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 |
|---|---|---|---|---|---|
Clinically, how would you classify the variant at chromosome 19, position 10986927, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | TCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTTAGACTTGTTCCTGCCCCAGGACCTTTGCACAGGCTGTGCATGGCTCCTTCTACTCATTCAGGCCTGATTGCTGGGGTTCCCTCCTCATGGAGGCCCTTCCTGTCACTTCCAGCCACTCTCTGGAATTGCAGTGGATATTTTATTTTTTTTAAATCTCCTTTATGGCCTGTGTTTTCTAATGAGACTGAGAGTTCCTTGCTTTGTTGTTCTTGTTTAGTGCTAAGGCCCTGCACTTAAAATGGTCCCTGGCATACAGTTGGTGCTCAATGAGTATGTGCAGAAAGACTGATTAAGAGAATTAGCCCACATAACCTTCGCATGTAACCTTCGTAACCTTCAGACCAAGCCTCTAGGGTCACTCCGAGGGGTTGCCTCAGTTTTGAGGTGAGAATGCTGAGGTGTG | TCTCTTTTGCATGTCCCTGGATGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTTAGACTTGTTCCTGCCCCAGGACCTTTGCACAGGCTGTGCATGGCTCCTTCTACTCATTCAGGCCTGATTGCTGGGGTTCCCTCCTCATGGAGGCCCTTCCTGTCACTTCCAGCCACTCTCTGGAATTGCAGTGGATATTTTATTTTTTTTAAATCTCCTTTATGGCCTGTGTTTTCTAATGAGACTGAGAGTTCCTTGCTTTGTTGTTCTTGTTTAGTGCTAAGGCCCTGCACTTAAAATGGTCCCTGGCATACAGTTGGTGCTCAATGAGTATGTGCAGAAAGACTGATTAAGAGAATTAGCCCACATAACCTTCGCATGTAACCTTCGTAACCTTCAGACCAAGCCTCTAGGGTCACTCCGAGGGGTTGCCTCAGTTTTGAGGTGAGAATGCTGAGGTGT | pathogenic | 296,498 |
Gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant at chromosome 19, position 10986948—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Intellectual_disability,_autosomal_dominant_16', 'Otosclerosis_12', 'Rhabdoid_tumor_predisposition_syndrome_2'] | TGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTTAGACTTGTTCCTGCCCCAGGACCTTTGCACAGGCTGTGCATGGCTCCTTCTACTCATTCAGGCCTGATTGCTGGGGTTCCCTCCTCATGGAGGCCCTTCCTGTCACTTCCAGCCACTCTCTGGAATTGCAGTGGATATTTTATTTTTTTTAAATCTCCTTTATGGCCTGTGTTTTCTAATGAGACTGAGAGTTCCTTGCTTTGTTGTTCTTGTTTAGTGCTAAGGCCCTGCACTTAAAATGGTCCCTGGCATACAGTTGGTGCTCAATGAGTATGTGCAGAAAGACTGATTAAGAGAATTAGCCCACATAACCTTCGCATGTAACCTTCGTAACCTTCAGACCAAGCCTCTAGGGTCACTCCGAGGGGTTGCCTCAGTTTTGAGGTGAGAATGCTGAGGTGTGCAGTTGAAATAGATTCCCACC | TGTGGTTAGAGGACATATTCCCTTATACATACAGCATCTGAAAGGAAAGGTCATATTAGCATCCATGAGAAAAGGTGACATTTCTAAGTGTCACGGGCCACAGGAGGTCCCGGGTGGTAGAAGATGAGGATTGCTTGACCACAGTCTCCCATATGCTCGTGCTCCACTGGGCGACATTTATTTTGTGTACCTGTCTCGAGGCCTAAGTAGGTGTCAGAACCTTGCCTTGGAGTCATGCTGGGGACTGGGGAGATGCGCGTCATCTTCGGGTGGCTGTTCTCGGTGCCCTCGAGCTTCTCTCGGGCAGCGCATAGCTGCGCTGCCACCTCACGTTCCACATGCTGACCCTGCCTTGCCATGGTCCCTCTCGCAGCCCATGGAGTCCATGCATGAGAAGGGCATGTCGGACGACCCGCGCTACAACCAGATGAAAGGAATGGGGATGCGGTCAGGGGGCCATGCTGGGATGGGGCCCCCGCCCAGCCCCATGGACCAGCACTCCCAAGGTACAGAACTGCGTTCCTTCCTGCCTTGTGTTTGTCATACTCCAGAGTCCTCAGATCATTTTCCTCCCCTGGGTTCCCACAGGATGGATTCAGGGAGTACCTAGGATGATGTAGCCGGGTGGGTGGCCCGCCACAGAGAGCTGTCTGGCATGGCGTGGCTGGTGCTCTGTTCTGGCCACCTCGTCTCGGAGCAGCCCTGGAAGGGGAAATGCTGGTTGGGGGGCAGACCATGTTCAGCATGGGTGATAGAGGAGGGCTGTGCAGGGCAGCAGCCCCGTGCCACCCAGGAACTTACTGGAAATACAGATTCCTGGGGCCTGGGACTCTGCTTTAATGAGCCCAGCAGGTGCCTTTTCTGTACGAGGACAATTGAGAAGTGATATGGTGGGTGACTTTCCAAGGCCTTGCTGTCATCAGGGGTGGGAAGCTCAGGGGCTGCACTGGGAATGGAAGTGTTGGGGGTGGGCCTGGCGAGCCCGAGGATGTGGACCCCGCCTGTGGACAGGCAGGCGGAAGCCGGGAGAGAGCCGTGATTTCATGCACAGGTTCTCAGCATTAACCAGAAGCACCTTACTGAGACGTGGGCCAAACCAAATCCACCAGGTCGGCTGCTGGGCTGAGGTGCCTTCAGCATGTGCCCTCCAGGTGCCCCTGGTTGACTCAAGAGAAGGATGCCATTTGGCTGTGCCCTGTCTCAGAGTAGGAGCTGGTGTAGGGGGAAGAGGCTGTAAAAATCACAGACATATGCTGCCGAGTGACCAGTGGGCTGACCTTTCTCTGCAGGTTACCCCTCGCCCCTGGGTGGCTCTGAGCATGCCTCTAGTCCAGTTCCAGCCAGTGGCCCGTCTTCGGGGCCCCAGATGTCTTCCGGGCCAGGAGGTGCCCCGCTGGATGGTGCTGACCCCCAGGCCTTGGGGCAGCAGAACCGGGGCCCAACCCCATTTAACCAGAACCAGCTGCACCAGCTCAGAGCTCAGATCATGGCCTACAAGATGCTGGCCAGGGGGCAGCCCCTCCCCGACCACCTGCAGATGGCGGTGCAGGGCAAGCGGCCGATGCCCGGGATGCAGCAGCAGATGCCAACGCTACCTCCACCCTCGGTGTCCGCAACAGGACCCGGCCCTGGCCCTGGCCCTGGCCCCGGCCCGGGTCCCGGCCCGGCACCTCCAAATTACAGCAGGCCTCATGGTAAGACTGGCTGCCCTGGCCCTCAGGTGTCTCAGAGCGAATGGCTGGGGCGTGGGTGGCGGGGTGGACAGACCGTGCTCTGTTGCCGACTGGGTTCCCCGGTTTGGGATTGCACGGGCCCATACTGCACTTCTGGGTGCTCGGGTGGTGGGGGCAGCTAAATGCTGCTTCCCCAGCTCCCCGCTTCCCCTGGGGCCGCTGGTTAATAGGTGTATCTGCTGTGTCCCCTGGAGCCAGGGCTGCCCACGGGGCTGGGCGCAGGCATAAACCTGGGACGCACTGTTTTCTCTTTTGTTTCTCCCTACATGTAGGTATGGGAGGGCCCAACATGCCTCCCCCAGGACCCTCGGGCGTGCCCCCCCGGGATGCCAGGCCAGCCTCCTGGAGGGCCTCCCAAGCCCTGGCCTGAAGGTGAGCTCCCTCTTCTATGGTGGTGCACCCGTGCCCTTACTCCCCATCTCAAGCTTGGGTCCTTGAGATGAGCTTTGTCAGGGAGAAAGGGCCGAGGGTGGTCAGGCTGAACTGCAGCCTGTACTTTTCTTGTGGTGGTCCCCGGGTCTCCCCTGTAGCCAGTCAGTTCCCAAAGGCTGTCGTTCATCCCTCCTCTGACAGCTTGTGGCCTTCACCCAGTCCCTGAGCCCTGTATATGTAATTGCTCAGTAAGTGCTGCAGGCTCCCATCTGTTGGGCTCAAAGAGGCAGTGGGACTCATTACCCATCCTCTTGGAGCCTGAGGTTTAGCGATGGGCATTGAGGGGCAAATTGCTTCCACTGGATTTAGTTGGCACTAGGAGGAGATGACAGGAAATGCTGCCATAGAGCCACAGACAGAACAAAAAGGCCTTGGGAGCCTGGGGCTGGCCCCAGTGGAGGGTGTGAAGGACGAGGGTGAGGCTGAGATCTGGAGGAGGTTGGAGCCCAAGGCAGGTGTGAAGGACACCCCTGGGTGAAAGGTGGGAGATGGGCGGGGTCTGCCTGTCCCCAGTGCCTCAAGCAGCTCAGCAGCTTTCCATTTCCAGCCCGGGATGGGCCCCAGAGCTCAACATGACGCCCTGGCCCCTTGCCTTCTCCCAGGACCCATGGCGAATGCTGCTGCCCCCACGAGCACCCCTCAGAAGCTGATTCCCCCGCAGCCAACGGGCCGCCCTTCCCCCGCGCCCCCTGCCGTCCCACCCGCCGCCTCGCCCGTGATGCCACCGCAGACCCAGTCCCCCGGGCAGCCGGCCCAGCCCGCGCCCATGGTGCCACTGCACCAGAAGCAGAGCCGCATCACCCCCATCCAGAAGCCGCGGGGCCTCGACCCTGTGGAGATCCTGCAGGAGCGCGAGTACAGGTGAGGGCGGGGCCCAGTTGCCAAGGTCACTGCCCTGTGTCCCCCATGTCCCCCTGGGGAAGCCACTCAACTTTCTCCCCCACTCTAGCAAACAGTGCCCTGTGCCCACCACTGCCACTTGGCCTACACCTCCTTCCTCACCTCCCTGCTCCCACCCTGGCTGCGGTCTGTTTCCCACACAGCAGTTTGAGTTCTCTCTCTTTTTTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCACGCTGGAGTGCAATGGCACAATCTCGGTTCACTGCAACCTGCATCTCCTGGCTTCAAGCGATTCTTCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATGCGCCACCACACCTGGCTAATTTTGTATTTATTTTAGTAGAGGCAGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAGCTCCTGACCTCAGATGCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCACCTGGCATGAATTCTCTTTTTATGATTGATATCAGATCTACTCCGTGGATTAAAACCTGCCTGTAGCTTCAATTATCTGCCCAATAAGCTTTGCCTTATGTCCACTCCTGCCCAGCATCCTTCCTCACCCATCCCAGTCTCTCTGTTCCTCTTTTCATTTATTTAACAAGTTAGACTTGTTCCTGCCCCAGGACCTTTGCACAGGCTGTGCATGGCTCCTTCTACTCATTCAGGCCTGATTGCTGGGGTTCCCTCCTCATGGAGGCCCTTCCTGTCACTTCCAGCCACTCTCTGGAATTGCAGTGGATATTTTATTTTTTTTAAATCTCCTTTATGGCCTGTGTTTTCTAATGAGACTGAGAGTTCCTTGCTTTGTTGTTCTTGTTTAGTGCTAAGGCCCTGCACTTAAAATGGTCCCTGGCATACAGTTGGTGCTCAATGAGTATGTGCAGAAAGACTGATTAAGAGAATTAGCCCACATAACCTTCGCATGTAACCTTCGTAACCTTCAGACCAAGCCTCTAGGGTCACTCCGAGGGGTTGCCTCAGTTTTGAGGTGAGAATGCTGAGGTGTGCAGTTGAAATAGATTCCCAC | pathogenic | 296,503 |
Is chromosome 19, position 10994880, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | CCGCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCTCCTGACCACCAACATTTTTTTATATATATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTACTTTTTGTACTTTTAGTAGAGATGGGGATTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCGCTGCTCCTGGCCACATCGCTTTGTTTTTAAGTATCATGGAAACATGACTTTTGATGTCTACACTGTATTCCATTTCTATGTGTCCAGGATCTAATCATTTATGTCACCTTTTTCCTGTTTGAGGACATGCAGCATGTTTCAGCTTTTGAAAATTAAAAATTATGCTAGGACCGGAATTCTTGGCTTGAACATTTTGGAGCTGGTCTCTGATATTTCCTTAAAATAAATTTGTAGTAATGGAATAAGTTGGGTGAAGGGTTGGAAGCATTTTTGAGACATTTCACATCCGTGCCATGCTGCCCTGCCAGTCGACTGCACTGTGTGCCTACCTGCTGTGTTTGAGGGCCTTTCCCACCCACAGTTGCCGGTGCTTAGTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTGCTGGGTTCATGCCATTCTTCTGCCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTATCGATCTGACCTTGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCCGCCAGTGCTGAGTTTTATCATCAGAGAGAGAAACCCAACCGCGGCAGGCAAAGGGTGTCCCTTTATTGTTTTCATAATAGTCTCGTTTTTATTTTATGTATTATATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTCTGTCTCCTGGATTCAAGCGATTCCCCTGCTTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATATTTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTG | CCGCCTGCCTCGGCTTCCCAAAGTGCTGGGATTACAGACGTGAGCCACTGCTCCTGACCACCAACATTTTTTTATATATATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTACTTTTTGTACTTTTAGTAGAGATGGGGATTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCGCTGCTCCTGGCCACATCGCTTTGTTTTTAAGTATCATGGAAACATGACTTTTGATGTCTACACTGTATTCCATTTCTATGTGTCCAGGATCTAATCATTTATGTCACCTTTTTCCTGTTTGAGGACATGCAGCATGTTTCAGCTTTTGAAAATTAAAAATTATGCTAGGACCGGAATTCTTGGCTTGAACATTTTGGAGCTGGTCTCTGATATTTCCTTAAAATAAATTTGTAGTAATGGAATAAGTTGGGTGAAGGGTTGGAAGCATTTTTGAGACATTTCACATCCGTGCCATGCTGCCCTGCCAGTCGACTGCACTGTGTGCCTACCTGCTGTGTTTGAGGGCCTTTCCCACCCACAGTTGCCGGTGCTTAGTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTGCTGGGTTCATGCCATTCTTCTGCCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTATCGATCTGACCTTGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCCGCCAGTGCTGAGTTTTATCATCAGAGAGAGAAACCCAACCGCGGCAGGCAAAGGGTGTCCCTTTATTGTTTTCATAATAGTCTCGTTTTTATTTTATGTATTATATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTCTGTCTCCTGGATTCAAGCGATTCCCCTGCTTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATATTTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGGCAAAATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTG | pathogenic | 296,661 |
Mutation found at chromosome 19 position 10994958, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | TATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTACTTTTTGTACTTTTAGTAGAGATGGGGATTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCGCTGCTCCTGGCCACATCGCTTTGTTTTTAAGTATCATGGAAACATGACTTTTGATGTCTACACTGTATTCCATTTCTATGTGTCCAGGATCTAATCATTTATGTCACCTTTTTCCTGTTTGAGGACATGCAGCATGTTTCAGCTTTTGAAAATTAAAAATTATGCTAGGACCGGAATTCTTGGCTTGAACATTTTGGAGCTGGTCTCTGATATTTCCTTAAAATAAATTTGTAGTAATGGAATAAGTTGGGTGAAGGGTTGGAAGCATTTTTGAGACATTTCACATCCGTGCCATGCTGCCCTGCCAGTCGACTGCACTGTGTGCCTACCTGCTGTGTTTGAGGGCCTTTCCCACCCACAGTTGCCGGTGCTTAGTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTGCTGGGTTCATGCCATTCTTCTGCCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTATCGATCTGACCTTGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCCGCCAGTGCTGAGTTTTATCATCAGAGAGAGAAACCCAACCGCGGCAGGCAAAGGGTGTCCCTTTATTGTTTTCATAATAGTCTCGTTTTTATTTTATGTATTATATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTCTGTCTCCTGGATTCAAGCGATTCCCCTGCTTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATATTTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCC | TATTATTTCAGCCTTTTTTCTTGTATATTAATACAAGGTTAAATAGCCCTTTTTAAATTTTTTCTAAAACTTTGCTTTTTTTTTTTTTTTTTTTGAGTCAGAATCTCACTCTGTTGCCCAGGCTGGAGTGCAGTGGCACGATCTCCACTCACTGCAGCCTCTGTCTTCTGGGTTCAAGCGATTCTCCTGCCTTAGCCACCTGAGCAGCTGGAATTACAGGTGTGCACCACCACACCTGGCTACTTTTTGTACTTTTAGTAGAGATGGGGATTCACCCTGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCAAGTGATCCGCCTGCCTTGGCCTTCCAAAGTGCTGGAATTACAGGCGTGAGCCGCTGCTCCTGGCCACATCGCTTTGTTTTTAAGTATCATGGAAACATGACTTTTGATGTCTACACTGTATTCCATTTCTATGTGTCCAGGATCTAATCATTTATGTCACCTTTTTCCTGTTTGAGGACATGCAGCATGTTTCAGCTTTTGAAAATTAAAAATTATGCTAGGACCGGAATTCTTGGCTTGAACATTTTGGAGCTGGTCTCTGATATTTCCTTAAAATAAATTTGTAGTAATGGAATAAGTTGGGTGAAGGGTTGGAAGCATTTTTGAGACATTTCACATCCGTGCCATGCTGCCCTGCCAGTCGACTGCACTGTGTGCCTACCTGCTGTGTTTGAGGGCCTTTCCCACCCACAGTTGCCGGTGCTTAGTTTGTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCGCCCACGCTGGAGTGCAGTGGCGCGATCTCGGCTCACTGCAAGCTCTGCCTGCTGGGTTCATGCCATTCTTCTGCCTCGGCCTCCTGAGTAGCTGGGACTACAGGTGCCAGCCACCACGCCCGGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTAGCCAGGATGGTATCGATCTGACCTTGTGATCTGCCCACTTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCGCCCTGCCGCCAGTGCTGAGTTTTATCATCAGAGAGAGAAACCCAACCGCGGCAGGCAAAGGGTGTCCCTTTATTGTTTTCATAATAGTCTCGTTTTTATTTTATGTATTATATTTATTTTTTTGAGATGGAGTCTCACTCTGTCACCCAGGCTGGAGTACAGTGGTGCGATCTCAGCTCACTGCAACCTCTGTCTCCTGGATTCAAGCGATTCCCCTGCTTTGGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACACCTGGCTAATATTTTTTGTATTTGTAGTAGAGATGGGGTTTCACTATGTTGGCTGGGCTGGTCTCGAACTCCTGACCTCAGGCATTTTGTCCTCCTCAGCCTCCCAAAGCGATATTCTAGGTTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCNN | pathogenic | 296,675 |
Mutation at chromosome 19, position 10996367, within SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | TTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCCCACCACACCCAGCTAAGTTGTTTTTTTTTTTGAGATGGAGTTTTGCTCTTTTGCCCAGGCTAGAGTAAAGTGGTGCAATCTTGGCTCATTGCAGCCTCCGCCCCGCGAGTTCAATCAATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACCACCACGCCCATTTAATTTTATTTTTATTTATTTATTTATTTATTTTAGACGGAGTCTCGTTCTGTCACACAGGCTGGAGTGCAATGGCACAATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGAACATCGGCCTCCCAAAATGCTGGGATTACAGGCTTGATCCACCATGGCCAGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTACAGGCATAAGCCACCACGCCTGGCCTAATTTTTTAAAATTTATTTTCTATAGAGACGGGGGTTCCATATGTTTTTCAGGCTAGTCTCCAATTCCTGGGCTCAGGCATCCTCCTGCCTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCCCCGCACCTGGCCTTCACCTGTGTTTTTTCCTAAACTCTTTGAGAGTCAAATGCAGACGTGACAGCGCCTTACCTCCATGTAATTCATTATCTACTTCATAAAGACAAGGTTGTTTCTGCACACTGTACCGAGGTGACGGACACAGGAGGTGAACATTGGTACAGCACTGTTATCCAATCTATAGGCCTTCGTATGAGGTTTGGCCAGTTTTTCCAGTTATCTTCACAGCAGCAGAGAATCCTGGGTCACATTTAGTGGAGGTCCCTTTAGTCAGCTTTAGTCTTAAAGAGCTCCTTGTGTGTGTGTTTGTTTTTTTGCAGAGATGGGGTCTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTTCCAAAGGCTGTGATTATAGGCGTGAGCCACCACGCTTGGCTTCAGGCCAGCTATGTCATCCAGTGGCCCCGGACTTTGGTTTGTCTGATGTTCCTTGTGGTTGGAGTTGGGTTATGTGTCTCTGGCAGGCAGACCCAACATGGCCCTGAGTCCCTCTCAGGGTGTCATATCGAGAGTGCATGGCGGAGGTTAGCAAATAAGGTCACTGGTGATGCTGACTTTGAACCCCTGCCAAGGGATCTCCACTGTCCAGTTACTGTTTTTTTCTTT | TTTTTTTTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCCCACCACACCCAGCTAAGTTGTTTTTTTTTTTGAGATGGAGTTTTGCTCTTTTGCCCAGGCTAGAGTAAAGTGGTGCAATCTTGGCTCATTGCAGCCTCCGCCCCGCGAGTTCAATCAATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACCACCACGCCCATTTAATTTTATTTTTATTTATTTATTTATTTATTTTAGACGGAGTCTCGTTCTGTCACACAGGCTGGAGTGCAATGGCACAATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGAACATCGGCCTCCCAAAATGCTGGGATTACAGGCTTGATCCACCATGGCCAGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTACAGGCATAAGCCACCACGCCTGGCCTAATTTTTTAAAATTTATTTTCTATAGAGACGGGGGTTCCATATGTTTTTCAGGCTAGTCTCCAATTCCTGGGCTCAGGCATCCTCCTGCCTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCCCCGCACCTGGCCTTCACCTGTGTTTTTTCCTAAACTCTTTGAGAGTCAAATGCAGACGTGACAGCGCCTTACCTCCATGTAATTCATTATCTACTTCATAAAGACAAGGTTGTTTCTGCACACTGTACCGAGGTGACGGACACAGGAGGTGAACATTGGTACAGCACTGTTATCCAATCTATAGGCCTTCGTATGAGGTTTGGCCAGTTTTTCCAGTTATCTTCACAGCAGCAGAGAATCCTGGGTCACATTTAGTGGAGGTCCCTTTAGTCAGCTTTAGTCTTAAAGAGCTCCTTGTGTGTGTGTTTGTTTTTTTGCAGAGATGGGGTCTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTTCCAAAGGCTGTGATTATAGGCGTGAGCCACCACGCTTGGCTTCAGGCCAGCTATGTCATCCAGTGGCCCCGGACTTTGGTTTGTCTGATGTTCCTTGTGGTTGGAGTTGGGTTATGTGTCTCTGGCAGGCAGACCCAACATGGCCCTGAGTCCCTCTCAGGGTGTCATATCGAGAGTGCATGGCGGAGGTTAGCAAATAAGGTCACTGGTGATGCTGACTTTGAACCCCTGCCAAGGGATCTCCACTGTCCAGTTACTGTTTTTTTCTTTNNNN | pathogenic | 296,713 |
Evaluate if the mutation on chromosome 19 at position 10996373 in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | TTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAAGAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCCCACCACACCCAGCTAAGTTGTTTTTTTTTTTGAGATGGAGTTTTGCTCTTTTGCCCAGGCTAGAGTAAAGTGGTGCAATCTTGGCTCATTGCAGCCTCCGCCCCGCGAGTTCAATCAATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACCACCACGCCCATTTAATTTTATTTTTATTTATTTATTTATTTATTTTAGACGGAGTCTCGTTCTGTCACACAGGCTGGAGTGCAATGGCACAATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGAACATCGGCCTCCCAAAATGCTGGGATTACAGGCTTGATCCACCATGGCCAGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTACAGGCATAAGCCACCACGCCTGGCCTAATTTTTTAAAATTTATTTTCTATAGAGACGGGGGTTCCATATGTTTTTCAGGCTAGTCTCCAATTCCTGGGCTCAGGCATCCTCCTGCCTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCCCCGCACCTGGCCTTCACCTGTGTTTTTTCCTAAACTCTTTGAGAGTCAAATGCAGACGTGACAGCGCCTTACCTCCATGTAATTCATTATCTACTTCATAAAGACAAGGTTGTTTCTGCACACTGTACCGAGGTGACGGACACAGGAGGTGAACATTGGTACAGCACTGTTATCCAATCTATAGGCCTTCGTATGAGGTTTGGCCAGTTTTTCCAGTTATCTTCACAGCAGCAGAGAATCCTGGGTCACATTTAGTGGAGGTCCCTTTAGTCAGCTTTAGTCTTAAAGAGCTCCTTGTGTGTGTGTTTGTTTTTTTGCAGAGATGGGGTCTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTTCCAAAGGCTGTGATTATAGGCGTGAGCCACCACGCTTGGCTTCAGGCCAGCTATGTCATCCAGTGGCCCCGGACTTTGGTTTGTCTGATGTTCCTTGTGGTTGGAGTTGGGTTATGTGTCTCTGGCAGGCAGACCCAACATGGCCCTGAGTCCCTCTCAGGGTGTCATATCGAGAGTGCATGGCGGAGGTTAGCAAATAAGGTCACTGGTGATGCTGACTTTGAACCCCTGCCAAGGGATCTCCACTGTCCAGTTACTGTTTTTTTCTTTTGTAAT | TTTTTTTTTTTTTTTTTGAGACAGCGTCTCACTCTGTTGCCCAGGCTGGAGCACAGTGGCACGATCTCGGCTCACTGCAAGCTCCGCCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGGCCCCTCACCACGCCCGGCTGATTTTTTGAATTTTTTTTGTTAGTAGAGATGGGGTTTTACCATGGTCTCGATCTCCTGACCTCATGATCCGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACTGTGCCCAGCCCTAATTTTTTTATTTTTATTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGATCTCGATCTCCTGACCTCGTGATCTGCCCTCCTCTGCCTCCCAAAGCGCTGGGATTACAGGCCAATATTCTAGGTTTTAAACAAGCCTTGCGGGGAGATGTGTCCACCATGCTGCTGAAGGGTCAGCCTTCTCTTTTGTGCTTTCCTGCAGGAATACCTCAATAGCATTCTCCAGCATGCCAAGGATTTCAAGGAATATCACAGATCCGTCACAGGCAAAATCCAGAAGCTGACCAAGGCAGTGGCCACGTACCATGCCAACACGGAGCGGGAGCAGAAGAAAGAGAACGAGCGGATCGAGAAGGAGCGCATGCGGAGGCTCATGGTATGGTCCTGCCTTCTTGACGTGCGCTCTTCTACATGTGTAGCTGGTACTGCGGGCTCCAGGGGTCACTCCCCAGGGTTACGCCAAGGCATTTCACAGCTCGGAGTTAGAGGTGGGACAGAGGGAAAAGAGCAGGCGCGGGCTTGGGAGTCAGTCCTGGGCTCGGATATTTGCTGATCTCTCTGATCATCAGAATGACTGTGTGACCTCAGGCCACTTAGCCGGCTCCTCTGCCTTCTCTGGAAAATGGAGGTGGTGCCCCCTTCCCTCGTTCTGTGAGAGCCAGGTGGTGTGATCCAGACCCCCGACCCCTAGCATAAACATCTCTGACCATTTATTTGTGACTGAGTCGCTGGTTGGGCAGATATTGGCAGCGTGTTCTGGGCCAGGTGCTGCTCTGTGTACGGGGACATGGCCCCTGCCTTTGTGGGGGCTCCTGGTTGTGCTTGAGGGGCAGATACGCGAATGAAGCAAACAGAGTAGTGGATGGTGACCGCTACAGTGAGGAGGGGGAAGTGGAGTGGAAGGGGAGGGACAGGGTAGTAAGTAAAAGCCTTGAAACAGAGGCCCAAAGGGTGGCCCTGATGCACAAACGCAGAGACCCAGGGAAGGAGCCCCAGGCAGTGCGGACAAAGGTTGAGGTGGCAGGCAGCCATGTGCCAGGGCAGCCGGTAGCCCTGGGCTCCCAGAACAGCGTTGTGTGGGGCAGGAGGTGAGGTCAGAGCTTACAGGGGCAGGTGGGAGGTGGGACCTTTCAGACCATTGGGAGGACTCTGGGTTGAGTTCTGATCATGAAGGGGAGCCTCACCCGGGAGGGTTTTGGCTGTGGGGTGATGTGATCTGATGTATTCTTAGAAAGGTGGGGGGCTGCTGTAGGAGGTGGTGGGAGGGATGCACCTTGGACTTGGTGGAGAGAAGGCTTCGGGTTTGGGGTGTATTTCGTGGACAGAGTGGGTAGGACTGGCTCATGGCCTCTGTAAATGGCTGCTGGCGGGACTGTCTGCCTAGCGGGTGCCCTTGGAACCTAGCCCTTGGTGGGTTTTGAGGAAATGATTCCTGAATGAGGAGTCGATTGCCGTGTGAAGGGCTGGTGGCACGGCACCCGCGTGAGCTACGCGTGCCCTCAGTGCGCTTCTGGATTGACTGGCCATGGGTGCTCACAGACATGCACATTGTGCCACCACATTGCAGTAACCCCCATGCTTTTGTAGGCTGAAGATGAGGAGGGGTACCGCAAGCTCATCGACCAGAAGAAGGACAAGCGCCTGGCCTACCTCTTGCAGCAGACAGACGAGTACGTGGCTAACCTCACGGAGCTGGTGCGGCAGCACAAGGCTGCCCAGGTCGCCAAGGAGAAAAAGAAGAAAAAGAAAAGGTGTGCTGGGCCTGGCATGGTGCCCGCCGCGGGTGGGATGGGAGCAGCCGTCTTCACGTGTGTGGCCTCAGCCTTGTGGGTCAGGGCCTGACCGTGTCTCTCTCTATTTCCAGAAGGCAGAAAATGCAGAAGGACAGACGCCTGCCATTGGGCCGGATGGCGAGGTGAGGAAGCAGGGTTTCTTGTGGAAGTATCAAGCTAGCCCTAAGGCGTTGGTCTGTTTCAGACTTTAAAACCTGTGTTCTTTTAAAATTACGAACAATGATATGTGATGATGGTGAGAATCCCAGGGTGTCCTCTGACGCCCATCCCACCCGACCCCACATCCCACATGTTGTGTTTTCTTCCAGACCTTTTTCTATGCATGTGCCACAGGATTCATCTTTCAGGTTTTACTTTGTTGTAACGTCCGACTTACAGGAGAGGTGCAAGAACCGTCCAGAGATGTCCTGTGTGTTCTTCACCCAGAGTCTCCATTTTCACGTTTTGTGTTTTGTTTTGTTTCTTTGAGACAGGGTCTCTCTGTCACCCAGGCTGGATTGCAGTGGCGGATGGCTCACTGCAGCCTTGACCTCCTGGGCTCAAGTGATCCTACCCTTCGAGTAGCTGGGATTACGGTTATGCCCCACCACACCCAGCTAAGTTGTTTTTTTTTTTGAGATGGAGTTTTGCTCTTTTGCCCAGGCTAGAGTAAAGTGGTGCAATCTTGGCTCATTGCAGCCTCCGCCCCGCGAGTTCAATCAATTGTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTATAGGCATCCACCACCACGCCCATTTAATTTTATTTTTATTTATTTATTTATTTATTTTAGACGGAGTCTCGTTCTGTCACACAGGCTGGAGTGCAATGGCACAATCTCTGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCTGCTACCACGCCCGGCTAATTTTTTGTGTTTTTAGTAGAGATGGGATTTCACCGTGTTAGCCAGGATGGTTTCAATCTCCTGACCTCGTGAACATCGGCCTCCCAAAATGCTGGGATTACAGGCTTGATCCACCATGGCCAGCCAGTTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGAACTCCTGATCTCAAGTGATCCACCCGCCTTGGCCTCCCAAAGTGCCAGGATTACAGGCATAAGCCACCACGCCTGGCCTAATTTTTTAAAATTTATTTTCTATAGAGACGGGGGTTCCATATGTTTTTCAGGCTAGTCTCCAATTCCTGGGCTCAGGCATCCTCCTGCCTCAGCCTCCCAAAGTGTTAGGATTATAGGCATGAGCCCCCGCACCTGGCCTTCACCTGTGTTTTTTCCTAAACTCTTTGAGAGTCAAATGCAGACGTGACAGCGCCTTACCTCCATGTAATTCATTATCTACTTCATAAAGACAAGGTTGTTTCTGCACACTGTACCGAGGTGACGGACACAGGAGGTGAACATTGGTACAGCACTGTTATCCAATCTATAGGCCTTCGTATGAGGTTTGGCCAGTTTTTCCAGTTATCTTCACAGCAGCAGAGAATCCTGGGTCACATTTAGTGGAGGTCCCTTTAGTCAGCTTTAGTCTTAAAGAGCTCCTTGTGTGTGTGTTTGTTTTTTTGCAGAGATGGGGTCTCATGTTGCCCAGGCTGGTCTTGAACTCCTGGGCTCAAGTGATCCTCCCACCTCGGCCTTCCAAAGGCTGTGATTATAGGCGTGAGCCACCACGCTTGGCTTCAGGCCAGCTATGTCATCCAGTGGCCCCGGACTTTGGTTTGTCTGATGTTCCTTGTGGTTGGAGTTGGGTTATGTGTCTCTGGCAGGCAGACCCAACATGGCCCTGAGTCCCTCTCAGGGTGTCATATCGAGAGTGCATGGCGGAGGTTAGCAAATAAGGTCACTGGTGATGCTGACTTTGAACCCCTGCCAAGGGATCTCCACTGTCCAGTTACTGTTTTTTTCTTTTGTAATNNNN | pathogenic | 296,714 |
Benign or pathogenic: chromosome 19, position 11003329, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant? Disease(s) if pathogenic? | benign | CAACATAGGGAGACTCTGTCTCTCCAAAAAATAAAATAATTACCTGGGCATGGTGGTGTGCACTTGCGGTCCCAGCTGATTGGGAGCCAGAGGTAGGCGGATCACTTGAGCCCAGGGCTTTGAGGCTGTGATCACACCTGTGAATAACCATGGTACTGAGCCCGTCTCCAAAAAATAAAAAGTAAATTAAAAATCTTAAAAAGCGAGGATGCCCAAGCCTCACTCCAGAGGAGTTCAATCAGAATTTTGGGTGTAGGGGAGGCATGCAGCAATCGGCATCTTTGACTGCTCCTCCCAGTGATCCCAGAGAGGATGTGGAGTTGAAAGTCCCTGACTGAGGCAGCCTGCAGAGCCCATTGTTGGGGTAAGAGGTTGCTCTTATGGTGGCCGCTCTGTGGGTGAGCTTTTAGCGCGTAGAGACTGATATCCCTCCGCTGTGTGGACGGTATTGACACTGTGAGCGCAGCAGTTTTGCAGGTAGTTATAAATTCCTGGAAGATGAAAACCAAAATTTAAACCAATAACTTTTTCTCCATCCTGGAAGTTTTTTCTAGGAAATATACAAGAATTGATGAGGGAGAAAATGTTTATCCATTGAATCTCAACAGGAGGAGTTTCATATTTGTTGCTAAGAGGAATTATTTTTGAAATATTTCAATTAGCTTTTTAACAAAAAAGAATGAGGACCCTTGATGAGATCTACAAATAGAGTATAAGTGGGGGAAAAAATCAAGGTCCAAAGAATGTAAATTATATAACCGTTAGTGTAAAAAAGAGGGAGAAAGTGGAAACGTCTAAGTCCTTGTTTCTTATCCATGGAATTGATCTGGAAGGATGGACAGGAAACTGATACCAGTGGAAAACTGTGAAGAGAAAAACTTAGGCTGGAGCACAGAAGAATGGGGAGAGCCCACATGATGCTCTTCAGTTTTCGTTAAAAAAATAAAAATGGGCCTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACTGTCTTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAATACTAAAAATTAGCTGGGCATGGTGATGGGCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGATACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAAATAAAAAATAAAAATGGGCCGAGCATAGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACATGAGGCCAGAAGTTTGAGACCAGCCCGGCCTGAATTTTCAGCTATGAGTGTCTGGACTATTTGAAAATTACAATGTATATGCCAGTTACCTTAAAGAAACAGGTGTTGGGAGACTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCGAGAGCCGAGATCACGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAGAAACAAGTGTCAGCCAAGGTTGATGGGTTATATATTTTTACTGGATTACTGAGTATACAGTTTACGCATTTTCCCACCACTGGCCATGTTTGCCTGCCATTTTCTGTGCAAACAGTTGAGTGGGTGCTTCCCACCTTGGCCTCTGTAAGTGTTTGGTCTGGAGGCCCTGCAACCTCAGTGTCACACGAATGACTCTTTTTCAGCCTCTGGACGAGACCAGCCAGATGAGCGACCTCCCGGTGAAGGTGATCCACGTGGAGAGTGGGAAGATCCTCACAGGCACAGATGCCCCCAAAGCCGGGCAGCTGGAGGCCTGGCTCGAGATGAACCCGGGGTGAGTTGGGCCTTGCATTCCAGATGCAGTGGGGATCCAAGTCCTCGGTGGGCCTTGTTCCAGGGAGGTGGCAGCCAGGAGCAATTTTACTTCTGTTTGAATTCCCGGCAGGTTTGGTAGGGAAAGTGAATTCTGCTGGCTCTGAGCAGATTTGTATGAAAGCCCTTACATTTTTTCTAGGTATGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTAAGAGTGCATTTCCTGGCTTTCAAGGCTCTCAGTGCCCACTGGCAGTGACTTCCACCCTGTGTGTTGTGACCGTCTCCTGCCCTGGCTGGGCATCTTGTGGGGCAGGGAACAGCAGGGCCCAGGCCTGCCCGAAGTCGGTGCTTTAGAGCTGTCCTATCCAATAGGGCAGCTTCTGGCGACATGTGACCATTTCCATTTTAAATTAAATCAGTCACATTACATAAAATTTAAGACTCATTTTCTCTTTCACACTGGCTGCATTTCAGGTGCTTGGCATCCCTTATCTGGGAATGGTCTGCCTCATTTGCCCATTTTTTTTTTTTTTTTTTGAAACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGTGCAATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGTCCAGCTAGTTTTTTTATGTTTAGTAGAGATGGAGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTGAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAACCTCCACGTCCGACTTATGATTTTTTTGTTGTTGTTTTGAAATGGAGACTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATGTTGGCTCACTGCAGCCTCCACCTCCCGTGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTTCAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTACACCATGTTGGCCAGTCTGGTCTTGAACTCTTGACTGGTGATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTATAGCCCAGGATGGAGTGCAGTGGCGCGATCTCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGCTAATTTTTAAAATATTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTTAAGCGATCCACCCACCTGGGCCTCCCAAAGTATTGGGATTACAGGCACGAACCAGTGCGTCAAAGTCTGTTCTGTGTTAGTCACTCTAACCCTCTTATGATTATTGTTCACATGGTACATCTTTTTCCCTTCTTTTACTTTCAACCTGAATCTACAACAGCATATGGGTTTTGCATTTTCAGCTAGTATGACAGTGACTGCTTTTTGACTGAGTTTTTAAGACCATTTATATTTACTGTAATTTCTGATATGATTGGGCTTACATTTGCTATTTCTTTTCTATGCCTCCTGTTTTTGTTCCTCCTTTACTGCCTTTTGTGTTCAATGTTTTTTTTCCCTAGATTTTTATTTTTATAGTGCCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGAGCAATCTCGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGGGACTACAGGTGCATGCCACCAAACCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTCCTATTTTTTTGCTTACCTCTTCATGTTTAGTTGAAGCGTACTTTAGCTACCCTGGAGTCTGACTTTTAAAACTCTGGGAGGTTGTGGTGGCGTCTAGTCTGTTTAGTAATTTCCTGGGGCTCAGTCTGTGAAATCTGGTTCCTGCATAGTGTGTATAGCCTCTGCTGTATTTCCTCAATTCTTTTAAACATTTTTTGGTTTTATCTTATTCGTGATTTTTTTCCTGGTTCATTAGGG | CAACATAGGGAGACTCTGTCTCTCCAAAAAATAAAATAATTACCTGGGCATGGTGGTGTGCACTTGCGGTCCCAGCTGATTGGGAGCCAGAGGTAGGCGGATCACTTGAGCCCAGGGCTTTGAGGCTGTGATCACACCTGTGAATAACCATGGTACTGAGCCCGTCTCCAAAAAATAAAAAGTAAATTAAAAATCTTAAAAAGCGAGGATGCCCAAGCCTCACTCCAGAGGAGTTCAATCAGAATTTTGGGTGTAGGGGAGGCATGCAGCAATCGGCATCTTTGACTGCTCCTCCCAGTGATCCCAGAGAGGATGTGGAGTTGAAAGTCCCTGACTGAGGCAGCCTGCAGAGCCCATTGTTGGGGTAAGAGGTTGCTCTTATGGTGGCCGCTCTGTGGGTGAGCTTTTAGCGCGTAGAGACTGATATCCCTCCGCTGTGTGGACGGTATTGACACTGTGAGCGCAGCAGTTTTGCAGGTAGTTATAAATTCCTGGAAGATGAAAACCAAAATTTAAACCAATAACTTTTTCTCCATCCTGGAAGTTTTTTCTAGGAAATATACAAGAATTGATGAGGGAGAAAATGTTTATCCATTGAATCTCAACAGGAGGAGTTTCATATTTGTTGCTAAGAGGAATTATTTTTGAAATATTTCAATTAGCTTTTTAACAAAAAAGAATGAGGACCCTTGATGAGATCTACAAATAGAGTATAAGTGGGGGAAAAAATCAAGGTCCAAAGAATGTAAATTATATAACCGTTAGTGTAAAAAAGAGGGAGAAAGTGGAAACGTCTAAGTCCTTGTTTCTTATCCATGGAATTGATCTGGAAGGATGGACAGGAAACTGATACCAGTGGAAAACTGTGAAGAGAAAAACTTAGGCTGGAGCACAGAAGAATGGGGAGAGCCCACATGATGCTCTTCAGTTTTCGTTAAAAAAATAAAAATGGGCCTTGGGAGGCCGAGGCGGGCAGATCACGAGGTCAGGAGATCGAGACTGTCTTGGCTAACACAGTGAAACCCCGTCTCCACTAAAAATACTAAAAATTAGCTGGGCATGGTGATGGGCACCTGTAGTCCCAGCTACTCTGGAGGCTGAGGCAGGAGAATGGCATGAACCTGGGAGGTGGAGCTTGCAGTGAGCCGATACCGCACCACTGCACTCCAGCCTGGGCAACAGAGTGAGACTCCATCTCAAAAAAATAAATAAATAAAAATAAAAAATAAAAATGGGCCGAGCATAGTGGCTCACGCCTGGAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACATGAGGCCAGAAGTTTGAGACCAGCCCGGCCTGAATTTTCAGCTATGAGTGTCTGGACTATTTGAAAATTACAATGTATATGCCAGTTACCTTAAAGAAACAGGTGTTGGGAGACTGAGGCAGAGAATTGCTTGAACCCAGGAGGCAGAGGTTGTAGTGAGCCGAGAGCCGAGATCACGCCACTGCACTCTAGCCTGGGTGACAGAGCGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAGAAGAAACAAGTGTCAGCCAAGGTTGATGGGTTATATATTTTTACTGGATTACTGAGTATACAGTTTACGCATTTTCCCACCACTGGCCATGTTTGCCTGCCATTTTCTGTGCAAACAGTTGAGTGGGTGCTTCCCACCTTGGCCTCTGTAAGTGTTTGGTCTGGAGGCCCTGCAACCTCAGTGTCACACGAATGACTCTTTTTCAGCCTCTGGACGAGACCAGCCAGATGAGCGACCTCCCGGTGAAGGTGATCCACGTGGAGAGTGGGAAGATCCTCACAGGCACAGATGCCCCCAAAGCCGGGCAGCTGGAGGCCTGGCTCGAGATGAACCCGGGGTGAGTTGGGCCTTGCATTCCAGATGCAGTGGGGATCCAAGTCCTCGGTGGGCCTTGTTCCAGGGAGGTGGCAGCCAGGAGCAATTTTACTTCTGTTTGAATTCCCGGCAGGTTTGGTAGGGAAAGTGAATTCTGCTGGCTCTGAGCAGATTTGTATGAAAGCCCTTACATTTTTTTCTAGGTATGAAGTAGCTCCGAGGTCTGATAGTGAAGAAAGTGGCTCAGAAGAAGAGGAAGAGGTAAGAGTGCATTTCCTGGCTTTCAAGGCTCTCAGTGCCCACTGGCAGTGACTTCCACCCTGTGTGTTGTGACCGTCTCCTGCCCTGGCTGGGCATCTTGTGGGGCAGGGAACAGCAGGGCCCAGGCCTGCCCGAAGTCGGTGCTTTAGAGCTGTCCTATCCAATAGGGCAGCTTCTGGCGACATGTGACCATTTCCATTTTAAATTAAATCAGTCACATTACATAAAATTTAAGACTCATTTTCTCTTTCACACTGGCTGCATTTCAGGTGCTTGGCATCCCTTATCTGGGAATGGTCTGCCTCATTTGCCCATTTTTTTTTTTTTTTTTTGAAACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCACTGGTGCAATCTCAGCTCATTGCAACCTCCACCTCCCGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGTCCAGCTAGTTTTTTTATGTTTAGTAGAGATGGAGTTTCATCATATTGGCCAGGCTGGTCTCAAACTCCCGACCTGAAGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGACATGAACCTCCACGTCCGACTTATGATTTTTTTGTTGTTGTTTTGAAATGGAGACTTGCTGTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATGTTGGCTCACTGCAGCCTCCACCTCCCGTGTTCAAGCGATTCTCCTGCCTCAGCCTCCCTAGTAGCTGGGACTTCAGGCACCTGCCACCATGCCTGGCTAATTTTTGTATTTTTAGTAGAGACAGGGTTACACCATGTTGGCCAGTCTGGTCTTGAACTCTTGACTGGTGATTTTTTTTTTTTTTGAGACAGAGTCTCACTCTATAGCCCAGGATGGAGTGCAGTGGCGCGATCTCGCTCACTGCAACCTCCGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGTCTCCTGAGTAGCTGGGATTACAGGCGCCCGCCACCATGCCAGCTAATTTTTAAAATATTTTTAGTAGAGATGGGGTTCCACCATGTTGGCCAGGCTGGTCTCGAACTGCTGACCTTAAGCGATCCACCCACCTGGGCCTCCCAAAGTATTGGGATTACAGGCACGAACCAGTGCGTCAAAGTCTGTTCTGTGTTAGTCACTCTAACCCTCTTATGATTATTGTTCACATGGTACATCTTTTTCCCTTCTTTTACTTTCAACCTGAATCTACAACAGCATATGGGTTTTGCATTTTCAGCTAGTATGACAGTGACTGCTTTTTGACTGAGTTTTTAAGACCATTTATATTTACTGTAATTTCTGATATGATTGGGCTTACATTTGCTATTTCTTTTCTATGCCTCCTGTTTTTGTTCCTCCTTTACTGCCTTTTGTGTTCAATGTTTTTTTTCCCTAGATTTTTATTTTTATAGTGCCTTTTTTTTTTTTGAGACGGAGTCTCGCTCTGTCACCCAGGCTGGAGTGCAGTGGAGCAATCTCGGCTCACTGCAATCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGCCTCCCGGGACTACAGGTGCATGCCACCAAACCCGGCTAATTTTTTTTTGTATTTTTAGTAGAGACAGGGTTTCACCATGTTGGTCAGGCTGGTCTCGAACTCCTGACCTCAGGTGATCTGCCTGCCTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACCACGCCTGGCCTCTCCTATTTTTTTGCTTACCTCTTCATGTTTAGTTGAAGCGTACTTTAGCTACCCTGGAGTCTGACTTTTAAAACTCTGGGAGGTTGTGGTGGCGTCTAGTCTGTTTAGTAATTTCCTGGGGCTCAGTCTGTGAAATCTGGTTCCTGCATAGTGTGTATAGCCTCTGCTGTATTTCCTCAATTCTTTTAAACATTTTTTGGTTTTATCTTATTCGTGATTTTTTTCCTGGTTCATTAGG | benign | 296,761 |
Is the chromosome 19, position 11010538 variant in SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | benign | GCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGCAAGTGAGGGCTGGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCGCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGTGCACCTGGAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAAATGGGGAGGAGGAGGCTGCAGTGAGCTGAGATAGCGCCACTGCACTCTAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATGTAGGTGGATAAAAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTTCACCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCTTGCCTCGGCCTCCTGAGTAGCTGGCACAACAGGCGCGGGCCACCACGTCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTACCCACTTTGAGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGAGTTACTTTTTAAAAGAAAAACATTCAGATTAGATTACAAATTGCCTAAGTTTTAACAGCTCTGGTTTTGTATGAACCTGTTCAGTCTGTGTTTCTTTTCACCTTTAGGCTCATGAATTGTTCTTAGAAAGGGTGGGTTCTATGATGATCAGCATCTGGCTAGGTGCAGAGTGTCTTTCTGTGCTGTGGCAAGTGACAGCATTCTATTTGTTGTTTTGAGACAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCTTGACTCACTGCAGCCTCTGCCTCCGGGCTTAAGTGTTTCTTTTACCTCAGCCTCCTGAGTAGCTGGGGTTACAGGCATGCACCACCACGCCCGGCTAACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCTCTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAATTCCTGACCTCAGGTGATCCACATGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCCAGCCTAATTTTTGTTTTTTGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGGCCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGTTGAAATTACAGGCGTGAGCCACCACGCCCATCAGAGTGACAGAATTCTTGTACTGTGGTGGTGCAATCAGGACCCAGAGCTCCCAGGAGTCCAGTCTGGACCCCTCAGGCTTAGTGCGGGCTGCCCTGCCTGGCCTCACACTGTCCGGCTGCACCTCTATGTGTCTTACAGTGCTGGCCACAGGTCATTCAGCAGAAAGGGCCACTCCGCAGAGCTTGTGTCAGGAGCCAGCACATTGTCACAGATAGGAATGTGTGTCCTTACCCGGCACCTCCATCTCACTCCCAGGAATGCCAAGCAAGATGTCGATGATGAATATGGCGTGTCCCAGGCCCTTGCACGTGGCCTGCAGTCCTACTATGCCGTGGCCCATGCTGTCACTGAGAGAGTGGACAAGCAGTCAGCGCTTATGGTCAATGGTGTCCTCAAACAGTACCAGGTGAGGTAGGGGGTGGGGAGGCCACCGCCACGTAGCTGCCTCGGTGCAGGTGTTCCCAGGTGGTGCGGGCTTCAGACCTCAGGCAGACCTGAGTTCACCTTTTGCTCTTTGTGGGCAATGCACTCTTCCCCTCTGAGCCTCGGTTTCCCCATGTGTAAAGCAGAGATGTGGTCTGGTAGGTTAGCTGCCAGGAGGACGTGCAACAGCAGAAAGTCAGTGTCTACTGGGTGCCCGATGTGCCAGGCAGAGTGGGAGCGATTTGCACTCCAGTGGCCTCACAGAGGAGACGGGGCCACCTGAGGAGCAGAGAGGTGCAGCACCTCCTCAGCATCGCACCGTGTGTAGGACTGAACCAGGGCCGGAGCTCAGATCTGGGCATCTGCATGCTCAGGACAGGTTACCTGAGCTCTGTGTGGTGTGAAACGGCGAGCGTCAGGAGCTTAGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCTGAGTAGCTGGGACTACAAGTGCGTGCCATCACGCCCGGCTAGTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTCGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCAGTGCACCCAGCCCCAACTTTCTTTAAGACAACTCTTAAACCTTTTGTGCTAGTATCAACATTCAAAGCTGCACATGCACCTATAGTCCCAGCTACTTAAGAGGCTGAGATGGGAGGATCGCATGAGCCCAGGAGTTGAAAGTGGGCCTGGGCAACATAGTGAGACACTGCCTCTACAAAAATATTTTAAAAATTAGCTGGGGGTGGTAGCACACATCTGTAGTCCCAGATAGTTGGGCGGCTTAGGTGGGAGGAGAGCCCGAGCCCAGGACTTCTGAGCTGTAGCGCCCTATGTCGATCAGGTGTCTGTACTAAGTTCAGCATGAATATGATGACCTTCCAGGAGTGGGGCACCACCAGGTGGCCTAAGGAGGAGCGAATCTGCCCAGGTCAGAAATGGAGCAGGTCAAAACTGATGTGCTGATCCGTAGTGAGATAGTCCCTGTGAAGAGCCACTGCACTCCAGCCTGGGTGGCATAGCGAGACCCCATCTCTATAAAACAATAATGAAACAAAGGCAAAGCTCATGGTTAGTGGAATTTTCCAAGAGTCCCATGCAATTAAAATAATTAGAACTTGGCTAGGCGCAGTGGCTCATGGCTGTGATGCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGATGAGACCCTGTCTCTACCGAAAATACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCTTGGGTGAGAGTGAGACTCGGTCTCAAAAAAAAAAAAATGAATTAGAACTTGGCCAGAACTTACTTCCTCAATCCATTACGAACATTTCCAAATTTTCCTTCATAACGTTATCTTCAGTTTGCAAATAGTCTTCTGTTTAAGGCCTGTATTTCAGAAAGCTCCCAGGCTTTGGAAATCCCTCTCTTAATCTTGAAATGATGTTCAGGCAGTGAATTCCTCACGAAGTCGCCCTGAAGCCCTCT | GCAGAGTGCTTCCAGTCTGGTCCTCAGCGTGCAGTGTCATACTGCGTCACGTTATATTCTCATTTTCGTAGCCTGTCCTTTGGTGACAAGCGTTTAGGTTATATTTGTCATCTTTTGCTCCTGTAACACATCACAGTTAACACAGTAATCTCTTCATTGCTTATGGTAAGGAATTAATAGATCCTGTTAAAAAGCAAGTGAGGGCTGGGCGTGGTGGCTCAGGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCAGGTGGATCACTTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACTTGGTGAAACCGCATCTCTACTAAAAATACAAAAATTAGCTGGGCGTGGTGGCGTGCACCTGGAGTCCCAGCTACTTGGGAGGCTGAGACAGGAGAATCGCTTGAAATGGGGAGGAGGAGGCTGCAGTGAGCTGAGATAGCGCCACTGCACTCTAGCCTGGGCAACAGAGGGAGACTCCATCTCAAAAAAAAAAAAAATGTAGGTGGATAAAAGTCACTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGAGATAGAGTCTTGCTCTTCACCAGGCTGGAGTACAGTGGTGCGATCTTGGCTCACTGCAACCTCCACCTCCTGGGTTCGAGTGATTCTCTTGCCTCGGCCTCCTGAGTAGCTGGCACAACAGGCGCGGGCCACCACGTCCAGCTAATTTTTGTGTTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGATGGTCTTGATCTCTTGACCTCATGATCTACCCACTTTGAGCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCTGGCCAGAGTTACTTTTTAAAAGAAAAACATTCAGATTAGATTACAAATTGCCTAAGTTTTAACAGCTCTGGTTTTGTATGAACCTGTTCAGTCTGTGTTTCTTTTCACCTTTAGGCTCATGAATTGTTCTTAGAAAGGGTGGGTTCTATGATGATCAGCATCTGGCTAGGTGCAGAGTGTCTTTCTGTGCTGTGGCAAGTGACAGCATTCTATTTGTTGTTTTGAGACAGTCTTGCTCAGTCGCCCAGGCTGGAGTGCAGTGGCTCGATCTCTTGACTCACTGCAGCCTCTGCCTCCGGGCTTAAGTGTTTCTTTTACCTCAGCCTCCTGAGTAGCTGGGGTTACAGGCATGCACCACCACGCCCGGCTAACTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCGCCCAGGCTAGAGTGCAGTGGCACGATCTCGGCTCTCTGCAAGCTCCGCCTCCCAGGTTCATGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCTGCCACCACGCCCGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTAGAATTCCTGACCTCAGGTGATCCACATGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTAAGCCACTGTGCCCAGCCTAATTTTTGTTTTTTGTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTTGATCTCCTGGCCTCAAGTGATCCACCTGCTTCAGCCTCCCAAAGTGTTGAAATTACAGGCGTGAGCCACCACGCCCATCAGAGTGACAGAATTCTTGTACTGTGGTGGTGCAATCAGGACCCAGAGCTCCCAGGAGTCCAGTCTGGACCCCTCAGGCTTAGTGCGGGCTGCCCTGCCTGGCCTCACACTGTCCGGCTGCACCTCTATGTGTCTTACAGTGCTGGCCACAGGTCATTCAGCAGAAAGGGCCACTCCGCAGAGCTTGTGTCAGGAGCCAGCACATTGTCACAGATAGGAATGTGTGTCCTTACCCGGCACCTCCATCTCACTCCCAGGAATGCCAAGCAAGATGTCGATGATGAATATGGCGTGTCCCAGGCCCTTGCACGTGGCCTGCAGTCCTACTATGCCGTGGCCCATGCTGTCACTGAGAGAGTGGACAAGCAGTCAGCGCTTATGGTCAATGGTGTCCTCAAACAGTACCAGGTGAGGTGGGGGTGGGGAGGCCACCGCCACGTAGCTGCCTCGGTGCAGGTGTTCCCAGGTGGTGCGGGCTTCAGACCTCAGGCAGACCTGAGTTCACCTTTTGCTCTTTGTGGGCAATGCACTCTTCCCCTCTGAGCCTCGGTTTCCCCATGTGTAAAGCAGAGATGTGGTCTGGTAGGTTAGCTGCCAGGAGGACGTGCAACAGCAGAAAGTCAGTGTCTACTGGGTGCCCGATGTGCCAGGCAGAGTGGGAGCGATTTGCACTCCAGTGGCCTCACAGAGGAGACGGGGCCACCTGAGGAGCAGAGAGGTGCAGCACCTCCTCAGCATCGCACCGTGTGTAGGACTGAACCAGGGCCGGAGCTCAGATCTGGGCATCTGCATGCTCAGGACAGGTTACCTGAGCTCTGTGTGGTGTGAAACGGCGAGCGTCAGGAGCTTAGATCTAGGAGCCGGCAGCCCTGGACTCCGCTCTTTCTTCTGGGGATGAGGTAGCAGGTCCTGTGTGAGGGTGAAAAGTTGGTGGCTCTGAAGCTCTTCACCTGGGCCTGACTTGGGACAGTCACGAAACAGAGCTGCTCATGCTCTTAATGCGGCCTGCCATCCAGAGCTCATTACAAGGCCCCACAAGACAACCAGTACAACTCCAACCAAAGAACAGCTCTCTCTGGTTTTCAATTTGGTTGTTTCTTTTCTTTTCTTTTTTTTTTTTGAAACGGAGCCTCTCTGTTGCCCAGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCTGCCTCCCGGGTTCAAGTGATTCTCCTGCCTCAGACTCCTGAGTAGCTGGGACTACAAGTGCGTGCCATCACGCCCGGCTAGTTTTTGTATTTTTAGTAGAGACAGAGTTTCACCATGTCGGCCAAGCTGGTCTCAAACTCCTGACCTCAGGTGATCCGCCCACCTTGGCCTCCCAAAGTGCTGGGATTACAGATGTAAGCCAGTGCACCCAGCCCCAACTTTCTTTAAGACAACTCTTAAACCTTTTGTGCTAGTATCAACATTCAAAGCTGCACATGCACCTATAGTCCCAGCTACTTAAGAGGCTGAGATGGGAGGATCGCATGAGCCCAGGAGTTGAAAGTGGGCCTGGGCAACATAGTGAGACACTGCCTCTACAAAAATATTTTAAAAATTAGCTGGGGGTGGTAGCACACATCTGTAGTCCCAGATAGTTGGGCGGCTTAGGTGGGAGGAGAGCCCGAGCCCAGGACTTCTGAGCTGTAGCGCCCTATGTCGATCAGGTGTCTGTACTAAGTTCAGCATGAATATGATGACCTTCCAGGAGTGGGGCACCACCAGGTGGCCTAAGGAGGAGCGAATCTGCCCAGGTCAGAAATGGAGCAGGTCAAAACTGATGTGCTGATCCGTAGTGAGATAGTCCCTGTGAAGAGCCACTGCACTCCAGCCTGGGTGGCATAGCGAGACCCCATCTCTATAAAACAATAATGAAACAAAGGCAAAGCTCATGGTTAGTGGAATTTTCCAAGAGTCCCATGCAATTAAAATAATTAGAACTTGGCTAGGCGCAGTGGCTCATGGCTGTGATGCCAGCACTTTGGGAGACCAAGGCGGGTGGATCACCTGAGGTCAGGAGTTTGAGACCAGGCTGGCCAACATGATGAGACCCTGTCTCTACCGAAAATACAAAAAATTAGCTGGGCATGGTGGTGCATGCCTGTAATCCCAGCTACTTGGGAGGCTGAGGCAGAATTGCTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATCGGGCCACTGCACTCCAGCTTGGGTGAGAGTGAGACTCGGTCTCAAAAAAAAAAAAATGAATTAGAACTTGGCCAGAACTTACTTCCTCAATCCATTACGAACATTTCCAAATTTTCCTTCATAACGTTATCTTCAGTTTGCAAATAGTCTTCTGTTTAAGGCCTGTATTTCAGAAAGCTCCCAGGCTTTGGAAATCCCTCTCTTAATCTTGAAATGATGTTCAGGCAGTGAATTCCTCACGAAGTCGCCCTGAAGCCCTCTN | benign | 296,826 |
Considering the genetic mutation at chromosome 19, position 11021943, impacting SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | GCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCC | GCAGGCCCTGAGTCAGGCCCAGAAGCTGGGGCCATCTACACAGCATGCGCTCTGCCTCCTCTCGGGCCTTCTGCCCAGAGAGCCTCAGCACCAAGGCGTCTCCTGACCCGCCTACAGAGTCCCCATGGGGCCTTGGCCAGACCAGTCTTGTCCTCCTGTCTCATTGCCTTGGCCGTCCCTCCCTGGGGCCCTGGCTTCTCACCACAGGCCATGGGCTGAGATTCAGCATGTGGGGGAGAGCTCGAGGGCCAAATACCATGACTGCCTGCTGGCCTTGGGCAGCTGGTTCGGGCTGTTCTGTGAGGGTCCTACTGTCCTGGAAGCCTCTTCTGGGACGAAACTGTGAAGGGAGTCCCAGCGTGGCCATGACTGAGAATACGGCCCAGATAGAAAACAGACATAGCCCTCTGCCTCCAAAAACTCATGTTCCTCATTTGAGGAGGGGTAAAGATGTACCTGGTCTCACCCCTAAACATCCAGCTGAGTGAGTGTTGAACAGTAGAGAGTTTTTTGCGTTTTGGTTTTTTTTTTTTTGAGACCGAGTCTCGCTCTGTTGCCCATGCTGGAGTGCAGTGATGTGATCACAGCTCACTGCAGGCCTGACCTCCTGGCCTCAAGCGATCCTCCCACCTCACCCTCCTGAGTAGCTGGGACTACAGGTGTGCGCCACCACTCCCAGCTAACTTTTTTAAATTTATTTTTTATGGAGATGGGGTCTTGCTGTACTGCCCAGGCTGGTCTCAAACTCCTGGCCTCAAGGAATCCTCTCGCCTTGGCCTCACAAAGCACTGGGCAACTGTGTCTGGCCTAACAGTAGAGTTCTTGACCCAGGTATGGGGGGATGGAGGAGCTGTTTATGGGTGGCTCCGCCTCTCAGTGCATGGCTGGAGTGACAGTACTGGAATACTGGGGCTGTGAACTGGGTGTTTTCTTTTCTTTTTCTCTTCTTTTTTTTTTTTATTGAGACAGAGTCTCACAGCTGTCACCCAGGCTGGAGTGCAGTGGAGCGATCTCAGCTCACTGCAACAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCCTCAGCCTTCCGAGGACTGGGTGCTTTATCCCGGAGCCAACAAGGGAGGAAACTGAGGCCCAGGGAGCTGGGTATCCCACGTGCAGGCTCTTACCTCAGGTCCATGCTTCAGGTGCCTCCTTTGTGGCTCACCCCTGCTGACTCCTTACAAAGCCAGGCCGTTGGCAGGCACAGGAACCAGGCTCTGAAACCCCGTGCTCCCCTGCCAGTGGCTCAGTTGATGTAATCACCCTGCAGTGGGAGTGCTCTTTGAGTGCGGCCACTGCGCCCCCTCCCGACCCGCATGGCCCTGTATGTAGTGGCGCTGGCCCCTACCCCATGGGGCCCACATTCTGAACCACAGGCTGCTCATTAGAAATGTACCGTCACCAACCCAGTTCCCCTGAGACCCTCCACACCAGCAGGACAAGTCCCCCAGTCAGCAAGATGTGTCTTCTGCCAGAACGTGCTCGGCATTTTTCTGTGCTGTAGATTCATATGTGTGATTTTGCAGGGAAGCCAGATTGCTTTTTTGCAATTTGCATTGTTCACCTGCCAATAGTCATGGGGTCACGGGCCTGTCTCTGCCCAAGGCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCN | pathogenic | 296,965 |
Is the variant located on chromosome 19 at position 11023577, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Rhabdoid_tumor_predisposition_syndrome_2'] | GCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCTGGGCCCAGTTCCCACAGCAAGACCCATGGACTCGGGGTCCCCGGCTGCAGTTGTCCCTCTTGGCTCTTTGTTTCCTGGCTGGCTGTAGAGAGGCCCCCAGAAGATGGCTGGGGGGCCCTTTCTGGCCCAGTAACCCTCTGGTATCTCTGCCTGGTGCTTCCTCTCATTGCCCAGGTCTCCCCTCTTCTCCCCAGCTGTGAGGGTCTCCTCACCCACACCCCAGTGTGCTCTGGTCAGAGCTCATATGACAGGGCCGAGGGGGTCAGAGCTGGGTTCGGATGGGGGGAGTCAGGCCTCAAGCCACCTTGGGCCCTCGTGAGCATTATGTGTCCCCTGCAGGTGGAGTACGTCATCAAGTGCGACATGTCTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAGTCCCCCAACTGCATTCCCCACTGGGTGTCCAAGGCCGGCAGCGTGGCAGGCAGAGCAGAGCGTGCTCTGACCATCGGGTCATGATCTGGTCATGATCCCCAGGGCATCTGGCCAGCCCTGGTTATGATGGCTGGTGGCTTGTGTCAGGACACACTGACTCAGCTGCCAGTGGCTTCTCCTTTGCCTATGAAACACTGGCTCCTTCTGCAATTGGCAGCCTGGGCCCAGCACTAACCCCAGCAGGGTTAGAGTGTTCTAGAATGCCCCCCTTCTCTGTTATTAAGTGAAAGGAAGGGAGCGGGCTGTCTCCTGCAGGGGCTGCTCTGAGAATCCCAGGCCCCAGGCCCCACCTGCCTGGCTCTCCTCACCAGCAGTGAAATTATCCTCCCAGGAAATGCACCAGACCCCTTGATTCTGCCCCCAAGGCCTTGACCTCGGCCTGGCTTCCCCGAGACGTTGTGTCTGTGCCCCTTCTCCCCTGAGCTGAGCAGCAGTGTGTTCCCTAGTCCATTCCCAGCCCAGAGCATGCACCCCCCGCCCCGCCCCCACCTCCTTCCTCATCCTGGAGCCCAGGGAGCCCTGAGTCATGGCTCACCCGGCTGAGGCCCTCTTGCCCAGCTGAGACCCTCTAGGGACCCCCACAGTAACAGTGCCCAGAACAAAGCTGGCATCACAAAGCATCGGGGACTCTGCCTCAGCCCTTTGCCAGTCTTGTTTCCGTCCCGTCCTGCTGGCCCTGTCCCTGCCATCTGCCCTCTGCTGTGCCAGGCAGTCATTTGTTTCCCAGGGCTTGTTGGGGGCCTCCGGGCCTCCAGCCTGCCATCTCCTCACTCCCAATTGCTGTGCCAAAAGCCACTCTTCCCCACTAGAGCGTCCCCATGGCCCTTCTCCCAACACCCACCCATCCACCAAGCCCACCCCACCCCAGGAGGGCAAGACCCCATTTGGGTCCCTCTCATCTGCCTTCCAGGGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATGCAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAGGTGAGCCCGCCGCGGCTGGGACGGCTCAGGCCCTGCTGTCTGCTGAGCTCCTAGGCAGAGCTGGCTTCTCCTCGACAGCTCTTTAAAAACAGACTCGAATATTTTCATTAGGTAAT | GCTTGCAAGAGGCTACGTTGTGTGGCTCCAACTCGGTGAGTCAGCCCCGGGGCAGGACGTCAGGCCTGTGCTCTCCACCCAGCTGCGCTCTTCCACCTGGAGCCTTCCTGGCTGCTGGGCGCAGAGTGGGAGATTCTCCCCATGTGCCGGGCCACCTGCTGCCCCCTGCCCTGATTGCCCACTCTGGGGCCCGCAGATCCGTTGGAAGTACATGATTGTGGACGAAGGTCACCGCATGAAGAACCACCACTGCAAGCTGACGCAGGTGCTCAACACGCACTATGTGGCACCCCGCCGCCTGCTGCTGACGGGCACACCGCTGCAGAACAAGCTTCCCGAGCTCTGGGCGCTGCTCAACTTCCTGCTGCCCACCATCTTCAAGAGCTGCAGCACCTTCGAGCAGTGGTTTAACGCACCCTTTGCCATGACCGGGGAAAAGGTGGGTTTGCCCAGCTGTGCCCATGCTGACGGTTCCAGGTGCGGCTGGCTTTGCTGGTTGGAACGTGTTGAGCACCAGCTACAGCTGGCTGGGCCTGTGCTGGGTGCCTGGTGAGAGTCTGCATCTGCATGGAGCAGGGGAGCCCTGGAACCCAAGGCTGGGGCAGCCACAAGGGCCCCAGGGGAGCAGGGCAGAGGTCATGGTGGTGAATCTCGGAATGCTCGGGGCGTCTCTGACCCTATGCTCCAGGTGCAGAGTGGATGGTGAGGAAGATGGCCCTGAGGCAGCTGTGGGACCGCAAGCGTGTGGAGAGCACAGCTAGAGGCTGTAGCGTGCTGTAGGCCCCTTTAGGTGCCCTCAGAACTCACCCTCAGGGCAGTGGGAAGGAAACTTGGAAGATTCCAGTTAGCGGGGCCACATGGTCAGGTTCTGTCTTACGTTGTTTTCAAAAAGCTCAGTGGCCAGTGTGTCTCAATGTCTGGGTGGCACCATCAGCCAGACTGTGGCATGGCAGCATCATCATTGATGAGTGGTCCCACACCAGCACTGATCCCTGAGCCTAGAGCTCCTTGCTGTTGGAGGTTGAAACTGTGGGACAGACTGTGTTTCCTGCTGAGGGGTTTAAGTAACCAGATGCTGAAGTGTGGGCAGAACTACAGAGGTTACCTCGAAGTGCCCTGCCCAGCACGGCTGGGCCCACCCCCTTCTTCCCACCTTAGACAGGTCCAGGGCAGCTGGGGCCTTCCTGGCCTCATGCGTGAGTTCCCTGCCCTCTCGGCTGCTGGTCAAGGCAGAGACTCTTCTGATGGCGAAACCGAGGCATTCCCCAAAGCCTCGTGATAAAGGAGTCCCCAATTTTTAGACTCCCGGGACCCCCACACTAAGGGCCAGGATCTGATGCTATAGTTTTGTCACTTTCTGAGCCGAGCAAAAGCTCTGCCAAAGGATTGCCAGGGAAGCAATAGAAGAAAAGTTTTGGCGTCGTCTCATTTTCCTTTAACTTTTTTAATTAAAACATTTTAAAAGTTAATTATTAGTAGAGGAGTAGGCGCCGTGGGAGGTCAGGGTTTCTTTCACCTGGTTCCACCCAGGCTGAATGAGAGTCCCTTGGGGCTCCCGGTGGCAGAGCCCTCCCTGAGAATCACCCGCTATAAGCCCCATGTGGTCAGCCTGGCCCCTGCAGCGCTCCTGGCATGAGCTTGGCGTGGGGTGGGTCTGTGGACACTCCAGTTTGTGTTACTCGTGGAGAAGCAGCATGCCCGCTGCCGGGGGTCTTTCTGGTGAGGCACAGGGAGCAGAGTGCTCTGGGTACTGCGGTTCCATGTCCCAGGAATTACATGGAGGGAACCAGATCCTCACAGTTTCCTAAGGAAGAGGGTGCCCTGCCTGGCTCCCAGAAAGCATAAAGCAGGCTGAAAAGCCACGTGCCAAGGGCAAGATCACCCCAGGGGACCCCGTCCACCCTGTCCCCACATCCGCACCTTCTAGTGAGACCTCTGTCGCCCTCCTTTGGAGGTAACGCTTGCTTCTCCTGTCTTGGGGGCTTCCAGGTGGACCTGAATGAGGAGGAAACCATTCTCATCATCCGGCGTCTCCACAAAGTGCTGCGGCCTTCTTGCTCCGACGACTCAAGAAGGAAGTCGAGGCCCAGTTGCCCGAAAAGGTGATGGAGTTTTGAGGGGAGCCACCAGTGAAGCAGCCTCACGTGGGGGCTTTCTCCAGGGCTGGGCGTGCTCAGGGCCTCTCCCCACAGTCCCAGGCCTGCCCTGGTCAATCCAGCTTGGGGGTGGCGATGACGCCACTGGGTCTGTAAAGCCCTGTGCTGCTGTTGTAGGGATTGAAAAGCACTCATAGGCTCACATAGCTCACAATAGGTTAGAGCACAAAATCCCACTTCCTGTCAGGGGGCCAGGTGCCTGTGCGGGCTCTCCTGGCCACATCAGGAGGGGCCGTGGGCTTGGGGTTGCCCCCCGGCCCCCCATCATGGCTCTGGGTTTTCAAGGCCTGCTGCAGCCACACCCCTGGGCCCAGTTCCCACAGCAAGACCCATGGACTCGGGGTCCCCGGCTGCAGTTGTCCCTCTTGGCTCTTTGTTTCCTGGCTGGCTGTAGAGAGGCCCCCAGAAGATGGCTGGGGGGCCCTTTCTGGCCCAGTAACCCTCTGGTATCTCTGCCTGGTGCTTCCTCTCATTGCCCAGGTCTCCCCTCTTCTCCCCAGCTGTGAGGGTCTCCTCACCCACACCCCAGTGTGCTCTGGTCAGAGCTCATATGACAGGGCCGAGGGGGTCAGAGCTGGGTTCGGATGGGGGGAGTCAGGCCTCAAGCCACCTTGGGCCCTCGTGAGCATTATGTGTCCCCTGCAGGTGGAGTACGTCATCAAGTGCGACATGTCTGCGCTGCAGCGAGTGCTCTACCGCCACATGCAGGCCAAGGGCGTGCTGCTGACTGATGGCTCCGAGAAGGACAAGAAGGTGGGCCCCAGAGTCCCCCAACTGCATTCCCCACTGGGTGTCCAAGGCCGGCAGCGTGGCAGGCAGAGCAGAGCGTGCTCTGACCATCGGGTCATGATCTGGTCATGATCCCCAGGGCATCTGGCCAGCCCTGGTTATGATGGCTGGTGGCTTGTGTCAGGACACACTGACTCAGCTGCCAGTGGCTTCTCCTTTGCCTATGAAACACTGGCTCCTTCTGCAATTGGCAGCCTGGGCCCAGCACTAACCCCAGCAGGGTTAGAGTGTTCTAGAATGCCCCCCTTCTCTGTTATTAAGTGAAAGGAAGGGAGCGGGCTGTCTCCTGCAGGGGCTGCTCTGAGAATCCCAGGCCCCAGGCCCCACCTGCCTGGCTCTCCTCACCAGCAGTGAAATTATCCTCCCAGGAAATGCACCAGACCCCTTGATTCTGCCCCCAAGGCCTTGACCTCGGCCTGGCTTCCCCGAGACGTTGTGTCTGTGCCCCTTCTCCCCTGAGCTGAGCAGCAGTGTGTTCCCTAGTCCATTCCCAGCCCAGAGCATGCACCCCCCGCCCCGCCCCCACCTCCTTCCTCATCCTGGAGCCCAGGGAGCCCTGAGTCATGGCTCACCCGGCTGAGGCCCTCTTGCCCAGCTGAGACCCTCTAGGGACCCCCACAGTAACAGTGCCCAGAACAAAGCTGGCATCACAAAGCATCGGGGACTCTGCCTCAGCCCTTTGCCAGTCTTGTTTCCGTCCCGTCCTGCTGGCCCTGTCCCTGCCATCTGCCCTCTGCTGTGCCAGGCAGTCATTTGTTTCCCAGGGCTTGTTGGGGGCCTCCGGGCCTCCAGCCTGCCATCTCCTCACTCCCAATTGCTGTGCCAAAAGCCACTCTTCCCCACTAGAGCGTCCCCATGGCCCTTCTCCCAACACCCACCCATCCACCAAGCCCACCCCACCCCAGGAGGGCAAGACCCCATTTGGGTCCCTCTCATCTGCCTTCCAGGGCAAAGGCGGCACCAAGACCCTGATGAACACCATCATGCAGCTGCGGAAGATCTGCAACCACCCCTACATGTTCCAGCACATCGAGGTGAGCCCGCCGCGGCTGGGACGGCTCAGGCCCTGCTGTCTGCTGAGCTCCTAGGCAGAGCTGGCTTCTCCTCGACAGCTCTTTAAAAACAGACTCGAATATTTTCATTAGGTAATN | pathogenic | 296,986 |
Clinical significance of chromosome 19, position 11030821, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | GGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGTCTGTTGCAGGGGTCTCCCCGGCTTGCCTTCTTCCTTGGGGGCTTCCCACTTTCAGCTTTGAGGCTGAAAACCAAAATCCTTCAGGGTCCTCATGGCCGGGCCACCCCCCACCCTTTCCTCTCCTACGGTCTCTCCAGCGGCTTCTCCCGTCCTCGAGAGGGCCAAGGCTTCCTGAGGGCCATCCCGTCTGTGTCGTGTCCCTGACTCCCCCAGGAGAGAGCCTGGTTCCCACCCATCCCAGTGCCCTTCTGCCTACTCCATAAGGACAAGGACTTTGGTCAGTTGAACTACAGATGTGTCCTCTGCATGTGATGTGGTCATGGCCACAGGGCCAGAGAATCCATTGCGAGTAGAGGAAGGGTAGGAGCTCAGTGAAGTCTCCTGAGACTGCATCTCCCATGGGTGGGCTGGCATCTGGGAGCCGGGTGGCCCCTCACCTCAGCCCCTCCTCCGAGCTGGAGTAGCAGGGGCACATCTGGTGCCTGAGAGAGGGTGGGACGGCAGGTGGATGGCCAGGCTACTGTGGGCTTCTGCACCGTGCCTGGGCATGTGTAGGCTGGTGGCAGGAAATGGCCAGTTTTTATTTCTTCTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCGCCTGGATTCAAGCGATTCTCCTGCCTCATCCTCCCTGGTATCTGGGATTACAGGCGCCCGCCACTACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACCGCGCCCGGCCTGCCAGTTTTTATTTCATCACCAAAATGACTTCAGTGTTCAGGGGCACCTCTGTCCGAACTCCCAGCAGCGCAGGGAGTGTTGACATTGCCTTAATGCCCACAACGCTGAGGGCATCGTGGGTTGTCACCCAGGAGACCTGCTCTGGCTCCTTGACTTGGGTTTTCTGGGGCATGGGGACACTGATCCTGCCAGAAAGGACACGAGCCCCCTTTATAAGGTCTCCATGCTTTTACCGTAGAAGATTCTCTTTGTGAACCACAAAACTTTTTGAGACAGGGCTGAAGGCAGGTGCACCCACAGTCACTGTCCACCCACCCCCAGGTCCCTTGTGTTGCGAGCGGCGGTGTTGCCGGCATTGGCCGCTGTGTCTTCCGCTCCCCATGGAATGGCACAGGGTAGAGTAGAGGAGAGAATCCAGGGCTGTGGTGGTGGTGGCTGTGCTGACGCTGGACGCTGTGGCCTAGCTGTGGGCTGGGTGCTGGACTCTGTGCTCCAGGCCCACCTCCTCTAGTTCTCCCAGCGGGGCCTGTTTTCATTTCTGGGATGTGTGGAGAGACGTTTTGTGGTGAAACACTGGAAATCCAGTTATTCGCCAGTGGCCCACAGGCCCGTGTGGAGAGTGCGGAGCCAGGGATCTGGGGATGCTGGCAGGTGCTGATCCTGCTCCTGCTCTCAGAAGCAGGTGTTCCTTGGTGTCCCCACTCTACCCCTGAGGTCACCCCGCTGACCCTGTTCTCCTCTGTGCCCGTCAGGAACCACGAAGGCGGAGGACCGGGGCATGCTGCTGAAAACCTTCAACGAGCCCGGCTCTGAGTACTTCATCTTCCTGCTCAGCACCCGGGCTGGGGGGCTCGGCCTGAACCTCCAGTCGGCAGACACTGTGATCATTTTTGACAGCGACTGGAATCCTCACCAGGTAAAAGCGGGCCGGGCCCCAGGTCGAGGAGAAGGAAGGGGGTGCCTGCAAAACCTCGAGGAGACGGCCCTGGCTTGAGGGTCCTCCAGCCTCCTCCACATTGTCTTGGACCCCAGGAGCCGGGAGGAGCTGCACCCATATCTCCATAGGTCATCAGGGAGAAAAGAGGCGGGGTCCTCCTGTTTCCCAAAATACAAACAGCCTTTCCCTCTGATTGGGAAAGCAGTGTATAAGCCATCCGTCGGTTTGGTTTTTCTTAAATCTTGGAATGGCACCCATGAGGAGGTGGAAAGTATCCTGATCAATCTGCGCCGTCACTGTGGGGCGGCCCCTGCAGTGTGCCCTGTGAGCACACACACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACACAGATGCGGCGTGGCCTAGCATGTGCCTCTTCCACCAAGCAGTGGGTGTCAACCGCCGAGTGCACATCGGAAGCTACCCAGCCATCTAATCGGCCACCAGGCGTCCCGGCAGATGGCCACCCCTGGACGTCTGCTCTCAAACTCTGGTTGGCAGGCATCCGTCTTTTCTGTTGATCAGCCTGGTCACCAACCCAGCAGGGTCCCTCTTTCTCTCAGAGTGCTTGTGCAAACACCCTAGGTCTGCGCAGCCCTCAGACATGGGGTCGCTCCACCCCAGACATTGTCCTCTTCGTGTTCTGGTTGCTACTGCCAAAGTGGTTTCACTCCTACGCTGGGGTGTGAATGTACCCTGCCCTTCCCTGCAGCGTGAGGGCAGCAGCGTTCTCAGTGTGTAAATTGTCGCTTGTCTGATGGGTGAATGCCGTGGTGGTCACTGGTGGCCCCTTTTACGATCAGGCTGGGGTGTAGCTTCTGCCCAGACCCTGGTGACCAGCCAGTTTCTTAGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTGTGAGA | GGAGCCCTGGAGTGAGTTCTTCGTGGGAGTTACTAGAACTGGGCTTACGAGAAACACGAGCATGAGCTGCTGAGACAGACACGGCTCAGCCAGTTTGTTGTTCCCTACACGACCTCCCAGAGCCTTTGTTGAAGCTCCTGTGCAAGGTCTGTCTCACAGCAGGACACCCCAGACCTCCATACCCCTTGTCCCGTTGATCACTTGGACCTGTGTTTGCTGGGCCAACCTGCCCAGGTGCCACCCGGAGTGTGCCCTGTGTGTCCCTCCAAACTGCAGGTCCTCCCCGGGGTTCTGTCCAGGACCACTCTACAGACACGAGTCTGTTGCAGGGGTCTCCCCGGCTTGCCTTCTTCCTTGGGGGCTTCCCACTTTCAGCTTTGAGGCTGAAAACCAAAATCCTTCAGGGTCCTCATGGCCGGGCCACCCCCCACCCTTTCCTCTCCTACGGTCTCTCCAGCGGCTTCTCCCGTCCTCGAGAGGGCCAAGGCTTCCTGAGGGCCATCCCGTCTGTGTCGTGTCCCTGACTCCCCCAGGAGAGAGCCTGGTTCCCACCCATCCCAGTGCCCTTCTGCCTACTCCATAAGGACAAGGACTTTGGTCAGTTGAACTACAGATGTGTCCTCTGCATGTGATGTGGTCATGGCCACAGGGCCAGAGAATCCATTGCGAGTAGAGGAAGGGTAGGAGCTCAGTGAAGTCTCCTGAGACTGCATCTCCCATGGGTGGGCTGGCATCTGGGAGCCGGGTGGCCCCTCACCTCAGCCCCTCCTCCGAGCTGGAGTAGCAGGGGCACATCTGGTGCCTGAGAGAGGGTGGGACGGCAGGTGGATGGCCAGGCTACTGTGGGCTTCTGCACCGTGCCTGGGCATGTGTAGGCTGGTGGCAGGAAATGGCCAGTTTTTATTTCTTCTTTTTTTTGAGACGGAGTTTCACTCTTGTTGCCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCGCCGCCTGGATTCAAGCGATTCTCCTGCCTCATCCTCCCTGGTATCTGGGATTACAGGCGCCCGCCACTACGCCCAGCTAATTTTCTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCCTGTCCTCAGGCGATCCACCCACCTCAGCCTCCCAAAGTGTTGGGATTACAGGCATGAGTCACCGCGCCCGGCCTGCCAGTTTTTATTTCATCACCAAAATGACTTCAGTGTTCAGGGGCACCTCTGTCCGAACTCCCAGCAGCGCAGGGAGTGTTGACATTGCCTTAATGCCCACAACGCTGAGGGCATCGTGGGTTGTCACCCAGGAGACCTGCTCTGGCTCCTTGACTTGGGTTTTCTGGGGCATGGGGACACTGATCCTGCCAGAAAGGACACGAGCCCCCTTTATAAGGTCTCCATGCTTTTACCGTAGAAGATTCTCTTTGTGAACCACAAAACTTTTTGAGACAGGGCTGAAGGCAGGTGCACCCACAGTCACTGTCCACCCACCCCCAGGTCCCTTGTGTTGCGAGCGGCGGTGTTGCCGGCATTGGCCGCTGTGTCTTCCGCTCCCCATGGAATGGCACAGGGTAGAGTAGAGGAGAGAATCCAGGGCTGTGGTGGTGGTGGCTGTGCTGACGCTGGACGCTGTGGCCTAGCTGTGGGCTGGGTGCTGGACTCTGTGCTCCAGGCCCACCTCCTCTAGTTCTCCCAGCGGGGCCTGTTTTCATTTCTGGGATGTGTGGAGAGACGTTTTGTGGTGAAACACTGGAAATCCAGTTATTCGCCAGTGGCCCACAGGCCCGTGTGGAGAGTGCGGAGCCAGGGATCTGGGGATGCTGGCAGGTGCTGATCCTGCTCCTGCTCTCAGAAGCAGGTGTTCCTTGGTGTCCCCACTCTACCCCTGAGGTCACCCCGCTGACCCTGTTCTCCTCTGTGCCCGTCAGGAACCACGAAGGCGGAGGACCGGGGCATGCTGCTGAAAACCTTCAACGAGCCCGGCTCTGAGTACTTCATCTTCCTGCTCAGCACCCGGGCTGGGGGGGCTCGGCCTGAACCTCCAGTCGGCAGACACTGTGATCATTTTTGACAGCGACTGGAATCCTCACCAGGTAAAAGCGGGCCGGGCCCCAGGTCGAGGAGAAGGAAGGGGGTGCCTGCAAAACCTCGAGGAGACGGCCCTGGCTTGAGGGTCCTCCAGCCTCCTCCACATTGTCTTGGACCCCAGGAGCCGGGAGGAGCTGCACCCATATCTCCATAGGTCATCAGGGAGAAAAGAGGCGGGGTCCTCCTGTTTCCCAAAATACAAACAGCCTTTCCCTCTGATTGGGAAAGCAGTGTATAAGCCATCCGTCGGTTTGGTTTTTCTTAAATCTTGGAATGGCACCCATGAGGAGGTGGAAAGTATCCTGATCAATCTGCGCCGTCACTGTGGGGCGGCCCCTGCAGTGTGCCCTGTGAGCACACACACTGGCGCTTGTTCAGACACAATTGGGGGTAAACTCCATGCCACTTCGTTTACTTCCTCCTCTTGTTCCATAACCATGTACCCCTCATGGGCCTCGGCATCGGTGGATACCAGGTCATGCTGTTACATAGCTACAAGAATTTGAAAATGAGTTAAACTTTTCTCTGTGTTTCATTATAAGACTGATAAGTTCTTATTGTTTTTAACATGTAAACACCAGTGACAGTCAGGAGTCCCTTTTCCCTTCCTCTCCAACCGTGCTCTCTTCTGAGCCTCTGCCAGCCCATCTGCCTTCGCACATGTATGTACTGAGATTAACACAGATGCGGCGTGGCCTAGCATGTGCCTCTTCCACCAAGCAGTGGGTGTCAACCGCCGAGTGCACATCGGAAGCTACCCAGCCATCTAATCGGCCACCAGGCGTCCCGGCAGATGGCCACCCCTGGACGTCTGCTCTCAAACTCTGGTTGGCAGGCATCCGTCTTTTCTGTTGATCAGCCTGGTCACCAACCCAGCAGGGTCCCTCTTTCTCTCAGAGTGCTTGTGCAAACACCCTAGGTCTGCGCAGCCCTCAGACATGGGGTCGCTCCACCCCAGACATTGTCCTCTTCGTGTTCTGGTTGCTACTGCCAAAGTGGTTTCACTCCTACGCTGGGGTGTGAATGTACCCTGCCCTTCCCTGCAGCGTGAGGGCAGCAGCGTTCTCAGTGTGTAAATTGTCGCTTGTCTGATGGGTGAATGCCGTGGTGGTCACTGGTGGCCCCTTTTACGATCAGGCTGGGGTGTAGCTTCTGCCCAGACCCTGGTGACCAGCCAGTTTCTTAGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTGTGAG | pathogenic | 297,115 |
Gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4) variant at chromosome 19, position 11034121—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | AGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATTGTCAGGCCGAGGGTGGCACGCACAGCACACCTCTCCAGCTAGTGTCAGAGGCCACCTTCCCTTTTATGACCTCCTGGGCTCCTTTGGGACTGACTGGCACCTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGTGTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTACAAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGCCATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAGGTGAGCCCAGCACCGGCCCCGACCCCTCCCCAGCGTGAATGGTGGACGCGTGAGCGGCTTTCATTTTTGTTTTTTTACCTTTTTTGCACTCTTATTTTTTTTGCATCCCTTTGGAGTAAAGGGAGTGTGGGCTGAACGGAAAGAGGATGAGTACTTGCTTTTTCTTTGAAGTGGTTTTTTTTTCTAAACTGCTGGTGAAAGACGCCGGATTGACAGCCCTGGAGACTGAAGTCCTCTATTTATCCACAGAGCAGACACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGCGTCAACCCCGACTTGGAGGAGCCACCTCTAAAGGTGAGAGGGGTAGTTCAGTCTCCATGCCCATTCAATCCTCGGCTTCTCGGCTGAGACGGCCAGCAAGGGCCCTGGTCCCACGGAGCGTGCGTGTGCGTGTGCGTGTGTGTGCCTTTCGCTGCCGTGTGGGTCCCCATCCACCGCAGCCGTGCCGGGACCACCAGCTCATTCCCACGGACGCCGCCGCTCGCCTCTGAGCTCGGCCGCCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCACTCTGCTGCCACCAGGAGCAAAGCAGACGTCCTAGTGCCCATGGTGGTATCCCTAGCAGGTCAGGGAGCCAGGGACAGCTCACAGTGCAGCCCACTCCCACCTCCAGACTGACCCGTCTTCCACCCCCAGTCTCCTGAGGATGGCATCGGAGGGCGAGATGCACACCCAGCCTTCTGCATGTGACCCGAGACCTGCCCCACCAGCTCTGTTTTCTAACGGGCTCTCCAGGGCTTCATGCACTCCCTTTCAGAGGGAGTTCGCCCTATCCAAGGCCAAGGGACTGACCAGGCCTTCAGTCGCAGAGCCCCCTTGCCCCTGGGTGGGAAACAGGAAATAAGCCACCCAAGCAGGGGCCCCTTGGCCCGCAGGCCTCATGCCTCCACCAACGCTGGGCCACGCAGCTGCTGCCCCCCTGCTGGGGTCTGCAGCCCTCTTGTGCAACCTTCCATCTTTTCGAGTTTCCTCTGCCTCCTGAGGCAGAGCCTCTAGTCAGGGTCTGACGGAGCCAGGCCAGGTCAGCCACTGAAAAATCGAGAGCTACTGTTTAACTCTCGCAGCAGCGTGGAGCCCCACGGGCAGAGAAAGGCCCTTCTGAACTCTCGGTGTTCTGGCTCTAGCGTGCCCCTGGTGCCTGCATGCTGATGCCTCTCCCGTTGCCTCCCTGCCCACCAGCGCATGGACCTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGCGACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGCAGGCCAGCGCCAGGCAGGGCTGGGGAGACAAAGGGCCCACCGCCAGGACTCAGGCCTGGGTCCAAAATGCTTTCCTTGGGCCACTCCTGGCCAGGCTCCGCAGGCAGCCGAGAGCCTTCCGATGTGGGCCAGGGATGGTCAGGTCCTTTTGGCTCTGCCTTGGAATGCAAGAAGGACCCACGGTTCCTGAGCAGCTCAAAACCTGCTGCTGGTTATGGTTGGTCTTTCAAGTAAAAGGGTTTACCTCTTCCCGAGGTTAAAAATCATGTTGCTGATCTCAGTGGACTGCTGGCTTTCCCAGTACCTGCCAGGAGGGAGGCACAAGGGTGAATCATGGACTATTGAGGCGCCCTGCAAAGCGTTGCACTGCTGGCTGCAGGCAGCCTCACTTTGGGCAAGTCCCCCCCCATGAGCTGGGGAGACTCAGTCATGGGGAGGGAGGAGAGGGCAAGCCCCCAAGGGCCTCTGAACCTGGCAGGTGCTGCACGGGGCTGGCAGTTGCTTGTGGAGCTGACGTGAGGGCCCGTTCTCAGCAGATGGCAGCTGGCCCTGCAACAGCAGCTGCAGATGTCTTTGAGTCAGTCGTGCGGTGCTCCTGGGGCTTCACCCGACCCAACTTTCCCAGCCCAAGGCACACTGTGACAGATGCCTGGCACTGATGTCCTCACTGGGGTTACGGTGACAGATCAGACCCCTTCCCAGCTCAGGGGCTCTGAGTTATAGAGACGATGATTCAGAATCCATCCCTGAAGTTGTGTCATAAAAATGTCCTGAAGCAATAATTCCGAGAAGGCAGGTGGCAGCTTTTGGCTATGCCATGCAAAGTGCCACACCCAGGAAAGAGCCATGTGGCCTAGCCCATGTGGCCAAACAGCCCCGGTTCCCTCCTGGGACCTCAGCAGCCCAGACTCATGAGCTTGCCTGCCAAGCTGTGCACCAGAGGGCGCTGTTGAAACACACCAGGAGCCCAGGTGACAGACAGGCCATCCTGTTCCCCAGCCAGCC | AGGAGGTGGTTGAGTTGTGTGTCCCCGTTGGCAGGCCGGCAGCAGGCGGAAGCTGCACCTCAGGGCTGGGGGCGCGTTGGGGAGGGCTGGCCCTGCCAGGAAGTGTGCTGACAGGGCAGGAGGGCTGAGCGGCAGACACAAGGCACTCCTGGTCCCCACCAGCTGTGGCCTCTGCCACCCCATGGGTGCCAGTCTTAAGTTTCAGAGCATCACTGGTACTCACCCTGGTCCTGCAGCTCCTGGGCCCAGAGACAGGATTTCGTGTTAGCCTCCTCGTACTGTGCTGGGGTGATGATAAAACTAACAACCCAGGCTGGACGCAGTGGCTCACACCCGAAATCCCAACATTTTGGGAGGCCGAGGTGGGTGGATCAACTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGCGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGTGCATGCCTGTAGCCCCAGCTACTCAGGAAGCTGAGGCAGAAAAATCGCTTGAACTTCGGGAGGCAGAGGTTGCAGTGAGCTGAGATCGCACCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTTTGTCTCAAAAAAAAAAAAAAAGAAAAAAAGCCCATCCACGGCACCTGCATTGTTGGGAGCTAACTGCACCAGTCACTGGGCCACACTCCTGGTGCTTATTCACTCATTCGAGGTATGCAGTAGCCACGGGTTGGGCCCCATGTAGGCTGAGGGAGTTTTGAGGCTCACAGAGGTGAGACCTGGTTCCGGTTCTGTGTGCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATTGTCAGGCCGAGGGTGGCACGCACAGCACACCTCTCCAGCTAGTGTCAGAGGCCACCTTCCCTTTTATGACCTCCTGGGCTCCTTTGGGACTGACTGGCACCTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGTGTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTACAAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGCCATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAGGTGAGCCCAGCACCGGCCCCGACCCCTCCCCAGCGTGAATGGTGGACGCGTGAGCGGCTTTCATTTTTGTTTTTTTACCTTTTTTGCACTCTTATTTTTTTTGCATCCCTTTGGAGTAAAGGGAGTGTGGGCTGAACGGAAAGAGGATGAGTACTTGCTTTTTCTTTGAAGTGGTTTTTTTTTCTAAACTGCTGGTGAAAGACGCCGGATTGACAGCCCTGGAGACTGAAGTCCTCTATTTATCCACAGAGCAGACACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGCGTCAACCCCGACTTGGAGGAGCCACCTCTAAAGGTGAGAGGGGTAGTTCAGTCTCCATGCCCATTCAATCCTCGGCTTCTCGGCTGAGACGGCCAGCAAGGGCCCTGGTCCCACGGAGCGTGCGTGTGCGTGTGCGTGTGTGTGCCTTTCGCTGCCGTGTGGGTCCCCATCCACCGCAGCCGTGCCGGGACCACCAGCTCATTCCCACGGACGCCGCCGCTCGCCTCTGAGCTCGGCCGCCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCACTCTGCTGCCACCAGGAGCAAAGCAGACGTCCTAGTGCCCATGGTGGTATCCCTAGCAGGTCAGGGAGCCAGGGACAGCTCACAGTGCAGCCCACTCCCACCTCCAGACTGACCCGTCTTCCACCCCCAGTCTCCTGAGGATGGCATCGGAGGGCGAGATGCACACCCAGCCTTCTGCATGTGACCCGAGACCTGCCCCACCAGCTCTGTTTTCTAACGGGCTCTCCAGGGCTTCATGCACTCCCTTTCAGAGGGAGTTCGCCCTATCCAAGGCCAAGGGACTGACCAGGCCTTCAGTCGCAGAGCCCCCTTGCCCCTGGGTGGGAAACAGGAAATAAGCCACCCAAGCAGGGGCCCCTTGGCCCGCAGGCCTCATGCCTCCACCAACGCTGGGCCACGCAGCTGCTGCCCCCCTGCTGGGGTCTGCAGCCCTCTTGTGCAACCTTCCATCTTTTCGAGTTTCCTCTGCCTCCTGAGGCAGAGCCTCTAGTCAGGGTCTGACGGAGCCAGGCCAGGTCAGCCACTGAAAAATCGAGAGCTACTGTTTAACTCTCGCAGCAGCGTGGAGCCCCACGGGCAGAGAAAGGCCCTTCTGAACTCTCGGTGTTCTGGCTCTAGCGTGCCCCTGGTGCCTGCATGCTGATGCCTCTCCCGTTGCCTCCCTGCCCACCAGCGCATGGACCTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGCGACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGCAGGCCAGCGCCAGGCAGGGCTGGGGAGACAAAGGGCCCACCGCCAGGACTCAGGCCTGGGTCCAAAATGCTTTCCTTGGGCCACTCCTGGCCAGGCTCCGCAGGCAGCCGAGAGCCTTCCGATGTGGGCCAGGGATGGTCAGGTCCTTTTGGCTCTGCCTTGGAATGCAAGAAGGACCCACGGTTCCTGAGCAGCTCAAAACCTGCTGCTGGTTATGGTTGGTCTTTCAAGTAAAAGGGTTTACCTCTTCCCGAGGTTAAAAATCATGTTGCTGATCTCAGTGGACTGCTGGCTTTCCCAGTACCTGCCAGGAGGGAGGCACAAGGGTGAATCATGGACTATTGAGGCGCCCTGCAAAGCGTTGCACTGCTGGCTGCAGGCAGCCTCACTTTGGGCAAGTCCCCCCCCATGAGCTGGGGAGACTCAGTCATGGGGAGGGAGGAGAGGGCAAGCCCCCAAGGGCCTCTGAACCTGGCAGGTGCTGCACGGGGCTGGCAGTTGCTTGTGGAGCTGACGTGAGGGCCCGTTCTCAGCAGATGGCAGCTGGCCCTGCAACAGCAGCTGCAGATGTCTTTGAGTCAGTCGTGCGGTGCTCCTGGGGCTTCACCCGACCCAACTTTCCCAGCCCAAGGCACACTGTGACAGATGCCTGGCACTGATGTCCTCACTGGGGTTACGGTGACAGATCAGACCCCTTCCCAGCTCAGGGGCTCTGAGTTATAGAGACGATGATTCAGAATCCATCCCTGAAGTTGTGTCATAAAAATGTCCTGAAGCAATAATTCCGAGAAGGCAGGTGGCAGCTTTTGGCTATGCCATGCAAAGTGCCACACCCAGGAAAGAGCCATGTGGCCTAGCCCATGTGGCCAAACAGCCCCGGTTCCCTCCTGGGACCTCAGCAGCCCAGACTCATGAGCTTGCCTGCCAAGCTGTGCACCAGAGGGCGCTGTTGAAACACACCAGGAGCCCAGGTGACAGACAGGCCATCCTGTTCCCCAGCCAGCCN | pathogenic | 297,211 |
A mutation at chromosome position 11034906 on chromosome 19 in gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | GCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATTGTCAGGCCGAGGGTGGCACGCACAGCACACCTCTCCAGCTAGTGTCAGAGGCCACCTTCCCTTTTATGACCTCCTGGGCTCCTTTGGGACTGACTGGCACCTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGTGTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTACAAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGCCATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAGGTGAGCCCAGCACCGGCCCCGACCCCTCCCCAGCGTGAATGGTGGACGCGTGAGCGGCTTTCATTTTTGTTTTTTTACCTTTTTTGCACTCTTATTTTTTTTGCATCCCTTTGGAGTAAAGGGAGTGTGGGCTGAACGGAAAGAGGATGAGTACTTGCTTTTTCTTTGAAGTGGTTTTTTTTTCTAAACTGCTGGTGAAAGACGCCGGATTGACAGCCCTGGAGACTGAAGTCCTCTATTTATCCACAGAGCAGACACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGCGTCAACCCCGACTTGGAGGAGCCACCTCTAAAGGTGAGAGGGGTAGTTCAGTCTCCATGCCCATTCAATCCTCGGCTTCTCGGCTGAGACGGCCAGCAAGGGCCCTGGTCCCACGGAGCGTGCGTGTGCGTGTGCGTGTGTGTGCCTTTCGCTGCCGTGTGGGTCCCCATCCACCGCAGCCGTGCCGGGACCACCAGCTCATTCCCACGGACGCCGCCGCTCGCCTCTGAGCTCGGCCGCCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCACTCTGCTGCCACCAGGAGCAAAGCAGACGTCCTAGTGCCCATGGTGGTATCCCTAGCAGGTCAGGGAGCCAGGGACAGCTCACAGTGCAGCCCACTCCCACCTCCAGACTGACCCGTCTTCCACCCCCAGTCTCCTGAGGATGGCATCGGAGGGCGAGATGCACACCCAGCCTTCTGCATGTGACCCGAGACCTGCCCCACCAGCTCTGTTTTCTAACGGGCTCTCCAGGGCTTCATGCACTCCCTTTCAGAGGGAGTTCGCCCTATCCAAGGCCAAGGGACTGACCAGGCCTTCAGTCGCAGAGCCCCCTTGCCCCTGGGTGGGAAACAGGAAATAAGCCACCCAAGCAGGGGCCCCTTGGCCCGCAGGCCTCATGCCTCCACCAACGCTGGGCCACGCAGCTGCTGCCCCCCTGCTGGGGTCTGCAGCCCTCTTGTGCAACCTTCCATCTTTTCGAGTTTCCTCTGCCTCCTGAGGCAGAGCCTCTAGTCAGGGTCTGACGGAGCCAGGCCAGGTCAGCCACTGAAAAATCGAGAGCTACTGTTTAACTCTCGCAGCAGCGTGGAGCCCCACGGGCAGAGAAAGGCCCTTCTGAACTCTCGGTGTTCTGGCTCTAGCGTGCCCCTGGTGCCTGCATGCTGATGCCTCTCCCGTTGCCTCCCTGCCCACCAGCGCATGGACCTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGCGACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGCAGGCCAGCGCCAGGCAGGGCTGGGGAGACAAAGGGCCCACCGCCAGGACTCAGGCCTGGGTCCAAAATGCTTTCCTTGGGCCACTCCTGGCCAGGCTCCGCAGGCAGCCGAGAGCCTTCCGATGTGGGCCAGGGATGGTCAGGTCCTTTTGGCTCTGCCTTGGAATGCAAGAAGGACCCACGGTTCCTGAGCAGCTCAAAACCTGCTGCTGGTTATGGTTGGTCTTTCAAGTAAAAGGGTTTACCTCTTCCCGAGGTTAAAAATCATGTTGCTGATCTCAGTGGACTGCTGGCTTTCCCAGTACCTGCCAGGAGGGAGGCACAAGGGTGAATCATGGACTATTGAGGCGCCCTGCAAAGCGTTGCACTGCTGGCTGCAGGCAGCCTCACTTTGGGCAAGTCCCCCCCCATGAGCTGGGGAGACTCAGTCATGGGGAGGGAGGAGAGGGCAAGCCCCCAAGGGCCTCTGAACCTGGCAGGTGCTGCACGGGGCTGGCAGTTGCTTGTGGAGCTGACGTGAGGGCCCGTTCTCAGCAGATGGCAGCTGGCCCTGCAACAGCAGCTGCAGATGTCTTTGAGTCAGTCGTGCGGTGCTCCTGGGGCTTCACCCGACCCAACTTTCCCAGCCCAAGGCACACTGTGACAGATGCCTGGCACTGATGTCCTCACTGGGGTTACGGTGACAGATCAGACCCCTTCCCAGCTCAGGGGCTCTGAGTTATAGAGACGATGATTCAGAATCCATCCCTGAAGTTGTGTCATAAAAATGTCCTGAAGCAATAATTCCGAGAAGGCAGGTGGCAGCTTTTGGCTATGCCATGCAAAGTGCCACACCCAGGAAAGAGCCATGTGGCCTAGCCCATGTGGCCAAACAGCCCCGGTTCCCTCCTGGGACCTCAGCAGCCCAGACTCATGAGCTTGCCTGCCAAGCTGTGCACCAGAGGGCGCTGTTGAAACACACCAGGAGCCCAGGTGACAGACAGGCCATCCTGTTCCCCAGCCAGCCTCCCAAGCACAGCGCTCCAGGACCCAGAAGAGAAACCCTGAAAAGACAGTGTGAGCCCTGCCACAGACCTGTGTGACAGCAGAGCTGTTTGGCTGCTGTATGAGTGTCACCGGCCCTGCATTTTTTTCTTTTTTAATAAAGACAAAGTCTTGCTGTGTTACCCAGGCTGGCCTCCAGTTCCTGGGGGCTCAAGTGATCCTCACACCTCAGCCTCCTGAGTAGTTCAGACTACAGGTACACACCAACACGCCTGGCTAATTTTAAATTTTTTGTAAAGTGGGGGTCTCACTGTGTCACTCAGGCTGGTCTCAAACTCCTGGGCTCAAACAATCCACCCGCCTCGGCCTGCAGAGTAGCTGGGATTACGAGCATGAGCCACGGTGCCCAGCTCAGCCCTGCATATTTGAGGCAGTGAGTACCTTTTAAATTTAAGATCAGTTCATACGTGGCTGCTCTATGTACATTTTTTTCTAGGTGTAATTTACATACCATACAGTTCACCCTTTTGGGGTATATGATACAATCATCTTCAGTGTATCCAAGAGTTGTGCATCTCTCACCACAGTCCATTTTAGAACATTCTCATCGCCCCCAAAAGAAGCCCTGCCCCGATTTGCCATTCCTGGTAATTCATGGATTCTCCCCAGCCCCAGGCAACCACTGATGTACTTTCTGTCCATATAGTTTTACCTGTTCTGGGCGTTTCCTGTCAGTGGAGTCCTACAGCGTGGGATGCTTTGGTGTCAGGCTTTTTTCACGCAATGTAACATGCTGACCCATGATGC | GCACTGTGAGAGTGGCAGGGCCCACAGCCAAACCAAGCACTGCCACAACACGGCCGAGCTTCGGCCCCCTGTTGTAAATGGTGCTCGACTGTGTAGGTCCACGCTGTGGGGAGCTGTGCCGCTGCCACGGGAGCTGCTTGAGAATATAATCCCCTGGGGGGTTGGTGCTTTCTTCCCGAATATCTGTGGGGTCCCAATAAGGTAGAAGGTGGCACTTCTGGAGGAACGTGATGAGAGTCCCCTTCCCCCGAGGGACACATGGCGGCCCAGGCTCCACCAGCTCTGTTTTCATGCGGCGGCAGGTCAGGCTGGGCAGAATTGTCAGGCCGAGGGTGGCACGCACAGCACACCTCTCCAGCTAGTGTCAGAGGCCACCTTCCCTTTTATGACCTCCTGGGCTCCTTTGGGACTGACTGGCACCTCTTCCCCCAGGACCTGCAAGCGCAGGACCGAGCCCACCGCATCGGGCAGCAGAACGAGGTGCGTGTGCTCCGCCTCTGCACCGTCAACAGCGTGGAGGAGAAGATCCTAGCTGCAGCCAAGTACAAGCTCAACGTGGACCAGAAGGTGATCCAGGCCGGCATGTTCGACCAGAAGTCCTCCAGCCATGAGCGGCGCGCCTTCCTGCAGGCCATCCTGGAGCACGAGGAGCAGGATGAGGTGAGCCCAGCACCGGCCCCGACCCCTCCCCAGCGTGAATGGTGGACGCGTGAGCGGCTTTCATTTTTGTTTTTTTACCTTTTTTGCACTCTTATTTTTTTTGCATCCCTTTGGAGTAAAGGGAGTGTGGGCTGAACGGAAAGAGGATGAGTACTTGCTTTTTCTTTGAAGTGGTTTTTTTTTCTAAACTGCTGGTGAAAGACGCCGGATTGACAGCCCTGGAGACTGAAGTCCTCTATTTATCCACAGAGCAGACACTGCAGCACGGGCAGCGGCAGTGCCAGCTTCGCCCACACTGCCCCTCCGCCAGCGGGCGTCAACCCCGACTTGGAGGAGCCACCTCTAAAGGTGAGAGGGGTAGTTCAGTCTCCATGCCCATTCAATCCTCGGCTTCTCGGCTGAGACGGCCAGCAAGGGCCCTGGTCCCACGGAGCGTGCGTGTGCGTGTGCGTGTGTGTGCCTTTCGCTGCCGTGTGGGTCCCCATCCACCGCAGCCGTGCCGGGACCACCAGCTCATTCCCACGGACGCCGCCGCTCGCCTCTGAGCTCGGCCGCCGCCCACCCCGGCCCCTCCTCAGCGGCACTGACAGTTTGCAATCTTATAGGAGGAAGACGAGGTGCCCGACGACGAGACCGTCAACCAGATGATCGCCCGGCACGAGGAGGAGTTTGATCTGTTCATGGTAAGCGCTGCAGGCTGGATGGGGCAGTTCAGGCATCCCACTCTGCTGCCACCAGGAGCAAAGCAGACGTCCTAGTGCCCATGGTGGTATCCCTAGCAGGTCAGGGAGCCAGGGACAGCTCACAGTGCAGCCCACTCCCACCTCCAGACTGACCCGTCTTCCACCCCCAGTCTCCTGAGGATGGCATCGGAGGGCGAGATGCACACCCAGCCTTCTGCATGTGACCCGAGACCTGCCCCACCAGCTCTGTTTTCTAACGGGCTCTCCAGGGCTTCATGCACTCCCTTTCAGAGGGAGTTCGCCCTATCCAAGGCCAAGGGACTGACCAGGCCTTCAGTCGCAGAGCCCCCTTGCCCCTGGGTGGGAAACAGGAAATAAGCCACCCAAGCAGGGGCCCCTTGGCCCGCAGGCCTCATGCCTCCACCAACGCTGGGCCACGCAGCTGCTGCCCCCCTGCTGGGGTCTGCAGCCCTCTTGTGCAACCTTCCATCTTTTCGAGTTTCCTCTGCCTCCTGAGGCAGAGCCTCTAGTCAGGGTCTGACGGAGCCAGGCCAGGTCAGCCACTGAAAAATCGAGAGCTACTGTTTAACTCTCGCAGCAGCGTGGAGCCCCACGGGCAGAGAAAGGCCCTTCTGAACTCTCGGTGTTCTGGCTCTAGCGTGCCCCTGGTGCCTGCATGCTGATGCCTCTCCCGTTGCCTCCCTGCCCACCACCAGCGCATGGACCTGGACCGCAGGCGCGAGGAGGCCCGCAACCCCAAGCGGAAGCCGCGCCTCATGGAGGAGGACGAGCTCCCCTCGTGGATCATCAAGGACGACGCGGAGGTGGAGCGGCTGACCTGTGAGGAGGAGGAGGAGAAGATGTTCGGCCGTGGCTCCCGCCACCGCAAGGAGGTGGACTACAGCGACTCACTGACGGAGAAGCAGTGGCTCAAGGTACATGCTGGAGAGGCCCAGCAGCTGCCGCAGGCCAGCGCCAGGCAGGGCTGGGGAGACAAAGGGCCCACCGCCAGGACTCAGGCCTGGGTCCAAAATGCTTTCCTTGGGCCACTCCTGGCCAGGCTCCGCAGGCAGCCGAGAGCCTTCCGATGTGGGCCAGGGATGGTCAGGTCCTTTTGGCTCTGCCTTGGAATGCAAGAAGGACCCACGGTTCCTGAGCAGCTCAAAACCTGCTGCTGGTTATGGTTGGTCTTTCAAGTAAAAGGGTTTACCTCTTCCCGAGGTTAAAAATCATGTTGCTGATCTCAGTGGACTGCTGGCTTTCCCAGTACCTGCCAGGAGGGAGGCACAAGGGTGAATCATGGACTATTGAGGCGCCCTGCAAAGCGTTGCACTGCTGGCTGCAGGCAGCCTCACTTTGGGCAAGTCCCCCCCCATGAGCTGGGGAGACTCAGTCATGGGGAGGGAGGAGAGGGCAAGCCCCCAAGGGCCTCTGAACCTGGCAGGTGCTGCACGGGGCTGGCAGTTGCTTGTGGAGCTGACGTGAGGGCCCGTTCTCAGCAGATGGCAGCTGGCCCTGCAACAGCAGCTGCAGATGTCTTTGAGTCAGTCGTGCGGTGCTCCTGGGGCTTCACCCGACCCAACTTTCCCAGCCCAAGGCACACTGTGACAGATGCCTGGCACTGATGTCCTCACTGGGGTTACGGTGACAGATCAGACCCCTTCCCAGCTCAGGGGCTCTGAGTTATAGAGACGATGATTCAGAATCCATCCCTGAAGTTGTGTCATAAAAATGTCCTGAAGCAATAATTCCGAGAAGGCAGGTGGCAGCTTTTGGCTATGCCATGCAAAGTGCCACACCCAGGAAAGAGCCATGTGGCCTAGCCCATGTGGCCAAACAGCCCCGGTTCCCTCCTGGGACCTCAGCAGCCCAGACTCATGAGCTTGCCTGCCAAGCTGTGCACCAGAGGGCGCTGTTGAAACACACCAGGAGCCCAGGTGACAGACAGGCCATCCTGTTCCCCAGCCAGCCTCCCAAGCACAGCGCTCCAGGACCCAGAAGAGAAACCCTGAAAAGACAGTGTGAGCCCTGCCACAGACCTGTGTGACAGCAGAGCTGTTTGGCTGCTGTATGAGTGTCACCGGCCCTGCATTTTTTTCTTTTTTAATAAAGACAAAGTCTTGCTGTGTTACCCAGGCTGGCCTCCAGTTCCTGGGGGCTCAAGTGATCCTCACACCTCAGCCTCCTGAGTAGTTCAGACTACAGGTACACACCAACACGCCTGGCTAATTTTAAATTTTTTGTAAAGTGGGGGTCTCACTGTGTCACTCAGGCTGGTCTCAAACTCCTGGGCTCAAACAATCCACCCGCCTCGGCCTGCAGAGTAGCTGGGATTACGAGCATGAGCCACGGTGCCCAGCTCAGCCCTGCATATTTGAGGCAGTGAGTACCTTTTAAATTTAAGATCAGTTCATACGTGGCTGCTCTATGTACATTTTTTTCTAGGTGTAATTTACATACCATACAGTTCACCCTTTTGGGGTATATGATACAATCATCTTCAGTGTATCCAAGAGTTGTGCATCTCTCACCACAGTCCATTTTAGAACATTCTCATCGCCCCCAAAAGAAGCCCTGCCCCGATTTGCCATTCCTGGTAATTCATGGATTCTCCCCAGCCCCAGGCAACCACTGATGTACTTTCTGTCCATATAGTTTTACCTGTTCTGGGCGTTTCCTGTCAGTGGAGTCCTACAGCGTGGGATGCTTTGGTGTCAGGCTTTTTTCACGCAATGTAACATGCTGACCCATGA | benign | 297,235 |
Does the genetic variant at chromosome 19, position 11041405, impacting gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | AAAAAAGGGAAATGACCTAAATGCCCAAGAACAAGGGGAGGCTAAATTAGGGCACGTTGTGCACTGAAACACTAAACAGACATTAAAAAATTTTGTTGTAGAAAATTACAGGAAAAGATATCCATGACACAGCCAGCAGTGTGGCACGTGGGCTACAATTCCAGCGTGGCCTTCAGTTCTGCACACGTGCGTCAAAGGTGGGGAGAGTTCTGGTGGTGGGTGGCGCTGAGGGCTGCACAACACTGGGGACGTGCCTAATGCCCCTGAACTGTGTACTAAAACATGGCTGCTTTGGTAAATTTTATGTTATATATGATTTATAATATATTTTTTTAAATGCCCAGCTACTCAGGAGGCTAAGATGGGAAGATCACTTGAGCCCAGGAGTTAAAGTCCAACCAGGGCAATGTAGCAAGACCACATGTCTAAGAAAATTTAAAAATCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGACATGGGTGGATCACGAGGTTAAGAGATTAAGACCATCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACCAAAATTAGCTGGACGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGGAGGAGAATCGCTTGAACCAGGAAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTGCGTCTCAACAACAACAAAAAAGAAAATTTAAAAATAATTTTTCATACAAAAATTAGCCAGGTGTGGTGGCACGTACCTGTAATCCCAGGTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAACCTCGGTGACAAGAGCGAAACTCCGTCTCAAAAATATAAAAATAATTTTTAAAATGTCTTAAAAAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGTTTGAGACCATCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAATCTTAAAAAGAAGAAATAGATGGAGGCCAGGCCCAGTGGCTTATATCTGTAATCCTAGCACTTTGGGAGGCTAAGATGGGAGCACTGCTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAATATTATGAGACCCCGTATCTACAAAAAATTTTTTTAATTAGCTGAGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTTAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCTGGGAGTTCAAGACTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCAACAGGTCGAGACCCTGTCTCTAAAAATAAATAAGTAAATAAAAGAAATAGATGGGGAGAGTGTGGAACAGAGGTGTCAACATCACCTCCGGGTGAAGGGATTTCAGGAGCACGTTCTTTTCTGTACAGAGAAGATAGTTCTTTTTTTTTGGTCAAGAAATTCAACCATTAGTTTTTTAAAGACAAGCTTGGGTGGGGTGCCTGCTGGGGGCAGTGCTGGTCTTTCACTGCAGCCCAGGCACCCCTTGAGAGTCCCAGTGTGTGTTATGCCCCGAGCCAGTCAAGCTGAAGGGAGAGCGGGTGCGGGGGCCCTCCTCCGTGTCCCAGCCCGGCCCCTGGGATTGCGTCGCGGCCTCTGCTTGTCGACCTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCACGCTGGAGGAGATCGAAGAGGAGGTCCGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCACCCCGACCACCAGCACCCGCAGCCGCGACAAGGACGACGAGAGCAAGAAGCAGAAGAAGCGCGGGCGGCCGCCTGCCGAGAAACTCTCCCCTAACCCACCCAACCTCACCAAGAAGATGAAGAAGATTGTGGATGCCGTGATCAAGTACAAGGACAGGTAAGCGAGGAGGCGGGGAGGGCGGGGGCTGTAGGGGTCCCCGTGGGAGCAGGCCTGGCATCTGCACTCTGACTCTGCACACTCAGGCTTGGGCCGCTCACTCTTTCACTCATCCACAAACACTGACTGAATCTCTGTGTCTTTGAGCCTGGCCCTGAGGAACATGCTTTCTGGAACAGGGAAGCACACATGTATCTGCGGTGATGAGAGGGAATGTCACATGTGGTCGAGAGGAGAGGCAGGGGTGCGGGTCTCGGAGAAGGGGACATTGCAGCAGAGCCTTGAGAGAGGGGAGGTTGGGGAGAGTGCACCAGCAGAGGCCACAGCAGGCGGAGAGGCTCTGCCAAAGTTGTGGCCTGGTGGCCTCAAGGGATGAGGTGGGATGAGGGGTTATATGGCAGTAATGGGTGCTGCCCGTGTGGCCAGGAGGTTGGGGACAAGAGGCTGGCATGTCTGGAGCAGAGAAAGTGGCAGCCCTCTCCTGTCCTTGCACCCTCCCAGGCTACCTGTGCCATCTCTGTGTTGGTGAGATGGTGGCCACACTCCTGCTCTCTGCCAGGCCCTGCTCCAAGCCTGGAGATCGCTGTCCTCACAGACATGTCCTATATACGAGGCAGCATGCGGTTCCAGCTGTGGCCACGGCCCAGCGGCGGATCATAACGTGTTGGTGGATCATGAGTGCCATTTATATGTTTTTCATTTACTAATATCCTTTTCCGTGAGCGACTCTATATGGGTACCATTTAAATAAGAAGAAAGGAATGTTCTCAGCAACTCCCCAGGGAGGCATGTGCACCTTCTGCCAGCCCAGGGCAGGTCACAGAGCTGGGCAGGAGCCAGCAAAGGTGTAAGGCCCATGCCTGGCCCAGGACTCACCCAGTCTTCCACTCTCCAAGGTCTTATTTCACTTCCTGGTACACACTGGCCAGTACGGCTGTCCCCGTAATGGGAGGGTTGTACTGTTTGATTTTAAATAACAGTTTGCTGTTAGTCATGAAGCAGAGCGTGGGGGAATTGTATCTGTTGGAGGGGAAAGTGAAGGGAGCCCACATGCATGGTTTGGAGAGAATCTTACCAAGTGTGAAGTTTTAGAGGATGGTAACAATTGGAGTGCCTAAATTAATGAGTCAAAATTACCGCGCAAGGCCAGCTGTGGTGGTCCACACCTGTCAGCCCAGCACTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGACAACATGGTGAAAACCCATCTTTACTGAAAATAGGAAAACAATTACCTGGGCGTGGTGGCACGCTTTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAAGTGGAGGTTGCTGTGGACCAAGATTGCACCACTGCACTCCAGCCTTGGGTGACAGAGCAAGACGCCCACTCCAAAAACAAAATACTGCTTAAAAAGGTTCTTTTAGCCAGATGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCATGGCCAATATGGCGAAACCCCCTCTCTACTAAAACTACAAAAATTCGCCGAGCGTAGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCTTGAAGCTGGGAGGCGGAGGTTGCAGTGACCCAAGATCACATCAGTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAGAGAAAAAAAGAAAGGTTCTTTTATTATTGGAAGAGAAACAGATGATGAAGGAAAGGAGACATATTCAAGTTCAATGCCAGATCTGAAAATGTCATGTGTTGTCAGTATTGAGAAAAAAATATATAGACTCTAATTCACAAACCTAACTCCAAGGCTAA | AAAAAAGGGAAATGACCTAAATGCCCAAGAACAAGGGGAGGCTAAATTAGGGCACGTTGTGCACTGAAACACTAAACAGACATTAAAAAATTTTGTTGTAGAAAATTACAGGAAAAGATATCCATGACACAGCCAGCAGTGTGGCACGTGGGCTACAATTCCAGCGTGGCCTTCAGTTCTGCACACGTGCGTCAAAGGTGGGGAGAGTTCTGGTGGTGGGTGGCGCTGAGGGCTGCACAACACTGGGGACGTGCCTAATGCCCCTGAACTGTGTACTAAAACATGGCTGCTTTGGTAAATTTTATGTTATATATGATTTATAATATATTTTTTTAAATGCCCAGCTACTCAGGAGGCTAAGATGGGAAGATCACTTGAGCCCAGGAGTTAAAGTCCAACCAGGGCAATGTAGCAAGACCACATGTCTAAGAAAATTTAAAAATCGGCTGGGCGCGGTGGCTCACGCCTGTAATCCCAGCACTTTGAGAGGCCGACATGGGTGGATCACGAGGTTAAGAGATTAAGACCATCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACCAAAATTAGCTGGACGTGGTGGTGGGCGCCTGTAGTCCCAGCTACTCAGGAGGGTGAGGGAGGAGAATCGCTTGAACCAGGAAGGTGGAGGTTGCAGTGAGCTGAGATTGCACCACTGCACTCCAGCCTGGTGACAGAGCGAGACTGCGTCTCAACAACAACAAAAAAGAAAATTTAAAAATAATTTTTCATACAAAAATTAGCCAGGTGTGGTGGCACGTACCTGTAATCCCAGGTACTTGGGAGGCTGAAGCAGGAGAATTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCGAGATTGCACCACTGCACTCCAACCTCGGTGACAAGAGCGAAACTCCGTCTCAAAAATATAAAAATAATTTTTAAAATGTCTTAAAAAGGCCGGGTGTGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGGGCAGATCACAAGGTCAAGAGTTTGAGACCATCCTGACCAACATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCTAGGCGTGGTGGTTTGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCAGGAGAGTTGCTTGAACCCAGGAGGCGGAGGTTGCAGTGAGCCAAGATCATGCCACTGCACTCCAGCCTGGTGACAGAGTGAGACTCCGTCTCCAAAAAAAAAAAAAAAAAAATCTTAAAAAGAAGAAATAGATGGAGGCCAGGCCCAGTGGCTTATATCTGTAATCCTAGCACTTTGGGAGGCTAAGATGGGAGCACTGCTTGAGACCAGGAGTTCAAGACCAGCCTGGGCAATATTATGAGACCCCGTATCTACAAAAAATTTTTTTAATTAGCTGAGTGTGGTGACACGTGCCTGTAGTCCCAGCTACTTAGGAGGCTGAGGTGGGAGGATCTCTTGAGCCCTGGGAGTTCAAGACTGCAGTGAGCTATGATGGTGCCACTGCACTCCAGCCTGGGCAACAGGTCGAGACCCTGTCTCTAAAAATAAATAAGTAAATAAAAGAAATAGATGGGGAGAGTGTGGAACAGAGGTGTCAACATCACCTCCGGGTGAAGGGATTTCAGGAGCACGTTCTTTTCTGTACAGAGAAGATAGTTCTTTTTTTTTGGTCAAGAAATTCAACCATTAGTTTTTTAAAGACAAGCTTGGGTGGGGTGCCTGCTGGGGGCAGTGCTGGTCTTTCACTGCAGCCCAGGCACCCCTTGAGAGTCCCAGTGTGTGTTATGCCCCGAGCCAGTCAAGCTGAAGGGAGAGCGGGTGCGGGGGCCCTCCTCCGTGTCCCAGCCCGGCCCCTGGGATTGCGTCGCGGCCTCTGCTTGTCGACCTGGGTGCTGGCTGTCCTATTTTACTACTATTGACCCTGAAGGCCATCGAGGAGGGCACGCTGGAGGAGATCGAAGAGGAGGTCCGGCAGAAGAAATCATCACGGAAGCGCAAGCGAGACAGCGACGCCGGCTCCTCCACCCCACCAGCACCCGCAGCCGCGACAAGGACGACGAGAGCAAGAAGCAGAAGAAGCGCGGGCGGCCGCCTGCCGAGAAACTCTCCCCTAACCCACCCAACCTCACCAAGAAGATGAAGAAGATTGTGGATGCCGTGATCAAGTACAAGGACAGGTAAGCGAGGAGGCGGGGAGGGCGGGGGCTGTAGGGGTCCCCGTGGGAGCAGGCCTGGCATCTGCACTCTGACTCTGCACACTCAGGCTTGGGCCGCTCACTCTTTCACTCATCCACAAACACTGACTGAATCTCTGTGTCTTTGAGCCTGGCCCTGAGGAACATGCTTTCTGGAACAGGGAAGCACACATGTATCTGCGGTGATGAGAGGGAATGTCACATGTGGTCGAGAGGAGAGGCAGGGGTGCGGGTCTCGGAGAAGGGGACATTGCAGCAGAGCCTTGAGAGAGGGGAGGTTGGGGAGAGTGCACCAGCAGAGGCCACAGCAGGCGGAGAGGCTCTGCCAAAGTTGTGGCCTGGTGGCCTCAAGGGATGAGGTGGGATGAGGGGTTATATGGCAGTAATGGGTGCTGCCCGTGTGGCCAGGAGGTTGGGGACAAGAGGCTGGCATGTCTGGAGCAGAGAAAGTGGCAGCCCTCTCCTGTCCTTGCACCCTCCCAGGCTACCTGTGCCATCTCTGTGTTGGTGAGATGGTGGCCACACTCCTGCTCTCTGCCAGGCCCTGCTCCAAGCCTGGAGATCGCTGTCCTCACAGACATGTCCTATATACGAGGCAGCATGCGGTTCCAGCTGTGGCCACGGCCCAGCGGCGGATCATAACGTGTTGGTGGATCATGAGTGCCATTTATATGTTTTTCATTTACTAATATCCTTTTCCGTGAGCGACTCTATATGGGTACCATTTAAATAAGAAGAAAGGAATGTTCTCAGCAACTCCCCAGGGAGGCATGTGCACCTTCTGCCAGCCCAGGGCAGGTCACAGAGCTGGGCAGGAGCCAGCAAAGGTGTAAGGCCCATGCCTGGCCCAGGACTCACCCAGTCTTCCACTCTCCAAGGTCTTATTTCACTTCCTGGTACACACTGGCCAGTACGGCTGTCCCCGTAATGGGAGGGTTGTACTGTTTGATTTTAAATAACAGTTTGCTGTTAGTCATGAAGCAGAGCGTGGGGGAATTGTATCTGTTGGAGGGGAAAGTGAAGGGAGCCCACATGCATGGTTTGGAGAGAATCTTACCAAGTGTGAAGTTTTAGAGGATGGTAACAATTGGAGTGCCTAAATTAATGAGTCAAAATTACCGCGCAAGGCCAGCTGTGGTGGTCCACACCTGTCAGCCCAGCACTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGGTCAGGAGTTTGAGACCAGCATGGACAACATGGTGAAAACCCATCTTTACTGAAAATAGGAAAACAATTACCTGGGCGTGGTGGCACGCTTTTTGGGAGGCTGAGACAGGAGAATCACTTGAACCCAGGAAGTGGAGGTTGCTGTGGACCAAGATTGCACCACTGCACTCCAGCCTTGGGTGACAGAGCAAGACGCCCACTCCAAAAACAAAATACTGCTTAAAAAGGTTCTTTTAGCCAGATGCGGTGGCTCATGCCTGTAATCCCAGCACTTTAGGAGGCCAAGGCGGGCGGATCACTTGAGGTCAGGAGTTTGAAACCAGCATGGCCAATATGGCGAAACCCCCTCTCTACTAAAACTACAAAAATTCGCCGAGCGTAGTGGTGCATGCCTGTAATCCCAGCTACTCGGGAGGCTGAGGTAGGAGAATCTTGAAGCTGGGAGGCGGAGGTTGCAGTGACCCAAGATCACATCAGTGCACTCCAGCCTGGGGGACAGAGTGAGACTCCGTCTCAAAAAGAGAAAAAAAGAAAGGTTCTTTTATTATTGGAAGAGAAACAGATGATGAAGGAAAGGAGACATATTCAAGTTCAATGCCAGATCTGAAAATGTCATGTGTTGTCAGTATTGAGAAAAAAATATATAGACTCTAATTCACAAACCTAACTCCAAGGCTAANNNN | pathogenic | 297,326 |
For chromosome 19, position 11059783, gene SMARCA4 (SWI/SNF related BAF chromatin remodeling complex subunit ATPase 4): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | pathogenic; ['Hereditary_cancer-predisposing_syndrome', 'Rhabdoid_tumor_predisposition_syndrome_2'] | ACAAAAAACAAAAAAATGTATCACAGGCCTGTTTGTGTGGTTGTCTCTGGGAAATGTTCCAGAAGCTACAAGAAAGCACATGTGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCTGAGGCGGGCTGATCACCTGAGGTCGGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCTGGCATGGTGGTGCACGACTGTAAAAAATCCCAGTGACTCCAAAGGCTGAGGCAGGAGAATCTCCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGCGCATGTGCAAGAAATAGCTCCTGAGCTGAGTTGGAATTTCTCATCCTTAAACAATGTGGGAACCTGCTGAGGTGGGGTGGGGGCTCCCGGGTGGGCGGACTCGGGGGTGATAGCCGCCGGTTCTGCCTTGCAGCAGCAGTGGACGTCAGCTCAGCGAGGTCTTCATCCAGCTGCCCTCGCGAAAGGAGCTGCCCGAGTACTACGAGCTCATCCGCAAGCCCGTGGACTTCAAGAAGATAAAGGTAACCCTGACGTTGTACCTGCGCCCCGCATGTGCCCGGAGGGGAGTCTGACCCAGGGGCACCCCCATCTGAGAGCTGTGGTGTGTGGGCAGAATGACCAGAAACCACCTAGGCGGTGCCTTGGGCTACCTGGTTAGGGACCTGGTCGTGGGCTTTTGGGGTTCCTTGTAAGGGTTGGGGGTGTCCTGAGGGATGTCAGTGGGCAGTCGGTGTTGGGTGTTCCTTCAAGGTCCCACTCACTTAGTGCTGGGCCTCAGTCATGCAGTTCCCATGCCTAGTGAGCCAGGTTACCGAGGCTGGCGCTTCGGCCACATCCTCATAGGCACGAGGAATCCTAGCCCGTGGGGTCTCCAGCACACAGCCAGGCCTGCGGGCAGGCGAGGCGGGGTCCTGAGGTAAGACCTGCTCCTCCCGTCCACTGCAGGAGCGCATTCGCAACCACAAGTACCGCAGCCTCAACGACCTAGAGAAGGACGTCATGCTCCTGTGCCAGAACGCACAGACCTTCAACCTGGAGGGCTCCCTGGTGAGGGCACCGCTGGGGGTTGGGGATGGGCCACTCCCACAGCTGGGCTTTGACCCAACCCGCCCCTCCTTCCCTTCTGAATTGATGGGTTAAAAACAAGTCCCGCTAGCTGTGGTGGTTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGACCAGGAGTTCACGACCAGCCTGGGCAACATAACAAGACCCTGTCTTTAAAAAAAAAAAAGAAAAAATTAAAAATTTCCAACTTGGGATATTTTAGCAATTACAAAAGCAGTATGTATTTACCGAAGAAAATAAAGATAGGCACAACAGAAGAAATAGACTCAGAGTCCTCTGTCTGTTGGAATTTTATTTTAAATTCCCTGGGGCACATTCTCTTCAAAGGAATCCTGTGGGTTTGTTCTTTCCTGTGATAGAATTGACACATACACAGCCTCAACTTGGCAAACTTTCTTAAGTGTCTTTGGGATTGATTCCTCTCAGAAAAAAGACTTGACTTTGATGAGTTTGGGAAAGATGCTGGCTTCAACAAGGGGCATGTATTTCCAATGTTATTGCAGACCTCAGAGATTGTGCAGAAGGAGGGAGGCACCTGCAGCTATTCCCAAACCAGTGTGCCTGACCTTTCACCCTGGAGCATTTCAGAAGTCTGATGCTCGGGCCCCTATGGAGGAAGATTATGGAGAGGGCCTTCCACCCTGGGTGGGCTGAAGCCCCGACCCGCTGAGGCTCGCATTGGCCACTGATCAGCTGTCCAGGGGCAACACAGGGCTGGGGCTGGGGCTGGGGCCAGGGCCGGGCAGGCAGCCCTCCAGTCGGGCCCATCCACTCAAGCCCCTGGTGTCTCTGCCCAGATCTATGAAGACTCCATCGTCTTGCAGTCGGTCTTCACCAGCGTGCGGCAGAAAATCGAGAAGGAGGATGACAGTGAAGGCGAGGAGAGTGAGGAGGAGGAAGAGGGCGAGGAGGAAGGCTCCGAATCCGAATGTGAGTCCCGGGGGGGTTCAGGACGCCGGGGTTCACGCTGGCCCGAGAGCCCCCAAGGCCCCAGCTTTTCACAGCCCTCCCGGCTCCCAGACGCCCCTTGCTGTGGGGGTGCTGCATTCCCAGAGCTCAAGGCTGTCTTTCCCTCCCGGTCCCCTCCAGCTCGGTCCGTCAAAGTGAAGATCAAGCTTGGCCGGAAGGAGAAGGCACAGGACCGGCTGAAGGGCGGCCGGCGGCGGCCGAGCCGAGGGTCCCGAGCCAAGCCGGTCGTGAGTGACGATGACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGGCCCCCGAGCAGGCAGAGCTGGCATGTGGCAGGAGGCATCCCGGGGCCCTGATGGGACAGCCCTGTGGGGCGGTGCTCCCACGCCCCCACGCTGCAGGTGGGAAAGCTGAGGCTTGACCTGCCATGGCTGACCCCAGGTCACACAGCCAGTATGTGGCAGGGCTGCCACTCAAAGCCAAGCCTGTGTGACCCCGGAACCAGCTCTCAGTACCCGTGGGTGTCTGGGGACTGGGGGACACGTGAGTCCTCAGGACAGGCAGCAGGCGGTCCCAGGGCACCAGGGCTCCTGGGCTGAGGCCGGGCAGGCCAGGGCTTGATTAGGGTTGGGTAGGAGGTGCTAGGATTGGGGACCCACCAGACAGTGCCCCGTCTCCTCAGTGGCATAGAGAATGGGCAGAAACGCCAAGACCACAGTGGATAGTTTTTGGGGTGCAGTGGGGAGCCGGAGAAGATCCACTTGCTGGCTTTAAATAATCTCACCTCTGTCTCTGGCCCTTCCTGGCTGTGGGACCTGGCAGGTCACTTTGCTTCTCAAGCTTCAGTTTCCTCTTATGCAAAGCAAGGAGGCTGCATGGATTAGGGGGCTGCCCCCACCGAAGGGCCTGGCTCCCGCTGAAGCCCAGCGAATGCCATTTTGTCATCACAGAAGCAGCAAATTTCAGTGCCTGGGAATTAGTCTGACGAAAGACGCACGTGACGTTTGAGGACATTCATGAAGTCCTCATGTGGAGGGGAGGCCCCTGTGTCAGGCAGGAGGGTCTGGGCTGTGATGCTGTCTCTCTTGCCTAATCCAGAGCAGGGTGTTTTATGGCCCATGCCAGGCTGTTTAAAAAGGTTTTATGAGGCCAGGTCCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAACTGAGGCAGGAGGCTCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGTGATAGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTTTAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATGAAAGAGCAAAGATCTTTCACAGTCAGGAAGAACCAAGATGGTTTGGAAGCTGTAGGTCAGGGGCCAAGGGCCAGGCAGGTGACATGGGACAGAGCAGGGAAGGCACGTGGAGCCTCGAAGGTCCCGAGAGGGCCGAGTGTGGTCACAGGGACTCGTCCTGTAGAGAAACATGAAGTTTGGGCATGGCCATGGCGCCATCTCGGCTCACTGCAAGCTCCACCCCCCGGGATCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCGGCCCACATCAGTGTTTTCTTGAGCAAGTTTATTTAAAGTTTGGCAGGTCCCTGGCAAGGTGCCCTGGCAGGGGTGGCCAACGCACACTCTCTCCTCCTGTCCCCTCTCCAGGACCGCTCAGGAAGTGGCAGCGAAGAAGACTGAGCCCCGACATTCCA | ACAAAAAACAAAAAAATGTATCACAGGCCTGTTTGTGTGGTTGTCTCTGGGAAATGTTCCAGAAGCTACAAGAAAGCACATGTGCAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGATGCTGAGGCGGGCTGATCACCTGAGGTCGGGAGTTTGAGACCAGTCTGACCAACATGGAGAAACCCTGTCTCTACTAAAAATACAAAATTAGCCTGGCATGGTGGTGCACGACTGTAAAAAATCCCAGTGACTCCAAAGGCTGAGGCAGGAGAATCTCCTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCGAGATCGCACCATTGCACTCCAGCCTGGGCAGCAAGAGCGAAACTCCGTCTCAAAAAAAAAAAAAGCGCATGTGCAAGAAATAGCTCCTGAGCTGAGTTGGAATTTCTCATCCTTAAACAATGTGGGAACCTGCTGAGGTGGGGTGGGGGCTCCCGGGTGGGCGGACTCGGGGGTGATAGCCGCCGGTTCTGCCTTGCAGCAGCAGTGGACGTCAGCTCAGCGAGGTCTTCATCCAGCTGCCCTCGCGAAAGGAGCTGCCCGAGTACTACGAGCTCATCCGCAAGCCCGTGGACTTCAAGAAGATAAAGGTAACCCTGACGTTGTACCTGCGCCCCGCATGTGCCCGGAGGGGAGTCTGACCCAGGGGCACCCCCATCTGAGAGCTGTGGTGTGTGGGCAGAATGACCAGAAACCACCTAGGCGGTGCCTTGGGCTACCTGGTTAGGGACCTGGTCGTGGGCTTTTGGGGTTCCTTGTAAGGGTTGGGGGTGTCCTGAGGGATGTCAGTGGGCAGTCGGTGTTGGGTGTTCCTTCAAGGTCCCACTCACTTAGTGCTGGGCCTCAGTCATGCAGTTCCCATGCCTAGTGAGCCAGGTTACCGAGGCTGGCGCTTCGGCCACATCCTCATAGGCACGAGGAATCCTAGCCCGTGGGGTCTCCAGCACACAGCCAGGCCTGCGGGCAGGCGAGGCGGGGTCCTGAGGTAAGACCTGCTCCTCCCGTCCACTGCAGGAGCGCATTCGCAACCACAAGTACCGCAGCCTCAACGACCTAGAGAAGGACGTCATGCTCCTGTGCCAGAACGCACAGACCTTCAACCTGGAGGGCTCCCTGGTGAGGGCACCGCTGGGGGTTGGGGATGGGCCACTCCCACAGCTGGGCTTTGACCCAACCCGCCCCTCCTTCCCTTCTGAATTGATGGGTTAAAAACAAGTCCCGCTAGCTGTGGTGGTTCGTGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGAGGATCACTTGAGACCAGGAGTTCACGACCAGCCTGGGCAACATAACAAGACCCTGTCTTTAAAAAAAAAAAAGAAAAAATTAAAAATTTCCAACTTGGGATATTTTAGCAATTACAAAAGCAGTATGTATTTACCGAAGAAAATAAAGATAGGCACAACAGAAGAAATAGACTCAGAGTCCTCTGTCTGTTGGAATTTTATTTTAAATTCCCTGGGGCACATTCTCTTCAAAGGAATCCTGTGGGTTTGTTCTTTCCTGTGATAGAATTGACACATACACAGCCTCAACTTGGCAAACTTTCTTAAGTGTCTTTGGGATTGATTCCTCTCAGAAAAAAGACTTGACTTTGATGAGTTTGGGAAAGATGCTGGCTTCAACAAGGGGCATGTATTTCCAATGTTATTGCAGACCTCAGAGATTGTGCAGAAGGAGGGAGGCACCTGCAGCTATTCCCAAACCAGTGTGCCTGACCTTTCACCCTGGAGCATTTCAGAAGTCTGATGCTCGGGCCCCTATGGAGGAAGATTATGGAGAGGGCCTTCCACCCTGGGTGGGCTGAAGCCCCGACCCGCTGAGGCTCGCATTGGCCACTGATCAGCTGTCCAGGGGCAACACAGGGCTGGGGCTGGGGCTGGGGCCAGGGCCGGGCAGGCAGCCCTCCAGTCGGGCCCATCCACTCAAGCCCCTGGTGTCTCTGCCCAGATCTATGAAGACTCCATCGTCTTGCAGTCGGCTTCACCAGCGTGCGGCAGAAAATCGAGAAGGAGGATGACAGTGAAGGCGAGGAGAGTGAGGAGGAGGAAGAGGGCGAGGAGGAAGGCTCCGAATCCGAATGTGAGTCCCGGGGGGGTTCAGGACGCCGGGGTTCACGCTGGCCCGAGAGCCCCCAAGGCCCCAGCTTTTCACAGCCCTCCCGGCTCCCAGACGCCCCTTGCTGTGGGGGTGCTGCATTCCCAGAGCTCAAGGCTGTCTTTCCCTCCCGGTCCCCTCCAGCTCGGTCCGTCAAAGTGAAGATCAAGCTTGGCCGGAAGGAGAAGGCACAGGACCGGCTGAAGGGCGGCCGGCGGCGGCCGAGCCGAGGGTCCCGAGCCAAGCCGGTCGTGAGTGACGATGACAGTGAGGAGGAACAAGAGGAGGTGAGGCCGGGCCCCCGAGCAGGCAGAGCTGGCATGTGGCAGGAGGCATCCCGGGGCCCTGATGGGACAGCCCTGTGGGGCGGTGCTCCCACGCCCCCACGCTGCAGGTGGGAAAGCTGAGGCTTGACCTGCCATGGCTGACCCCAGGTCACACAGCCAGTATGTGGCAGGGCTGCCACTCAAAGCCAAGCCTGTGTGACCCCGGAACCAGCTCTCAGTACCCGTGGGTGTCTGGGGACTGGGGGACACGTGAGTCCTCAGGACAGGCAGCAGGCGGTCCCAGGGCACCAGGGCTCCTGGGCTGAGGCCGGGCAGGCCAGGGCTTGATTAGGGTTGGGTAGGAGGTGCTAGGATTGGGGACCCACCAGACAGTGCCCCGTCTCCTCAGTGGCATAGAGAATGGGCAGAAACGCCAAGACCACAGTGGATAGTTTTTGGGGTGCAGTGGGGAGCCGGAGAAGATCCACTTGCTGGCTTTAAATAATCTCACCTCTGTCTCTGGCCCTTCCTGGCTGTGGGACCTGGCAGGTCACTTTGCTTCTCAAGCTTCAGTTTCCTCTTATGCAAAGCAAGGAGGCTGCATGGATTAGGGGGCTGCCCCCACCGAAGGGCCTGGCTCCCGCTGAAGCCCAGCGAATGCCATTTTGTCATCACAGAAGCAGCAAATTTCAGTGCCTGGGAATTAGTCTGACGAAAGACGCACGTGACGTTTGAGGACATTCATGAAGTCCTCATGTGGAGGGGAGGCCCCTGTGTCAGGCAGGAGGGTCTGGGCTGTGATGCTGTCTCTCTTGCCTAATCCAGAGCAGGGTGTTTTATGGCCCATGCCAGGCTGTTTAAAAAGGTTTTATGAGGCCAGGTCCAGTGGCTCACACCTGTAATCCCAGCACTTTGGGAAACTGAGGCAGGAGGCTCACTTGAGCCTGGGAGGTCGAGGCTGCAGTGAGCCGTGATAGCACCACTGCACTCCAGCCTGGGCAACAGAGCAAGACCCTGTCTTTAAAAAAAAAAAAAAAAATATATATATATATATATATATATATATATATATATATGAAAGAGCAAAGATCTTTCACAGTCAGGAAGAACCAAGATGGTTTGGAAGCTGTAGGTCAGGGGCCAAGGGCCAGGCAGGTGACATGGGACAGAGCAGGGAAGGCACGTGGAGCCTCGAAGGTCCCGAGAGGGCCGAGTGTGGTCACAGGGACTCGTCCTGTAGAGAAACATGAAGTTTGGGCATGGCCATGGCGCCATCTCGGCTCACTGCAAGCTCCACCCCCCGGGATCGCGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGCGCCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTAGTAGAGACGGGGTTTCACCGTGTTAGCCAGGATGGTCTCGATCTCCTGACCTCGTGATCCGCCCGCCTTGGCCTTCCAAAGTGCTGGGATTACGGGCGTGAGCCACCGTGCCCGGCCCACATCAGTGTTTTCTTGAGCAAGTTTATTTAAAGTTTGGCAGGTCCCTGGCAAGGTGCCCTGGCAGGGGTGGCCAACGCACACTCTCTCCTCCTGTCCCCTCTCCAGGACCGCTCAGGAAGTGGCAGCGAAGAAGACTGAGCCCCGACATTCCAN | pathogenic | 297,415 |
Does the variant on chromosome 19 at location 11089550 affecting gene LDLR have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGT | ATTTATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTN | pathogenic | 297,484 |
The chromosome 19, position 11089554 genetic variant in gene LDLR: benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTATCT | ATAAACGTTGCAGCAGCTCCTAGAACTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTATCTN | pathogenic | 297,487 |
A genetic alteration at chromosome 19, position 11089579, in gene LDLR—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTATCTCACTCACCAATCAACCTCTTCCTTA | CTTGCCTATCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTATCTCACTCACCAATCAACCTCTTC | pathogenic | 297,494 |
Gene LDLR variant at chromosome position 11089587 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTATCTCACTCACCAATCAACCTCTTCCTTAAGAGAAAA | TCCTTGTAAACTTCTCTAGGTGATTGCTAATTACTTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCACTCTGTCGCCCAGGCTGGAGTACAGTGGCGCAATCTCGTCTCACTGCAAACTCCACCTCCCGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCGGCTAATTTTTTGTATTTTTTTTTAGTAGAGGTGGGGTTTCACTGTGTTATCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCTGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCATGCCCAGCCCGCTAATTATTTCAATTTGACCTTGACACTGAGCCTGCCAAGTAGGTTCAAGCATTTTGATGGCCCCTTTACAGGTTGGGAAAGCTAATTTATCTGTCCAAGGCCGAATTCTGAAACTGAGTCTTAACTGCCAAAAATTCTTATCATCAATTTCTTCTTCTGGGTTGGGCACAGTGGCTCATGCCTGTAAAGCCAGCAATTTGAGAGGCATCATGATGCAAGAGGAAGAGGATTGAGTGAAGCTAGGAGTTTGGGACCAGCCTGGGCAACATAGTGAGACCCCATCTATAAAAAAAAATTAAAAATTAGTTGGGCATGGTGGTGCACTCCTGTGGTCCTAGCTATTCAGGAGGCTGAGGTGGGAGGATTCCTTGAGCCCAGGGTTGACGCTGCAGAGAGCTGTGATCACGCCACTGCAGTCCAGCCTGAGTGACAGCTGGAAATAATGATAAATAAATAATAAATAATTATTTAAAAAATTATAATAAAAATAATTAAAAAATTATTTTCCCTGATTAATCTTTTTTTTTGTCCTTCTGAGAGTTCAATTTGTCCCTTTTCTGCCTGGTCTCCTAGGTTTCCCTAAAATCCTGCTGAGAGGTTAGCACTGCCTGCCAAAGTCAGTTTGCAAAATCCCAGAGAAATCCAGCTTATTCCTGGGGGAACCGCCAAGACTGCCCAGCCCTGTGTGGGGTTCAGGCAAGTTTCTCACATGTGCCTTTTTGGCAAGAGGCCTCTGGCAACCCCATGAGTCCCCAAAGAGACTCAATTCTAAAAGTTGGTCTCCACCAGCTCTCTGTGGCTTAGGGGTTCAAGTTCAACTGTGAAAGCCCTGTTTTGTTTTGATTTTGCTTTGAGGGAGAGGAAACCGCCCTTCTGTTTGTTCAACTCCTTCTCCTAAGGGGAGAAATCAATATTTACGTCCAGACTCCAGGTATCCGTACAATTGATTTTTCAGATGTTTATACTCAGCCAAAGGCGGGATCCCACAAAACAAAAAATATTTTTTTGGCTGTACTTTTGTGAAGATTTTATTTAAATTCCTGATTGATCAGTGTCTATTAGGTGATTTGGAATAACAATGTAAAAACAATATACAACGAAAGGAAGCTAAAAATCTATACACAATTCCTAGAAAGGAAAAGGCAAATATAGAAAGTGGCGGAAGTTCCCAACATTTTTAGTGTTTTCCTTTTGAGGCAGAGAGGACAATGGCATTAGGCTATTGGAGGATCTTGAAAGGCTGTTGTTATCCTTCTGTGGACAACAACAGCAAAATGTTAACAGTTAAACATCGAGAAATTTCAGGAGGATCTTTCAGAAGATGCGTTTCCAATTTTGAGGGGGCGTCAGCTCTTCACCGGAGACCCAAATACAACAAATCAAGTCGCCTGCCCTGGCGACACTTTCGAAGGACTGGAGTGGGAATCAGAGCTTCACGGGTTAAAAAGCCGATGTCACATCGGCCGTTCGAAACTCCTCCTCTTGCAGTGAGGTGAAGACATTTGAAAATCACCCCACTGCAAACTCCTCCCCCTGCTAGAAACCTCACATTGAAATGCTGTAAATGACGTGGGCCCCGAGTGCAATCGCGGGAAGCCAGGGTTTCCAGCTAGGACACAGCAGGTCGTGATCCGGGTCGGGACACTGCCTGGCAGAGGCTGCGAGCATGGGGCCCTGGGGCTGGAAATTGCGCTGGACCGTCGCCTTTGCTCCTCGCCGCGGCGGGGACTGCAGGTAAGGCTTGCTCCAGGCGCCAGAATAGGTTGAGAGGGAGCCCCCGGGGGGCCCTTGGGAATTTATTTTTTTGGGTACAAATAATCACTCCATCCCTGGGAGACTTGTGGGGTAATGGCACGGGGTCCTTCCCAAACGGCTGGAGGGGGCGCTGGAGGGGGGCGCTGAGGGGAGCGCGAGGGTCGGGAGGAGTCTGAGGGATTTAAGGGAAACGGGGCACCGCTGTCCCCCAAGTCTCCACAGGGTGAGGGACCGCATCTTCTTTGAGACGGAGTCTAGCTCTGTCGCCCAGGATGGAGTGCAGTGGCACGATCTCAGCTCACTGCAACCTCCGCCTCCCGGGTTTAAGCGAGTCTCCTCTCTCAGCCTCCCGAATAGCTGGGATTACAGGCGCCCAACCACCACGCCCGCCTAATTTTTGTATTTTTAGTAGAGACGGGTTTTCACCATTTTGGCCAGGCTGGTCTCGAACCCCGACCTCAGGTGATCTGCCCAAAAGTGCTGGGATTACAGGCGTCAGCCACCGCGCCCGGCCGGGACCCTCTCTTCTAACTCGGAGCTGGGTGTGGGGACCTCCAGTCCTAAAACAAGGGATCACTCCCACCCCCGCCTTAAGTCCTTCTGGGGGCGAGGGCGACTGGAGACCCGGATGTCCAGCCTGGAGGTCACCGCGGGCTCAGGGGTCCCGATCCGCTTTGCGCGACCCCAGGGCGCCACTGCCATCCTGAGTTGGGTGCAGTCCCGGGATTCCGCCGCGTGCTCCGGGACGGGGGCCACCCCCTCCCGCCCCTGCCCCCGCCCCTTTGGCCCGCCCCCCGAATTCCATTGGGTGTAGTCCAACAGGCCACCCTCGAGCCACTCCCCTTGTCCAATGTGAGGCGGTGGAGGCGGAGGCGGGCGTCGGGAGGACGGGGCTTGTGTACGAGCGGGGCGGGGCTGGCGCGGAAGTCTGAGCCTCACCTTGTCCGGGGCGAGGCGGATGCAGGGGAGGCCTGGCGTTCCTCCGCGGTTCCTGTCACAAAGGCGACGACAAGTCCCGGGTCCCCGGAGCCGCCTCCGCGACATACACGAGTCGCCCTCCGTTATCCTGGGCCCTCCTGGCGAAGTCCCCGGTTTCCGCTGTGCTCTGTGGCGACACCTCCGTCCCCACCTTGTCCTGGGGGGCGCCCTCGCCCCACCAGCCCCGATCAAGTTCACAGAGGGGCCCCCGGCCACCCTCAAGGCCTCGGTTCCTTACGAGGTTGAAACGTTGCCTCAGAATCTCCCCGCCCCTCCTTGGTCTGCAGCCGAGATCTTCAGCCACGGTGGGGCAGCTATCCCCCGGGACCGACCCCCTGGGGTGGCCTCGCTTCTTCAGAGGCTGTGAATGGCTTCGGTTCAGCTGTCCAAGCGGCGATTTTTCCTCTGGGTGAAATGGATTAGATTTTAGATTTCCACAAGAGGCTGGTTAGTGCATGATCCTGAGTTAGAGCTTTTTAGGTGGCTTTAAATTAGTTGCAGAGAGACAGCCTCGCCCTAGACAACAGCTACATGGCCCTTTCCCTCCTGAGAACCAGCCTAGCCTAGAAAAGGATTGGGATTGCCTGATGAACACAAGGATTGCAGGAAACTTTTTTTTTAATTGGCAAGGGGGTTGGCTTTGACTGGATGGAGAGCTTTGAACTGCCTTGAAATTCACGCTGTAACTAACACACCAGTTTCCTCTGGGAGGCCAGAGAGGGAGGGAGGGTGTAATGAAATACGGATGATTGTTCTTTTATTTTTATTTACTTATTTATTTTTTAACTTTTTGTAGAGATGAGGTCTCGCTTGGTTGCTCAGGCTGGTCTTGAACTCCTGGCCTCAAGCGATCCTCCTACCTCAGCCTCCCAAAGTGTTGGGATTACAGGAGTGAGCCACCGCGCCCCACCGGGGATGATGATGATTGCAAACATTCTGCCACTCAGTTTTACAAAAGAAAGAGAGGCACTGGATTAATGTGTATCTCACTCACCAATCAACCTCTTCCTTAAGAGAAA | pathogenic | 297,495 |
Is the chromosome 19, position 11100230 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTT | GTTGCAGTGAGCCAAGATTGCACCACTGCACTCCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTNN | pathogenic | 297,516 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11100262: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGT | CCAGCCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGAGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTN | pathogenic | 297,529 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11100266—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGT | CCTGGGTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGG | pathogenic | 297,531 |
Does the variant on chromosome 19 at location 11100271 affecting gene LDLR (low density lipoprotein receptor) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTT | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATAAATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTT | pathogenic | 297,532 |
Is the chromosome 19, position 11100271 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTT | GTGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTN | pathogenic | 297,533 |
Variant at chromosome position 11100272, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTT | TGACAGAGTGAGACTCTGTCTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCTCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTN | pathogenic | 297,534 |
Is the variant located on chromosome 19 at position 11100291, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACG | CTGAAAATAATAATAATAATAATTTGTTATTGCTTTTATTGCCTTAGTTTACATAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGNNNNNN | pathogenic | 297,540 |
Classify the chromosome 19 variant at position 11100344 affecting gene LDLR (low density lipoprotein receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACC | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCA | pathogenic | 297,555 |
Is the genetic variant on chromosome 19, position 11100344, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, what disease(s) is indicated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACC | TAGGGAATCAAAGTTTATACTTTGATTTATAAAAGTTGCTTTGATTCTAGTTCACAGAACCAGAATCTTTCATATAAAGGTATTAGAGGGCCCAGTGTGGTGGCTCATGCCTGTAATCCCAGCATATTGGGAGGCTGAGGAGGGAGGATCACTTTAGGAGTTTGAGGCCAGCCTAGGCAACATAGTGAGACCTTGTCTCTACAAAAAATTCCAACATTAGCTGGGCATGGTGGCATGTGCCTGTAGTCCCATTTATTTGGGGGGCTGAGGCAGGAGGATCACTTGAGCCCACGAGGTTCAATCCAGGTTGCAGTAAGCCATGATCCTGCCACTGCACTCCAGTTTGGGTAACAGAGCGAAGCTATGTCTCAAAAAAAGAAAAAAAAAGTATTCTAAATCCAAATTTAATATATAAAACTAAATGCAGGCCAAGTGTGGTGGCATATACCTATAATCACAACACTTTGGGAGGCTGAGGTGGGAGGATTGCTTGAGCCCAAGAGTTCAAGACCAGCCTAGGTAACACAGTAAGACCCCATCTCTACAAAAAGTAGAAAAATTAGCCTGGCATGGTGGTGAGTGCTTTTAATCCCAACTACTTAGGGGGCTGAGATGGGAAGATTGCTTGAGCCTCAGAGTTTGAGGCTGCAGTGGGCCGTGATCGCTCCACTGATCGCTCTAAAGTGAGACCCTGTCTCAAAAAAAAAGAAAATAGAAGAAAACTAAATACATTCAATAAGACTTTGATCTCTTTTCCAAGGTGTAAATATATTTTGGGAAATTTTCCAGTTACTTTGTTCTCATTTTAATGTAATAATCTAAGTCTTGGTTTTCTAAGGAAAAGTTTTCTCTTATTATATCTTTTGTTAATGTTTCTCTCCCATTTCTTTTGATCTGATCTTCAGATACATGATTATCTTCACTGCTAAATTTGTGTTCTCTGGCCTCTACATTTATAATTTCTCATAATTCTTTATCTAAGTATTTCTTCCCTACCTACTGAAGAAAACTCAAGTTTTCTTCCACCTTAATGATTATGCTGTGTCTGTGAGTTTTCTTCATGACTCTTTACAGTACAAGTTTTTTGTTTTTGTTTTTTTAATGGTCAGATGGATAGAACAACACAGGTTTTGTTTGTTTTGTTTTAACTTTTAAAAAAATTATAATAGATAAAGGGTCTCACTACGTTGTCCAGGCTGATCTCATACTCCTGGGCTCAAGCAATCCACCCACCTCTGCCTCCCAAAGTGCTGGGATTACAGTCATGAGCCAACATGCCTGGGCAGTACAGGTTTTTTTTGAGACGGAGTTTTGTTCTTGTTGCCGAGGCTGGAGTGCAATGGCACAATCTTGGCTCACCACAAAGTCTGCCTCCCAGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGCATGTGCCACCACGCCCAGCTAATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAGGCTGGTTTCGAACTGCTGACCTCAGGTGATCTGCCCACCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCATGCCCAGCTGTAGTACAGGTTTTAATATGCTAAATACTCTTCCTTTCTTTATTAATGTGCATGGAAGTTCTAATATTTTTTTCCCATACCCCAGAGAGTCCATATTTTGGAATCAACAACACTAGCCTTTGTTGACAAGTGTCTCTCTTGGGTTCCTTCTTTGTGTCCTCCACTGAATTTTGGGGTTCATAAAATTTCATTTGTTGTGCTTGCTTAATTCCCTGGGAATCAGACTGTTCCTGATCGGATGACATTTCTGGTTAATTCTTTAGTTGGCAGGAAATAGACACAGGAAACGTGGTCAGTTTCTGATTCTGGCGTTGAGAGACCCTTTCTCCTTTTCCTCTCTCTCAGTGGGCGACAGATGCGAAAGAAACGAGTTCCAGTGCCAAGACGGGAAATGCATCTCCTACAAGTGGGTCTGCGATGGCAGCGCTGAGTGCCAGGATGGCTCTGATGAGTCCCAGGAGACGTGCTGAGTCCCCTTTGGGCATGATATGCATTTATTTTTGTAATAGAGACAGGGTCTCGCCATGTTGGCCAGGCTGGTCTTGAATTTCTGGTCTCAAGTGATCCGCTGGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCACCACGCCTGGCCTGTGACACGATTCTTAACCCCTTTTTGATGATGGCGGCTGGAAAAGTGGCCAGTGGATTTTGATGTATTCAATCATGAATTAGGAGGTGGGGAGAGAATGAATTATTGGAGCTTTCCTTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCNN | pathogenic | 297,556 |
Does the genetic variant at chromosome 19, position 11102662, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGC | TTAAAGCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTCTGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAG | pathogenic | 297,563 |
Clinically, how would you classify the variant at chromosome 19, position 11102667, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTG | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTATGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCAC | pathogenic | 297,567 |
Variant chromosome 19, position 11102667, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTG | GCCATTAAATGGCTCTATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGNN | pathogenic | 297,568 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11102683, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTA | ATTGTTTTTTCAATTGATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTAN | pathogenic | 297,572 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11102698 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAA | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAN | pathogenic | 297,576 |
A genetic variant at chromosome 19, position 11102698, affecting gene LDLR (low density lipoprotein receptor)—is it benign or pathogenic? If pathogenic, identify the associated disorder(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAA | GATGTGAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAANNNNNNN | pathogenic | 297,577 |
Chromosome 19, position 11102703, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCT | GAATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTN | pathogenic | 297,578 |
The genetic variant at chromosome 19, position 11102705, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTA | ATTTCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTAN | pathogenic | 297,580 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11102708, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCC | TCACATAACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACC | pathogenic | 297,581 |
Determine if the mutation at chromosome 19, position 11102714 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACAC | AACATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACNNN | pathogenic | 297,583 |
Is the chromosome 19, position 11102716 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCA | CATGAAATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCAN | pathogenic | 297,584 |
Clinically, how would you classify the variant at chromosome 19, position 11102722, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTC | ATTAACCAGCTCAGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATGGCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGT | pathogenic | 297,589 |
Assess the clinical significance (benign or pathogenic) of the variant at chromosome 19, position 11102734, gene LDLR (low density lipoprotein receptor). What disease(s) is it linked to if pathogenic? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGT | AGTGGCATTAATACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGAGGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGT | pathogenic | 297,593 |
Determine if the mutation at chromosome 19, position 11102745 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Familial_hypercholesterolemia'] | TACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACA | TACATCTGCAATGCTGTGTGGCCACCACCTCTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAN | pathogenic | 297,605 |
Does the chromosome 19 mutation at position 11102775 within gene LDLR (low density lipoprotein receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATT | CTATCTTGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGACAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTN | pathogenic | 297,621 |
Evaluate if the mutation on chromosome 19 at position 11102781 in LDLR (low density lipoprotein receptor) is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAA | TGTTCCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAANNNN | pathogenic | 297,624 |
Variant at chromosome position 11102785, chromosome 19, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAG | CCAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGNN | pathogenic | 297,628 |
Variant at chromosome 19, position 11102786, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGA | CAAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAG | pathogenic | 297,629 |
Mutation found at chromosome 19 position 11102787, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAA | AAAACTTTGCATAACCTAATGTCTTTTTTTTTTTTTTTTTTTGAGACGGAGTCTCGTTCCATCACCCAGGCTGGAGTGCAGTGGTGTGATCTCAGCTCACTGCAACCTCCGCCTCCCAGGTTCACGCCATCCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCACCCTCCACCACATCCGGCTAATTTTTTGTATCTTTAGTAGAGATGGGGTTTCACCATGTTAGCCGGGATGGTCTCGATCTCCTGACCTCGTGATCCACCTGCCTCCGCCTCCCAAAGTGCTGGCATTACAGGCGTGAGCCACCATGCCCGGCCTATTTTTTTTTTTAAGAGATGGAGTCTAATTCTGTTGCCCAGGCTGGAGTCCAGTGGTACCATCATACTTCACTGCAGCCTTGACCTCTTGGGCTCAAGTGATTCTCTTGCCTCGAACTCCCAAAGTATTGGGATTACAGGTGTGAGCCACCGCACTCAGCCTAATGTCCAGTTTTTAACAAGCTCCATTTAAATGCCCTCCGTTTTGACCCATAAAGGGGTAGGCTTGGCCGGGCACAATGGCTTGTGTCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGAAAGGCAGAAAGATTGCTTTATAAAGCCCAGGAGTTTGAGGGCCACCTGGGTGGCATAGCTAGACCTCATCTCTAAAAAATAAGTAATAAATAAATATTTGTTTTTGTTTTTTTCTTTTTCTTTTCTTTTTTTTTTTTTTTTGAGACGGAGTCTTGCTCTGTTGCCCAGGCTGGAGTGCAGTGGCGCGATCTCAGCTCACTGCAAGCTGTGCCTCCTGGGTTCATGCCATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCACTACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGATGGGGTTTCACCACGTTAGCCAGGATGGTCTCAATCTCCTGACCTCGTGATCCGCCAGCTTTGGCCTCCCAAAGTGTTGGGATTACAGGCGTGAGCCACTGAGCCCGCCCCATATGTATGTATATATATATTTTTTTAAAATGGGAGACCAGGCATGGTGGCTCATGCCTAGAATCCCAGCACTTTGGGAAGCTGAGGTAGGCGGATCACTTGAGGCCATGAGTTTGAGACCAGCCTGCTCAACATGATGAAACTTCTATCTCTACTAAAAAAAAAAGTGGGATTAGGTCAGGCACGGTGGCTCACACCTGTAATCCCAGCACTTTCAGAGGCCGAGGCAGGAGGATCATGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCCGTCTCTACTAAAAAAATACAAAAAATTAGCCAGGCGTGGTGGCGGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCGGAGCTTGCAGTGAGCCAAGATCGTGCCACTGTACTCCAGCCTGGGCGACAGAGCAAGACTCTGTCTCAAAAAAAAAAAAAAAAGTGGGATTGACATTCTCTTCAAAGTTCTGGGGTTTTCCTTTGCAAAGACAGGATTGGCAAGGCCAGTGGGTCTTTTTTGTGTGTGTGTGTGTGACGGAGTCTCACTCTGCCACCCAGGCTGGAGTGCAATGGCAGGATCTCGGCTCACCGCAACCTCCTCCTCCCAGGTTAAAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGACTACAGGTGCCCGCCACCACACCCAACTAATTTTTGTATTTTTAGTAGAGACAGGGTTTCACTATATTGGCCAGGCTGGTCTTGAACCCCTGACCTCACGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGTGCTCGGCCTCAGTGGGTCTTTCCTTTGAGTGACAGTTCAATCCTGTCTCTTCTGTAGTGTCTGTCACCTGCAAATCCGGGGACTTCAGCTGTGGGGGCCGTGTCAACCGCTGCATTCCTCAGTTCTGGAGGTGCGATGGCCAAGTGGACTGCGACAACGGCTCAGACGAGCAAGGCTGTCGTTAAGTGTGGCCCTGCCTTTGCTATTGAGCCTATCTGAGTCCTGGGGAGTGGTCTGACTTTGTCTCTACGGGGTCCTGCTCGAGCTGCAAGGCAGCTGCCCCGAACTGGGCTCCATCTCTTGGGGGCTCATACCAAGCCTCTTCCGCCCTTCAAATCCCCCCTTGACCAGGAGGCATTACAAAGTGGGGATGGTGCTACCTCTTCGGGTTTGTCACGCACAGTCAGGGAGGCTGTCCCTGCCGAGGGCTAGCCACCTGGCACACACACTGGCAAGCCGCTGTGATTCCCGCTGGTCGTGATCCCCGTGATCCTGTGATCCCCGCCCCGTGAGGCTGAACACATAGTGACGCTTGCTAGCCAAGCCTCAATGACCCACGTAACATGAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGA | pathogenic | 297,631 |
Mutation found at chromosome 19 position 11105219, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGAC | GAAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGA | pathogenic | 297,641 |
Considering the genetic mutation at chromosome 19, position 11105220, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACG | AAGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,642 |
Considering the variant on chromosome 19, location 11105221, involving gene LDLR (low density lipoprotein receptor), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGC | AGGGGGAAAAGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCNNNNNNNNNNNNN | pathogenic | 297,643 |
Regarding the variant at chromosome 19 and position 11105230, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTA | AGCCAGAAAGTTCTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACTCGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTA | pathogenic | 297,648 |
Regarding the variant found on chromosome 19 at position 11105242 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTT | CTGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATT | pathogenic | 297,653 |
Determine if the mutation at chromosome 19, position 11105243 in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTG | TGCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGTGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGNNNNNNNNNNNNNNNN | pathogenic | 297,656 |
Does the genetic variant at chromosome 19, position 11105244, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGC | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTG | pathogenic | 297,657 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome position 11105244 on chromosome 19: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGC | GCCAAGGAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCNNNNN | pathogenic | 297,658 |
Located at chromosome 19 position 11105250, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGT | GAGCAAGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,660 |
Clinical classification of chromosome 19, position 11105255, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTA | AGGCCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAAT | pathogenic | 297,663 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11105258 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGT | CCAAGAATCCCGAAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGTGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTN | pathogenic | 297,666 |
Variant at chromosome 19, position 11105270, gene LDLR (low density lipoprotein receptor): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATT | AAGGGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTNN | pathogenic | 297,671 |
A genetic alteration at chromosome 19, position 11105273, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATA | GGAAATGGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATANNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,672 |
Chromosome 19, position 11105279, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATG | GGACTTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCACTGAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATG | pathogenic | 297,674 |
Is the genetic mutation found on chromosome 19 at position 11105283, within the gene LDLR (low density lipoprotein receptor), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTG 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TTTGAAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGN | pathogenic | 297,678 |
Clinical significance of chromosome 19, position 11105287, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAA | AAGCTGGGCGTCTTCTTGGCTGTCTTAATACAAGTGGCACATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAANNNN | pathogenic | 297,680 |
Clinically, how would you classify the variant at chromosome 19, position 11105326, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, specify the associated illness(es). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCC | CATCCAAATCCAAAACCCCGAAATTCAAAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCNNNNNNN | pathogenic | 297,700 |
The mutation in gene LDLR (low density lipoprotein receptor) at chromosome 19, position 11105353—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCT | AAGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTC | pathogenic | 297,717 |
Variant in gene LDLR (low density lipoprotein receptor), located at chromosome 19 position 11105354: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTG | AGTCTTGAGCACCCGAAATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGNNN | pathogenic | 297,718 |
Chromosome 19, position 11105371, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | ATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGT | ATTCTGAAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTN | pathogenic | 297,727 |
Determine whether the variant at chromosome 19, position 11105377, in gene LDLR (low density lipoprotein receptor) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | AAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGT | AAACGTCTTGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTN | pathogenic | 297,728 |
Chromosome 19, position 11105385, gene LDLR (low density lipoprotein receptor): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGC | TGAGCACTGACCTTTAGAAGGAAATGCTTATTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCNNNNNNN | pathogenic | 297,735 |
Chromosome 19, position 11105415, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGC | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTG | pathogenic | 297,752 |
Considering the genetic mutation at chromosome 19, position 11105415, impacting LDLR (low density lipoprotein receptor): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGC | TTGGAGCATTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCN | pathogenic | 297,753 |
A mutation at chromosome position 11105423 on chromosome 19 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Cardiovascular_phenotype', 'Hypercholesterolemia,_familial,_1'] | TTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGC | TTTTGGATTTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCN | pathogenic | 297,763 |
Does the genetic variant at chromosome 19, position 11105431, impacting gene LDLR (low density lipoprotein receptor), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACT | TTCGGATTTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGAGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGC | pathogenic | 297,768 |
Mutation at chromosome 19, position 11105438, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGA | TTTTACCACTGAGTGTGGAGTCCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGTATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGG | pathogenic | 297,774 |
The genetic variant at chromosome 19, position 11105459, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAA | CCTAATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAN | pathogenic | 297,785 |
Classify the chromosome 19 variant at position 11105463 affecting gene LDLR (low density lipoprotein receptor) as benign or pathogenic. If pathogenic, which disease(s) is associated? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | ATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAG | ATTAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGNNNNNNNNNNN | pathogenic | 297,787 |
Variant in LDLR (low density lipoprotein receptor), chromosome 19, position 11105465—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTG | TAGGAAAAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGN | pathogenic | 297,788 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105471—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGA | AAAAACCAGGCTGACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGANNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,792 |
Regarding the variant found on chromosome 19 at position 11105483 in gene LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, identify the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAG | GACCGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGCAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGN | pathogenic | 297,795 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105486—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCG | CGAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACATAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGN | pathogenic | 297,796 |
Located at chromosome 19 position 11105487, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGG | GAACCAAAGGAAAGCAATAAAAGAAGGCAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGATAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCG | pathogenic | 297,797 |
A genetic alteration at chromosome 19, position 11105514, in gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAA | CAGATAGGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCATGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAN | pathogenic | 297,811 |
Assess the variant on chromosome 19, position 11105520, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGAC | GGGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGA | pathogenic | 297,816 |
Gene LDLR (low density lipoprotein receptor) variant at chromosome 19, position 11105521—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | GGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACT | GGTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,817 |
Evaluate the clinical significance of the mutation at chromosome 19, position 11105522 in gene LDLR (low density lipoprotein receptor): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTG | GTCAGGCACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAATGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGN | pathogenic | 297,818 |
Mutation found at chromosome 19 position 11105529, gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | ACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATG | ACGGTGGCTCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACA | pathogenic | 297,823 |
The chromosome 19, position 11105537 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGT | TCACCCCTGTAATCCCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTNNN | pathogenic | 297,825 |
The chromosome 19, position 11105551 genetic variant in gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAAC | CCAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACN | pathogenic | 297,830 |
Variant on chromosome 19, at position 11105552, affecting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACT | CAGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTNNNNNNNNN | pathogenic | 297,832 |
Chromosome 19, position 11105553, gene LDLR (low density lipoprotein receptor): benign or pathogenic variant? If pathogenic, what are the linked illness(es)? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTC | AGCCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACT | pathogenic | 297,834 |
Is the chromosome 19, position 11105555 variant in LDLR (low density lipoprotein receptor) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCA | CCTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCANNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,835 |
Clinical impact (benign or pathogenic) of the variant at chromosome 19, location 11105556, gene LDLR (low density lipoprotein receptor): what disease(s) if pathogenic? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Homozygous_familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | CTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCAC | CTTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACNNN | pathogenic | 297,836 |
Is the variant located on chromosome 19 at position 11105557, gene LDLR (low density lipoprotein receptor), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | TTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACT | TTTTGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTN | pathogenic | 297,838 |
Mutation at chromosome 19, position 11105560, within LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Hypercholesterolemia,_familial,_1'] | TGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTG | TGAGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGNNN | pathogenic | 297,839 |
Does the chromosome 19 mutation at position 11105562 within gene LDLR (low density lipoprotein receptor) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | AGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCC | AGAGGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCN | pathogenic | 297,840 |
Assess the variant on chromosome 19, position 11105565, impacting LDLR (low density lipoprotein receptor): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCAC | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTT | pathogenic | 297,841 |
Regarding the variant at chromosome 19 and position 11105565, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCAC | GGCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACNNNNNNNNNNNNNNNNN | pathogenic | 297,842 |
Clinical significance of chromosome 19, position 11105566, gene LDLR (low density lipoprotein receptor): benign or pathogenic? Name the disease(s) if pathogenic. | pathogenic; ['Familial_hypercholesterolemia', 'Hypercholesterolemia,_familial,_1'] | GCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACC | GCTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGG | pathogenic | 297,843 |
Located at chromosome 19 position 11105567, the variant affecting gene LDLR (low density lipoprotein receptor)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Cardiovascular_phenotype', 'Familial_hypercholesterolemia'] | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCC | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCATCACACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCC | pathogenic | 297,846 |
The genetic variant at chromosome 19, position 11105567, affecting gene LDLR (low density lipoprotein receptor): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Hypercholesterolemia,_familial,_1'] | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCAAGGACAAATCTGACGAGGAAAACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCC | CTGAGGCGGGTGGATCACTTGAGGTCAGGAGTTCGAGAGCAGCCTGGCCAACACGGTGAAACCCCATCTCTACTGAAAATACAAAAACTAGCCAGGTATGGTGGCGTCTGCCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAATATCACGCCATTGCACTCCAGCCTGGGGGACAAGAGCGAAATTCTGTCTCAAAAAAAAAGAAGAAGAAGGCCGACAAACTATGTAACTCTGCCTTTCTCCATGGTCCAGAACACACAGCCCTCCTGCGTAAATAACTCCTTATCTTCCTGCTCCCAGCTATCATCAGACACCTCGGCTGATAGAAAATTGCAAGTTAGCTCACTGCAACCTCGGCATTATAAGTACTGCACAAAGCCCTCTTCAGCGCACAGCACAAGCACCATTCTATAAAATCTCCAGCAAGCGGCCAGGTGCAGTGGCTCATACCTGTAATCCCAGCATTTTGGGAGACTGAGGCGGGCGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAACCCCGTCTCTATTAAAAATACAAAAAAATTAGCCAGGCGTGGTGGCAGGTGCCTGTAATCCCAGCTACTTGGAAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGTGGAAGTTGCAGTGAGCCGAGATCTTGCCATCGCACTCCAGCCTGGGGGACAAGAGTGAGACTTCGTCTCAAAAAAAAAAAAAAAAATTCCCAGCAAGCCTTTGTCTTCTGGCAGTCAGCTCCTCTCTTGCTGACCTGCTCATTGCTTTCTTGCAAGGTATTTTCCTACCTACTTTCTGGAATAAATCTGTCTTTCTGTACTTACAACTACCTTTTTTAAAATTTCTTTCTTTTTTGAGATGGAGTCTCACTCTGTTTGCCCAGGCTGGAGTTCAGTGGTGCAATCTCAGCTCACTGCAACCTCTACCTACTGGGTTCAAGCGATTCTCCTGCCTCAGCTTCCCGAGTAGCTGGGATTACAGGCGTGCACCAGCACGCAGGCTAATTTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGGCCAAGGTGGTCTTGAACTCCTGACCTCAAGTGATCCTCCCACCTCAGCCTCCCAAAGCGCTAGGATTACGGCCATGAGCCACTGAGGCCGGCTGCACCTACAACTGTCTTGATAAATTCTTACCCCCACACCACTGGTCCAGATAGTCAGTGCTCACCCACAACATTAAGGATATTCCAAATTTGAAACATTCCAAAATCAGAAAAATATTCCAACTCTGAAAATATTCCAAAATCCAAAAAAATTCAAAATCCAAAACACTTCTGGTCCCAAGCATTTTAGAGAAGGGATACTCAACCCAAAATAAGGACAGCAATTCTATAAATTGTGCTACCATCTTGCAGGTCTCAGTTTAACAGCTTTACACCTATTAGCGCACCAGTGCTCATAGCAGTGCTGGGAAATGTGTACAGATGAGGAAACTGAGGCACCGAGAGGGCAGTGGTTCAGAGTCCATGGCCCCTGACTGCTCCCCAGCCCGCCTTTCCAGGGGCCTGGCCTCACTGCGGCAGCGTCCCCGGCTATAGAATGGGCTGGTGTTGGGAGACTTCACACGGTGATGGTGGTCTCGGCCCATCCATCCCTGCAGCCCCCAAGACGTGCTCCCAGGACGAGTTTCGCTGCCACGATGGGAAGTGCATCTCTCGGCAGTTCGTCTGTGACTCAGACCGGGACTGCTTGGACGGCTCAGACGAGGCCTCCTGCCCGGTGCTCACCTGTGGTCCCGCCAGCTTCCAGTGCAACAGCTCCACCTGCATCCCCCAGCTGTGGGCCTGCGACAACGACCCCGACTGCGAAGATGGCTCGGATGAGTGGCCGCAGCGCTGTAGGGGTCTTTACGTGTTCCAAGGGGACAGTAGCCCCTGCTCGGCCTTCGAGTTCCACTGCCTAAGTGGCGAGTGCATCCACTCCAGCTGGCGCTGTGATGGTGGCCCCGACTGCGGTATGGGCGGGGCCAGGGTGGGGGCGGGGCGTCCTATCACCTGTCCCTGGGCTCCCCCAGGTGTGGGACATGCAGTGATTTAGGTGCCGAAGTGGATTTCCAACAACATGCCAAGAAAGTATTCCCATTTCATGTTTGTTTCTTTTTTTTCTTTTCTTTCTTTATTTTGTTTTTGAGATGGAGTCTCACTCTGTGATTTTTTTCATCTCTAAATTTCCTACATCCATATGGCCACCATGAGGCCCCAGGCTGGCCGATGGTTGCTGTTAGCTTATTGGGAAATCACTGTTTGGAAGGTGCTGGTTGTTTTTTGTTGTTTGTTGTTTTTGTTTTTGTTTTTGTTTTGAGACGGAGTCTCGCTCTGTCGCCAGGGTGGAGTGCAGTGGCGCGATCAGCTCACTGCAACCTCCGCTTCCTGGGTTCAAGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCGCGGATTACAGGCATGTGCCACCACCTCCGGCTATTTTTTTTTCTATTTAGTAGAGATGGGGTTTCACCATGTTAGTCAGGCTGGTCATGAACTCTTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGCACTGCTGCACCCAGCCTTTTTTTGTTTTTTTGAGACAGGGTCTTGCTGTCACCCAGGTTGAAGTAAGGTGGCACGATTATGGCTCACTGCGGCCTTGATCTCCTTGGCTCAAGCGATCCTCTCACTTCAGCCTCTCAAGCAGTTGGAACCACAGGCTGTACCACCAAGCCTGGCCAATTTTTTTGTACAGACACAGGCTGGTCTTGAACTCCTGGGCTCAAGCAATCCTCCTGCCTTGGCCTCCCAAAGTGCTGGGATTCCAGGCATGAGCCGCTGCACCCGGCAAAAGGCCCTGCTTCTTTTTCTCTGGTTGTCTCTTCTTGAGAAAATCAACACACTCTGTCCTGTTTTCCAGCTGTGGCCACCTGTCGCCCTGACGAATTCCAGTGCTCTGATGGAAACTGCATCCATGGCAGCCGGCAGTGTGACCGGGAATATGACTGCAAGGACATGAGCGATGAAGTTGGCTGCGTTAATGGTGAGCGCTGGCCATCTGGTTTTCCATCCCCCATTCTCTGTGCCTTGCTGCTTGCAAATGATTTGTGAAGCCAGAGGGCGCTTCCCTGGTCAGCTCTGCACCAGCTGTGCGTCTGTGGGCAAGTGACTTGACTTCTCAGAGCCTCACTTCCTTTTGTTTTGAGACGGAGTCTCGCTCTGACACCCAGGCTGGAGTGCTGTGGCACAATCACAGCTCACGGCAGCCTCTGCCTCTGATGTCCAGTGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGAGATTAAAGGCGTATACCACCACGCCCGGCTAATTTTTTGTATTTTTATTAGAGACAGGGTTTCTCCATGTTGGCCAGGCTGGTCTTGAACTCCTGGTCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTAGGATTACAGGTGTGAGCCACTGCGCCAGGCCTAATTTTTTTGTATTTTTAGTAGAGATGCGGTTTTGCCATATTGCCCAGGCTGGTCTCGAACTCCTGGGCTCAAGCGATCTGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCACAAACCACCGTGCCCGACGCGTTTTCTTAATGAATCCATTTGCATGCGTTCTTATGTGAATAAACTATTATATGAATGAGTGCCAAGCAAACTGAGGCTCAGACACACCTGACCTTCCTCCTTCCTCTCTCTGGCTCTCACAGTGACACTCTGCGAGGGACCCAACAAGTTCAAGTGTCACAGCGGCGAATGCATCACCCTGGACAAAGTCTGCAACATGGCTAGAGACTGCCGGGACTGGTCAGATGAACCCATCAAAGAGTGCGGTGAGTCTCGGTGCAGGCGGCTTGCAGAGTTTGTGGGGAGCCAGGAAAGGGACTGAGACATGAGTGCTGTAGGGTTTTGGGAACTCCACTCTGCCCACCCNNNNNNNNNNNNNNNNNNNNNNNNNNN | pathogenic | 297,848 |
Subsets and Splits
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