Datasets:
wanglab
/
variant_effect_non_snv

Dataset card Data Studio Files
xet
Community
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
Considering the variant on chromosome 17, location 43067662, involving gene BRCA1 (BRCA1 DNA repair associated), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTAC
AGATCGTGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACNNN
pathogenic
272,563
The chromosome 17, position 43067668 genetic variant in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCC
TGCCATTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGC
pathogenic
272,564
The mutation impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17 at position 43067673: benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTT
TTGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCGTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTT
pathogenic
272,566
Is the genetic change at chromosome 17, position 43067674, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTA
TGCACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTA
pathogenic
272,568
Does the variant on chromosome 17 at location 43067676 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGT
CACTCCAGCAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTN
pathogenic
272,570
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43067684—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGAT
CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGA
pathogenic
272,574
Chromosome 17, position 43067684, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGAT
CAGCCTGGGCAACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTATACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGG
pathogenic
272,575
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43067694, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCATCTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCC
AACAAGAGTGAAAAACTACACCTCAAAAACAAAAACAAAAACAAAAGAATCATCATCAAGTGAACTGGAACACATCCAGAGAACTAATTTTGTTAGAAAGATTTTAGAGTTGAGCCACACAATCTGCATCTTCTGCGTCCTCCATGCACTCGTCTGCTTTCTGGAGCCCCATGAGTGAGTCTTAATCCTGTTCCAGATAACAGTTCTCTTCCGGGTAACGGTTCTTCAGATACTTGAAGACAGTGTCTTATTTCCTTAAATCTTCTCATTTCTTCTTCAAAAGACAGTATTTCAAGTTACTTTTATGTATCTTTACCATCTACCTCTGGATAAACACTCTCCAATTTGTCAGTGACCATGTTAAAAACCAAGCACGGTGCTTAAAACTGACATCATCTTTCAGGCAATCACTCCATTGGAGAATACAGTGGGGCTCTGGATCTGTACTTCACTTGCTCCAGAGCCTCTGCTTGTGTTAATACGGCCCAGTTTCAAATAAGCATTTTTAGCAGCCCTGAAATGTGTACTCAGATTTAGTTTATAGTCAACTAAAAACACCCAGAGGTCTCCTGTATTACACAAGTTATAATTAAAACCTTAAAAGAGAAAGGTATAGGACAAATGATCTGTCTCCTCCCTTTTTTGCTTTTTCATATGTTAAGACTATCTCGGAGCTGTTATCAGACTTTTTTCCTGAAAAACTCTCAACAATACTCAAACTAGGTGTTACATGAAGCTGGGGTCTCCAGGTTTTGCCTCACTTGTTCTTTCTTTTGTTGTTGTTGAGACAGAGTCTCACTCTGTCGCCAGGCTGGAGTGCAGTGGCAGGATCTCAGCTGACTGCAACCTCAGCCTCCAGAGTTCAAGCAATTCTTCTGTGTCAGCCTCCCAAGTAGCTGGGATTACAGGTGCACACCACCACGCCCAGCCAATTTATGTATTTTTAGTAGAGACTGGGTTTTACCATATTGGCCAGGCTGGTCTCGAACTCCTGACCTTGTGATCTGCCCGCCTCAGGCTCCCAAAGTGCTGGGATTACTGATGCGAGCCACCGCGTCCAGCTGCCTCACTTGTTGTTTTAGGACTTAGGCTCCACCTCACCAGTGTAGTCCCAGCAGGTAGATAGGAGTTAATAGTTGACTATCTCAGCTCACCACCCTCCAAACCTTTTTTTTTTTTTTTTTTTTTTGAGACAAGAATCTCGCTCTTGTCCCCAGGCTGGAGTGCAATGGTGCGATCTTGGGTCACTGCAACCTCCACCTCCTGGGTTCAAGCGATTCTGCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGTGCCTGCCACCACGCCCACCTAATTTTTATATTTTTAGTAGAGACGGGGTTTCAACACGTTGGCCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGAGATTACAGGTGTGAGCCACCGTGCCTGGCCCACACTCCAAATCTTAACCCAAAACAAAAGGAGGTAAGGAAGCAGCAAAACTATTATTTGTCTTTCATAAAGTAATTGATTGACTATTAGAAGACTATCATCCATGCTATGCTCAACAAATATTCTTATTTTTTCACGTTTTTTTTTTTTTTTTTTGAGACGGAGCCTTGCTCTGTCGCCAGGCTGGAATGCAGTGGCATGATCTCGGCTCACTGCAACCTCCATCTCCCCGGTTCAAGTGATTCTCCTGCCTCAGCCTCACGAGTAGCTGGGACTACAGGCGCACGCGACCACACCCAGCTAATTTTTTTATTTTTTAGTAGAGACGGGGTTTCACCATGCTGGCCAGGATGGTCTCGATCTCCTAATCTCGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGCGATTACAGGCATGCGCCACCGTGCCTCGCCTCATGTGGTTTTATGCAGCAGATGCAAGGTATTCTGTAAAGGTTCTTGGTATACCTGTTTTCATAACAACATGAGTAGTCTCTTCAGTAATTAGATTAGTTAAAGTGATGTGGTGTTTTCTGGCAAACTTGTACACGAGCACTGAAATTAAATCAAATATTCCATTATCATGAGTTACCTCTAGCACACAGCTCAGAATACTAGTTATTCCACCATGGCATATGTTTACCTATGTAGCAATCCTGCACGTTCTACACGTGTCCTGGAACTATTTAAAGTGAATTTTTTTTTTTTTTTTTTTAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGGTAAAAAAAAAAAAAAAAAAAAAATAGAATACCAGTTATCCTAGCTTTAAGTCTCTGTTTTTCTCAGAAAGGGTACATTTAAAAAATTCTAAGACACCTGAAGTCTCGGCTGGGCGCGGTGGCTCACGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGCGGGCAGATCACAAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGCACCTGTAGTCTCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCAGGAAGCAGAGCTTGCAGTAAGCCGAGATGGCGCCACTGCACTCTAGCCTGGGCGAGAGTGCGAGACTCCGTCTCAAAAAAAAAAAAAAGATACCTGAAGTCTCAAATAAATAGTTTAATAAAAATTATGTACACATCAGCAGACATAAAATTACAACTAAGGATTCAAAATAATATTATAAACCTACTACGTACCACAAAACTTAAAACTTAAAAAATATATACTGGGCCAGACACGGCAGCTCATGCCTATAATCCCAGCACTTTGGGAAGCTGAGGTGGGAGGACTGCTTGAGCTCAAGAGTCTGAGACCAAGACCAGCCTGGGCAATACAGTGAGATTTCATGTCTTTAAAAAAAAAAAAAAGTAAAAAGAAAAAATATATATTAATTTTGCTTTAATAGCAGATATCATTCGATTCCCTAAGATCGTTTCTTTGCATAGTGACACTCTACTGTACTATAAATTTATCAGCCTACACTTTATAAGCTGAGAGGTAACTAGCCTACACAGAAAGTTATGCTACAGATATACATGGCTTAAAACCAAGACTCAACCCTCTGATAGTTACAAAACACTGAAATCAGGATGTTACTAAAGGTCAGTGCAAAAGCGATCAATTCTCTCGTAAGAAGGCTTAGAAGGGGTTCATGTTCTTCCCCAAAGAAATTTAGAGTCCTCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCN
pathogenic
272,582
Considering the genetic mutation at chromosome 17, position 43070929, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCC
TCTAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCNNNNNNNNNNNNNNNNNNN
pathogenic
272,619
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43070931: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['BRCA1-related_cancer_predisposition', 'Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast', 'Ovarian_neoplasm']
TAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAA
TAGCTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAANNNNNNNNNNNNNNNNNNN
pathogenic
272,620
Does the variant on chromosome 17 at location 43070934 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGT
CTATTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTNNNNNNNNNNNNNNNN
pathogenic
272,622
Variant at chromosome position 43070937, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4']
TTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACT
TTATCTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTN
pathogenic
272,625
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43070941, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGA
CTATCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGAN
pathogenic
272,627
Evaluate this variant at chromosome 17, position 43070944, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the disease connection(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTA
TCAACCAAATAAAAATCAATAGGCAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTAN
pathogenic
272,630
Classify the chromosome 17 variant at position 43070967 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Fanconi_anemia,_complementation_group_S', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Pancreatic_cancer,_susceptibility_to,_4']
CAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAAT
CAGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATAAAATTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAA
pathogenic
272,638
Variant chromosome 17, position 43070968, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm']
AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATC
AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCN
pathogenic
272,639
Chromosome 17, position 43070968, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic variant? If pathogenic, what are the linked illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATC
AGCAAAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCNN
pathogenic
272,640
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome 17, position 43070972—is it benign or pathogenic? If pathogenic, what are the associated condition(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTC
AAAGAAATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCN
pathogenic
272,644
Determine whether the variant at chromosome 17, position 43070977, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_carcinoma', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome', 'Ovarian_neoplasm']
AATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTAT
AATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATN
pathogenic
272,646
Does the variant on chromosome 17 at location 43070978 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATT
ATTAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACTTCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTA
pathogenic
272,647
Chromosome 17, position 43070980, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_breast_ovarian_cancer_syndrome', 'Ovarian_neoplasm']
TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTT
TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATT
pathogenic
272,648
Variant at chromosome 17, position 43070980, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTT
TAACCAGATCAATTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTN
pathogenic
272,649
Classify the chromosome 17 variant at position 43070992 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAG
TTATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGN
pathogenic
272,653
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43070994 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
ATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGT
ATGGGCACAGTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTNNNNNNNNNNNNNNNNNNN
pathogenic
272,654
Is chromosome 17, position 43071003, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast', 'Hereditary_cancer-predisposing_syndrome']
GTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCA
GTTGACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAN
pathogenic
272,658
A genetic alteration at chromosome 17, position 43071007, in gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) is involved?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
ACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTT
ACCTAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTNN
pathogenic
272,661
Does the variant on chromosome 17 at location 43071010 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGT
TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGG
pathogenic
272,662
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43071010—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome', 'Malignant_tumor_of_breast']
TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGT
TAGCTGGTAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTN
pathogenic
272,663
Classify the chromosome 17 variant at position 43071017 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGG
TAGGTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGNN
pathogenic
272,667
Is chromosome 17, position 43071020, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTC
GTATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCNNNNNNN
pathogenic
272,668
Chromosome 17, position 43071022, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCAC
ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCA
pathogenic
272,670
For chromosome 17, position 43071022, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCAC
ATTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACN
pathogenic
272,671
Classify the chromosome 17 variant at position 43071023 affecting gene BRCA1 (BRCA1 DNA repair associated) as benign or pathogenic. If pathogenic, which disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
TTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACA
TTGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACANNNNNNNN
pathogenic
272,672
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 17, position 43071024, gene BRCA1 (BRCA1 DNA repair associated). What disease(s) is it linked to if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACAC
TGTCTGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACNN
pathogenic
272,673
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43071028, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_and/or_ovarian_cancer', 'Hereditary_breast_ovarian_cancer_syndrome']
TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTAT
TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTA
pathogenic
272,675
A genetic variant at chromosome 17, position 43071028, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTAT
TGATAAATAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATNNNNNNNNNNNNN
pathogenic
272,676
Is the genetic mutation found on chromosome 17 at position 43071035, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCA
TAACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCAATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCC
pathogenic
272,679
Variant on chromosome 17, at position 43071036, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
AACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAG
AACTTTGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGN
pathogenic
272,680
Located at chromosome 17 position 43071041, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
TGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTT
TGTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTN
pathogenic
272,683
Clinical significance of chromosome 17, position 43071042, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Hereditary_cancer-predisposing_syndrome']
GTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTT
GTTTACCAAGGGCCATCATTTACTAGCCATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTNNNNNNNNNN
pathogenic
272,686
Considering the genetic mutation at chromosome 17, position 43071070, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGA
ATAGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATG
pathogenic
272,694
Is the chromosome 17, position 43071072 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGG
AGCCACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAG
pathogenic
272,695
Regarding the variant at chromosome 17 and position 43071075, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCA
CACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGAGCTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCC
pathogenic
272,697
Does the chromosome 17 mutation at position 43071076 within gene BRCA1 (BRCA1 DNA repair associated) classify as benign or pathogenic? If pathogenic, indicate the related illness(es).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAG
ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGN
pathogenic
272,698
Evaluate if the mutation on chromosome 17 at position 43071076 in BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. Disease name(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAG
ACAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGAGGCCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCA
pathogenic
272,699
Determine whether the variant at chromosome 17, position 43071077, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
CAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGG
CAGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAG
pathogenic
272,702
Does the genetic variant at chromosome 17, position 43071078, impacting gene BRCA1 (BRCA1 DNA repair associated), appear benign or pathogenic? If pathogenic, name the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGA
AGCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGANN
pathogenic
272,703
Is the genetic mutation found on chromosome 17 at position 43071079, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAG
GCCACTCACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGN
pathogenic
272,704
Clinical classification of chromosome 17, position 43071085, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAG
CACACCAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGAATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGA
pathogenic
272,707
Gene mutation in BRCA1 (BRCA1 DNA repair associated) at chromosome 17, position 43071090—is it benign or pathogenic? If pathogenic, specify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAG
CAGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTCGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCA
pathogenic
272,708
Chromosome 17, position 43071091, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
AGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGC
AGTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAG
pathogenic
272,709
Variant at chromosome 17, position 43071092, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCC
GTATTTACGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCN
pathogenic
272,710
Considering the genetic mutation at chromosome 17, position 43071099, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
CGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAA
CGTGTTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATAAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCG
pathogenic
272,713
Is the genetic change at chromosome 17, position 43071103, within gene BRCA1 (BRCA1 DNA repair associated) benign or pathogenic? Name the disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATA
TTGCACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAN
pathogenic
272,717
Is the chromosome 17, position 43071107 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAA
ACAATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAN
pathogenic
272,719
Gene BRCA1 (BRCA1 DNA repair associated) variant at chromosome position 43071110 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGAC
ATACTGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACN
pathogenic
272,720
Mutation at chromosome 17, position 43071114, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
TGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGT
TGCCATGAAGGTCAGGCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCG
pathogenic
272,723
A genetic variant at chromosome 17, position 43071129, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCC
GCCATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCN
pathogenic
272,729
Variant at chromosome position 43071132, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
ATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAA
ATCTTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAAN
pathogenic
272,731
Is the variant located on chromosome 17 at position 43071135, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, specify the disease(s) linked.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_cancer-predisposing_syndrome']
TTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTA
TTTCTTTCATGTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGGTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTANNNN
pathogenic
272,732
Does the variant on chromosome 17 at location 43071145 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome']
GTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTAT
GTTGCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAAACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATN
pathogenic
272,734
For chromosome 17, position 43071148, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCC
GCCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCNN
pathogenic
272,738
A genetic variant on chromosome 17, position 43071149, affects the gene BRCA1 (BRCA1 DNA repair associated). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Familial_cancer_of_breast']
CCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCC
CCTCACTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCN
pathogenic
272,739
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43071154—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATAT
CTCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGTACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATA
pathogenic
272,743
Is the chromosome 17, position 43071155 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATT
TCCATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGATCTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATAT
pathogenic
272,744
Considering the genetic mutation at chromosome 17, position 43071158, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTC
ATACTGCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCNN
pathogenic
272,746
Variant chromosome 17, position 43071163, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
GCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATT
GCCACAGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTNN
pathogenic
272,748
Does the variant impacting BRCA1 (BRCA1 DNA repair associated) on chromosome 17, position 43071168, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGG
AGGGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGN
pathogenic
272,751
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43071170, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGC
GGCACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCN
pathogenic
272,752
Determine if the mutation at chromosome 17, position 43071173 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
ACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAAT
ACTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTT
pathogenic
272,755
Variant chromosome 17, position 43071174, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATG
CTGAAAAAAGGCAGGCTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGNNNN
pathogenic
272,757
Considering the genetic mutation at chromosome 17, position 43071189, impacting BRCA1 (BRCA1 DNA repair associated): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTT
CTAGAGAAGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTN
pathogenic
272,763
Mutation at chromosome 17, position 43071196, within BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, indicate the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
AGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGA
AGCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAN
pathogenic
272,765
Is the genetic variant on chromosome 17, position 43071197, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAA
GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAANN
pathogenic
272,766
Determine if the mutation at chromosome 17, position 43071197 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAA
GCTAATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAANNNNN
pathogenic
272,767
Variant at chromosome 17, position 43071201, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Hereditary_breast_ovarian_cancer_syndrome']
ATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGA
ATGACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAN
pathogenic
272,768
A genetic variant at chromosome 17, position 43071204, affecting gene BRCA1 (BRCA1 DNA repair associated)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAA
ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAA
pathogenic
272,770
Is chromosome 17, position 43071204, gene BRCA1 (BRCA1 DNA repair associated) variant benign or pathogenic? If pathogenic, what condition(s) is it related to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAA
ACATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAATCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAANNNNNNNNNN
pathogenic
272,771
Variant on chromosome 17, at position 43071205, affecting BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAA
CATCCTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAANNNNNNNNNN
pathogenic
272,772
Variant at chromosome position 43071209, chromosome 17, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what condition(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAG
CTCCCCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAA
pathogenic
272,773
Is the genetic variant on chromosome 17, position 43071213, gene BRCA1 (BRCA1 DNA repair associated), benign or pathogenic? If pathogenic, what disease(s) is indicated?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
CCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGA
CCCTTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTT
pathogenic
272,774
Located at chromosome 17 position 43071216, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAA
TTTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCATGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAA
pathogenic
272,775
Regarding the variant found on chromosome 17 at position 43071217 in gene BRCA1 (BRCA1 DNA repair associated): is it benign or pathogenic? If pathogenic, identify the disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAA
TTTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGTATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAA
pathogenic
272,777
Is the genetic mutation found on chromosome 17 at position 43071218, within the gene BRCA1 (BRCA1 DNA repair associated), considered benign or pathogenic? If pathogenic, specify the associated disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
TTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAAT
TTGCTACCACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAA
pathogenic
272,778
Is the chromosome 17, position 43071225 variant in BRCA1 (BRCA1 DNA repair associated) clinically benign or pathogenic? If pathogenic, what condition(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome']
CACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAA
CACCCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCA
pathogenic
272,782
Variant in BRCA1 (BRCA1 DNA repair associated), chromosome 17, position 43071228—is this benign or pathogenic? If pathogenic, what disease(s) is linked?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATG
CCTCCGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGNN
pathogenic
272,783
Variant in gene BRCA1 (BRCA1 DNA repair associated), located at chromosome 17 position 43071232: benign or pathogenic? What disease(s) does it cause if pathogenic?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
CGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTT
CGCCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTN
pathogenic
272,787
Variant at chromosome 17, position 43071234, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Breast_neoplasm', 'Hereditary_cancer-predisposing_syndrome']
CCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTAT
CCAGGATCATTAGCAATTCTGAACTGATTAATTGCTGAAATCCCAGCCTTGAAACTGTTCAGTTAGAAGAGCAATGCTGAACTGCTGAAAAGATCATCTTAATATGGGCTTCAGAATTAATCATGTGTAATACAGTCAGTAGCTTTCATCATAAATTTACCACACTTCACCAAGTCTGAATAGAGCTCAAAGTTTTCCTCTTCGCTTGTTTAAAGACAACATGTACCCAAGCCACTTGTAGTCTAATCTGCAGCTCAGAATTGCCTTTGCCAAGAAAGATTAGACCATTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATNN
pathogenic
272,788
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 43071521, gene BRCA1 (BRCA1 DNA repair associated): what disease(s) if pathogenic?
benign
TTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCA
TTTTAGCCATCTCTAAAAAGCTGAACTTGCAAAACAAAGGGATAAAGAACGCTAATTTTCAATGAATAAATAAGGAATTCTGGACGTGCAGGCAAGTGATCAAGAGCCATTGAAACAGACACAGGTAAGAGCTTTCAGAGCAAATTGCTGGTCTGGACATGGGATTATGAGATGAAAACATTTATAGCCATCACTGTGCACTTACTCATTGTATCTACCAGGGCAGCCACAGCTTACTTTGCCCTTTTAGTAGTGGGATACATCTGGCCACAGAGATGTTATGCTAAGTAACTACCTATGGAGAAGTTAGGATGAAAAATCCTAGGAAGGATATATTAATAAAGATATTTCAGAATGACTTGGTCATCTCTCAGTGTGCAATAAATGGCACACCCACTACTGAATCCATTTGATAATCTGGTATGTTATCTCATCATAGTTTTAAAGAAATATTCACGCAATTCTTCTTCTTATTATTGAGACAGAGTTTCGCTCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATGTTCACTGTAACAATGCTTGTAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTG
benign
272,799
Clinical classification of chromosome 17, position 43072014, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? Disease(s) if pathogenic?
benign
TCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAA
TCTTGTTGCCCAGGCTGGAGTGCAATGGTGCAATCTCGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACGCCCGGCTAATTGTGTATTTTTAGTAAAGATGGGGTTTCTTCATGTTGGTCAGGCTGGTCTTGATCTCCTGACCTTAGGTGATCTGACCACCTCAGCCTCCCAAAGTGCTGGGATTACAGGCTTGAGCCACCATGCCCGGCCATGCAATTATTTTTATTATGAAGTGATGACAATGACAATTAATTACAGGGGTGGTAAACTTCTCAGGATGTCTGAAATCCACAAATAGCCCAAGCAGAAACGAGGTTTTACTGGTCTTAATATTTTAATGGGTATTTTTCCACAGTATGAAGCAATTCCCATTTCTGGCATTAAGGACCCAAGGTGATGCCAAAATCCTAATAGCAAGGGATATTGCAGGGCAGAAGTGGCAGGGCATTCTTACAAGCCAGGATGAAAACAAACACTAGAGAAATGCTACTATCTGGCAGTACATTTGGAACCAGTCTGAATTTAGTTAAATATGCTGGTAAATTCACCCATGTGAGACAAGGGGGAGAAAAAGATGCCTTCTGGGGAATAAAACTATACCTACTTGCTTTTACAGATAGAAAGGAAAATTCCAATTCGAAAGTCCTATATCATACCCAAAGTATAGCTTTTCCACTAATATTTAATAATTATTTTCTCAAGTAAATATACATAAAATAATCCACACTATAGCTTTATCTAGATCTAAATTTTCAGAAATTAGTAATCGAAATTAAATTACACAGAACTGTGATTGTTTTCTAGATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAAAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAAN
benign
272,800
Does the variant on chromosome 17 at location 43072875 affecting gene BRCA1 (BRCA1 DNA repair associated) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated?
benign
ATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGA
ATTTCTTCCTCTAGGTTATTAATTGACAATACCTACATAAAACTCTTTCCAGAATGTTGTTAAGTCTTAGTCATTAGGGAGATACATATGGATACACTCACAAATTCTTCTGGGGTCAGGCCAGACACCACCATGGACATTCTTTTGTTGACCCTTTCTGTTGAAGCTGTCAATTCTGGCTTCTCCCTGCTCACACTTTCTTCCATTGCATTATACCCAGCAGTATCAGTAGTATGAGCAGCAGCTGGACTCTGGGCAGATTCTGCAACTTTCAATTGGGGAACTTTCAATGCAGAGGTTGAAGATGGTATGTTGCCAACACGAGCTGACTCTGGGGCTCTGTCTTCAGAAGGATCAGATTCAGGGTCATCAGAGAAGAGGCTGATTCCAGATTCCAGGTAAGGGGTTCCCTCTGAAAGGAATGGGAGAAGTTTAATTTACACAACGATGAATGTTGAATTACAAAGTTCTGGTCTCTGTTAAGAATTAAAAAGACCAATAAAGTTAGGTTAAGAGAAAAATGGGTACATGAATACAGTGTTGGTGGAAATCCAAAGTAGCTTAGTTTCCTAAAAAGGAAATATGGCATTATGTAGCAAACACCTTAACACGTATTTACACTTTCAGTCAACAATGCTAGTTTTAGAAATATATCCTAGGGAGATAAAAGATATATGCAAAGGTTTAGTCATAGGAATAGTATAATTTTAGAAACAATGTAGTTGTCCAATAATAGGAGATTAAATTACGATATACCTAGTCCAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAG
benign
272,804
Determine whether the variant at chromosome 17, position 43073637, in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, identify the relevant disease(s).
benign
CAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCT
CAATGGAGTACTCTTCACCCATTAATTTGAATATAAATGTTGATGTACAATAAAACAGAAATGTTACTAATATATTAAAGACACCTAAGCAATATTATTTATCATGACATTATTTTAAAAATAAAAGTTTATGGGCCGAGCACGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGACGGGTGGATCACGAGGTCAGGAGATCAAGACCATCCTGGCTAACACAGTGAAACCCTGTCTCTACTGAAAATACAAAAAAAAAAATTAGCTGGGCGTGGTGGCGGGCGCCTGTAGTCCCGGCTACTAGGGAGGCTGAGGCAGGGGAATGGCGTGTACCCGGGAGGCAGAGCTTGCAGTGAGCTGAGATTGAGCCATTGCATTCCAGCCTGGGCAACAGAGCGAGACTCCGTCTCAAAAAAATAAATAAATAAAAATAAATAAATAAATAAAAGTTTATGTAAAATGACTAAAGAAACACAGAAATATTTTATTATTAAAGAATAAGAGTACAGGCCGGGTGCGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGTGGGCGGATCACCTGAGGTCAAGAGGTCGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGGTGCATGCCTGTAATCCCAGCTACTGGGGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTN
benign
272,807
Clinically, how would you classify the variant at chromosome 17, position 43074331, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, specify the associated illness(es).
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAAT
GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAA
pathogenic
272,827
For chromosome 17, position 43074331, gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAAT
GGAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATN
pathogenic
272,830
Chromosome 17, position 43074332, gene BRCA1 (BRCA1 DNA repair associated): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s).
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATG
GAGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGNNNNNNNNNNNNNNNNNNNN
pathogenic
272,831
Regarding the variant at chromosome 17 and position 43074333, affecting gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, what are the associated illness(es)?
pathogenic; ['Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
AGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGC
AGGCTGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCN
pathogenic
272,832
Located at chromosome 17 position 43074337, the variant affecting gene BRCA1 (BRCA1 DNA repair associated)—benign or pathogenic? If pathogenic, which disease(s) does it relate to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
TGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGT
TGAAGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTG
pathogenic
272,833
Variant at chromosome 17, position 43074340, gene BRCA1 (BRCA1 DNA repair associated): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved.
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1']
AGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATG
AGCAGGAGAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGNNNNNNNNNNNNNNNNNNNN
pathogenic
272,835
A mutation at chromosome position 43074347 on chromosome 17 in gene BRCA1 (BRCA1 DNA repair associated): benign or pathogenic? If pathogenic, which disease(s) is it linked to?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAA
GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAAN
pathogenic
272,837
Determine if the mutation at chromosome 17, position 43074347 in gene BRCA1 (BRCA1 DNA repair associated) is benign or pathogenic. If pathogenic, what disease(s) is associated?
pathogenic; ['Breast-ovarian_cancer,_familial,_susceptibility_to,_1', 'Hereditary_breast_ovarian_cancer_syndrome', 'Hereditary_cancer-predisposing_syndrome']
GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGTAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAA
GAATCGCTCGAACCCAGGAGGCGGAGGTTGCGCTGAGCCGAGATTGCGCCATTGCACTCCAGCCTGGGCAACAAGAGTGAAACTCCGTCTCAAAAAAGAGTACGGGTAATATTTTTTTTTTTGAGAAGGGTCTCGGTCTGTCATCCAGGCTGCAGTGCAGTGGCACAAACATGGCTCACCTGCAGCCTTGACCTCCTGGACTCAAGTGATCTTCCTGTCTCAGCCTCCTGAGTAGCTGGGACCACAGGTGTTTGCCACCTTCCAGCTGATTTTTTTTTTTTTTGAGATGGAGTTTCATTCTTGTTGCCCAGGCTAGAGTGCAATGGCGCGATCTCAGCTCACTGAAACCTCTGCCTCCCAGGTTCAAGCGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCATAAGCCACCAAGCCTGGCTAATTTTGTATTTTTAGTAGAGACAGGGTTTCTCCATATTGGTCAGGTTGGTCCTGAACTCCTGCCCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTAAGCCACCCACCACGCCTGGCCCCAGCTAGTTTTTTTTTTTTTTTACTTTTTATAGAGATCAGGTCTCGCTACATTGCCCAGGCTGGTCTTGAACTCTTGGCCTCGAGCAATTCTCCCACCTTGGCCTCCCAAAGTACTGAGATTACAGGCATGAGCAGTGGCTGTAATCTGTCCTTATTTTATCTTTTAAGAGGTGGCATCTCAGCTTGGTGAAGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCCAAGGTAGGAAGATTGCATGAGGCCAGGAGTTAGAGACCAGCCTCGGCAACATAACAAGACCCGTGTCTAACCCCACCCCAAATTATCTTTTTTATTCCCTATATTGTCCAATTTGGGGGCAATGAGCTTATAGCAATTTTGTAAGAAAGGAAAAAAAAGTTGAAAAATGTGGCAAATGCTTTATTTTTGTTTCTTCATCCAAGGTAATGACACCATTACTTTTTTCACTTAATAAATCAGCAGATATCATTACCAAATTAAAAACAGCAGAGATGTCATCCTTGAAACATTTCAGAAAATGCCATGGTATCAGGAATTAAGCATAGCTAAGTAGAATGTATGAGATTCCTAAAATGACCCTAATGAACATGGCCAAATACCACATTTGATGCCAAACAGTGTCTTTTATGATAACGTGTTTTTGAGGATTAAAAACTTTCTTTACTGATTAAAACTCTGATTTACAAGCCATAAAACACCATTCATTAAAAGTGATTTTTAAGGCATAAAATATGTAGTCATTTATATTCATTAACTCATAAAAAAAACTTGCTTTGGGATTTGACTCATTTTCTAATAAAGGACTGGCCTAAAACTTTATTCTTTGGCCTTTGGACTCTTGTCTAACAGTTGAAATAAAATATATGTGTGTATATATATATATATATATTTTTTGAGATGGAGTCTTGCTCTGTCACCCAGACTGGAGTGCAGTGGTGTGATCTTGGCTCACCGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTGCTGCCTCAGCCTCCAGAGTAGCTAGGATTACGGGCATGCACTAGCACACCCAGTTAATTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGCCAGACAGGTCTTGAACTCCTGACCTCAGCTGATCCACCTGCCTCGGCCTCCTGGAGTACTGGGATTACAGGCGTGAGCCACTATGCCTGGCCTGAAATAATACATTTAGAGTACACCAAGACTCCCTCATCCTCAAAATCATTAGTTAAACCATTAATTAAAATATAGATGGATTAACAGTTTCAATAATTTTCAAGTAAACCTTGATTAACACTTGAGCTATTTTTCTAAAGTGGGCTTAATTAAGTATAACAAAAGTGTCCATGATAGACTAGTACATCTAAAAGTTGGTTAACCAGAATATCTTTATGTAGGATTCAGAGTAAAATCAAAGTGTTTGTTCCAATACAGCAGATGAAATATTACCTAGATCTTGCCTTGGCAAGATGTTTCCGTCAAATCGTGTGGCCCAGACTCTTCCAGCTGTTGCTCCTCCACATCAACAACCTTAATGAGCTCCTCTTGAGATGGGTAGTTTCTATTCTGAAGACTCCCAGAGCAACTGTGCATGTACCACCTATCATCTAATGATGGGCATTTAGAAGGGGATGACCTAGAAAGATAAATGGAAGGAGAAAACCATCGCCACCAATTGTGAAAGGACAAATCATACTTGCTGGGCAGCCAAAGCATAAATGAAACAGCTCATGTCAGAGAGATCAGAAATGACTGGCAAAAAAGAGCCCGCAAGACAGCCTAGAAGTCTGGATTCATGTTGCCTGCCAATATGTCAGGGTTGACATATAACATGGGGTTGGGTTGGTCTGAGGCACCATATCTCCCAGCTGTTTAAAAGCAGGTCAGTAGCTGGGTGTGGTGGCTGGCGCCTGTAATCTCAGCTACTCGGGAGGCTGAGGCAGGAAAATTGCTTGAACCTGGGAGACAGAGGTTGCAGTGAGCCGAGATCACGCCACTGCACTCCAGCCTGAGTGACAGAGCAAGACTCTGTCAAGAAAGAAAGGAAAGGAAAGAAAGGAAAGAAAAGGAAAGGAAAGAAAGAAAAGAAAAGGAAGGGAGGAAGGAAAGAAAGGAAGAAAGGAAAGAAAGGAAAGAAAGAAGGAAAGAAGGAAGGAAGGGAGGGAAAGGAAAGGAAAGGACGGAAGGAAGGAAGGAAGGAAAGGAAGAAAGAAAGGAGGAAAGAATAAAAGCAGGTCAGCAAATTTTTACCAAATTACTCACTGCCACTCACTCTATACACAATATTCTACTTGAGTCTAAATGGATATGTTAGAATCAGATCTCTTATGAAGATAGAAAGTTGATCAATGTCGACATCTCTACACTCATTCTTTCTACTCAGTTTTAGCAGAATTCACAGAATCATCCCTATTGCCTGCCTTTTCAATGTTCAAATTCATTCTAAAAACAAAAGCCAGCTATAAAATATTGTTAGAAAAGCATACACACCCAGTAAATAGTTCCTCTGCTCTTCCAAGTGCTTAGGACTTTGCAAAATAAGATACTTATCAACAGATTTAAAGGGCCTCAGAGGTTAATTAATTTAAACAATTATTGGGTGCTTACTATGGGTCAAATACTAAGGCTAGGCCCCCTGGATTGAAGATGGGTGAGACCTGAATTACTGCTCTCTCTCTCTTTTTTTTTTTGTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAATGGCACGGTCCCAGCTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCACCTGCCACCACGCCTGGCCCTCCAGTAAGGAAAAGAATAGTACTGGACTACATAGTCCAGTACTGGACTGCTATACAGCCCTGTGTTAATAGTGGTGTAAATACACATCTCTGAAAGATATTCTAAATGTTTTCTGGCTTTGGGAGGGCAAGGCGGGCGGACTACTTGAGTCCAGGAATTTGAGACCAGCCTGGGCAACAAGGTAAAACTCCATCTCTACCAAAAATACAAAAACTTAGTGGGTGTGGGTGGCGCATGCTTGTGGACCCAGCTACTCAGGAGGCTAAGGTGGGAGGATTGCTTGAGCCTGAAAAACGGAGGATGCAGTGAGCCATGACTGCACCACTGCAATCTAGGTGACACAGGGCGACCCTGTCTCAAAAAATAATAATAATAGTAATTATTATTATTATTTTCTGTGGTAAATCAACAGCTAGACTTTTTCTAGAAAGACAAGAATTTTAATTAGGGCAAGGGCTGCCTTGAAGAAGTCTACCATCAGTTTCCAAGCTTGTTCAGGTTTTACCTCCATTATATTTTTTTCTGACCTTCAGAAGGGACATATCTATCTAACCGCACATTTCTCATGTTGTAGCTTATGTTATAGGTTCAAAAAACCTATATAGGATTAAACAAAAGAAGTATCCTAGAGCAATAAAAGTGTATAAATGCCTGTATGCAAAAAANNNN
pathogenic
272,838