGGCCGGGTCCCATGGGCCGTGGGACCCTCCTCACCCACTCCCCTGGTCTGCCTGGACTCTCCCTCACCATCTTGGGGGTCTGGCCGGCAGCCCGGGCCTGCATCCTCTGCAGCAGCCAGCTCAGGCCCGGGGTCAGGGCCTTGGGGCTCTCGAGCAGGGCCAGGAGGTGGTCTGCATGAGAGGCCCAGAGGCCAGCCCGAGCGTCCTCACAGGTGCCCTCGGGGTTGCTGAGGTACAGGACGGCGGCGGCACTGAGGCGGGCGACGTACCTGGCCTCCAGGACCGGGCCCGGGGGCAGCCCTGACCCCTCAGGCTCGCCCAGGCCCAGGGCGTCCTCCACAGACAGGCACTGTGGGCAGAGACAAGTGAGCAGGGGCGCTGGGCCCACCAGGGAGGGGAGAGGCAGGCCTGGCCAGGGGCTTCCCCGAGGGCCTGTTTCCCTTTCAAGTCCAACAACGTCCACCATCCTCTCTCAACCCCTGGCGCCCTTCCGTCTCCCCAGGCCCCTGTCCTGCTTCCCCAACTACAGGGGTGCACGCAGAGGGGTCCCCAACAGTGGTCCCCCATCCCCAGGGGACTCCCCTGGAGCCACTGCCAATTTGATGGCAGAGGGCCGGCAGGGGGAGTTGGCCCTGGGGTCCTGGGGAGAAGAGGGACTGTGTCCCTGGAAAGGCCTGTCTGCCCTCATGAGCAGGAGGGTGGGCTCTGGCCTGTGGGGAGGGTCAGGGTGCCCAGGTACTGCCACTAGCCTCCTCCGCCTCCTGGAGTTTGCCCAGGGCCCTTTGCTGCCGGCTGGCAGGGCGGAGCTGGCGGGAAGAGGCCAGGGCTGGGGGACCCGTCGGGTGGGGCTGTTACCTTTCCACACGGCCCGTTGGCGCAGTGCACACGGTCCGCCAGCGTATTTAACAGGCCGCCCAGAGCCTCTTGATCCAGAGCGCCCTGGCCAGAGGTGAGCAGGCTCAGCAGACCAGCAGGCGGGGACGCCGTCGCCGTCACCACCAGCACAGCCAGAAGCAGCCCCAGCTCCAGCGAGACCAGGGACGCCATACTCAGCTCCCAGCGTGCTCAGTGGGTGTTGCTGTGGCCAAGGCCCAGTGCTTCTGGGCTGGCTGAGGGCGGCTTTGCTGGGGTTGTCCAGGGCCAN | pathogenic | 140,674 |
Clinical significance of chromosome 8, position 144433597, gene TONSL (tonsoku like, DNA repair protein): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Sponastrime_dysplasia'] | CTGTCGCCCAGGGTGGAGTGCGGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTGTCTCCCAAGTAGCTGGGACTCCAGGAGCCCGTCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCTACCACGCCCAGCCTGTTTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCACCCAGGCTGGGTGCAATGGTGCAATCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAACCAATTCTCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGTACCCGCCACCACGCCTGGGTAATTTTTGTATTTTTACTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGCTTTTGAACTCCTGACCTTGTGATCCACCCCCTTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCCCAGCTGTTTTTTCTAAACCTCCAAACCTCTAACTCTCTCTGTAGAGCCCCTCAGCGAGTTCAGCCCGAATCTGGGGAGAGGCGAGCTCCTCCCAGCAACCCTGGGACCTTTGGCCTCTGAGGCTCAGTATTTTCTGGGTTCTTCCCCACCTCGTACCTTGGCCAGGTATCGGAATACAGGCTCCATGAGGTCCGAATCACCCTTGCCGGCTGCCACGGAGCTGAGCTCTAAGTGCAGGAGGGTGCCGGCGGGCAGGCTCTGCAGGGTCCTGGCCAGGGCAGGGGCTCCCAGGGCGTTGTAGGACAGGGACAGGGTCTTCAGGTGCTCAGCATCTGCACCGGGGCCAGAATCCGTCAGCCCCACGTGGCCACAGCCCTGTACCCACCCCAAGTTCTGGGCCCAGAACCCTCAGGACCCCTTTGGGGAAACCACTACCGCAGTGCTCGCAGGGTGGGGTGGCAAGTGCAGAGGCAAAGGCTCTCGCCCAGATTCTCCCAGCTGGGAGGGCGGGGCCAGACTTCCAAGCTCGGCTGCCCCCAGTTCTGGACAACTTGCCCTCTCCCACCCCACAACCACACGGTCCTGGGCCACATGCCTCTGCACAGTGGGGGTGCCAGGGGAGTGCACTGACCATTGCTGCCCCCCTTACACTCCCCCTGGATGACACCCAATTCCCAGCCTCTTGGCACTGGGACCCCAGTCTCTGCAGCCTGAGTGGGCTCACAGTGGAACTGCCTCAGGCGAACAGCACTCAGCTGGCGAGCACGGGATGGGGACCACAGGACACTAGCTGCCCGGACTCTGCTCTCGGTGTGTCCTGCGGGGGTCAGCCTGGCTGGGTGGGCACCAGACGCCCCTCGGAGGCAGACCCTGTACCCACACATCCATCTATTGCTCCCAGGTGCCAGGCCCTCCCGGAGAGCCAGGTCTGGCATCCCAGGCCCCTAGACGTTGTTTGTTTCGTTTTTTTGACACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAACGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGACTACAGGCACCGGCCACCACGCCCAGCTAATTGTATTTTTAATAGAGACGGCGTTTCACCGTGTTAGCCAGGATGGTCTCGATATCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAGACGCTTTTTTCTTAAGGGATGGGGTCTCACTATGTGGGCCAGGCTTTCCTGGAACTCTTGGCTCAAGCGATACTCCCGCCTCAGCCTCTCAAGTAGCTGGGACCACAGGTGTTGCCCCTGTGTGCCCAGCCTGGGCCCCCTCTGAAAGTCCTGGAAACCCTCAATGCCCCAGGGCTAGGGAGTGGACAGGGAGTGCCTGGTCAGCTCACCTTGGAAAGCACTACCCAGTGCTGTCTGGTGGCTCAGAAAGAAGCTGGGGCCGAAGCCACACGCCTGCAGGCGCAGGGTGCTGAGTAAGGGGCAGGCGTGCAGGAGGGAGGCCAGGGACTGGCCACAGCCGTCCCCCAGGGGGTTCATGCTTAAGTCCAGCTCCTCCAAACTCTGTGGAAGACACAGGCTGGCAGTGAGCCCCCAGCAGTCCCACGGACAGGGTCCCCCTTGGGGCTTGGCTTGGCAGTCTCTTCCCCACCTTGCCTGGCATAGCCTATTACAGCCGGGCACTGGCTGGCTCTCCCAACTACCCTAGACCACCCAGGGACCTGCAGAATGGGAACCCCAACTCCCCGCTGTTGAGGGCCTGCTGCTCTCTGTGCCTATACCTGCAAGGTGGCTTGGCCTGGGAGCCCCATGGCAAGCTGGCGCAGGCCTTCGGGACCCAGGTGATTGGAGGAGAGGTCAAGGAGGGCCAGGCTGGGCATGGTGCCCAGGGCAGCCACCAGCTCAGCCACACACTTGTCCCCCAGCCGGTTCCCTGCCAGGCGCAGCTCCCGGAGTGCTGTGTGCAGCTTGAGGGCCCGCAGCAGGGGTGTAAGCTGGGCCTGGTCCAGGGCCAGGGAGCAGGCGCTGAACGAGAGGCCCAAGCCCTGGAGCTCCACGGCCTGCAGCACCTGTTGGTGCTCCCCTGCGGGAGGGATGTGATGTCACCAGGGTAAGGCCGGCCCTTTCTGCCCTCTGAATCCCAGAGGGCAAACCAGGCAGCCCCTTTTCAACAGCCCCAGGGGTCACCCACCAGACTTGCTGTAGAGCCCACTCGCACATGCCTGTGGGTCTAGCACTGTGAGGCCCTGGGGGCCGGGGTGGGTCTGCAGCACCCTGAGCTCCACCAGTCACTGCCAGATTCCACACCCCCCGGGACAAGCTTTCTGGGAAGCTTCCCCAGCAGCTCCCAGCCCATGCCAGGCCCTCCTCCTTGGGTTTGACTTTCCAGGCTTTCGGCTGCTTTTTGCCATCTCCCTGTCAGCAGATCATGGGGGCTGAGGGCTGTCCTCTCCCTTCCACCCACACATCCAAGTGCAGGACACAGCACCCACCAGGCTGGGGGAGGTGCACCCCAAAACACCCGAGGCCCAGGAATGAACCGGGCTGGTGGAGCCTGTGTGCCCAACCCCCTTGTACGACCTCACCCAGAAACTGCAGCTCTCCTGGCCCTCACCTTGCCCCAGGCTCTGGCAGGCCCTGCGGTAGCGGTCAGTCAACGGGGGCAGGTCCCACGAAGTCACCTCAGCCAACACCTGGAAGGCACCGTCATGAGCCACCTGGGGGCTCCCCCGGCTCACCTCATCATTGCTCTGCAGCCATGAGCCACCCGGGGGCTCCCGGTGCCTGAGGCCCTGGCTCCCCCTCCGCTCTGCGGCTCACCTCGTCATTGCTCTGCAGCACATCAGGGATGAGGTCCTGTGGGGCCAGCAGGGCCCCCTCTTTCCGTAGGGTGAGCCTGGGCAGCAGCCCGCAGGTCTGGTAGTAGCGCTGGGCCGCCTGCTCGGCCAGCCAGGCCACAGAGTGGGTGTCACTGCTGCAGGGACAGAGGCGCTGCTGCTGCTGCCTGCACACAGCCGGGGTAATGCCCCAGGGACCCGCCATCCCTGCCCAGGGCCAGAAGCCCCCTCAGCTGCTTCTCCCATTCCCAGGTAGCCGGCCCCTCCTCTCCCTGCAGCCCAGCACACCACCAGCCCCTCTGCTATTCCTGGGGGCCACAGGATCCTCCTGGAACACACCAGGGAGCCCTCGTCACACGCCCCACCCTGACATGCAAACACGAGCACCCTGGCATGGAGCTGCACAGGTGGGCTGCGGGGTAGGGCAGGCGATGCCTCACCTGTGTGGGACAGGGATGAGGAAGAGATGATCCTGAACTTGAACTCGAACCCGGATGGGAGGGGGCGGGGCCGGACCCTGGCAGGTGAAGGCAGCAGGGCTGAGTCAGGAGCCACAGTGGGCTCCACCCTACACCTGCCTGCCCGGAGTGGGGAGAGGGCTCTGCTCCAGG | CTGTCGCCCAGGGTGGAGTGCGGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCTGTTCTCCTGCCTGTCTCCCAAGTAGCTGGGACTCCAGGAGCCCGTCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGATGGTGTTTCACCATGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCTACCACGCCCAGCCTGTTTTTTTCTTTTTCTTTCTTTTTTTTTTTTTTTGAGACGGAATCTCGCTCTGTCACCCAGGCTGGGTGCAATGGTGCAATCTAGGCTCACTGCAACCTCTGCCTCCCGGGTTCAACCAATTCTCTGCCTCAGCATCCCGAGTAGCTGGGATTACAGGTACCCGCCACCACGCCTGGGTAATTTTTGTATTTTTACTAGAGACAAGGTTTCACCATGTTGGCCAGGCTGCTTTTGAACTCCTGACCTTGTGATCCACCCCCTTCGGCCTCCCAAAGTACTGGGATTACAGGCGTGAGCCACCGCGCCTGGCCCCCCAGCTGTTTTTTCTAAACCTCCAAACCTCTAACTCTCTCTGTAGAGCCCCTCAGCGAGTTCAGCCCGAATCTGGGGAGAGGCGAGCTCCTCCCAGCAACCCTGGGACCTTTGGCCTCTGAGGCTCAGTATTTTCTGGGTTCTTCCCCACCTCGTACCTTGGCCAGGTATCGGAATACAGGCTCCATGAGGTCCGAATCACCCTTGCCGGCTGCCACGGAGCTGAGCTCTAAGTGCAGGAGGGTGCCGGCGGGCAGGCTCTGCAGGGTCCTGGCCAGGGCAGGGGCTCCCAGGGCGTTGTAGGACAGGGACAGGGTCTTCAGGTGCTCAGCATCTGCACCGGGGCCAGAATCCGTCAGCCCCACGTGGCCACAGCCCTGTACCCACCCCAAGTTCTGGGCCCAGAACCCTCAGGACCCCTTTGGGGAAACCACTACCGCAGTGCTCGCAGGGTGGGGTGGCAAGTGCAGAGGCAAAGGCTCTCGCCCAGATTCTCCCAGCTGGGAGGGCGGGGCCAGACTTCCAAGCTCGGCTGCCCCCAGTTCTGGACAACTTGCCCTCTCCCACCCCACAACCACACGGTCCTGGGCCACATGCCTCTGCACAGTGGGGGTGCCAGGGGAGTGCACTGACCATTGCTGCCCCCCTTACACTCCCCCTGGATGACACCCAATTCCCAGCCTCTTGGCACTGGGACCCCAGTCTCTGCAGCCTGAGTGGGCTCACAGTGGAACTGCCTCAGGCGAACAGCACTCAGCTGGCGAGCACGGGATGGGGACCACAGGACACTAGCTGCCCGGACTCTGCTCTCGGTGTGTCCTGCGGGGGTCAGCCTGGCTGGGTGGGCACCAGACGCCCCTCGGAGGCAGACCCTGTACCCACACATCCATCTATTGCTCCCAGGTGCCAGGCCCTCCCGGAGAGCCAGGTCTGGCATCCCAGGCCCCTAGACGTTGTTTGTTTCGTTTTTTTGACACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAACGGCGCGATCTCGGCTCACTGCAAGCTCCGCTTCCCGGGTTCATGCCATTCTCCTGCCTCAGCCTCCTGCGTAGCTGGGACTACAGGCACCGGCCACCACGCCCAGCTAATTGTATTTTTAATAGAGACGGCGTTTCACCGTGTTAGCCAGGATGGTCTCGATATCCTGACCTCGTGATCTGCCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCCGGCCTAGACGCTTTTTTCTTAAGGGATGGGGTCTCACTATGTGGGCCAGGCTTTCCTGGAACTCTTGGCTCAAGCGATACTCCCGCCTCAGCCTCTCAAGTAGCTGGGACCACAGGTGTTGCCCCTGTGTGCCCAGCCTGGGCCCCCTCTGAAAGTCCTGGAAACCCTCAATGCCCCAGGGCTAGGGAGTGGACAGGGAGTGCCTGGTCAGCTCACCTTGGAAAGCCTACCCAGTGCTGTCTGGTGGCTCAGAAAGAAGCTGGGGCCGAAGCCACACGCCTGCAGGCGCAGGGTGCTGAGTAAGGGGCAGGCGTGCAGGAGGGAGGCCAGGGACTGGCCACAGCCGTCCCCCAGGGGGTTCATGCTTAAGTCCAGCTCCTCCAAACTCTGTGGAAGACACAGGCTGGCAGTGAGCCCCCAGCAGTCCCACGGACAGGGTCCCCCTTGGGGCTTGGCTTGGCAGTCTCTTCCCCACCTTGCCTGGCATAGCCTATTACAGCCGGGCACTGGCTGGCTCTCCCAACTACCCTAGACCACCCAGGGACCTGCAGAATGGGAACCCCAACTCCCCGCTGTTGAGGGCCTGCTGCTCTCTGTGCCTATACCTGCAAGGTGGCTTGGCCTGGGAGCCCCATGGCAAGCTGGCGCAGGCCTTCGGGACCCAGGTGATTGGAGGAGAGGTCAAGGAGGGCCAGGCTGGGCATGGTGCCCAGGGCAGCCACCAGCTCAGCCACACACTTGTCCCCCAGCCGGTTCCCTGCCAGGCGCAGCTCCCGGAGTGCTGTGTGCAGCTTGAGGGCCCGCAGCAGGGGTGTAAGCTGGGCCTGGTCCAGGGCCAGGGAGCAGGCGCTGAACGAGAGGCCCAAGCCCTGGAGCTCCACGGCCTGCAGCACCTGTTGGTGCTCCCCTGCGGGAGGGATGTGATGTCACCAGGGTAAGGCCGGCCCTTTCTGCCCTCTGAATCCCAGAGGGCAAACCAGGCAGCCCCTTTTCAACAGCCCCAGGGGTCACCCACCAGACTTGCTGTAGAGCCCACTCGCACATGCCTGTGGGTCTAGCACTGTGAGGCCCTGGGGGCCGGGGTGGGTCTGCAGCACCCTGAGCTCCACCAGTCACTGCCAGATTCCACACCCCCCGGGACAAGCTTTCTGGGAAGCTTCCCCAGCAGCTCCCAGCCCATGCCAGGCCCTCCTCCTTGGGTTTGACTTTCCAGGCTTTCGGCTGCTTTTTGCCATCTCCCTGTCAGCAGATCATGGGGGCTGAGGGCTGTCCTCTCCCTTCCACCCACACATCCAAGTGCAGGACACAGCACCCACCAGGCTGGGGGAGGTGCACCCCAAAACACCCGAGGCCCAGGAATGAACCGGGCTGGTGGAGCCTGTGTGCCCAACCCCCTTGTACGACCTCACCCAGAAACTGCAGCTCTCCTGGCCCTCACCTTGCCCCAGGCTCTGGCAGGCCCTGCGGTAGCGGTCAGTCAACGGGGGCAGGTCCCACGAAGTCACCTCAGCCAACACCTGGAAGGCACCGTCATGAGCCACCTGGGGGCTCCCCCGGCTCACCTCATCATTGCTCTGCAGCCATGAGCCACCCGGGGGCTCCCGGTGCCTGAGGCCCTGGCTCCCCCTCCGCTCTGCGGCTCACCTCGTCATTGCTCTGCAGCACATCAGGGATGAGGTCCTGTGGGGCCAGCAGGGCCCCCTCTTTCCGTAGGGTGAGCCTGGGCAGCAGCCCGCAGGTCTGGTAGTAGCGCTGGGCCGCCTGCTCGGCCAGCCAGGCCACAGAGTGGGTGTCACTGCTGCAGGGACAGAGGCGCTGCTGCTGCTGCCTGCACACAGCCGGGGTAATGCCCCAGGGACCCGCCATCCCTGCCCAGGGCCAGAAGCCCCCTCAGCTGCTTCTCCCATTCCCAGGTAGCCGGCCCCTCCTCTCCCTGCAGCCCAGCACACCACCAGCCCCTCTGCTATTCCTGGGGGCCACAGGATCCTCCTGGAACACACCAGGGAGCCCTCGTCACACGCCCCACCCTGACATGCAAACACGAGCACCCTGGCATGGAGCTGCACAGGTGGGCTGCGGGGTAGGGCAGGCGATGCCTCACCTGTGTGGGACAGGGATGAGGAAGAGATGATCCTGAACTTGAACTCGAACCCGGATGGGAGGGGGCGGGGCCGGACCCTGGCAGGTGAAGGCAGCAGGGCTGAGTCAGGAGCCACAGTGGGCTCCACCCTACACCTGCCTGCCCGGAGTGGGGAGAGGGCTCTGCTCCAGGN | pathogenic | 140,713 |
Subsets and Splits
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