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 |
|---|---|---|---|---|---|
Gene mutation in ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44376087—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTG | GAGATTACAGGCATGTGTCAACACGCCCGGCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGNN | pathogenic | 276,846 |
A mutation at chromosome position 44376116 on chromosome 17 in gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | pathogenic; ['Glanzmann_thrombasthenia'] | GCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGT | GCTAATTTTGGTATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTNN | pathogenic | 276,850 |
Gene ITGA2B (integrin subunit alpha 2b) variant at chromosome 17, position 44376142—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | TGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTT | TGGGGTTTCACCATGTTGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTN | pathogenic | 276,851 |
Is the chromosome 17, position 44376158 variant in ITGA2B (integrin subunit alpha 2b) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATT | TGGCCAGGCTGGTCTCGAACTCTTGACCTCAGGTGATCTAAACGCTTTGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCCCACTGGACCGAGAATGACATTCTAATAGTGGAGACATAGACCCCTGGTCCCTGGATTACCCACTTGGGTGGGCCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTN | pathogenic | 276,852 |
A genetic alteration at chromosome 17, position 44376317, in gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Glanzmann_thrombasthenia'] | CCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTC | CCACCATCTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCN | pathogenic | 276,857 |
Mutation found at chromosome 17 position 44376324, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate the relevant disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTG | CTCTCCTTGACTCCCTGTGAGGCAGGGCAGAGCCAAGCCTGTGCCCCGCTGGGGACTCCACCGTCCTTCACACCTCACCTTCCACATGGCCAGGACCAGGATGGTGAGCAGCAGCAGGCCACCCAGCACACCCACCAGCACCCACCAGATTGGAATGGCCCTCTCCTCCAAGGCCCGGAGCAGCTGTGTCCACACCTGGGGGCAAACCCACGTGTCTCCTCAGTCACCTTGACACCTGCCTTTCACAAAGACTCAAACCTCAGGCTGGTGACCTCCAGCCATGCCACCCACCCGTACCACCCCTCAGACTTTTCTGGCTGGGCACTGACTGGGGGACAATGGGTCCTGCAGGACTGGTCTCTGCTCCATCCCCCCACACTCACCTGAGCTTCCCCTCGGGGCAGGCTGAGCGGGGGCACCGCATAGGGGAGGGAGGACACGTTGAACCATGCGTGCGACTGCAGCACAAACTGATCCAGAGGCCTCTGGACAGGTTGGGGTTGAAAGCCGTTTACACCCACAAGAGGCCTATTGGTTGCAGGAGTCCAGGTCCCACACCCCCGGCGGGGAAGCCCTGCCTCTGACCTAATCCCACTGCAATCCCCCAAAGTAAACCTTGCCTTCCCTCTCTTCCTGCCCTCCCACACCAAACCCCGCCCCTCCCAGAGCAAAGTGGTCCCCGCCCAGAAGGCCCGGCCCCGCCCCACCACGGCCCACCCCACCTGGTAGAGGCTGGGCAGCCACAGGAAGGCCAGCACCGTGACCATGGCCCGCTGCCCGCGCGCCATCTCCTGCAGGTCACACTGCACCACAGTACAGGGCGCCGAGTCGCAGCTCTGAGGGGAAGCATCGTCAGTCCCCAGCCCGTCCCGGCCCATCACCCCATCATCCCCCACCCCCTTACCCCCAGGACCCAACGCAGAAGGGGCCGGGGGTTCAGGAAGCGGTGGCCTTCCCATCAGGAAGGGCCTTGGATCCAAGCTTCGGATGCTGTCTTTCCACGGGCTTGCTCACATAGTCCCAGAGATGCAGGGAGGGTCATCCCCCAGCGCACAATGCTCAGATCTATGATAACCTTGCTTTGGCATTGTTTTATGCTCCTTAACGTACTGGGAAGCTTTTAAAAAGTGCAAGTGTCTTTCAGCTCACCCCAGACACAAGCCAGCATGCTCCTCCATGTTCACTTGAAGTGCTCCCAGGGACCAAGCGTGGCCCACAGAGGCCCACAGCACACCCGGACCCCTCTCCCTCCTCCCATCCCCTCTGCCCCGTGGGTCCCGGGGAGGCCGGGCCAGAGACCAGAGAGCCTGCTCACTACGAGAACTGGATCCTGAAGCCTCGAGGGCTGCTCGGGCTCTGGCAGGAAGATCTGTCTGCGATCCCGCTTGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCG | pathogenic | 276,860 |
The genetic variant at chromosome 17, position 44377710, affecting gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | TGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAG | TGTGATGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGN | pathogenic | 276,868 |
Benign or pathogenic: chromosome 17, position 44377715, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | TGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACA | TGGGCCGGGTGAATGGGGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACAN | pathogenic | 276,870 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44377731—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia'] | GGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCAC | GGGAGGGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACCACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCA | pathogenic | 276,871 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44377736—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia', 'Macrothrombocytopenia'] | GGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGG | GGGCTGGGGATGGGCAGCCCCCAGTCCACCTGGGGGGGCAAAGGAGTGGTCAGGCCCAGGTCTCCCCCGAACCCCAGCCCACAGAGGTGCCCCGGTGGTTGGTCTGGGGCCGCCTTCCCAGGTCTTTCTTCCACCCAGCTCTTACCTTGAGAGGGTTGACAGGAGGCTGTGGGAAGCACTGAAGGCCCCCCTGGGGCTGTATATCCAGGATGTAGAGCAGGTCGGAGGGCTGGGACTGTCCCGGAAGGTGGATGCTGAGGTGAAGACCATTCACAGTCCCAGGGCCATTGTTGTGGAGCTGAAGGGGTGGTGGTGGCAGGGTGTGGGGAGCTTAGCGCCTCACCCGGAGTTCTGAGGACCCGCTCACCCCAGCCAGGGACGCGAGGCTCCCCAATACCTCATAGGTGTGCTCCACTTTGGGTCCCCAGCTGTCCAAGCTGTTCTGCTCCCTCTCACCTTCTTCTGCTGCCACCACCAGGGAGGCTGGAAAGGAGTTCCTGCAGGTGCCCAAGACCCCCAGAGAGAGTGTGATGCCCTGATTGGCCTGTGAGGTTTCCCCAGCGCCCCCTGGAGTTTAGAGCCCTGAATGCCATCTCCCTTCTCCACCCCTGGCCTCTCACCCTCGCAGCTCCACTTGGGCCTCTGCCCGGACCGGCACGTCCAGCAGCACAATCTTGCTGTTTGGATTCTGGCTGTTCTTGCTAGAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATG | pathogenic | 276,873 |
Benign or pathogenic: chromosome 17, position 44378440, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGA | GAGGGGAGGGGATGAGGAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAN | pathogenic | 276,883 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 44378456, gene ITGA2B (integrin subunit alpha 2b): what disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGG | GAGAAACAGGGCCAGGGACACCAGCCCAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAG | pathogenic | 276,884 |
Variant on chromosome 17, at position 44378482, affecting ITGA2B (integrin subunit alpha 2b): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Abnormal_platelet_aggregation', 'Glanzmann_thrombasthenia'] | CAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGG | CAGTGACTTTCTGGGGGTGAGGCCAGAATTTTAGAGAGTTCAGAGAGAGCTAATTATACAAAGAGCATGCCACACTGAAGTTAGACCTGGGAAAGAACTTCCTCTAGGGCTCCAAGACTCAGACATAAATCTCTGAGGAAGAAAGGGAACCAGGCTTCTTCAAAGACCTTTTTTTTTTTCTTTTGAGATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGN | pathogenic | 276,887 |
The chromosome 17, position 44378668 genetic variant in gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGG | GATAGAATCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGNN | pathogenic | 276,893 |
Is the genetic mutation found on chromosome 17 at position 44378675, within the gene ITGA2B (integrin subunit alpha 2b), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCA | TCTCGCACTGTCGCCCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATAACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCC | pathogenic | 276,894 |
Does the variant on chromosome 17 at location 44378689 affecting gene ITGA2B (integrin subunit alpha 2b) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | CCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCA | CCAGGCTGGAAGGCTGGAGTGCAGTGGCCCAATCTCAGCTCACTGCAACCTCCACCTCCCAGGTTCGGTTCAAGCTATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTGTAGGTGCGCACCACCATGCCCAGCTAATTTTTATATTTTTAGTAGAGATGGGGTTTCACCATGTTGGCCAGGCTGGTCTCCAACTCCTGACCTCCAGTGATCCTTCTGCCTTGGCCTCGCAACGTGCTGGGATTACAGGTGTGAGCCACTGCGCCTGGCCTCGAAAGACCCTTCTGTATGGAAGGGACCTGAGGGGCTCTGCACGGGGGTCAGACGGGGGAAGGGTGGTGGGTAGGCACGCTCGCCAGGTCAGTACCTCCGTATCTGCAGCTGGAAGGACACAGACTCCCCAGCCTCTTCCAGATTCCCCACGCTCACCAACATCGCGATTCCTATCTGGGAGATGAGGAGGGCCAAGGTCACTGCCCAAGTGCCCCACTTAGGACAGCCCTGCCCTGAATGTGGCCTCCAGTCTTCACCCTCCAAGATCACCACTATTCTTTTTCTTTTTTTTTTTTTCCGAGACGGAGTCTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCGGCTCACTGCAACCTCCACCTCCCAGGTTCAAGTGATTTTTCTGCCTCAACCTCCCGAGTAGCTCTGACTATAGGCGTGCGCCACCATGCCCGGGTAATTTTTGTATTTTTAGTAGAGACGGGGTTTTGCTATGTTGGCCAGGCTGGTCTTGAACTCCTGACCTCGTGATCCACCCGTCTCGGCCTCCCAGAGTGCTGGGATTACAGGCGTGAGCCACCGCACCAGGCCACCATTATTATTTCTATTTTACCTGGAAGCCCACTGGGTAAAGGGGCTCAGAGAGGGAAAGTCACTCACCCAAGGACATGTGGCAAGGGAGTGTGAGGACCAAGATTCTGGCCCAGAACTATGTGGCTCTAAAACCTCACCCCTAAAATCTGGTTATTCATGAGCCCCTGGTGGAGACCCGGTACCACGACCCAGCAGCCTCACCTGGGCGTTCTTCTTCATGGGGTTGCCCAGCTCACACAGCACCACCCTGGTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCCAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCAN | pathogenic | 276,895 |
Located at chromosome 17 position 44379795, the variant affecting gene ITGA2B (integrin subunit alpha 2b)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | GTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTG | GTCTCATTCTCCTTCTTCTGATTACAGATGAGTCTCTCAAAGCCCTTCAGGAAGGCAGTTCCAAGAAAGAAATTACAGAGCATCATATATATATATTTAAGCTCCCTTGGAAGGTCTGGAAAGATTTGTGTGCCAAGGTAGGGAGGGGGGGGTTTCTTGGGGTGGGGTCTCAAGGGACTGTCACATGCTAGTGTGTGTATTGCTGTAGCACTACTACTTTTTAGGCATTTTCATTTTGGAAATAAAAAACACAAAACATTAGAGTATGACCCCCATTATTATAAACTATATTAACAACATAAAAAATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCT | pathogenic | 276,904 |
Chromosome 17, position 44380099, gene ITGA2B (integrin subunit alpha 2b): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGG | AATAAATATATACTTATGTGAGTGTGAGTCAATATTGAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGN | pathogenic | 276,909 |
Mutation at chromosome 17, position 44380135, within ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATT | GAAAAAAAGACTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTN | pathogenic | 276,915 |
Variant in ITGA2B (integrin subunit alpha 2b), chromosome 17, position 44380145—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia'] | CTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAAC | CTGGAAGGAAATCCACCAAATGTTAACAGAGGTTCCTGTTAACATTTGGTTCCTAAACCTTTTTTGTTTTTCTGGTTTTTGTAATAGAGTTTTGGAATTCTGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCTTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACN | pathogenic | 276,918 |
Variant on chromosome 17, at position 44380245, affecting ITGA2B (integrin subunit alpha 2b): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGT | TGTGCCATTAGCAAGTATTCCTCCTCCAAATTAAAAAAAAAATAAAAAATTACATCTTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTNN | pathogenic | 276,921 |
Is the variant located on chromosome 17 at position 44380301, gene ITGA2B (integrin subunit alpha 2b), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | TTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCT | TTTGACAGCAAAGCAGAAGAGAAGAGGGACTCTCAGGGAGGGAGATGAGAGAGCCAAGGCTCCAGTGCCTCCCAGGTCCCGGGTACTGTTCCCAGGGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTN | pathogenic | 276,926 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44380396—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTG | GGTGGGGGCCATACCTCGACATTGCTTAGGGCCCGCATGTAGTGGGCGCCCTGGGGCAGGTGCACGGCCAGCTCTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGNNNNNNNNNN | pathogenic | 276,931 |
Benign or pathogenic: chromosome 17, position 44380469, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | CTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTT | CTGCTTCATAGGCCCCCTCGCCCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGACCTGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTT | pathogenic | 276,932 |
Variant in gene ITGA2B (integrin subunit alpha 2b), located at chromosome 17 position 44380490: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1', 'ITGA2B-related_disorder'] | CCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGT | CCTCGTTGGCTGCGTCCATCTGCAGCTCCAGGACATTATCTGCCCCAACTAGGAGCGGGGAGCCCGTCCTGTGGGGAAAGAGGAGTGAAGCCAGGGAGCCTGGGTCTGGGCCCAGGATGTGGGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTNNNNNNNNNNNNN | pathogenic | 276,933 |
Considering the variant on chromosome 17, location 44380611, involving gene ITGA2B (integrin subunit alpha 2b), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Glanzmann_thrombasthenia'] | GGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTA | GGAAAAGAGGGGACTAAGGTGTGGAGCAGGTATGATAGGCAGAAAGGGCCAGGGTCGGGCAGAATGGGAGGCCTCCTCACACGCTGGCAGTGAGCTGAAGCTGGGGCACACATACGTCATCTTCCCCACAGTCCAGGACGATTCGTGTCTAGAGGGGCACATTGGGGTGTGCGGGTAAGTTGGGGATGTGTGAGGTTTAGGGATTACATCAGGGTTAGGAAAACAGTGGGCTTGGGGTTCACATAGGGGCTTAGGGAGTAAGAAGATCTGAGGACGAAAAGGAGTTTGTAGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACA | pathogenic | 276,935 |
Determine if the mutation at chromosome 17, position 44380900 in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | AGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGG | AGATGGTATCGGGGCTCGGGTTTATTTGGAGGTTTGGGACAATGTCAGGGTTTGTCAATTTACATCAGAGCTTAGGGGATACTGGGATTTTCAGGTGTTTATTTTATTTTTGGAGACGGAGTCTCGCTCTGTCGTCCAGGCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGNNNNNN | pathogenic | 276,943 |
Mutation at chromosome 17, position 44381039, within ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGA | GCTGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTG | pathogenic | 276,950 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44381041—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAAC | TGGAGTGCAGTGGCACTATCTCGGCTCACTGCAAGCTCCGCCCCCCGGGGTTCACGCCATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGACTACAGGTACCCGCCACCACGCCCAGCTAATTTTTTTTTTTTTTTTGTATTTTTAGTAGACGGGGTTTCACTGTGTTAGCCAGGATGGTCTTGATCTCCTGACCTCGTGATCCACCCGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACTGCGCCTGGCTTTTTTTTTTTTTTTTGAGACAGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCTGTGGCACACTCTTGGCTCACTGCAACCTCTGCCTCCTGGGTTCAAGTGATTCTCCTGCTTCAGCCTCCCGAGTAGCTGGAATTACAGGCATGCGTCACCACACCCGGCTAATTTTTTTTGTATTTTTAGTAGAGATGGGTTTTCACCATGTTGGCCAGGTTGGTCTCTAACTCCTGACCTCAGGCAATCTGCCTGCCTCGGTCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCATGACTGGCTGGATTTTGAGGTTTTCATTAGGGTTTGGAATGACATCAAGGTTTTGGGGTTCACATTGTGACTTGGCACTAACCCTAATCCTGATTTGCTATCAGGGGTCCTGCACCTCCCTGGCCTGTCCCTGCCTGTCCCTACCTGCTCCTGCACATGGGTGTCTCCATGCAGCACGACAGCAGGGGCCATTCCAGCCTCCGTGGGCGGTAGGGACACATTGAGGCTGAGCACAATGGGGCTCAGCTTGTCCCGGAAGTCTGCCTCATCCTAGGACAGGGGCAAGAGTCAGGCCATCTTGCTACCATACACATCCCACCTTCTCCTGGCCAGTAGGCACCGTGTCCTGACCACCCCCGGACTCACAGCACCCAGCTCAGTGCCCCAGGGCTAGATGAACAAGTCCAGTGGGTAAGTTCTACTCTCCCAGCCCTGCCAATCCCCTGCCTGGGCGTACTCGAAGGAAGGCCATGGTGGTGTGGCAGATGGGGCTGTGCTTTCCGCCCAGATCCAGGTTCAGGGTGGTGCCTGCCTGTTGAGAGCCCAGCAGCAGCACCCGCCGGCCCTGGCGGGGCTTCTGCCGGTCCAGCTGCAGCTCGGCATTTAGGGCTGGCAGGGCAAGCAGAAGAGTCAGGACCTCCCTGGCCAGCCTCCGGGGGAGTCCAAGCCCACCTCCCTCCTGCCCCCTTCATGCCACTCACATAGCTTCTGAGGAATGTTGTGCCCAGTGGCTCCAACACACATCTGGATGTTGAAGCTGCAAAGACGTAAGTGGGGCTCAGGGGTTGGAGCCTTTCTGAGGTCCCAGATCCTTTAAGGCCCATGCCCTCTGCCTCCTCACCAGCTCACGGGTGTCTTGGTCTGAGGTAGGACACAGCTCTTCACAGCAGGATTCAGTGAATCTTGCACCAGTAGCTGGACAGAGGCCTTCACCACTGGCTGAGCTCTGATGGGATAGGGTGATGGGGTAGGCTTGCCATTGTGGCTCCTCCTGGCCTGGCCTCCTCTTGATGGCACAGGACCTTCCCCATCCCGCCCCTGGAGCCAGTGCTCACCTGTACACAGCCACCTGGTTGGCCCCGTAAGCTCCCACGATCAGGTCTATAGACATCGAGGAATGGGTCAGAATTGGCGATTAGGGCATGGGATCCTCATCTCATCTTCCCAGGGGTTCCCCACACCACCTCCCCCACTGGAGGTTTCACCCAGCCCCTCTGGCAGTCCATAGTGGGACACCAGGCCAGGCATGAGCCCCTGGCCGTGTCTCTTGGCACTTCCAGCGAATGTCCAAGGGCCTTTCTTGGGCATTTCTAGCTGGAGGCAGTCCAGGGCACCTGGGTATCCGTTGTCATCGATGTCTACGGCACCTCGAAGGGAGAAGCCAAAGGCAGAGCCTGTGGGGAAGGGGCTGTCCAGGACCTGGGAGGGACGTGACCTCAGCCCCTCACTCTGACCCAGGAACACCAGCACTTGGCCCCGGCCACTGGGACCCCCGTAGGGGCAGCCACTGCAATGTCTGGAAGGAGTAACAGAAAGGAAGTGGCTGATTGTTATTCAGCCTCCCTAGATGACTGTAAAACTTTCCTGAGCTTCTCTGGGAACATCCCAGGAGACTAGGAAAGGGGTGCAAAGTGTGGGTGAAGGAGGCACTGCCCTACCCTCCAGGAGTTAACAATCAGGTGGGAGAGGGACCTGCCAAGTAGGATTGTTATAAAAACAGTGACAACTCTCACTGTCTATTGAGGAAAATATATCCTGAAAATTAAGCATCATTATTCCCTTTTCTAAATTTTTTTTTTTTTGAGATGGAGTCTCGCTCTGTTGTCCTGGCTGGAGTGCAGTGGTGCGATCTCGGCTCACTGCAACCTCTGCCTCCCCCGTTAAAGTGATTCTTGTGCCTCAGCCTCTTCAGTAGCTGGGATTACAGGCGCCTACCACCATGCCCGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACCACATTGGCCAGGCTGATCTCGAACTCCTGACCTCAAGTGATCTGCCCACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACN | pathogenic | 276,952 |
Gene ITGA2B (integrin subunit alpha 2b) variant at chromosome position 44383624 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | CACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTC | CACCTTGGGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCNNNN | pathogenic | 276,962 |
Clinical classification of chromosome 17, position 44383631, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | GGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTC | GGCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCGTGCCCAAGCCCCTTTTAAAATTTTTTTATTTTTAAGACAGTCTTGCACTGTCATTCAGGCTGAAGTGCAGTGGTGCAACCATGGCTTACTGCAGCCTCAACCTTCTGGACTAAAGCAATCCTCCCACCTCAGCTTCCCAAGCAGTTGAGACTATAGCCACCATGCCCAGCTAATTTTTAAAAATTTTTATGGAGACGAGATCTCCCTATGTTGGCCAGGCTGGTGTCAAACTCCTAGGCTCCAGTGATCCTCCTGCCTCGGCCTCCCAAAGTGCTGGGATTCCAGGTGTGAGCCACCGTGCCTGGCCATCTAGCATCTATTTCTAGCCTTCTCCATTCCATCAAACTCCCAGACCCCCCACACTTCCTTCAGCAGGTGACGTAATCTCTTACTTCAGGAAGAGAGGCAGCCCACTGTTATGCTATAATCCCACACCAACTTTCTTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGT | pathogenic | 276,964 |
Variant at chromosome 17, position 44384112, gene ITGA2B (integrin subunit alpha 2b): clinically benign or pathogenic? If pathogenic, specify the disease(s) involved. | pathogenic; ['Glanzmann_thrombasthenia'] | TTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGC | TTTTCCCTTTCCCCATTTGACCCTGGAAGAGGTTTCCTTCCTTCACCCTGACACTGGGCCAGTCACCCTCCCACCCCCTGAGGCATCACAGGGACTCTCTGCTGGCTCATCCCCCCATTTCCCCACAACATCATTTTCAACCTACTACATGTTCTTCCACATTGAAATAATCTTCCCTTGACCCTCATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCG | pathogenic | 276,980 |
Variant at chromosome position 44384298, chromosome 17, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | benign | ATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCC | ATCTCTTTTCTGTGATCACCTTTTCTCTTTTTCCTCTTATAGTCAAACATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCN | benign | 276,981 |
Clinical impact (benign or pathogenic) of the variant at chromosome 17, location 44384346, gene ITGA2B (integrin subunit alpha 2b): what disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | ATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGA | ATGTTTTTTTTTTTCCTTTCTATTCCTCAAATTCCTTTTTACCACAAACCTGTTGAAAGAGCTGTCTACATTAGCTGCATCCAATTTTTCATCTCCATTCATACCTTACCCCATTGCATTCTGGCTTCTGACCCTATCTTGGCCTGAATCAATTTATGTCACTGTCACCAATAACCTCCCCTTCTTTTTTCTTTCTTCCTTTCTTTCTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTG | pathogenic | 276,986 |
A genetic variant on chromosome 17, position 44384552, affects the gene ITGA2B (integrin subunit alpha 2b). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glanzmann_thrombasthenia'] | CTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGA | CTCTATTTTTTTTTTTATTTTGTTGAGATGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTAGTGGCGCAAGCTCAGCTCAGTGCAACCTCCACTTCCCGGGTTCAAGAGATTCTCCTGCTTCAATTTCCCAAGTAGCTGGGATTACAGGTATGAGCCACCATGCCTGGCACCCTCTTCTTGCTAAAGCCCATGAATATTTCTCCAGCCCCACCTAATTGTATCTTGCAGCAGCAGCAGGAGCTGCAGCGCCCACTTCCTCCTGTGCATGCTCTTTAACGCATGCTCTTCCTTGAGTCCCGGGCCATCAGACCCCCTGGGTTCCCTCCTCCCTCTCTGGACACTCCTCTGTCTCCTTCTCAGACTTACCTCCTGTAGGAGTCACCTAAATGCTTTTGCTCCCTAGGGCTCTATCCTGGGCCTCTTATTTCACAGGTCCCGGGACCTCATCCACTTTCCCCAAACCCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAN | pathogenic | 276,988 |
Determine if the mutation at chromosome 17, position 44385019 in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | CCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAAT | CCCTGTCTCCCATTCAGATCTCTCTTGTGGAAGCGGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATN | pathogenic | 276,997 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44385053—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCC | GGGGAGAGCCACTCCCAACTGTTCTTTGGATATTTCCGCCTAAAGCACCCAAGCCCTTCAAGCTCAACAGGTCCAGAGCTGAACTGCTGATCTCCCGCCTCTCCCCAGCACCTGCTGCACGGCCTGAGTTCCAGGCAGTGGAGGCCATCACAGGCACCCAACTCCAACCTCTCCCCTGGCCCCACATCCAGTCTCCCACCAAGTCCTAATAATCCGAGTCCTAAATATCTGTGAAGTCACTCCCATCTCTAACTCCACTGCCAAAATCCACATCCAGGTGGTCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGC | pathogenic | 276,998 |
Does the chromosome 17 mutation at position 44385334 within gene ITGA2B (integrin subunit alpha 2b) classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | pathogenic; ['Glanzmann_thrombasthenia'] | TCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGG | TCATTGTCTCTTGCTTGGATTAAGGCAAACACTTCCTAATTAGTCTTCAACTCTCCCATCTGCTCTCCACTCAGCACCCCATGTGTCTAAGCCACATACTTATATGCTTAAAACCCATCCTGGTTCTGGCTGCCCTCAGGCCAACTCCATGCTTTTTGAGTGGCTGTTAACCCCTCTGCAGCAAGTAGGGCTCCTCTCTTCCCTCACCATTGTAGCCATCCCGGTCGAGGTCGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCTTGTCCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATT | pathogenic | 277,012 |
Is the chromosome 17, position 44385565 variant in ITGA2B (integrin subunit alpha 2b) clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAA | CGCCCAGGGGTGCGATGGCAGAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCAGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAN | pathogenic | 277,019 |
Is chromosome 17, position 44385585, gene ITGA2B (integrin subunit alpha 2b) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | pathogenic; ['Glanzmann_thrombasthenia'] | GAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACC | GAGCCGAATCGCCCATAGAGCTGTGTGCCAGTCAGCAGGAGGCTGGGGGCACCCAGCGCGTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCN | pathogenic | 277,022 |
Does the variant impacting ITGA2B (integrin subunit alpha 2b) on chromosome 17, position 44385644, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | GTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTG | GTGGGGGCCTCGCGGCTGCAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCACTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGN | pathogenic | 277,029 |
Gene mutation in ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44385662—is it benign or pathogenic? If pathogenic, specify the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCC | CAGGAACAAATACACACGCCCCACTTCGGCCAGTTTTCGGTCTGCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCNNN | pathogenic | 277,034 |
Evaluate if the mutation on chromosome 17 at position 44385705 in ITGA2B is benign or pathogenic. Disease name(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | GCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGG | GCCCGGCTCTCCATATACAGTGGAGCGCCCACCAGCAGATCATGCCTCCTGTGGGCCAGATGAGTGGTTACATGGGACTGGACCAGGGGTATATTGGGGCTAGGGCCAAATCTCCTCGACCCTTGCTCTCCTGTTCCTCCAGTGGATACGTGAGACTAGGGCTAGGAAAGGGAGACAGAGGGCAGCTCTGGTAATTTGGGACCCAACTGGGTAGGGGTGGGGCATGTCCCTCCTCACCCATCCCCGTTGACGTCAGTGACAGCCACTGAATGCCCAAAATACGACGCCATCTGCAAGATGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGNNNNNNNNNNNNN | pathogenic | 277,038 |
Determine whether the variant at chromosome 17, position 44386003, in gene ITGA2B (integrin subunit alpha 2b) is benign or pathogenic. If pathogenic, identify the relevant disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACA | TGAGGAGCACCATCATTCACGCCGCTGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACANNNN | pathogenic | 277,047 |
Considering the genetic mutation at chromosome 17, position 44386028, impacting ITGA2B (integrin subunit alpha 2b): is it clinically benign or pathogenic? Name the associated disease(s) if pathogenic. | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1', 'Platelet-type_bleeding_disorder_16'] | TGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCAC | TGGACAAGCATCCTCTTTAAGAAATGGGCCCTCACCTCCCATGAAATATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACN | pathogenic | 277,049 |
Clinical classification of chromosome 17, position 44386074, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | TATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATA | TATTCTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAAT | pathogenic | 277,052 |
Variant at chromosome position 44386078, chromosome 17, gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what condition(s) does it relate to? | pathogenic; ['Glanzmann_thrombasthenia'] | CTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAG | CTGAAGTCTCAGTTCCCCCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGNN | pathogenic | 277,053 |
A genetic variant on chromosome 17, position 44386095, affects the gene ITGA2B (integrin subunit alpha 2b). Is this variant benign or pathogenic? If pathogenic, what disease(s) does it cause? | pathogenic; ['Glanzmann_thrombasthenia', 'ITGA2B-related_disorder'] | CCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTAT | CCTCCACCCAGCCACGCCCACTGGGACCTGGCCCCCACCTGCTCTCCGCGCAGCCGATGCAGCCTCTGGTAGTAGGAATCCAAAATTTCCACCTGCACGGACAGCGCAGGCGAGAGCATCATTCTTGTACCCAAAGCAACCTCCCACTCCAGGTGAGAAAGGGTGGTTTGGTGGAGGCGGGGCGGGGGTGGGGGGCGCTCAGGAGTTGTCAGCCTGAGAACTGGGATAAGGGGCTTCGGGAGGCCCAGTGGTGGGGGCACTTACCGCTCCCAGGGTCCAGCTCCAAGTGGGGGCACCGACGACATATTCTGGCGATAGGGAGAGCCAGGCTCAGGGAATGAGAGCCTTAGAACCTACCCACTTCCCGCTCCCCGTTCTGCACCCAGGGAAAAATGTGTGTGCAGGAAGATTTCCCTACATAGGGGAGATTTCAGGAAGGCGCTCCTCCCCGGGCTGGGCTACCCAACTCCCGCCCTAAGTGGATTTCTTGCCTGTAGTGTTGAGATCCCCGTCGAACTCGCCCACGGCCACCGAGTACCCTGAGGACAAGGGCGCAAATTAGTCTTTTCCAGGGGAGGAAGCACAGAGGGGACGGAGGGCAAAGAAGGAGGAGATTAAGGCCACTCAGCCCCAGCCCTGCATTGTGCAGATGGAAAAACGGAGGCCTTCGAGGGGCCAAGCCCTGCCCCAGGCTGCGCTACGAGTCCGCAGTGGAAGGGAGCGGTGGGCGCATGGGAGGTGGGCGGTCTGCGGGGAAGCCGCAGGAGCGGAGGGCGGGAGCGGCTTAGGCGGTGGGTTGGCCGGCAGGGGTGGCCATGGAGGCTCCCACAGGGGCAGGACCTGACCGTCTGCGGTGGGCGGTGACCCTCGGGGTGCTGGAAGTCTGGAATGGCGGTGTTACCCCAGTAGCCGTCGAAGTACTCTGGGTTGCTGGAGTCAAAGGAGAGGCTCTGGGAGGACACGTGCCACAAAAGGATGCCTGGGCGGTAACTCGAGAAAATATCCGCAACTGGAGCCTGGGCCAGGAGACCTAGGGCGGGAGGGACAGCGGGTGTGAAGCCCAAAGCGGTCTCCTTGGGCCGCGAGAAGGGAGGGAGGTGTACGGATGGGCACGTACCTAAGAAATAATAGCCGCCAGGAGCCCCAAGCACCAGCTCTCCGGCCTGGAAGGGAAGTCCTGAGGGTGAGAGGGGGCCCTGTTTGGGAGCCGCCCCCACTGCGCTTTTGCTCCCTACTCGCCTGAGTGACCACGGAGCTGAAGCCCGCTTCACAGTAACGCTTGTCCCAGCCTGCAGGAGACAAGGAGGAGGGGTCAGCGCAGGGGTGAAGGGAGGCGCGCGCGAGCCCGGAGGAGGGCTGGGGGACAGGGGCGGGGCCTTGAGTCGGCGGGGCCCTGGGGCGAGGCCAGATCCAAAGCAAGGGCTGCGGCGCTGGGGGCGGGATCCGATGGGGGCGGGGCCAAGCCGTCGCGAGTGGGCGGGGCCAGGTCGTAGCTGGCGCTTACTAAAATCATTTTCCACGTAAATGCGGCTCAGGGTGTTCCCGCGACAGGGGGAGTACTCGGCGCGGCGGCCGCTCTCTGGCTGAGCCAAAAAGCAGCTACCTACGGGCGTCTTCTCAGCCTCCTCAGTCTTTTCTAGGACGTTCCAGTGCTGCCAGGGGGCGCAGGCCTGGAGAAAGGCCACAGGAGTGGGGACGGGCGCGAGACTTGGGCTCCTCCTGGCCCCAGGTGTCCCTGCCCCCGATTGTTCCCTGTGCCCTGTACCGCGGGGCCCACCACAATGACGTCGCTCCAGCTGACGACCGACGCCCCCAGTCCTTGGCGGGCCTTGAAGGTTTGTAAAGTTTGGGAGCCTACATTTCGGGTCTCATCACCTGGAAGGCACAAGAAGGGGTGGGGCGCTGAAGCCCGGCAGTCCACGTCCCTCTGACCCCAACCTTGCTCTCCTTGCCTGGGACTCACGGAGGTCAAAGAGCAGCGAGGGGCACTGGCCGCCCTCGGCCCTCCAGGGGCACAGGAACACGCCGCCCGTCTCCTCCTGGCTGGGGCCAGGGTCCGCGGGGCGCCCACCACGATGGCCACTCTGCATAGGAAAGCTGGGTGAGCGCCGCGCAGATTCCAGCGTATCCCAGGCCCTGGCGCCGGCGCTGGGAGCACTGCCCGGAAGGCCATGTGGCATGGGGGCACTGGACCATCTTTCCTCAATGACACCTCACAGACCACCGTGATGTACTTCTTCATCTTATGGACAGTGAAACCGACTCTCAGCGAGGGCAATCACGTGGCTAAAGTAACCCAGTGAGTTGAGAGTAGAGCTGGGACTATAACCATTTGGTTTGATTTGAACACCAGGGGTTTGAGATCTTTGCTGAAAAAGACCTAAACTCTGTACAACACCTCCATCCTTCCACCCGCAACAAGAACCAGCGGTTCACATGCTCCCTGGAATGCCTGCCTAGACTGTTACCAGATCCCCTCTTGAGAGCTGGTTTTAATGAGGGAAGGTAGCGGGTACCTCTAAAGTGGGGCTGGAGTGTGTGTGCTGATAGGAGGACCCTAGCAGATCTAGGTTTAAATCACAATTCTGCCATATGTGAAATAGGAATACCAATTTCATAACCAATGACTGGTTTTCACAACCAGTCAATGCTGTCAGGAGTAAATGTAATAAATACGAGTAACGGTTAGCATGGTCCCAGCCAAATACATAACAAACGCTCTTGAAACAATGCTATAATTTTAAAAAATAATTTTGTTGTTTTGAGACAGGGTCTCATTCTGTTGCCCAGCTGGAGTGCAGCAGCATGATCACAGCTCACTGTAGCCTTGATCTCCAGGGCTCAAGCAATCCTCTCCCCTCAGCCACCCTAGTAGCTGGGACTGCGGGTGTGCAACACCATGCCTGGCTAATTAAAAAAAATTTTTTTATAGGCTGGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCAAGGGATTACAGGCGTGAGCCTCTGTGTCTGGCCCATAATATTTTTTTAGCCTGCAGGATGTTTAAGTAGTGCCAATGGGATCACTACTTATAGGAGGGGAAATCAGCAGGAGTGGGCACAGGAAGGAGTTGAGCTGATTCAGGCCCAATGACAGCATTCGCCAACACCCCACGAGCTTTGGAACTAGAATGACCCTTCAAAATTGTCAGAGTTGGCCGGGTGTGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATN | pathogenic | 277,054 |
Does the genetic variant at chromosome 17, position 44389298, impacting gene ITGA2B (integrin subunit alpha 2b), appear benign or pathogenic? If pathogenic, name the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | TGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACA | TGGTGGCTCACGCCTGTAATCCCAGTACTTTGGGAGGCCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACAN | pathogenic | 277,061 |
Benign or pathogenic: chromosome 17, position 44389335, gene ITGA2B (integrin subunit alpha 2b) variant? Disease(s) if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_1'] | CCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTT | CCGAGGCAGGCTGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCAATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCT | pathogenic | 277,062 |
Regarding the variant at chromosome 17 and position 44389360, affecting gene ITGA2B (integrin subunit alpha 2b): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Glanzmann_thrombasthenia'] | CAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTC | CAGGAGTTTGAGACCAGCCTGGCCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCN | pathogenic | 277,064 |
The mutation in gene ITGA2B (integrin subunit alpha 2b) at chromosome 17, position 44389382—clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | CCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCGTATATCATTGTTACTCATAAC | CCAACATAGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGCCGGGCATGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGACAGGAGAATCGTTTGAACCCAGGAGGCAGAGGTTGCAGTGAGCCGAGATCACCCCATTGCACTCCAGCCTGGGCAACGAGAGCGAAACTCCATCTCAAAAAAAAAGAAGAAAAAAAGTCTGGGCATGGTGGCTGAAGCCTGTAATCCCAGCACTTTGGGAGGCCAAGGCGGGTGGATCACCTGAAGTTGGGAGTTCGAGACCACCCTGACCAACATGGAGAAACCTCGTCTCTACTAAAAATACAAAATTAGCCGGGTGTGGTGGCACATGCCTGTAATCCCAGCTACGCGGGAGGCTGTGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAAGTTGCGGTGAGCCAGTGATTGTGCCATTGCACTCCAGCCTGGGCAACAAGAGCGAAACCCCATCTCAAAAAAAAAAAAAAAAAAAAAAAAAAAAGAAGAAGAAGAAAAAAAGAATTGTCAGAGTTGATGAAAGAGGGCTGGACCCTTATCAAATGCCTCCCCCACACCTGCCTCCACTCTCCCCACTCACCCACTTCTCATTGATCAGACACTGGATGTGGGCCATCTTGGGAGGGGACTTGGAGTGAACTGGCTCTCTTCAGCAGAGGAAATCCCCTAAGTGGCTGACACTTGAAGGCTATCTGCCATTGCCACCCATTGCCACTCCCTGAAGCTGGTGGGCACAGTGTCTCTCACAATAGTAGCTCAGGGTACACGCTATGAAGAGGAGGAGCCAAGACTCTAATCTTGGCACTCTTGATTCTGAAGCCTGATCAATACTAATCATTAATGACCTATTGCTTCTTTTCAAATATTTATAATGTTGATGGAGATGAGGGAAATGGAACAGAAATGCAAGGTGCGGGAGGGTAGACAACTTTAGTTCTGCAAATCAATTTAGGACATGTGCTCCTCTCCACATTTCCTTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTTTCGCTCTCGTTGCCCAGGCTGGAGTGCAATGGCATGATCTCGGCTCACCACAACCTCTGCCTCTCAGGTTCAAACGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAAGCATGCGGCACCACGCCCGGCTAATTTTTTTTTTTTTGAGACGGAGTGTCACTCTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTCACTGCAACCTCCACCTCCCGGGTTCAAGTGATTCTCCTACCTCAGCCTCCCGAGTAGCTGGGACTACAGGAGTGTGCCACCACGCTCAGCTAATTTTTGTATTTTTAATAGAGACAGGGTTTCACCATATTGGCCAGGCTGGTCTTGAACTCCTGACCTCATGATCTGCCCACCTCTGCCTCCCAAAGTGCTGGGATTGCAGGTGTGAGCCACTGTGCCTGGTCTCTTTTTTTTTTTTTTTTTTGTATTTTTAGTAGAGACGGGGTTTCTCCATGTTGGTCAGGCTGGTCTCGAATTCTCGACCTCAGGTGATCTGCCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCATGAGCCACCGCGCCCGGCCTCCTCTCTGCATTTCAAGGTGTTGAGGGTGGAGTGGTTCATACAACTGACCCTTGGGGAAAAAATAAAGCATCAACTCTTGTCTTCCCTTTGTTCTTGCTGTAGTTTTCAGTGCCCATCAGCCCACATGTGCCCTGCCCTTATACCTTCACCTGAGCCAGTCCCCTGGACCCCAACATTCTTGACAAGAAATCAACCTGAATAGGCCCCACAAGTCACCTTGCTCAACTGCTATCGCAAATGGGAAACTCGAAGCCCCCAGAAGCAGTGATGGGGAGGGGTCCTGCTCTCTCCCAATACCCCAACTTCCCTTACGGCTCACCTCCCATGGCTGTCCTTGTGGAAGTCCAGTGAAAATCCAAACTGGCTGCCATTGGGGCCTGCATAGAAGGTGAGCTGCACTGGGTCCAGGTTCAAGGCCAGGCTGGAGGGGCAGCACAAGGTCCCAAGAGCAGCAGCACCCACTCCAGAAGCCAGAGGGCTTGCAGTGGACACAAAGCTCTGGCCATCTTCCTTCTTCCACAACCTCCCAGGCAGGAATGGGCCAGCTCCTCCTCCTTCCCTTCAGATTCCTCCACAGGAAGTCTTTTCTTATCAAACTGGAACCCCAAGTAACTTGCTGAGCAACGGGCAGAGCAAAGGGCTATAGCCCCTGGACTCATGGTGGCTAGAATTGCCAGGAAGTGGGTGAGGCCACCCAGAGGGTGGATGCTCATGGCTGAAAGCCATGACTCCTCCCCTTTCCTGAGAATAGTTTATTACCATGTCCTATTGGTTCTGCCTATCAATGATGTCTCTTGAATCTTTACCCCATCTCTACTACCACCGTGCTAGTCCAAGCCACCATCACTTTCTGCTTGGGATAGCGTGATTGTGAACTGGTCCATACTTGTCTACTCTAGCCTACAGTTCTAATCTCCTCCCTTCCCCCATCTGGCTGTACAGCTGTGGTGCTTTGTGACTTGGCCACAGGTCGGGGAAGGAGAAGGAAGCTGCTGCCCCCGATAAAACCTGAGGCTTCTGTATCTTTTTGGATATGGCATTTACCCACTTCCTCCTTCTAGGACCTTGGGCGGCCTCAACCAGCCATATTGGTGCAGCAGCTTCCTCACTCCTCCTCCGTCTTGAGCCAAGCTTTAGTGTGGCCACAGCAGTGCAGTCAGTGCTGGGGACAGGGTGGTGAATGGACCTTGGTCTAGGTGGCAAGGAGATTGGGGATAAAGTGGAGTTATTCCAGGGAATTTTGACTCACAGTTTCTGAGATTATGCATTAGCTGTTCAGTTGAAGGTAGGCCCTCAATCCTTTTTGGGTGATGGAGCTCTTTAACCATTAAGACTTGATTCTGGTTGGGGGCTTTGCCTAGGGGAGCCTTCCCTGACTCCTCAGGCTGGCCGCGTGGGCTAACACACGTAGGCACAGCATTGAGCACACTGTTTACTCTTGGTCCGTTCACAGGATTGTGTAAATGAGTCCCTTGGGAGCAAGGCTCCTTGCTACAGCCCTAGAGACTACCCAAGAGTCCAATGTGTAGTACGTGTATTGCTGAAAGACTGGATGGAAACACACACTAAGGATGGAAGATGCAAACATAGGGTGACAAAGTGAAGGGATGAGTTTTGAGCAGAAAGGCAAAGTCATTTTCTCTCGGTAAGCGGAAGAGGAGGAGTGCCAAGTCTTACTGGCACTCATGCCTTCCCAAAAAAGCAGGTTCTCAGGAAGATTTAAGAGGTCCGCTAGGGGTAACCATAGCCACATTTTCCTTTTGATTTCTATTTTCTGATCAAACTTAACCATTGCCGTATCCTGCTCAACCACCCTGTACCATTTTGAAGTCCCCTCGTAATTTACTACCTCAGCCTAGAGTTAAGAATCTTATCCTTTATAGGACAGGAAGCTAAAAGCCTGAACTTTGGTCTGGGCCTTCTTCATTGCTGAGTTCCCAGTGTCAAGTACATGGGAGGCGTGTAATTAATGTATTTGCTTGAACGAATACTTAACCCAGTCCTCTACTTACCTTCTATCCTCCCACTGTCCTCAGGTGAGTGATTGCTGTATTACTGGTGTATTCTGTGAGGCCAAATATGAACTTACATTTCACTCAAGTTTTCAATAAGTATTTACTCTGTTCAAGGCACTGTGTTGATAAAGGATACAAAGATAACCATTAGGCCAGGTATAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCTGAGGCAGGAGGATGGCTTGAGCTCAGGCATTTAAGACCAGCCTAGGCAATACAGTGAGACCTCGTCTCTATTTTAAAATTATAAAAAATAAAATATTTTAAAAACTCCAAAGATAGCCATCAAGGAGACTTAACAAACAGCCCAGAAAGAGTTAAGACATGAACACACATAACTGCAGCAGAGAGACAGTCAAGCATGCCTTGAAAAATACACAGATTATCAAAGTCGTATATCATTGTTACTCATAACN | pathogenic | 277,066 |
Does the variant impacting FZD2 (frizzled class receptor 2) on chromosome 17, position 44557720, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | benign | AAAGGCAAATTCCCCAGGATGTAATAAGGAACATTTTCAAGTTGTAAGAAACCGGAACATCTTTATATCATTCATTCGATCAGGAAAAAAAAATTTTTTTTTGAATCCTGTCAAACCTGGATCCCTTTGTATCCATCTACTTAGAATATTTTTTCCTTCTCCCTACTCCTTTCCTCTTTTTGTTATTTTTCTTCTTCTGCTGTTGTTGTTTAAAACAATTCTTTTCTATATTGGAGCAAGAAACATTTCACCAGACTGTGAGGATTTGGCCCATACTGTGAAGCAAAGGGGCTTTCTAAACTCAATTTTCTTTCTTCTTTTTAAGTCCCCCCTTTCCCCTGTCCCTCGGGAGAGACAACAGAAAATAATTGATCCATCATCCAGTATCAGGCCCAGGAGATTTACATGCAAATTCCTCCTCGACCCCTTTCCAAATTTAAAATCCTAGAAGGGAAAAGAAAAATTCTAAAAGTAGCAGGAACCCTGCTGGCCACACCCCACCCCTTACCAGGTGAGAGATGTGGAGGGGATAATTCACCACAACCCCCCAGTTTCCTCCCGCGTCACACACGCCACCCCTCTCTGGTGTGGAACCACTTAAGATTTGGGTAAAACTCCCCTCTCGCCCTGGAGACGGGATCTGGAAGCTTTTAGGGGGCGGAGGTAGAGGTGGGGAGGCAGAAGGAAAATTCCCTCAAACGTTCGTCAGGCCTAAGAGAGTCGTCCCTTCACTCAAAATTGCCCGTCACCCCCCGCCCCCCACCATTAACTTTCGATTAAGACCTCCTCCTTAGGGCAACTAAACTTTACTTTGCACAATTAAGATTTGCCGCAGAAGAAGCGGGAGGGAGAAGCCGCAGCTCCGGGCCATTCTCCTTTCCCTCGCTCCCTCCAAGCCCCCCGCCCCAACCCTCCAGCTCCGGGCCTCCGAGTTCCTGAGTTTTCTCACTTTGAGGTGCCACCGAACACAAAGAACCATAATGGGCTCCTTTGTGTTGGCTACGGGGCAATTACGCCTCGGAGTCCTGGTCCCTTTAAGAGTCTCTTAAAGAGACAGGATCCCATTTTTCAGAGGGTTTTTTAAGGGTGTGTGGAGGGGGAGGGCGAGGGATCTACGTGTAAAGTGAAGTGAAACTTTCGCCTGGGCTCCAGAAAGAGCGGACAGAAAAGGTCTTTGTAAATTGTTAGTTTTTTTAAAGTCTGTTTTAATTTTTAAATTTGAGATTTTTCACTCGATTTGAAAAATTGGACTAGGAATAGGTGGGGTTCGAGGATCGGGGGCGGGGGCAAGGGTTTAAAGAGTCCCCACCCGGCAGAGCACCTCGGCCCGGGAAGAGGAGTGAGCCAGGGTCGAGTAGTGTCCCCCGATCTCGCCGCGGCAACTCCGGAGAAATCCCGGGCTGGGCAAACAGCCCTTAATATAATAATAGCTTGTCTCTTTAAAAAGCAAAAGGGGGGGAAAGTTTTGTTGGCATCTGGTTTCTGATCTCATTATGTTGTGGTCGACCAATCCAGCCCTCGGGCCTGGTCCTCGGGTTTAAATCTGATTGGCCGAGAGCACATTTTGGGTTGGTGCTTAGAGCTCGACGGGGCGGTTTCAAGGATCCCTTTTTTGGGGGGCTGAGGAGAGGGCGGGGCCGCCAGCGGGGGCCCCCTTGAAACCGACTAATTGGGATCGGAGAGGCCGAGGTGAGGGCTGGAGGAGGCACAAAGAAGTCGCTGGGTGCAGAAGGGAGGGGAGAGGGGGAGCTGAGAGGCGAGAGGAGGAGGAAGAGGAGAGAGGGCAGCAGCGCGCGGTGTCTCCGGCTGCTCAGTCCGACCGCGGCAAGCAAGCGGGCAGGCGCACCGCCCCCTCCCCCGCCCGGCCTCCCCAACTCTGCGGCCGCGAGTAAAGTTTGCAAAGAGGCGCGGGAGGCGGCAGCCGCAGCGAGGAGGCGGCGGGGAAGAAGCGCAGTCTCCGGGTTGGGGGCGGGGGCGGGGGGGGCGCCAAGGAGCCGGGTGGGGGGCGGCGGCCAGCATGCGGCCCCGCAGCGCCCTGCCCCGCCTGCTGCTGCCGCTGCTGCTGCTGCCCGCCGCCGGGCCGGCCCAGTTCCACGGGGAGAAGGGCATCTCCATCCCGGACCACGGCTTCTGCCAGCCCATCTCCATCCCGCTGTGCACGGACATCGCCTACAACCAGACCATCATGCCCAACCTTCTGGGCCACACGAACCAGGAGGACGCAGGCCTAGAGGTGCACCAGTTCTATCCGCTGGTGAAGGTGCAGTGCTCGCCCGAACTGCGCTTCTTCCTGTGCTCCATGTACGCACCCGTGTGCACCGTGCTGGAACAGGCCATCCCGCCGTGCCGCTCTATCTGTGAGCGCGCGCGCCAGGGCTGCGAAGCCCTCATGAACAAGTTCGGTTTTCAGTGGCCCGAGCGCCTGCGCTGCGAGCACTTCCCGCGCCACGGCGCCGAGCAGATCTGCGTCGGCCAGAACCACTCCGAGGACGGAGCTCCCGCGCTACTCACCACCGCGCCGCCGCCGGGACTGCAGCCGGGTGCCGGGGGCACCCCGGGTGGCCCGGGCGGCGGCGGCGCTCCCCCGCGCTACGCCACGCTGGAGCACCCCTTCCACTGCCCGCGCGTCCTCAAGGTGCCATCCTATCTCAGCTACAAGTTTCTGGGCGAGCGTGATTGTGCTGCGCCCTGCGAACCTGCGCGGCCCGATGGTTCCATGTTCTTCTCACAGGAGGAGACGCGTTTCGCGCGCCTCTGGATCCTCACCTGGTCGGTGCTGTGCTGCGCTTCCACCTTCTTCACTGTCACCACGTACTTGGTAGACATGCAGCGCTTCCGCTACCCAGAGCGGCCTATCATTTTTCTGTCGGGCTGCTACACCATGGTGTCGGTGGCCTACATCGCGGGCTTCGTGCTCCAGGAGCGCGTGGTGTGCAACGAGCGCTTCTCCGAGGACGGTTACCGCACGGTGGTGCAGGGCACCAAGAAGGAGGGCTGCACCATCCTCTTCATGATGCTCTACTTCTTCAGCATGGCCAGCTCCATCTGGTGGGTCATCCTGTCGCTCACCTGGTTCCTGGCAGCCGGCATGAAGTGGGGCCACGAGGCCATCGAGGCCAACTCTCAGTACTTCCACCTGGCCGCCTGGGCCGTGCCGGCCGTCAAGACCATCACCATCCTGGCCATGGGCCAGATCGACGGCGACCTGCTGAGCGGCGTGTGCTTCGTAGGCCTCAACAGCCTGGACCCGCTGCGGGGCTTCGTGCTAGCGCCGCTCTTCGTGTACCTGTTCATCGGCACGTCCTTCCTCCTGGCCGGCTTCGTGTCGCTCTTCCGCATCCGCACCATCATGAAGCACGACGGCACCAAGACCGAAAAGCTGGAGCGGCTCATGGTGCGCATCGGCGTCTTCTCCGTGCTCTACACAGTGCCCGCCACCATCGTCATCGCTTGCTACTTCTACGAGCAGGCCTTCCGCGAGCACTGGGAGCGCTCGTGGGTGAGCCAGCACTGCAAGAGCCTGGCCATCCCGTGCCCGGCGCACTACACGCCGCGCATGTCGCCCGACTTCACGGTCTACATGATCAAATACCTCATGACGCTCATCGTGGGCATCACGTCGGGCTTCTGGATCTGGTCGGGCAAGACGCTGCACTCGTGGAGGAAGTTCTACACTCGCCTCACCAACAGCCGACACGGTGAGACCACCGTGTGAGGGACGCCCCCAGGCCGGAACCGCGCGGCGCTTTCCTCCGCCCGGGGTGGGGCCCCTACAGACTCCGTATTTTATTTTTTTAAATAAAAAACGATCGAAACCATTTCACTTTTAGGTTGCTTTTTAAAAGAGAACTCTCTGCCCAACACCCCCACAAGGTTTGTAATTAAAACTGTAAATAGTCTTTGTAAATTTAATTATATATATTTTCTATTTAAAAGAAAAAAGGAGAAAAAAAAACAGGGGTGTGGGCGCCAGGACTGAAGAATGAGGTGTGTGTGTGTTGGGGAGTGTAGTTGGGGGGAGGGTTCTCTTTCTTAAGTGCCCTTCAAAACCCGCCCCACTTTTGGAGTTTTTTGGTGATATGGCAGGGCTGGGCCT | AAAGGCAAATTCCCCAGGATGTAATAAGGAACATTTTCAAGTTGTAAGAAACCGGAACATCTTTATATCATTCATTCGATCAGGAAAAAAAAATTTTTTTTTGAATCCTGTCAAACCTGGATCCCTTTGTATCCATCTACTTAGAATATTTTTTCCTTCTCCCTACTCCTTTCCTCTTTTTGTTATTTTTCTTCTTCTGCTGTTGTTGTTTAAAACAATTCTTTTCTATATTGGAGCAAGAAACATTTCACCAGACTGTGAGGATTTGGCCCATACTGTGAAGCAAAGGGGCTTTCTAAACTCAATTTTCTTTCTTCTTTTTAAGTCCCCCCTTTCCCCTGTCCCTCGGGAGAGACAACAGAAAATAATTGATCCATCATCCAGTATCAGGCCCAGGAGATTTACATGCAAATTCCTCCTCGACCCCTTTCCAAATTTAAAATCCTAGAAGGGAAAAGAAAAATTCTAAAAGTAGCAGGAACCCTGCTGGCCACACCCCACCCCTTACCAGGTGAGAGATGTGGAGGGGATAATTCACCACAACCCCCCAGTTTCCTCCCGCGTCACACACGCCACCCCTCTCTGGTGTGGAACCACTTAAGATTTGGGTAAAACTCCCCTCTCGCCCTGGAGACGGGATCTGGAAGCTTTTAGGGGGCGGAGGTAGAGGTGGGGAGGCAGAAGGAAAATTCCCTCAAACGTTCGTCAGGCCTAAGAGAGTCGTCCCTTCACTCAAAATTGCCCGTCACCCCCCGCCCCCCACCATTAACTTTCGATTAAGACCTCCTCCTTAGGGCAACTAAACTTTACTTTGCACAATTAAGATTTGCCGCAGAAGAAGCGGGAGGGAGAAGCCGCAGCTCCGGGCCATTCTCCTTTCCCTCGCTCCCTCCAAGCCCCCCGCCCCAACCCTCCAGCTCCGGGCCTCCGAGTTCCTGAGTTTTCTCACTTTGAGGTGCCACCGAACACAAAGAACCATAATGGGCTCCTTTGTGTTGGCTACGGGGCAATTACGCCTCGGAGTCCTGGTCCCTTTAAGAGTCTCTTAAAGAGACAGGATCCCATTTTTCAGAGGGTTTTTTAAGGGTGTGTGGAGGGGGAGGGCGAGGGATCTACGTGTAAAGTGAAGTGAAACTTTCGCCTGGGCTCCAGAAAGAGCGGACAGAAAAGGTCTTTGTAAATTGTTAGTTTTTTTAAAGTCTGTTTTAATTTTTAAATTTGAGATTTTTCACTCGATTTGAAAAATTGGACTAGGAATAGGTGGGGTTCGAGGATCGGGGGCGGGGGCAAGGGTTTAAAGAGTCCCCACCCGGCAGAGCACCTCGGCCCGGGAAGAGGAGTGAGCCAGGGTCGAGTAGTGTCCCCCGATCTCGCCGCGGCAACTCCGGAGAAATCCCGGGCTGGGCAAACAGCCCTTAATATAATAATAGCTTGTCTCTTTAAAAAGCAAAAGGGGGGGAAAGTTTTGTTGGCATCTGGTTTCTGATCTCATTATGTTGTGGTCGACCAATCCAGCCCTCGGGCCTGGTCCTCGGGTTTAAATCTGATTGGCCGAGAGCACATTTTGGGTTGGTGCTTAGAGCTCGACGGGGCGGTTTCAAGGATCCCTTTTTTGGGGGGCTGAGGAGAGGGCGGGGCCGCCAGCGGGGGCCCCCTTGAAACCGACTAATTGGGATCGGAGAGGCCGAGGTGAGGGCTGGAGGAGGCACAAAGAAGTCGCTGGGTGCAGAAGGGAGGGGAGAGGGGGAGCTGAGAGGCGAGAGGAGGAGGAAGAGGAGAGAGGGCAGCAGCGCGCGGTGTCTCCGGCTGCTCAGTCCGACCGCGGCAAGCAAGCGGGCAGGCGCACCGCCCCCTCCCCCGCCCGGCCTCCCCAACTCTGCGGCCGCGAGTAAAGTTTGCAAAGAGGCGCGGGAGGCGGCAGCCGCAGCGAGGAGGCGGCGGGGAAGAAGCGCAGTCTCCGGGTTGGGGGCGGGGGCGGGGGGGGCGCCAAGGAGCCGGGTGGGGGGCGGCGGCCAGCATGCGGCCCCGCAGCGCCCTGCCCCGCCTGCTGATGCCGCTGCCGCTGCTGCTGCTGCCCGCCGCCGGGCCGGCCCAGTTCCACGGGGAGAAGGGCATCTCCATCCCGGACCACGGCTTCTGCCAGCCCATCTCCATCCCGCTGTGCACGGACATCGCCTACAACCAGACCATCATGCCCAACCTTCTGGGCCACACGAACCAGGAGGACGCAGGCCTAGAGGTGCACCAGTTCTATCCGCTGGTGAAGGTGCAGTGCTCGCCCGAACTGCGCTTCTTCCTGTGCTCCATGTACGCACCCGTGTGCACCGTGCTGGAACAGGCCATCCCGCCGTGCCGCTCTATCTGTGAGCGCGCGCGCCAGGGCTGCGAAGCCCTCATGAACAAGTTCGGTTTTCAGTGGCCCGAGCGCCTGCGCTGCGAGCACTTCCCGCGCCACGGCGCCGAGCAGATCTGCGTCGGCCAGAACCACTCCGAGGACGGAGCTCCCGCGCTACTCACCACCGCGCCGCCGCCGGGACTGCAGCCGGGTGCCGGGGGCACCCCGGGTGGCCCGGGCGGCGGCGGCGCTCCCCCGCGCTACGCCACGCTGGAGCACCCCTTCCACTGCCCGCGCGTCCTCAAGGTGCCATCCTATCTCAGCTACAAGTTTCTGGGCGAGCGTGATTGTGCTGCGCCCTGCGAACCTGCGCGGCCCGATGGTTCCATGTTCTTCTCACAGGAGGAGACGCGTTTCGCGCGCCTCTGGATCCTCACCTGGTCGGTGCTGTGCTGCGCTTCCACCTTCTTCACTGTCACCACGTACTTGGTAGACATGCAGCGCTTCCGCTACCCAGAGCGGCCTATCATTTTTCTGTCGGGCTGCTACACCATGGTGTCGGTGGCCTACATCGCGGGCTTCGTGCTCCAGGAGCGCGTGGTGTGCAACGAGCGCTTCTCCGAGGACGGTTACCGCACGGTGGTGCAGGGCACCAAGAAGGAGGGCTGCACCATCCTCTTCATGATGCTCTACTTCTTCAGCATGGCCAGCTCCATCTGGTGGGTCATCCTGTCGCTCACCTGGTTCCTGGCAGCCGGCATGAAGTGGGGCCACGAGGCCATCGAGGCCAACTCTCAGTACTTCCACCTGGCCGCCTGGGCCGTGCCGGCCGTCAAGACCATCACCATCCTGGCCATGGGCCAGATCGACGGCGACCTGCTGAGCGGCGTGTGCTTCGTAGGCCTCAACAGCCTGGACCCGCTGCGGGGCTTCGTGCTAGCGCCGCTCTTCGTGTACCTGTTCATCGGCACGTCCTTCCTCCTGGCCGGCTTCGTGTCGCTCTTCCGCATCCGCACCATCATGAAGCACGACGGCACCAAGACCGAAAAGCTGGAGCGGCTCATGGTGCGCATCGGCGTCTTCTCCGTGCTCTACACAGTGCCCGCCACCATCGTCATCGCTTGCTACTTCTACGAGCAGGCCTTCCGCGAGCACTGGGAGCGCTCGTGGGTGAGCCAGCACTGCAAGAGCCTGGCCATCCCGTGCCCGGCGCACTACACGCCGCGCATGTCGCCCGACTTCACGGTCTACATGATCAAATACCTCATGACGCTCATCGTGGGCATCACGTCGGGCTTCTGGATCTGGTCGGGCAAGACGCTGCACTCGTGGAGGAAGTTCTACACTCGCCTCACCAACAGCCGACACGGTGAGACCACCGTGTGAGGGACGCCCCCAGGCCGGAACCGCGCGGCGCTTTCCTCCGCCCGGGGTGGGGCCCCTACAGACTCCGTATTTTATTTTTTTAAATAAAAAACGATCGAAACCATTTCACTTTTAGGTTGCTTTTTAAAAGAGAACTCTCTGCCCAACACCCCCACAAGGTTTGTAATTAAAACTGTAAATAGTCTTTGTAAATTTAATTATATATATTTTCTATTTAAAAGAAAAAAGGAGAAAAAAAAACAGGGGTGTGGGCGCCAGGACTGAAGAATGAGGTGTGTGTGTGTTGGGGAGTGTAGTTGGGGGGAGGGTTCTCTTTCTTAAGTGCCCTTCAAAACCCGCCCCACTTTTGGAGTTTTTTGGTGATATGGCAGGGCT | benign | 277,073 |
Considering the variant on chromosome 17, location 44852422, involving gene EFTUD2 (elongation factor Tu GTP binding domain containing 2), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | CACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGGAGGTGGGCGTTCTAACTGAATAAGCAAGGCCCATGGCAGAGGTCAGAAGTTAAGCATATGTTCTTAGTGTTTGCTTCAGGCCATGCTCAGACTTAGAGCTTTCCTAGAAGTTTATTTCCTTCTTCTGCACATATTTACATTTTTGTGGATGTAGAATAAATTCCAGAATTGTACATTTGGTCCATGAAGCCCAATCAGGGTCTATAAACCATTCCAATCTCATCATCCTCTTGATATCTCTTCTCAAATACGTCCAACGCCAAACCCTTCTCAGAAATGAGGAGCAAATGACAGTTTAGAAATGACTTAAATTTCCATTTCCAGGCTACACCACCAGGATAAGGAAGGAAAAGGGAAGAAGCTGGCCCAGGACTTGGGATGGTCCTGTGTACCCCAAGCTGCTTCTCCTGCCGAATCCTAAAGATGGTGAGCCCATCCCACTCATATGCCTGGCTGCAAGGACCCTCGAGGACTGGGGTGGGGGAGTGCTGGTGGACTTACATTCATCACAGAGGGGGCCCTCCCTGGTTCCCCACTGGAAACCTTGAACGATGCTGTCCTTCACTGAACCAAGAAGAGCCTTGTCCACCTATAGAGAAACATGAGGCCTCCTTAGCAGTCGCCCTGGCAACGGCTGAAGCATTTAGAGGGAGAAGACAGATGTGCCTGTAAGGGGATACTGTCCTTCACCAGAGGACACAA | CACAGGATGCTGGAGAGAAGTAGGACTCCTATAGGAGCCGGGGCTGTCCAACTCCCCTAACTCAATCCCTGGTACATTCCTAATAAAGCAGTTTTGAGGAAAATCAACAGACTCTTTTTCACTGGGGGAGAACAGAGTAAGGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGGAGGTGGGCGTTCTAACTGAATAAGCAAGGCCCATGGCAGAGGTCAGAAGTTAAGCATATGTTCTTAGTGTTTGCTTCAGGCCATGCTCAGACTTAGAGCTTTCCTAGAAGTTTATTTCCTTCTTCTGCACATATTTACATTTTTGTGGATGTAGAATAAATTCCAGAATTGTACATTTGGTCCATGAAGCCCAATCAGGGTCTATAAACCATTCCAATCTCATCATCCTCTTGATATCTCTTCTCAAATACGTCCAACGCCAAACCCTTCTCAGAAATGAGGAGCAAATGACAGTTTAGAAATGACTTAAATTTCCATTTCCAGGCTACACCACCAGGATAAGGAAGGAAAAGGGAAGAAGCTGGCCCAGGACTTGGGATGGTCCTGTGTACCCCAAGCTGCTTCTCCTGCCGAATCCTAAAGATGGTGAGCCCATCCCACTCATATGCCTGGCTGCAAGGACCCTCGAGGACTGGGGTGGGGGAGTGCTGGTGGACTTACATTCATCACAGAGGGGGCCCTCCCTGGTTCCCCACTGGAAACCTTGAACGATGCTGTCCTTCACTGAACCAAGAAGAGCCTTGTCCACCTATAGAGAAACATGAGGCCTCCTTAGCAGTCGCCCTGGCAACGGCTGAAGCATTTAGAGGGAGAAGACAGATGTGCCTGTAAGGGGATACTGTCCTTCACCAGAGGACACAANNNN | pathogenic | 277,089 |
Mutation at chromosome 17, position 44852562, within EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGGAGGTGGGCGTTCTAACTGAATAAGCAAGGCCCATGGCAGAGGTCAGAAGTTAAGCATATGTTCTTAGTGTTTGCTTCAGGCCATGCTCAGACTTAGAGCTTTCCTAGAAGTTTATTTCCTTCTTCTGCACATATTTACATTTTTGTGGATGTAGAATAAATTCCAGAATTGTACATTTGGTCCATGAAGCCCAATCAGGGTCTATAAACCATTCCAATCTCATCATCCTCTTGATATCTCTTCTCAAATACGTCCAACGCCAAACCCTTCTCAGAAATGAGGAGCAAATGACAGTTTAGAAATGACTTAAATTTCCATTTCCAGGCTACACCACCAGGATAAGGAAGGAAAAGGGAAGAAGCTGGCCCAGGACTTGGGATGGTCCTGTGTACCCCAAGCTGCTTCTCCTGCCGAATCCTAAAGATGGTGAGCCCATCCCACTCATATGCCTGGCTGCAAGGACCCTCGAGGACTGGGGTGGGGGAGTGCTGGTGGACTTACATTCATCACAGAGGGGGCCCTCCCTGGTTCCCCACTGGAAACCTTGAACGATGCTGTCCTTCACTGAACCAAGAAGAGCCTTGTCCACCTATAGAGAAACATGAGGCCTCCTTAGCAGTCGCCCTGGCAACGGCTGAAGCATTTAGAGGGAGAAGACAGATGTGCCTGTAAGGGGATACTGTCCTTCACCAGAGGACACAAGATACTTTTGGGAAAAGAACACTTTGTAGTTTCTTCCACTCCAGAGGTAAGAGACCGCCACCCAGTTCCCATCAGTTCTGCTGTACCTCAGAGGGCAGAGTATCATCCACCAGAATGTTGGGGCCAGTCGCATCAGGGCC | GGGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGGAGGTGGGCGTTCTAACTGAATAAGCAAGGCCCATGGCAGAGGTCAGAAGTTAAGCATATGTTCTTAGTGTTTGCTTCAGGCCATGCTCAGACTTAGAGCTTTCCTAGAAGTTTATTTCCTTCTTCTGCACATATTTACATTTTTGTGGATGTAGAATAAATTCCAGAATTGTACATTTGGTCCATGAAGCCCAATCAGGGTCTATAAACCATTCCAATCTCATCATCCTCTTGATATCTCTTCTCAAATACGTCCAACGCCAAACCCTTCTCAGAAATGAGGAGCAAATGACAGTTTAGAAATGACTTAAATTTCCATTTCCAGGCTACACCACCAGGATAAGGAAGGAAAAGGGAAGAAGCTGGCCCAGGACTTGGGATGGTCCTGTGTACCCCAAGCTGCTTCTCCTGCCGAATCCTAAAGATGGTGAGCCCATCCCACTCATATGCCTGGCTGCAAGGACCCTCGAGGACTGGGGTGGGGGAGTGCTGGTGGACTTACATTCATCACAGAGGGGGCCCTCCCTGGTTCCCCACTGGAAACCTTGAACGATGCTGTCCTTCACTGAACCAAGAAGAGCCTTGTCCACCTATAGAGAAACATGAGGCCTCCTTAGCAGTCGCCCTGGCAACGGCTGAAGCATTTAGAGGGAGAAGACAGATGTGCCTGTAAGGGGATACTGTCCTTCACCAGAGGACACAAGATACTTTTGGGAAAAGAACACTTTGTAGTTTCTTCCACTCCAGAGGTAAGAGACCGCCACCCAGTTCCCATCAGTTCTGCTGTACCTCAGAGGGCAGAGTATCATCCACCAGAATGTTGGGGCCAGTCGCATCAGGGCCNN | pathogenic | 277,093 |
Evaluate this variant at chromosome 17, position 44852563, gene EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCTGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGGAGGTGGGCGTTCTAACTGAATAAGCAAGGCCCATGGCAGAGGTCAGAAGTTAAGCATATGTTCTTAGTGTTTGCTTCAGGCCATGCTCAGACTTAGAGCTTTCCTAGAAGTTTATTTCCTTCTTCTGCACATATTTACATTTTTGTGGATGTAGAATAAATTCCAGAATTGTACATTTGGTCCATGAAGCCCAATCAGGGTCTATAAACCATTCCAATCTCATCATCCTCTTGATATCTCTTCTCAAATACGTCCAACGCCAAACCCTTCTCAGAAATGAGGAGCAAATGACAGTTTAGAAATGACTTAAATTTCCATTTCCAGGCTACACCACCAGGATAAGGAAGGAAAAGGGAAGAAGCTGGCCCAGGACTTGGGATGGTCCTGTGTACCCCAAGCTGCTTCTCCTGCCGAATCCTAAAGATGGTGAGCCCATCCCACTCATATGCCTGGCTGCAAGGACCCTCGAGGACTGGGGTGGGGGAGTGCTGGTGGACTTACATTCATCACAGAGGGGGCCCTCCCTGGTTCCCCACTGGAAACCTTGAACGATGCTGTCCTTCACTGAACCAAGAAGAGCCTTGTCCACCTATAGAGAAACATGAGGCCTCCTTAGCAGTCGCCCTGGCAACGGCTGAAGCATTTAGAGGGAGAAGACAGATGTGCCTGTAAGGGGATACTGTCCTTCACCAGAGGACACAAGATACTTTTGGGAAAAGAACACTTTGTAGTTTCTTCCACTCCAGAGGTAAGAGACCGCCACCCAGTTCCCATCAGTTCTGCTGTACCTCAGAGGGCAGAGTATCATCCACCAGAATGTTGGGGCCAGTCGCATCAGGGCCA | GGACTGGTGGTAGCTGGGGAGAGGACTTGGAGTAAATGGCTGGAAATCAAAGTGCTCTGGCCCCCTACTCCAGGGCAAGGAAGATTCTTAGGGGAGGCAGCAGTTTCCTGAGGAGGTGGTGGGGTAGACTTCTGATCGCAGGAACCCAACAACTCCCAAGCCATCTTAGGTTCCACCCAGAAGCAGCATGGAGTGGGAGCAAGGGGGCAATAATGGGGCCTTGGCGCTCATGGGAACACTGAATTAAAAGGCAGGCGGCTTCCCTGGGGACCCAGGCAGGAAGGAGGCTGCAGCTGGAAGCAGAGGCAGTGAAGCCTCTTGGGAGATGACATATATTCAGAATGTAAGCACCAGACGGGGCAGGGGAGACGAGGATGAAAGGAGCAGAGCAAGACAGAGGTCAGAATGTTCTGTTCACTTGCAAACCATGGCTAAGGTCAAACTTGTAGAAAATAAAATTCCATGTAAATCCCAAAGATAGGGCCCCTTGGGGTTTCATCCCCTTCTCTTTCTGTGAGCCCAAGCTCCTCTCTTTTCCTTGGGAATGGAGCCCGGCAGAGGCCACAGAAGGAAGCAGGAGGCCAAATGCTCCTCTCTCACTGGGGCTCTGGGTTGGAGGTTGGTGAGTTGTTCAAGATGGCAACAGCAGCTTCCAGACACTCTCTGACAACACGAAGGCCACGTCATATGAGGTCTCAGCTTCAAGTACAGGAGTTGCAGCCCACTGTAGGGAGCAGGAGCTCCCAGGAGTCCACGCACTCACATGGGGTAATTGAGCACAACATCCTGTTTGGCAAGTTCCAGCAACATAGGATCATCGAAGAATTTGCTGATGCTCACATCTTCACTGAGGCCCTGCAGGGAATGGGGCAAATATAAGAAAGCCCGAGGTGGTCGCAGACTAAGCAAGGAGACTATCCAAGACCTGTGTTCAGTGGGGAGGCTAGTGGTGGCTGGAATGTAGGTGGTGGTGTTTCAGGAGCCCTGCCTTTAGGGTACTATCACATGGGAGGATAAGGCTCTCCTTTCCCAACGAGACTGGGGCCCAGGTTTGGTTGCCTAAGGAGTATACAGATCATATCTCTACATTGGAAAAGTGTCCCTTAGGAAAAGGGGCCAAAAGAAAGAGAGAGAGATCCTGCTTCTGAGAGTCCTGGGGGGTTGAGGGATGGCAACAGGCCCAAGGGAGACATACCTTCCTACGGCGGGTTTTGATCATGAATTCCCGGGCCAGGTGAGGAGCTGGCTGTGGCTCCAAGGGGCGGATGACAATGCTCTTGTCCAGGGGATCACCAGGCACAATCTAAAAGGCAAAGGAATTTCAGATGGCCCAGGCAGAATTCCCAGAAGATTCAGGCCCAGAAGCAGGACTCTTCTTATTTATTTTATTCCTAAATTTATTACTTATTATTATTTTTTTGAGATGGAGTTTCGCTCTTGTCTCCCAGGCTGGAGTACAATGGCATGATCTCGGCTCAATGCAACCTCCGCCTCCCGGGTTCAAGCGATTCTCCTACCTCAGCCTCCCAAGTAGCTGGGATTACAGGCATGCACCACCACGCCTAGCTAATTTTATATTTTTAGTACAGATGGGGTTTCTGCATGTTGGTCAAGCTGGTCTCGAACTCCTGACCTCAGGTGACCTGCCCGCCTCAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAACCACCATAGCCGGCCCTATTATTTCTTTTTTTTTTTTTAAACTGAGAGACACAGATTCAAGTTGCCCTGAATATATGCTCCCCAGAGGAGGACTCTTCTCCAGGATGCTGTACACCTCACTTAGGGCTTGGAGAGGGATCAGGACAGAAGGGGATGAGGCTTGCAGAGGTGGGAAGCCAAGTCCGCCAGCCTGCATTGCTTTCTCACCTGCCAGTGGTGGAAGACAGACAGAGAAAAGGCTTGTCCCTGGGTGTGAGTCCGGAGATCAGTCTCAAAGCCAAAAGAGTCGATGGCCGGGATAAAAGCTTTGATGGTGTACAGAGGGGAGCCTGGGATGGGTGCATCCTGAGTCACGTGCCCCCGAGACAGAAAAACAAAGGCTGAGCCTCTAGTCAAACATAGGCCAAAAGCCAAGAAGCAATCCAGCATTTGCTGTCCCCCAAATGCATTCCAGCCCAGAGTTACCATCAAAGAAAGAGTAACCAAGAATGTTCTACAAAAAGCAGAAAAGGCTCAGGGCTCTCAGTATAATTCCCTGTGGAAGTCAAAGTGGCAGCAACCTCTGGGCAGAGGACAGGAGTGGGATGGTGAAGGGACAAGGGCCCAAAGACATTCCCATCACTGACTTGCCTCAGCACTGCCTCCAACAGCTCTGTGAGGAGGGGATCCCAAAAGAAATGTCAATTTTTTTTTTTTGAGACAGAGCCTTGCTCTGTCGCCCAGGCTGGAATGCAGTGGCGCCATCTCGGCTCACTGCAAGCTCCGCCTCCTGGGTTCACGCCATTCTCCTGACTCAGCCTCCCAAGTAGCTGGGACTACAGGCACCCGCCACCACGCCCAGCTAATTTTTTGTATTTTTAGTAGAGACGGGGTTTCACTGTGTTAGCCAGGATGGAGAAATGTCAAATTTTAATCTGCAGAAAAGCGGGGGCTTGCCTCCCTCCGCTCCTACTTCTTTCTGGAAAATCAGCTCTCGGGGTTTCCAGAGAGAGGAGGGTAGAGAAGGCCAACCTCTCTTCCCTGTAGGAGCCGAGGTGACTCTTGTTCTGCTCTTGCTCTCAGCACTCTCCCTAATACGCCTGGGGCCGCTCACCTGCGCCTGGCCAGGACGGTATAAACTGCAGAGACGCAATCTGCAGGGGCCTGGACCTCTACAAAGTAGTAAGGCTCCATCAGACGAGGAGTAGCCTGCAGCAGAGCAAGAAGAAAGGCCCCTCAGCTTGGGGAAGGCTGGGGGCCTATAGTCCCACTTGCTCCTTCACTTAGTCCCCTGTCCAGTGAAGCAGATGGTCCCCTACCGCCCCATTCTCTTACCATGAGGAAGGCAGAGTAGACGACTCTCCTGGCTGTGGGGATGATCTGGCCCCCGCCCCGGTGCAGGGGCTCCTGGGCAACCACCGCATCCAGGATCTTAAACTTGACATTCCGAATCACTGTAAAGGAGGTGGAGGGAGTGACTGGGGAGAGGTTCTGGGCCTGTCATGGGGCCATGGCAGAGTAGCAGTCTCCTGCAACACTGCAGCTGTCTTGCAGTCATGAAAGACATGGTACAGAAATCAAATGGGAGGTGGGCGTTCTAACTGAATAAGCAAGGCCCATGGCAGAGGTCAGAAGTTAAGCATATGTTCTTAGTGTTTGCTTCAGGCCATGCTCAGACTTAGAGCTTTCCTAGAAGTTTATTTCCTTCTTCTGCACATATTTACATTTTTGTGGATGTAGAATAAATTCCAGAATTGTACATTTGGTCCATGAAGCCCAATCAGGGTCTATAAACCATTCCAATCTCATCATCCTCTTGATATCTCTTCTCAAATACGTCCAACGCCAAACCCTTCTCAGAAATGAGGAGCAAATGACAGTTTAGAAATGACTTAAATTTCCATTTCCAGGCTACACCACCAGGATAAGGAAGGAAAAGGGAAGAAGCTGGCCCAGGACTTGGGATGGTCCTGTGTACCCCAAGCTGCTTCTCCTGCCGAATCCTAAAGATGGTGAGCCCATCCCACTCATATGCCTGGCTGCAAGGACCCTCGAGGACTGGGGTGGGGGAGTGCTGGTGGACTTACATTCATCACAGAGGGGGCCCTCCCTGGTTCCCCACTGGAAACCTTGAACGATGCTGTCCTTCACTGAACCAAGAAGAGCCTTGTCCACCTATAGAGAAACATGAGGCCTCCTTAGCAGTCGCCCTGGCAACGGCTGAAGCATTTAGAGGGAGAAGACAGATGTGCCTGTAAGGGGATACTGTCCTTCACCAGAGGACACAAGATACTTTTGGGAAAAGAACACTTTGTAGTTTCTTCCACTCCAGAGGTAAGAGACCGCCACCCAGTTCCCATCAGTTCTGCTGTACCTCAGAGGGCAGAGTATCATCCACCAGAATGTTGGGGCCAGTCGCATCAGGGCCAN | pathogenic | 277,094 |
Regarding the variant at chromosome 17 and position 44862898, affecting gene EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic? If pathogenic, what are the associated illness(es)? | pathogenic; ['Mandibulofacial_dysostosis', 'Mandibulofacial_dysostosis-microcephaly_syndrome'] | CAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTGGCGGCTCACGCTTATAATCCCAGTGCTTTGGGAGGCTGAGGTGGGTGGCTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAAACTATCTCTACTAAAAATACAAAAAATTAGCCAGACATGGTGGTGCACACCTATAACCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGCAATCACGCCATTGCACTCCAGCCTGGCTGACAGAGAGAAAAAAAAAAAAAAAAAAAGGCTGGGAGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATTCTGGCTAATACGGTGAAACCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGCAGAATGGCATGAACCCAGGAGGTGGAGCTTGCAGTAAGCCGAGATCACAGGCACTGCACTCCAGGTTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAGCATCACAGAAAACTTCCACTTTCCCAGCTCTTCAATATTCCACCTTTTGGCATTTAGGGTGGATTTAACAAAAGGGACCACCATTGAGGCAGGGTAGCCACCTTAGGGAACACGAATGCTTTGGTTTAACTTGTCAACTGGGAAACCAAATTCATAAACTGACAAGTAGCCCAGAGGCCCAAGCTAAGTTTGACTGCAGATTGGGATGCTACAAGGGATCCAGCGAAGCCTTCTCTCTTGGTCAAAGAGTAGACAGTGGAGTTGGGGAACAATTTCTTTTGGGAAGAAACACAAAGATTATGACTTAAGGAACACAGGAGAGGAAATGAAAAGAGGATTAAGATGAGTAACAATGGAAATCCTCCTACAAAAGTTCATACAAGCTTCATGCTTTCAAAAGGGCTTTAAGATGGTGTGTGGTGGCTCACACCTGTAATCCAACACTTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAATATAGTGAGACATTGTCTCTACAAAAAATTTAAAAATTAGCCAGACATAGTGGTGTGTGCTTGTAGTTCCAGCTACTCAGGAGGCTGAGGTGGAAGGACTGCTTGAGCCCAGGAGGCGGAGGTCGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGCCTAGGAGACAGAGTGAGACCCTGTCTCAAAACAAACAAATAGGGCTAAAAAAAAAAGTTCACACGAGCCACCCAAAGTGCAAAGGCGAAGCTTCTGGCACTGTTCCAACAGTAGCTGCCTTTGGCCCCAGCAAACCTGGGACAGGAAGAACTTGAAGTCAATAGCCCTGCGGAGGGAGAGCCACTTTATCCCCTCTTGCACAGAGCCTTGCAACTACTTCCAAGGAGGATCACTCCTTCCAGCTCCTTGGGGGCAGCCCCTGGATAGACACCAAGGCATACTCCTGGGGCTCTGGTTGGCAGTACCTGGCCACAGAGATCCAAAGGCGGCCCACGGTGCATATCTGGGAGTCTTCCTCATCCTCCAGGGTGTAGTTCTCCCCCAGTACCTTCACAGGCTGCCCAGCATGAATGGTGCCACTCAGCACCCGGCCAAAGGCGTGAAACTGGACTCCATCATCTGTGCTGTACATCTTAGTAGTGTGGCACATCAGGGGGCCCTGGAAGAGGGGACAGGGTGCAGCTTCAACCACATCTATGCTCCGGGGAAGTACTACTCCCCGCCATCTTCCTTGACAGCAAGGACATGAGCTCTATGAGGAGCTAGAGAAAGATGAGGTAGTCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGCCAGGCAACATGCTGAACACAACCGTAACACTTCCTTAATCTTATTTAAATCTCATAACAACCGCTCACATTTTATTATGCTCGTGTTATAGACCAAGGCCTTGAGGCTCAGGAAATGTGAGTAATGTTCCCAAGGTCATAGCACTAGCGGTGGCAACATCAGGCTTTGCATTCAGGCCTGACTGTGCTCATGGGGATGGGGAGGCAAGGGTGGGAAAGTGGGCATTACTCCTGTGACCAGAAATCAGTATCCCCACACAGGAAGGGGAAAAAAAGACCAGAGAACCGGGGAGCCACATGCCCTTACATCAGGGTCACAGTCACTCATAGCCTCGCCGAGGTCGGAGTCCACACCACCGGTGTAGGTGTGCTCAATCTTGGGCTTGGCGCCCACCTTTGGAGAAGGGATATGCTGCACACACATGTCCACAAAGCCTGTGGATGGAGAAGAGAAAGCCATTAATACATGCCTTCCCAGGGAGCACGAGCAGGAGTTACTGAGCCATTCACAATGGTCAAAAAGCTCAAAGTGCGGGGACTGATTGTTAGCTCTAAAAGCTCTGGCACTATAGATAGTGATAGCCTGCTTCCTGGGAATGTGCTGCTAGAAGATTTGGAGTCACCCTGATGCCAGAAAAGAGCAAGCAGCAGGTATCAGTGGTACATGGTTCCTTGGAACTCAGCTGACAAAAAGTTTAAAGTACATCGATCTATGAACTTTTATTGGCTATACGCATTTACGTGGAACAAAATAAGCACCCCATCTAACATCTACTTAAAACAATTCCCAACCTGACTCCCCTTGAGAAACACTGCATGCATCTCTATTCAATAAGTTACCCCGTTTTCTGAACACATTAATAAACCACATAAGAGGGAACCCCCATGAGCACACTGGGATAGGCCTGTGTGCCTTCAATGGTATCTGGTGTGTCAGATTGATGGGCAGACCAAAATAAGCTATTAAAACTACGCACCTTGGGGGCCCAGACACCTAATTCCCACCGGACTTAGAATCAGAGACTGCTGAGAAGACCCTCAGCCATCACCCTTTCCACTTCCCTGATTTTACAGATAACAAATCAGAGTCATGAAGAATTAGGTGGCTGGCCCAGGGTCATCTCATGGAATGGCCAGGGCAGGATCGAGACAGACTCAGGTGGTTTTTTCAACCAGTCCAGTGTCTTTCTGCTGTATCACGTGCCTTCTGTGTAACTAACCAAGTCTCCCAAGTCCTAGCCTAGTGCTTTTTGCACTATTTCACACTACCCAAGCATCCACCTTCCCGGCTGCCCCCTGGAAAATATACCAGAACCACAGAGCCTGCCTCCCCATCTCATTTACTTGAACACTCCTCCTGGCAGGAAAATGTAATTCCTTTTGGTTCCCAAGATAGAATGTGTGCCATCATCCACTAAGGAAAGCAGCTAGGAAAAACACCAGTGTTCTGCATCTGAATCTGTGGTTTGTTGAAAAGATCCTCAGATTTCTGACCTCCATCGCTGGGTGAGAAAAAATTGCTGTGATACCTGTGGCAGGGCACGAGGATGACAGAGTTAAGGGGCCACGAGCACATTATTACCTGTGAACTCGCCAAA | CAGCCTTCCAAAGTGCTAGGATTACAGGTGTGAGCCACCACATCCAGCCTATTCCACAAAAATTTACTGAGTACTTGCTGCGTGCCAAGAGCAGGGGTGAGCAAAACAGATACATTCTAGCAGGGGAGAGATACAGTAAACAATCATTATCCACACATGTATGTGGTTACAAACTGATGGGCATTATGAAAGAAAAGTACAAGGTATTTCTGTGAGGACATAAGAGGAAAATCTTATTCCAATTGCAGGCTCATGGTAAAAAGCTGCCCAAGGTGTCGACTGTAAGGGGCTAGCAAAAGCATCAAAGAAGGCCGGGTGTGGCGGCTCACGCTTATAATCCCAGTGCTTTGGGAGGCTGAGGTGGGTGGCTGGATCACCTGAGGTCAGGAGTTTGAGACCAGCCTGGCCAACATGGTGAAAACTATCTCTACTAAAAATACAAAAAATTAGCCAGACATGGTGGTGCACACCTATAACCCTGGCTACTTGGGAGGCTGAGGCAGGAGAATCGCTTGAACCCGGGAGGCAGAGGTTGCAGTGAGCCGCAATCACGCCATTGCACTCCAGCCTGGCTGACAGAGAGAAAAAAAAAAAAAAAAAAAGGCTGGGAGCGGTGGCTCACACCTATAATCCCAGCACTTTGGGAGGCTGAGGCAGGTGGATCATGAGGTCAGGAGATCGAGACCATTCTGGCTAATACGGTGAAACCTGTCTCTACTAAAAATACAAAAAAATTAGCTGGGCATGGTGGCGGGCGCCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGCAGAATGGCATGAACCCAGGAGGTGGAGCTTGCAGTAAGCCGAGATCACAGGCACTGCACTCCAGGTTGGGCGACAGAGTGAGACTCCATCTCAAAAAAAAAAGCATCACAGAAAACTTCCACTTTCCCAGCTCTTCAATATTCCACCTTTTGGCATTTAGGGTGGATTTAACAAAAGGGACCACCATTGAGGCAGGGTAGCCACCTTAGGGAACACGAATGCTTTGGTTTAACTTGTCAACTGGGAAACCAAATTCATAAACTGACAAGTAGCCCAGAGGCCCAAGCTAAGTTTGACTGCAGATTGGGATGCTACAAGGGATCCAGCGAAGCCTTCTCTCTTGGTCAAAGAGTAGACAGTGGAGTTGGGGAACAATTTCTTTTGGGAAGAAACACAAAGATTATGACTTAAGGAACACAGGAGAGGAAATGAAAAGAGGATTAAGATGAGTAACAATGGAAATCCTCCTACAAAAGTTCATACAAGCTTCATGCTTTCAAAAGGGCTTTAAGATGGTGTGTGGTGGCTCACACCTGTAATCCAACACTTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAATATAGTGAGACATTGTCTCTACAAAAAATTTAAAAATTAGCCAGACATAGTGGTGTGTGCTTGTAGTTCCAGCTACTCAGGAGGCTGAGGTGGAAGGACTGCTTGAGCCCAGGAGGCGGAGGTCGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGCCTAGGAGACAGAGTGAGACCCTGTCTCAAAACAAACAAATAGGGCTAAAAAAAAAAGTTCACACGAGCCACCCAAAGTGCAAAGGCGAAGCTTCTGGCACTGTTCCAACAGTAGCTGCCTTTGGCCCCAGCAAACCTGGGACAGGAAGAACTTGAAGTCAATAGCCCTGCGGAGGGAGAGCCACTTTATCCCCTCTTGCACAGAGCCTTGCAACTACTTCCAAGGAGGATCACTCCTTCCAGCTCCTTGGGGGCAGCCCCTGGATAGACACCAAGGCATACTCCTGGGGCTCTGGTTGGCAGTACCTGGCCACAGAGATCCAAAGGCGGCCCACGGTGCATATCTGGGAGTCTTCCTCATCCTCCAGGGTGTAGTTCTCCCCCAGTACCTTCACAGGCTGCCCAGCATGAATGGTGCCACTCAGCACCCGGCCAAAGGCGTGAAACTGGACTCCATCATCTGTGCTGTACATCTTAGTAGTGTGGCACATCGGGGGCCCTGGAAGAGGGGACAGGGTGCAGCTTCAACCACATCTATGCTCCGGGGAAGTACTACTCCCCGCCATCTTCCTTGACAGCAAGGACATGAGCTCTATGAGGAGCTAGAGAAAGATGAGGTAGTCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGCCAGGCAACATGCTGAACACAACCGTAACACTTCCTTAATCTTATTTAAATCTCATAACAACCGCTCACATTTTATTATGCTCGTGTTATAGACCAAGGCCTTGAGGCTCAGGAAATGTGAGTAATGTTCCCAAGGTCATAGCACTAGCGGTGGCAACATCAGGCTTTGCATTCAGGCCTGACTGTGCTCATGGGGATGGGGAGGCAAGGGTGGGAAAGTGGGCATTACTCCTGTGACCAGAAATCAGTATCCCCACACAGGAAGGGGAAAAAAAGACCAGAGAACCGGGGAGCCACATGCCCTTACATCAGGGTCACAGTCACTCATAGCCTCGCCGAGGTCGGAGTCCACACCACCGGTGTAGGTGTGCTCAATCTTGGGCTTGGCGCCCACCTTTGGAGAAGGGATATGCTGCACACACATGTCCACAAAGCCTGTGGATGGAGAAGAGAAAGCCATTAATACATGCCTTCCCAGGGAGCACGAGCAGGAGTTACTGAGCCATTCACAATGGTCAAAAAGCTCAAAGTGCGGGGACTGATTGTTAGCTCTAAAAGCTCTGGCACTATAGATAGTGATAGCCTGCTTCCTGGGAATGTGCTGCTAGAAGATTTGGAGTCACCCTGATGCCAGAAAAGAGCAAGCAGCAGGTATCAGTGGTACATGGTTCCTTGGAACTCAGCTGACAAAAAGTTTAAAGTACATCGATCTATGAACTTTTATTGGCTATACGCATTTACGTGGAACAAAATAAGCACCCCATCTAACATCTACTTAAAACAATTCCCAACCTGACTCCCCTTGAGAAACACTGCATGCATCTCTATTCAATAAGTTACCCCGTTTTCTGAACACATTAATAAACCACATAAGAGGGAACCCCCATGAGCACACTGGGATAGGCCTGTGTGCCTTCAATGGTATCTGGTGTGTCAGATTGATGGGCAGACCAAAATAAGCTATTAAAACTACGCACCTTGGGGGCCCAGACACCTAATTCCCACCGGACTTAGAATCAGAGACTGCTGAGAAGACCCTCAGCCATCACCCTTTCCACTTCCCTGATTTTACAGATAACAAATCAGAGTCATGAAGAATTAGGTGGCTGGCCCAGGGTCATCTCATGGAATGGCCAGGGCAGGATCGAGACAGACTCAGGTGGTTTTTTCAACCAGTCCAGTGTCTTTCTGCTGTATCACGTGCCTTCTGTGTAACTAACCAAGTCTCCCAAGTCCTAGCCTAGTGCTTTTTGCACTATTTCACACTACCCAAGCATCCACCTTCCCGGCTGCCCCCTGGAAAATATACCAGAACCACAGAGCCTGCCTCCCCATCTCATTTACTTGAACACTCCTCCTGGCAGGAAAATGTAATTCCTTTTGGTTCCCAAGATAGAATGTGTGCCATCATCCACTAAGGAAAGCAGCTAGGAAAAACACCAGTGTTCTGCATCTGAATCTGTGGTTTGTTGAAAAGATCCTCAGATTTCTGACCTCCATCGCTGGGTGAGAAAAAATTGCTGTGATACCTGTGGCAGGGCACGAGGATGACAGAGTTAAGGGGCCACGAGCACATTATTACCTGTGAACTCGCCAAAN | pathogenic | 277,129 |
Determine if the mutation at chromosome 17, position 44863769 in gene EFTUD2 (elongation factor Tu GTP binding domain containing 2) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GAGACTCCATCTCAAAAAAAAAAGCATCACAGAAAACTTCCACTTTCCCAGCTCTTCAATATTCCACCTTTTGGCATTTAGGGTGGATTTAACAAAAGGGACCACCATTGAGGCAGGGTAGCCACCTTAGGGAACACGAATGCTTTGGTTTAACTTGTCAACTGGGAAACCAAATTCATAAACTGACAAGTAGCCCAGAGGCCCAAGCTAAGTTTGACTGCAGATTGGGATGCTACAAGGGATCCAGCGAAGCCTTCTCTCTTGGTCAAAGAGTAGACAGTGGAGTTGGGGAACAATTTCTTTTGGGAAGAAACACAAAGATTATGACTTAAGGAACACAGGAGAGGAAATGAAAAGAGGATTAAGATGAGTAACAATGGAAATCCTCCTACAAAAGTTCATACAAGCTTCATGCTTTCAAAAGGGCTTTAAGATGGTGTGTGGTGGCTCACACCTGTAATCCAACACTTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAATATAGTGAGACATTGTCTCTACAAAAAATTTAAAAATTAGCCAGACATAGTGGTGTGTGCTTGTAGTTCCAGCTACTCAGGAGGCTGAGGTGGAAGGACTGCTTGAGCCCAGGAGGCGGAGGTCGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGCCTAGGAGACAGAGTGAGACCCTGTCTCAAAACAAACAAATAGGGCTAAAAAAAAAAGTTCACACGAGCCACCCAAAGTGCAAAGGCGAAGCTTCTGGCACTGTTCCAACAGTAGCTGCCTTTGGCCCCAGCAAACCTGGGACAGGAAGAACTTGAAGTCAATAGCCCTGCGGAGGGAGAGCCACTTTATCCCCTCTTGCACAGAGCCTTGCAACTACTTCCAAGGAGGATCACTCCTTCCAGCTCCTTGGGGGCAGCCCCTGGATAGACACCAAGGCATACTCCTGGGGCTCTGGTTGGCAGTACCTGGCCACAGAGATCCAAAGGCGGCCCACGGTGCATATCTGGGAGTCTTCCTCATCCTCCAGGGTGTAGTTCTCCCCCAGTACCTTCACAGGCTGCCCAGCATGAATGGTGCCACTCAGCACCCGGCCAAAGGCGTGAAACTGGACTCCATCATCTGTGCTGTACATCTTAGTAGTGTGGCACATCAGGGGGCCCTGGAAGAGGGGACAGGGTGCAGCTTCAACCACATCTATGCTCCGGGGAAGTACTACTCCCCGCCATCTTCCTTGACAGCAAGGACATGAGCTCTATGAGGAGCTAGAGAAAGATGAGGTAGTCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGCCAGGCAACATGCTGAACACAACCGTAACACTTCCTTAATCTTATTTAAATCTCATAACAACCGCTCACATTTTATTATGCTCGTGTTATAGACCAAGGCCTTGAGGCTCAGGAAATGTGAGTAATGTTCCCAAGGTCATAGCACTAGCGGTGGCAACATCAGGCTTTGCATTCAGGCCTGACTGTGCTCATGGGGATGGGGAGGCAAGGGTGGGAAAGTGGGCATTACTCCTGTGACCAGAAATCAGTATCCCCACACAGGAAGGGGAAAAAAAGACCAGAGAACCGGGGAGCCACATGCCCTTACATCAGGGTCACAGTCACTCATAGCCTCGCCGAGGTCGGAGTCCACACCACCGGTGTAGGTGTGCTCAATCTTGGGCTTGGCGCCCACCTTTGGAGAAGGGATATGCTGCACACACATGTCCACAAAGCCTGTGGATGGAGAAGAGAAAGCCATTAATACATGCCTTCCCAGGGAGCACGAGCAGGAGTTACTGAGCCATTCACAATGGTCAAAAAGCTCAAAGTGCGGGGACTGATTGTTAGCTCTAAAAGCTCTGGCACTATAGATAGTGATAGCCTGCTTCCTGGGAATGTGCTGCTAGAAGATTTGGAGTCACCCTGATGCCAGAAAAGAGCAAGCAGCAGGTATCAGTGGTACATGGTTCCTTGGAACTCAGCTGACAAAAAGTTTAAAGTACATCGATCTATGAACTTTTATTGGCTATACGCATTTACGTGGAACAAAATAAGCACCCCATCTAACATCTACTTAAAACAATTCCCAACCTGACTCCCCTTGAGAAACACTGCATGCATCTCTATTCAATAAGTTACCCCGTTTTCTGAACACATTAATAAACCACATAAGAGGGAACCCCCATGAGCACACTGGGATAGGCCTGTGTGCCTTCAATGGTATCTGGTGTGTCAGATTGATGGGCAGACCAAAATAAGCTATTAAAACTACGCACCTTGGGGGCCCAGACACCTAATTCCCACCGGACTTAGAATCAGAGACTGCTGAGAAGACCCTCAGCCATCACCCTTTCCACTTCCCTGATTTTACAGATAACAAATCAGAGTCATGAAGAATTAGGTGGCTGGCCCAGGGTCATCTCATGGAATGGCCAGGGCAGGATCGAGACAGACTCAGGTGGTTTTTTCAACCAGTCCAGTGTCTTTCTGCTGTATCACGTGCCTTCTGTGTAACTAACCAAGTCTCCCAAGTCCTAGCCTAGTGCTTTTTGCACTATTTCACACTACCCAAGCATCCACCTTCCCGGCTGCCCCCTGGAAAATATACCAGAACCACAGAGCCTGCCTCCCCATCTCATTTACTTGAACACTCCTCCTGGCAGGAAAATGTAATTCCTTTTGGTTCCCAAGATAGAATGTGTGCCATCATCCACTAAGGAAAGCAGCTAGGAAAAACACCAGTGTTCTGCATCTGAATCTGTGGTTTGTTGAAAAGATCCTCAGATTTCTGACCTCCATCGCTGGGTGAGAAAAAATTGCTGTGATACCTGTGGCAGGGCACGAGGATGACAGAGTTAAGGGGCCACGAGCACATTATTACCTGTGAACTCGCCAAAGAACTTTTTGCAGACCAGCCTGAGCAAGGGGCGGATGTTCAGCTTCAGCTCCTCCTTCGTCAGGTGGATGCCAAGCTCGTCTAGGGTCCGTGGGAGGCTGGTGTCCACGTCACCTACAACCTGTGAGGGTGTAAGACACCATGTCAGCTGTAGTGAGAGCCTGAGCATGGTGCTAGAGGGAGACAAGGGAAGTCCAAAGAAATATCTGAAGAACTCCTTCACAAGGCTCTCTTCTATGGAGACAAAGCTCTTGGCAAGGACAAAAGTTTGGTTTCAGCGGCATCTCTGCTACCTACCCTTCAAACCACAGGCAAAGCCAACTTGGTTACATCCCCATCCCAGCCAATAAACCAAGCACTCAGATTGATTACTCCCAGTGCTGCCCCCTGGTGTCTGAAAAGCAGCATCTCCTCCCACTCAGAAACTCCCTCACCTATTAAACAGAAGTCTATTTACAGACTTCTCAGATTTAGAGGATCATTGTGCACTGGAAGGAACCAAAAAAGGTCACCTTGCTGTGGATCCTGTCAGGGCAGGGCCAAGCTAAATCACCCTCAGTAGACTCAAGGTCTCTACTGAGGCAGGCTCTATAAATTTTTTTTATTAATCCATTCCAGTCTGACATAAGATACTAAGTATTTTTCAGCACTAATAAATTTTAATTGCTATTTTATCTTGTTGCTAGGTTTTGCTGTTTTGTCCACCGGAATGGCCACACACATTTTGTGTATGTGTGTGTCCACTGTGCTTATTAAATACCTGCATATTTTATTACTGCCTTGGGAGAAAGGTCTGTATGAAAATTCCTATAATTTTTACCCTTTTAGTCCCATCTTTTAGGGAGTACAAATTCATATAAACGTCATGCTAT | GAGACTCCATCTCAAAAAAAAAAGCATCACAGAAAACTTCCACTTTCCCAGCTCTTCAATATTCCACCTTTTGGCATTTAGGGTGGATTTAACAAAAGGGACCACCATTGAGGCAGGGTAGCCACCTTAGGGAACACGAATGCTTTGGTTTAACTTGTCAACTGGGAAACCAAATTCATAAACTGACAAGTAGCCCAGAGGCCCAAGCTAAGTTTGACTGCAGATTGGGATGCTACAAGGGATCCAGCGAAGCCTTCTCTCTTGGTCAAAGAGTAGACAGTGGAGTTGGGGAACAATTTCTTTTGGGAAGAAACACAAAGATTATGACTTAAGGAACACAGGAGAGGAAATGAAAAGAGGATTAAGATGAGTAACAATGGAAATCCTCCTACAAAAGTTCATACAAGCTTCATGCTTTCAAAAGGGCTTTAAGATGGTGTGTGGTGGCTCACACCTGTAATCCAACACTTTTGAGAGGCTGAGGTGGGAGGATCACTTGAGCCCAGGAGTTGGAGACCAGCCTGGGCAATATAGTGAGACATTGTCTCTACAAAAAATTTAAAAATTAGCCAGACATAGTGGTGTGTGCTTGTAGTTCCAGCTACTCAGGAGGCTGAGGTGGAAGGACTGCTTGAGCCCAGGAGGCGGAGGTCGCAGTGAGCTGAGATTGTGCCACTGCACTCTGGCCTAGGAGACAGAGTGAGACCCTGTCTCAAAACAAACAAATAGGGCTAAAAAAAAAAGTTCACACGAGCCACCCAAAGTGCAAAGGCGAAGCTTCTGGCACTGTTCCAACAGTAGCTGCCTTTGGCCCCAGCAAACCTGGGACAGGAAGAACTTGAAGTCAATAGCCCTGCGGAGGGAGAGCCACTTTATCCCCTCTTGCACAGAGCCTTGCAACTACTTCCAAGGAGGATCACTCCTTCCAGCTCCTTGGGGGCAGCCCCTGGATAGACACCAAGGCATACTCCTGGGGCTCTGGTTGGCAGTACCTGGCCACAGAGATCCAAAGGCGGCCCACGGTGCATATCTGGGAGTCTTCCTCATCCTCCAGGGTGTAGTTCTCCCCCAGTACCTTCACAGGCTGCCCAGCATGAATGGTGCCACTCAGCACCCGGCCAAAGGCGTGAAACTGGACTCCATCATCTGTGCTGTACATCTTAGTAGTGTGGCACATCAGGGGGCCCTGGAAGAGGGGACAGGGTGCAGCTTCAACCACATCTATGCTCCGGGGAAGTACTACTCCCCGCCATCTTCCTTGACAGCAAGGACATGAGCTCTATGAGGAGCTAGAGAAAGATGAGGTAGTCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGCCAGGCAACATGCTGAACACAACCGTAACACTTCCTTAATCTTATTTAAATCTCATAACAACCGCTCACATTTTATTATGCTCGTGTTATAGACCAAGGCCTTGAGGCTCAGGAAATGTGAGTAATGTTCCCAAGGTCATAGCACTAGCGGTGGCAACATCAGGCTTTGCATTCAGGCCTGACTGTGCTCATGGGGATGGGGAGGCAAGGGTGGGAAAGTGGGCATTACTCCTGTGACCAGAAATCAGTATCCCCACACAGGAAGGGGAAAAAAAGACCAGAGAACCGGGGAGCCACATGCCCTTACATCAGGGTCACAGTCACTCATAGCCTCGCCGAGGTCGGAGTCCACACCACCGGTGTAGGTGTGCTCAATCTTGGGCTTGGCGCCCACCTTTGGAGAAGGGATATGCTGCACACACGTCCACAAAGCCTGTGGATGGAGAAGAGAAAGCCATTAATACATGCCTTCCCAGGGAGCACGAGCAGGAGTTACTGAGCCATTCACAATGGTCAAAAAGCTCAAAGTGCGGGGACTGATTGTTAGCTCTAAAAGCTCTGGCACTATAGATAGTGATAGCCTGCTTCCTGGGAATGTGCTGCTAGAAGATTTGGAGTCACCCTGATGCCAGAAAAGAGCAAGCAGCAGGTATCAGTGGTACATGGTTCCTTGGAACTCAGCTGACAAAAAGTTTAAAGTACATCGATCTATGAACTTTTATTGGCTATACGCATTTACGTGGAACAAAATAAGCACCCCATCTAACATCTACTTAAAACAATTCCCAACCTGACTCCCCTTGAGAAACACTGCATGCATCTCTATTCAATAAGTTACCCCGTTTTCTGAACACATTAATAAACCACATAAGAGGGAACCCCCATGAGCACACTGGGATAGGCCTGTGTGCCTTCAATGGTATCTGGTGTGTCAGATTGATGGGCAGACCAAAATAAGCTATTAAAACTACGCACCTTGGGGGCCCAGACACCTAATTCCCACCGGACTTAGAATCAGAGACTGCTGAGAAGACCCTCAGCCATCACCCTTTCCACTTCCCTGATTTTACAGATAACAAATCAGAGTCATGAAGAATTAGGTGGCTGGCCCAGGGTCATCTCATGGAATGGCCAGGGCAGGATCGAGACAGACTCAGGTGGTTTTTTCAACCAGTCCAGTGTCTTTCTGCTGTATCACGTGCCTTCTGTGTAACTAACCAAGTCTCCCAAGTCCTAGCCTAGTGCTTTTTGCACTATTTCACACTACCCAAGCATCCACCTTCCCGGCTGCCCCCTGGAAAATATACCAGAACCACAGAGCCTGCCTCCCCATCTCATTTACTTGAACACTCCTCCTGGCAGGAAAATGTAATTCCTTTTGGTTCCCAAGATAGAATGTGTGCCATCATCCACTAAGGAAAGCAGCTAGGAAAAACACCAGTGTTCTGCATCTGAATCTGTGGTTTGTTGAAAAGATCCTCAGATTTCTGACCTCCATCGCTGGGTGAGAAAAAATTGCTGTGATACCTGTGGCAGGGCACGAGGATGACAGAGTTAAGGGGCCACGAGCACATTATTACCTGTGAACTCGCCAAAGAACTTTTTGCAGACCAGCCTGAGCAAGGGGCGGATGTTCAGCTTCAGCTCCTCCTTCGTCAGGTGGATGCCAAGCTCGTCTAGGGTCCGTGGGAGGCTGGTGTCCACGTCACCTACAACCTGTGAGGGTGTAAGACACCATGTCAGCTGTAGTGAGAGCCTGAGCATGGTGCTAGAGGGAGACAAGGGAAGTCCAAAGAAATATCTGAAGAACTCCTTCACAAGGCTCTCTTCTATGGAGACAAAGCTCTTGGCAAGGACAAAAGTTTGGTTTCAGCGGCATCTCTGCTACCTACCCTTCAAACCACAGGCAAAGCCAACTTGGTTACATCCCCATCCCAGCCAATAAACCAAGCACTCAGATTGATTACTCCCAGTGCTGCCCCCTGGTGTCTGAAAAGCAGCATCTCCTCCCACTCAGAAACTCCCTCACCTATTAAACAGAAGTCTATTTACAGACTTCTCAGATTTAGAGGATCATTGTGCACTGGAAGGAACCAAAAAAGGTCACCTTGCTGTGGATCCTGTCAGGGCAGGGCCAAGCTAAATCACCCTCAGTAGACTCAAGGTCTCTACTGAGGCAGGCTCTATAAATTTTTTTTATTAATCCATTCCAGTCTGACATAAGATACTAAGTATTTTTCAGCACTAATAAATTTTAATTGCTATTTTATCTTGTTGCTAGGTTTTGCTGTTTTGTCCACCGGAATGGCCACACACATTTTGTGTATGTGTGTGTCCACTGTGCTTATTAAATACCTGCATATTTTATTACTGCCTTGGGAGAAAGGTCTGTATGAAAATTCCTATAATTTTTACCCTTTTAGTCCCATCTTTTAGGGAGTACAAATTCATATAAACGTCATGCTATNN | pathogenic | 277,138 |
For chromosome 17, position 44865077, gene EFTUD2 (elongation factor Tu GTP binding domain containing 2): benign or pathogenic mutation? If pathogenic, what are the associated disease(s)? | benign | TCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGCCAGGCAACATGCTGAACACAACCGTAACACTTCCTTAATCTTATTTAAATCTCATAACAACCGCTCACATTTTATTATGCTCGTGTTATAGACCAAGGCCTTGAGGCTCAGGAAATGTGAGTAATGTTCCCAAGGTCATAGCACTAGCGGTGGCAACATCAGGCTTTGCATTCAGGCCTGACTGTGCTCATGGGGATGGGGAGGCAAGGGTGGGAAAGTGGGCATTACTCCTGTGACCAGAAATCAGTATCCCCACACAGGAAGGGGAAAAAAAGACCAGAGAACCGGGGAGCCACATGCCCTTACATCAGGGTCACAGTCACTCATAGCCTCGCCGAGGTCGGAGTCCACACCACCGGTGTAGGTGTGCTCAATCTTGGGCTTGGCGCCCACCTTTGGAGAAGGGATATGCTGCACACACATGTCCACAAAGCCTGTGGATGGAGAAGAGAAAGCCATTAATACATGCCTTCCCAGGGAGCACGAGCAGGAGTTACTGAGCCATTCACAATGGTCAAAAAGCTCAAAGTGCGGGGACTGATTGTTAGCTCTAAAAGCTCTGGCACTATAGATAGTGATAGCCTGCTTCCTGGGAATGTGCTGCTAGAAGATTTGGAGTCACCCTGATGCCAGAAAAGAGCAAGCAGCAGGTATCAGTGGTACATGGTTCCTTGGAACTCAGCTGACAAAAAGTTTAAAGTACATCGATCTATGAACTTTTATTGGCTATACGCATTTACGTGGAACAAAATAAGCACCCCATCTAACATCTACTTAAAACAATTCCCAACCTGACTCCCCTTGAGAAACACTGCATGCATCTCTATTCAATAAGTTACCCCGTTTTCTGAACACATTAATAAACCACATAAGAGGGAACCCCCATGAGCACACTGGGATAGGCCTGTGTGCCTTCAATGGTATCTGGTGTGTCAGATTGATGGGCAGACCAAAATAAGCTATTAAAACTACGCACCTTGGGGGCCCAGACACCTAATTCCCACCGGACTTAGAATCAGAGACTGCTGAGAAGACCCTCAGCCATCACCCTTTCCACTTCCCTGATTTTACAGATAACAAATCAGAGTCATGAAGAATTAGGTGGCTGGCCCAGGGTCATCTCATGGAATGGCCAGGGCAGGATCGAGACAGACTCAGGTGGTTTTTTCAACCAGTCCAGTGTCTTTCTGCTGTATCACGTGCCTTCTGTGTAACTAACCAAGTCTCCCAAGTCCTAGCCTAGTGCTTTTTGCACTATTTCACACTACCCAAGCATCCACCTTCCCGGCTGCCCCCTGGAAAATATACCAGAACCACAGAGCCTGCCTCCCCATCTCATTTACTTGAACACTCCTCCTGGCAGGAAAATGTAATTCCTTTTGGTTCCCAAGATAGAATGTGTGCCATCATCCACTAAGGAAAGCAGCTAGGAAAAACACCAGTGTTCTGCATCTGAATCTGTGGTTTGTTGAAAAGATCCTCAGATTTCTGACCTCCATCGCTGGGTGAGAAAAAATTGCTGTGATACCTGTGGCAGGGCACGAGGATGACAGAGTTAAGGGGCCACGAGCACATTATTACCTGTGAACTCGCCAAAGAACTTTTTGCAGACCAGCCTGAGCAAGGGGCGGATGTTCAGCTTCAGCTCCTCCTTCGTCAGGTGGATGCCAAGCTCGTCTAGGGTCCGTGGGAGGCTGGTGTCCACGTCACCTACAACCTGTGAGGGTGTAAGACACCATGTCAGCTGTAGTGAGAGCCTGAGCATGGTGCTAGAGGGAGACAAGGGAAGTCCAAAGAAATATCTGAAGAACTCCTTCACAAGGCTCTCTTCTATGGAGACAAAGCTCTTGGCAAGGACAAAAGTTTGGTTTCAGCGGCATCTCTGCTACCTACCCTTCAAACCACAGGCAAAGCCAACTTGGTTACATCCCCATCCCAGCCAATAAACCAAGCACTCAGATTGATTACTCCCAGTGCTGCCCCCTGGTGTCTGAAAAGCAGCATCTCCTCCCACTCAGAAACTCCCTCACCTATTAAACAGAAGTCTATTTACAGACTTCTCAGATTTAGAGGATCATTGTGCACTGGAAGGAACCAAAAAAGGTCACCTTGCTGTGGATCCTGTCAGGGCAGGGCCAAGCTAAATCACCCTCAGTAGACTCAAGGTCTCTACTGAGGCAGGCTCTATAAATTTTTTTTATTAATCCATTCCAGTCTGACATAAGATACTAAGTATTTTTCAGCACTAATAAATTTTAATTGCTATTTTATCTTGTTGCTAGGTTTTGCTGTTTTGTCCACCGGAATGGCCACACACATTTTGTGTATGTGTGTGTCCACTGTGCTTATTAAATACCTGCATATTTTATTACTGCCTTGGGAGAAAGGTCTGTATGAAAATTCCTATAATTTTTACCCTTTTAGTCCCATCTTTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCACATCCGGCCACGTTATATTCTTTGCTTCTCAGCATTCCACATGCTTAATTAAATCCTTACCATCTCCTGACAAATGATTTCAATCTGACAAGCATCACATATTGTGCAAACAGTTAAGAAAGCAAAGTTCATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAA | TCTCATCTCCAAACCATGTTCTACCCCATCCCTCTGAGAAGGATGAATAGGAGACATGGCAGAGCAAAAATATTCTCCTCTTTTTTTTTTTTTGGGAGGATAAGGGCATTGAGGAAGAGACACAGATTTAAGATAGCAGAGAGGCACTATTGGCAAGATTACTTACTGTCCCAAATTTCCTCTTAAGATGTAACTCAATTCTCAACTGGCTGTGTATTTATGATAAGAAACTAGACAGCCTAAGAAATGGCTGGGAAAGATGTTTTTAAAAGCCAGGACTGACAAGATTAGCTACCATTTGTTGAATCTTTAGTATCTGCCAGGCAACATGCTGAACACAACCGTAACACTTCCTTAATCTTATTTAAATCTCATAACAACCGCTCACATTTTATTATGCTCGTGTTATAGACCAAGGCCTTGAGGCTCAGGAAATGTGAGTAATGTTCCCAAGGTCATAGCACTAGCGGTGGCAACATCAGGCTTTGCATTCAGGCCTGACTGTGCTCATGGGGATGGGGAGGCAAGGGTGGGAAAGTGGGCATTACTCCTGTGACCAGAAATCAGTATCCCCACACAGGAAGGGGAAAAAAAGACCAGAGAACCGGGGAGCCACATGCCCTTACATCAGGGTCACAGTCACTCATAGCCTCGCCGAGGTCGGAGTCCACACCACCGGTGTAGGTGTGCTCAATCTTGGGCTTGGCGCCCACCTTTGGAGAAGGGATATGCTGCACACACATGTCCACAAAGCCTGTGGATGGAGAAGAGAAAGCCATTAATACATGCCTTCCCAGGGAGCACGAGCAGGAGTTACTGAGCCATTCACAATGGTCAAAAAGCTCAAAGTGCGGGGACTGATTGTTAGCTCTAAAAGCTCTGGCACTATAGATAGTGATAGCCTGCTTCCTGGGAATGTGCTGCTAGAAGATTTGGAGTCACCCTGATGCCAGAAAAGAGCAAGCAGCAGGTATCAGTGGTACATGGTTCCTTGGAACTCAGCTGACAAAAAGTTTAAAGTACATCGATCTATGAACTTTTATTGGCTATACGCATTTACGTGGAACAAAATAAGCACCCCATCTAACATCTACTTAAAACAATTCCCAACCTGACTCCCCTTGAGAAACACTGCATGCATCTCTATTCAATAAGTTACCCCGTTTTCTGAACACATTAATAAACCACATAAGAGGGAACCCCCATGAGCACACTGGGATAGGCCTGTGTGCCTTCAATGGTATCTGGTGTGTCAGATTGATGGGCAGACCAAAATAAGCTATTAAAACTACGCACCTTGGGGGCCCAGACACCTAATTCCCACCGGACTTAGAATCAGAGACTGCTGAGAAGACCCTCAGCCATCACCCTTTCCACTTCCCTGATTTTACAGATAACAAATCAGAGTCATGAAGAATTAGGTGGCTGGCCCAGGGTCATCTCATGGAATGGCCAGGGCAGGATCGAGACAGACTCAGGTGGTTTTTTCAACCAGTCCAGTGTCTTTCTGCTGTATCACGTGCCTTCTGTGTAACTAACCAAGTCTCCCAAGTCCTAGCCTAGTGCTTTTTGCACTATTTCACACTACCCAAGCATCCACCTTCCCGGCTGCCCCCTGGAAAATATACCAGAACCACAGAGCCTGCCTCCCCATCTCATTTACTTGAACACTCCTCCTGGCAGGAAAATGTAATTCCTTTTGGTTCCCAAGATAGAATGTGTGCCATCATCCACTAAGGAAAGCAGCTAGGAAAAACACCAGTGTTCTGCATCTGAATCTGTGGTTTGTTGAAAAGATCCTCAGATTTCTGACCTCCATCGCTGGGTGAGAAAAAATTGCTGTGATACCTGTGGCAGGGCACGAGGATGACAGAGTTAAGGGGCCACGAGCACATTATTACCTGTGAACTCGCCAAAGAACTTTTTGCAGACCAGCCTGAGCAAGGGGCGGATGTTCAGCTTCAGCTCCTCCTTCGTCAGGTGGATGCCAAGCTCGTCTAGGGTCCGTGGGAGGCTGGTGTCCACGTCACCTACAACCTGTGAGGGTGTAGACACCATGTCAGCTGTAGTGAGAGCCTGAGCATGGTGCTAGAGGGAGACAAGGGAAGTCCAAAGAAATATCTGAAGAACTCCTTCACAAGGCTCTCTTCTATGGAGACAAAGCTCTTGGCAAGGACAAAAGTTTGGTTTCAGCGGCATCTCTGCTACCTACCCTTCAAACCACAGGCAAAGCCAACTTGGTTACATCCCCATCCCAGCCAATAAACCAAGCACTCAGATTGATTACTCCCAGTGCTGCCCCCTGGTGTCTGAAAAGCAGCATCTCCTCCCACTCAGAAACTCCCTCACCTATTAAACAGAAGTCTATTTACAGACTTCTCAGATTTAGAGGATCATTGTGCACTGGAAGGAACCAAAAAAGGTCACCTTGCTGTGGATCCTGTCAGGGCAGGGCCAAGCTAAATCACCCTCAGTAGACTCAAGGTCTCTACTGAGGCAGGCTCTATAAATTTTTTTTATTAATCCATTCCAGTCTGACATAAGATACTAAGTATTTTTCAGCACTAATAAATTTTAATTGCTATTTTATCTTGTTGCTAGGTTTTGCTGTTTTGTCCACCGGAATGGCCACACACATTTTGTGTATGTGTGTGTCCACTGTGCTTATTAAATACCTGCATATTTTATTACTGCCTTGGGAGAAAGGTCTGTATGAAAATTCCTATAATTTTTACCCTTTTAGTCCCATCTTTTAGGGAGTACAAATTCATATAAACGTCATGCTATATTCCCTTTTTTAGAGACAGGGTCTCACTCTGTCACCCAGCCTGGAGTGCAGTGGTGTGATCACGGCTCACTGCAACCTCCACCTCCTGGGCTCAAGTGATCCTCCTGCCTCAGCCCCCCAAGTAGTTGGGACCACAGGCACACACCACTACAACAGCTAATTCTATTTTGTGCGGAGATAAAGGGTTTAGCCATGTTGTCCAAGCTGGTCTTGAACTCCTGATCTCAAGCGATCTGCCCACTGGGACCTCCCAAAGTGCTGGAATTACAGGCGTGAGCAACCACATCCGGCCACGTTATATTCTTTGCTTCTCAGCATTCCACATGCTTAATTAAATCCTTACCATCTCCTGACAAATGATTTCAATCTGACAAGCATCACATATTGTGCAAACAGTTAAGAAAGCAAAGTTCATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAAN | benign | 277,142 |
Is chromosome 17, position 44868279, gene EFTUD2 (elongation factor Tu GTP binding domain containing 2) variant benign or pathogenic? If pathogenic, what condition(s) is it related to? | benign | ATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAACACTTTGACTTATATGAATAAGCAGGAGGACTTTCACAATTATATCTGTAAGTTAAATTTCCGTAACTGAAATGATTAGTTCTAAGTGTCACATTCTTCTCAATAGTCAAGATCTGTTCATAAACCTGCTCTAGGAGAAGTCTTTTCTTTCATACCTTTTCCCTTTCCTTTGATTTTTTTTTTTTTTTTTTTGGTGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTGGTGGAGACGGGGTTTCATCGTGTTGCCTAGGCTGGTCTCAAGCTCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGGCCCCTTTCCTTTGATTTTAATAACACTTAGAGTAATGTAGTGTTCTGGATCCAGAAGATTACTTCTGGAACAATTAGTGACCAACAACCACCCTTATACTTGACATAAAACTGAGCAGGTTTAGGGACAGAGGGAAGTGTGAGTTCACCAGCTCTTCCACACTGTGCTTATAAGAGCAGATCTGCCCAGTGTGACCTGACACACTCACCTGGGCGAGGATCTTATAAAGAGGCTCCAAGATAAACTCCACGAAACTTCTCTGGGAGCTGCTAGTTGGGGCCTTTTTGGTGAACTTTCGCCTAAAAGGAAAAATAAGTTCTGAGTGACCCAGGGGAAAAGGCACTATCACTGATCCCAAGAGGCATTGTCTAAGTGCTGAATCTGAACAACAGCCCAGGGGAGGAATGTGTGTGTGACTGTAAAGTTTCCAGAGACAGATTCCTGGAAGGATACATGGTTATGACCCTCCTGGATGCCTGAGCTGGGCTGTAAAGACTTCAGGAGAAACAGCTTCTCACCAGATCAGAGCTTAGGAAGCCAACCCATTTAGGGGAGGAAAGACGGTAGTTTACATTAAAAAAAAAAAAAAAAGTAGGTATTTAATCTTTGAACTCAGAGAATTTCACTGTCCTCACTTACTGGGTAAATGATCACCCCTCTGGAAAGTCACGTCCCATACTCTACTTACGTCTTAGGGTTGAAGTAGATGTCACCCCAGAGTCTTTTAGCAAATTCTTGGTAATTAATGTCACCTATGGGAGAAGCCACACAATTATAATCTACCTAGCAAAGTGTCGTTCAAAATTCTGTTTCAGGTGCCACAGGTGGTTCATAGCTGAGAACTTCTAGCACTTTCCTTTCCAGGGTCCAGGCAGTTCCTTCTAACCAGAGAGGAAAACGAGGACACTGAGGCACAAAGAAGGACAAGACTGGTCCAAAGTTGACAAGGCTGTGCTGGAGCCAAAATGAGAACCCAAGCCTCTCCATCTCCACCAAGCACTAGGATTGAACTATGGACAAGAGCATGGGTTACATGTTTTCCTTCGATGGAACAGGGTCACCTACTGTGTGGCATCCTCTATCTGCATCTAAACCCTGTCCCTTCTGGAAGGGGAATTTAATGGTTCTTTCACCCTTTCCTGATGTAGACAAGCTCGACTCTGCTGCCAGTGTGGGCCACCTTCCAACTGCAGTGTCACCATAAGGTTCTGGCTAGCCCTAGGCCTCAGGTAAGCAATTACTCAGCCCTCTCGAGAGAAAACACCAAAGCCAACCTTTGGCTCATCTTTCACCAATTAATATTTTTAGTTTGACTATAACTGCTAATCCTGGTCAGACTGTACCAAACAACCATAGCTTTTAAAAGTCAAGACGTTGGGTGACATCCAATTAGATAACTGATAGCACCAACCACCTCCTGGATATTTCTACCCAGATGTCAGACTGTCCCCTCACCTTGTATGGGATAAAGGGAATGCACTGGCTTTTCCCGAAAGTCACATTCCCCTTCAGACTTCTCTGTCTCCATCAGTAAGGTTACCACCAAATTTTCAGCTAAACTCAAAATCTTTTTCTTCCCTACTCTGTTAATTACCAAATTCTCCCCTTCTTTCCCACATTGTTAGTTACTGAAACTTTCCTTCCTCTGAACCACTGAATGTTTATGCCCTCTGTTAATGCACTTACCATGCAGTATAATCACTGAACTTTTTTTCTTTGAGATGGGGTCTTGCTTTGTCATCCACACTGGAGTGCAGTGGCATAACCTTGGCTCCCTGCAGCCTCGACCTTCCTGGCTCATGCAATCCCCCCACCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGTGCGCCATCACGGCCAGCTAATTTTTAAAATTTTTTGTAGAGACGAGGTCTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCTCTACTTTGGCCTCCCCAAGTGCTCGGATTACAGGCATGAGCCACTGGACCTAGCCTGAACTTGAACTCTTCTCCTTGGTTAAACATTCCACTGTTACCTGAACAGGCCATGACTAACACCACCTGCCTCTATGCCTCTTTCTCCAGCCCTGCAAGTCTGGAATTCTTGGCTTTCTACTCTTTATTTGCCCAAGCCCCATCTCTTTCCCTCGGCTTTACCTGACTCCAAGCCATTGAGGCTGAGCCCTACCCCACCCCTAAATTCTCTCAGCTGTATCTGCCTACAGCACTCAGCTCACACTATCACCTCACATTGCCATTCATCACTCTGTGGGATTCTGTTCGTCCACTGGATGAAGTTTATAGAAGTCCGAAGTTGTTCATGATGCCTTATTGTATTATATTCCTAGCGAGAGCACATGGTATCAGTTTTGGTAGTAAGGTGTAAATGGATTCTAGTTCCTACTCTATTAGTAATTTCTGTGACCATGGGCATAGTTTCCCCTCATGTAAAATGAAGAGGACGACTCAATGATCTCTTCAATATTCCCTTCAGTGCTGACTTTACAGAAGTCTACACATGGCTTTCCATGATAACGCTGCTGCAGCCCAGCCCATAGCTAGCTCTGGCATAAACTAACAGTGGGTTCAAAGGATGAACAACAATCTCGCCCAAGGCTGAGGATCATTTTCAATCAAAATTGGAATCATCTCTGCATTATAATTACAAAAGGGTTTTGGATTTTGCTTCACATGCTCATACAATGGACATTTAGAAACACAA | ATACGAACATGCTTTGTTTTGTTTTTTTCTGAGACAGGGTCTCACTCCATCACTCAGGCTGGAATGCAGTGGTGTGTGATCATGGATCACTGCAGCTTTGACCACCAGGGTTCAAGCAATCCTCTGGCCTCAGCCTCCTGAGTAGCTGGGACCACAAGTGCACACCACCAGTCCCAGTTGATTTATTTTATTTTTTTTGAGACGGAGTCTTGCTCTGTCACCCAGGCTGGAGTGCAGTGGCACAATCTCAGCTCACTGCAGCCTCTGCCTCAAGAGTAGCTGGGATTACAAGCATGAGCCACCACGCCTGGCTAATTTTTGTATTTTTAGTAGAAATGGGGTCTTGCCATGTTGCCCAGGCTGGTCTTGAACTCCTGGACTCAAGTGATCCTCCCGCCTTGGCCTCCCAAAGCGTCTGGATTACAGGCCTGAGCCACTGTGCCCAGCTCAGACATACTTTAAGTGGTTGCAAAGCGGTTCATTTTATGGGATGTACCATCACTCATTTAATCAGATTAATGAGCATAACTGACAAACATTTAACTTATTTCCAGTTTTTTCCCTTTTCCTGATGTTACAAACAATGCTATAAGCTGAGGTGGTGGACTCCTGCCTGTAAGCCCAGCACTTTGGGAGGCCAAGGCAGGAGGATCACTTGAGGCTACAAGTTTGAGACCAGCTTGGGGATAATGGCAAGACCCTGTCTCTACACAAAATTTTTTAAAAGTTAGCCAGGCATGGTAGCTTGCACCTGCAGTCCCAGCTTCTCAGGAGGCTGAGGTGGGAGGATTGCTCAAACCTAGGAGTTTGAAGCTGCAGTGAGCTATGATCGTGCTATTGCACTCCCACCTGGGCGACAGAGTGGGACCCTATCTCTAAAAATGCTATAATAAACACTTTGACTTATATGAATAAGCAGGAGGACTTTCACAATTATATCTGTAAGTTAAATTTCCGTAACTGAAATGATTAGTTCTAAGTGTCACATTCTTCTCAATAGTCAAGATCTGTTCATAAACCTGCTCTAGGAGAAGTCTTTTCTTTCATACCTTTTCCCTTTCCTTTGATTTTTTTTTTTTTTTTTTTGGTGACAGAGTCTCGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGCAATCTCGGCTCACTGCAACCTCTGCCTCCTGAGTTCAAGCAATTCTCTTGCCTTAGCCTCCCGAGTAGCTGGGACTACAGGCGCCCGCCACCATGCCCAGCTAATTTTTTGTATTTTGGTGGAGACGGGGTTTCATCGTGTTGCCTAGGCTGGTCTCAAGCTCCTGAGCTCAGGCAATCTGCCCACCTCGGCCTCCCAAAGTGCTAGGATTACAGGCATGAGCCACCATGCCCGGGCCCCTTTCCTTTGATTTTAATAACACTTAGAGTAATGTAGTGTTCTGGATCCAGAAGATTACTTCTGGAACAATTAGTGACCAACAACCACCCTTATACTTGACATAAAACTGAGCAGGTTTAGGGACAGAGGGAAGTGTGAGTTCACCAGCTCTTCCACACTGTGCTTATAAGAGCAGATCTGCCCAGTGTGACCTGACACACTCACCTGGGCGAGGATCTTATAAAGAGGCTCCAAGATAAACTCCACGAAACTTCTCTGGGAGCTGCTAGTTGGGGCCTTTTTGGTGAACTTTCGCCTAAAAGGAAAAATAAGTTCTGAGTGACCCAGGGGAAAAGGCACTATCACTGATCCCAAGAGGCATTGTCTAAGTGCTGAATCTGAACAACAGCCCAGGGGAGGAATGTGTGTGTGACTGTAAAGTTTCCAGAGACAGATTCCTGGAAGGATACATGGTTATGACCCTCCTGGATGCCTGAGCTGGGCTGTAAAGACTTCAGGAGAAACAGCTTCTCACCAGATCAGAGCTTAGGAAGCCAACCCATTTAGGGGAGGAAAGACGGTAGTTTACATTAAAAAAAAAAAAAAAAGTAGGTATTTAATCTTTGAACTCAGAGAATTTCACTGTCCTCACTTACTGGGTAAATGATCACCCCTCTGGAAAGTCACGTCCCATACTCACGTCTTAGGGTTGAAGTAGATGTCACCCCAGAGTCTTTTAGCAAATTCTTGGTAATTAATGTCACCTATGGGAGAAGCCACACAATTATAATCTACCTAGCAAAGTGTCGTTCAAAATTCTGTTTCAGGTGCCACAGGTGGTTCATAGCTGAGAACTTCTAGCACTTTCCTTTCCAGGGTCCAGGCAGTTCCTTCTAACCAGAGAGGAAAACGAGGACACTGAGGCACAAAGAAGGACAAGACTGGTCCAAAGTTGACAAGGCTGTGCTGGAGCCAAAATGAGAACCCAAGCCTCTCCATCTCCACCAAGCACTAGGATTGAACTATGGACAAGAGCATGGGTTACATGTTTTCCTTCGATGGAACAGGGTCACCTACTGTGTGGCATCCTCTATCTGCATCTAAACCCTGTCCCTTCTGGAAGGGGAATTTAATGGTTCTTTCACCCTTTCCTGATGTAGACAAGCTCGACTCTGCTGCCAGTGTGGGCCACCTTCCAACTGCAGTGTCACCATAAGGTTCTGGCTAGCCCTAGGCCTCAGGTAAGCAATTACTCAGCCCTCTCGAGAGAAAACACCAAAGCCAACCTTTGGCTCATCTTTCACCAATTAATATTTTTAGTTTGACTATAACTGCTAATCCTGGTCAGACTGTACCAAACAACCATAGCTTTTAAAAGTCAAGACGTTGGGTGACATCCAATTAGATAACTGATAGCACCAACCACCTCCTGGATATTTCTACCCAGATGTCAGACTGTCCCCTCACCTTGTATGGGATAAAGGGAATGCACTGGCTTTTCCCGAAAGTCACATTCCCCTTCAGACTTCTCTGTCTCCATCAGTAAGGTTACCACCAAATTTTCAGCTAAACTCAAAATCTTTTTCTTCCCTACTCTGTTAATTACCAAATTCTCCCCTTCTTTCCCACATTGTTAGTTACTGAAACTTTCCTTCCTCTGAACCACTGAATGTTTATGCCCTCTGTTAATGCACTTACCATGCAGTATAATCACTGAACTTTTTTTCTTTGAGATGGGGTCTTGCTTTGTCATCCACACTGGAGTGCAGTGGCATAACCTTGGCTCCCTGCAGCCTCGACCTTCCTGGCTCATGCAATCCCCCCACCTCTGCCTCCCGAGTAGCTGGGACTACAGGTGTGCGCCATCACGGCCAGCTAATTTTTAAAATTTTTTGTAGAGACGAGGTCTTGCCATGTTGCCTAGGCTGGTTTTGAACTCCTGGCCTCAAGTGATCCTCTACTTTGGCCTCCCCAAGTGCTCGGATTACAGGCATGAGCCACTGGACCTAGCCTGAACTTGAACTCTTCTCCTTGGTTAAACATTCCACTGTTACCTGAACAGGCCATGACTAACACCACCTGCCTCTATGCCTCTTTCTCCAGCCCTGCAAGTCTGGAATTCTTGGCTTTCTACTCTTTATTTGCCCAAGCCCCATCTCTTTCCCTCGGCTTTACCTGACTCCAAGCCATTGAGGCTGAGCCCTACCCCACCCCTAAATTCTCTCAGCTGTATCTGCCTACAGCACTCAGCTCACACTATCACCTCACATTGCCATTCATCACTCTGTGGGATTCTGTTCGTCCACTGGATGAAGTTTATAGAAGTCCGAAGTTGTTCATGATGCCTTATTGTATTATATTCCTAGCGAGAGCACATGGTATCAGTTTTGGTAGTAAGGTGTAAATGGATTCTAGTTCCTACTCTATTAGTAATTTCTGTGACCATGGGCATAGTTTCCCCTCATGTAAAATGAAGAGGACGACTCAATGATCTCTTCAATATTCCCTTCAGTGCTGACTTTACAGAAGTCTACACATGGCTTTCCATGATAACGCTGCTGCAGCCCAGCCCATAGCTAGCTCTGGCATAAACTAACAGTGGGTTCAAAGGATGAACAACAATCTCGCCCAAGGCTGAGGATCATTTTCAATCAAAATTGGAATCATCTCTGCATTATAATTACAAAAGGGTTTTGGATTTTGCTTCACATGCTCATACAATGGACATTTAGAAACACAANNNNN | benign | 277,151 |
Gene EFTUD2 (elongation factor Tu GTP binding domain containing 2) variant at chromosome position 44876035 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Mandibulofacial_dysostosis-microcephaly_syndrome'] | GCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAAAGTGCTGGGATTACAGGCATAAGCTATCACGCTTGGCCTTCTTATTAAAATATATTTGTCATTTCATCCTTTGGACTCATGATGTCACACTGGGCTCTAGTCATTCTCAGTCCTTGCAGAGATGGGGTGAAGATATTCCTTTTGAAAAGTAGTGCTACACACTGGGAAGGCTCCTGAAGGTATCTGTCTCTAGCCACACAGGTTCCATCCCCAATCCTTAAATGGAGAGGCATTCTTTCAGTTGGAGAGGCATTCTTTCAGTAGGACGGCCTCCTCACAGGCCCATTTGAGGGGCTGCAGGAAGTCATCTAGCACATCTTTCAGCCTGTAGTAAGACTGTCTTTAAGATATATTTAACCTCTGTTTCAAAGGCCCTTTGATATTATATTCTAAGGTATCATAACCATCACTCATATGTATCAATGCAAGCCCTAAATCCATCTTGTTGAGAAGCAGGTATATCCACAGAAACACAGCAAACAGTTCTTAATTTATTTAGACTGTGTTAATTATAAGATAATAGCAGCTAACATTATTCAGCACATCAGCTGCTACATTGCAAGCACTGTGCTGTGTTCCATCAAATATCTATTTAATTTCTTATAACATCCCTTGTAAGTTATGTTAACTTATACTATAAATGCCTAATAATATTTGCTACTATTGCTGTTAGGCAAATATTATTCCTTTTTTACTGAAGCAGAAACTGAACTTAAGTAATCTGCCCAACTTTACATGGTTGGTATGTGGTGAAGAGGAGGCTGATTCTAGAGCCCAGGCTGGGTGCAGCGGCTCAAATCTGTAATGCTAGCACTTTGGAAGGCCAAGGTGGAAGAATTGCTTGAGGCCAGTTTAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTACAAAAAAAATATAAATAAATAAAAAATAAAAATTAAAATTAAAAAAAATTGGCCGGGGGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGCTCAGAAGGTCAAGACCAACCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGTGCCTGTAGTCCCGGCTACTTGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAATTAATTAATTTAAAAAATATATAGCCAGGTATGGTGGCACATGCCTGTGGTCCCAGCTATCAGGAGACTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCTAGCTTGGGTAACAGAGATCCTATCTCTAAAAAGAGAAGAAATTAATACAGCCCAAGTACTGATCATAATAGTAAAATGAAGATGTGTTAAAGTATGAAGTCAACCCCTGCAGAGTCCCAGGATGTGCCTCTAGTTTTGCCCAACAAACTCATCAACACACGCTTAGAAATAAATCACAGTTGTTCCCAGAGGTATTCAGGGTTAAAACCCAGAGCCTCCGAGGACAGGAAATCCACTCCCAGGGGTTTTCTACCTTATTAATCCATTGACCTCATCCACAATGTGGCGCAGCTTGTAATAAGCATCAGTTGGAGGCAGCTTCAGCTCCAGGATCAGCCGGTCAATCTTGTTGATGCACACAGTGACTGCCAGCCTCTCCTGCACCGCATGCTTGATCAGCCGCTCTGTGTTCAGCATCACCTGAGAAAAACAAGGCTCAGAAGGTGGTAAGAAGAACAAGGAGGGCAGAAAGTTCAAAGCAGAACCAAAGAAGGCACTATTTCAAACCATGAAGCCTGGGGAGAAAAAAAGACCTCGGGAAATATTACTGGGTGGAAGCAGAGAGCATCCTGCCCGAAGATAGACACAGGAACTTTAAGAGGGCACCTTGCAGGATTGAGAAATGAATAAACCCATGAACAATGATGTTGGGAGCCAGGTTTCTCAGTGCTAAAGAAGGAACTAAGAAGGCTGGGAAGAGCCAGTGGTGCTGAAATGGAATTGGGGGTATTAGGATTAATGCATGATTTTTAATATATGTGTGTAGAAATAGTTATAGATATGTATGAGTGTATATAACCTAGCTGTGCTCAGTGAGAGGGCCTAGAAGCAATGTACCCCAGTAGCAATGAGCACATCCAAACCTTTGTTTCTAAATACTAATCCCCACTGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCGACTAAAAATACAAAAAGATGAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTACTCCCCACTATGAGCCAGAGCTGCTAGGCTAGGTGCAGTCACTCACACCTGTAATCCCAGCATTTTGGGGAGGCCAAGGCAGGAGGATTGCTTGAAGCCAGAAGTTCAAGACCATCCCCGGCAACAGAGCGAGACCCCATCTCTCAAAAAAATATTTAAAAATAAGCTGGGCATGTTGGCACATACCTGTAGTCCCAGCTATTTGGGAGGCTGAAGTGAGTGAATCACTTGAGCCCAGGAGCTCGAGGCTGCTGTGAGGTATAATTGTACCATTGCACTCCAGCCTGGGCCAGAGGGCAAGATGCCATCTCTTTGAAGGAAAAAAAAAAAGCCAGAGCTCCTTGAAGAAATGGCTGAGTCCAGGATTGGGACAAGGAAAGATAACGTCTAGAACATCTTTTTGTGCTTGAAAGTAAGGAAGTGCTCAAAAAACGATGAGGCGTGAAAAAGATGATGGAATCAGCCTGAAGGAGCTCTCAGTAGCCAAATCTGGGACAAGAGCACTAGAGCACCGGAATCCATAAGGACAGTAACAGATTATAACTCACTGAATAAAATGCAAACCCAAATATCCACAGTGATAATAAGCAAATGGGGGAGAAACAAAAGCACTTCTTTACAACATAATTCCAACCAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACTACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGGCAGAGGTTGCAGTAAA | GCCTCCCAAAGTGCTGAGATTACAGGCGTGAGCCACCGTGCCCGGCCTCTTTTTTTTTTTTTTTTTTTTTTAAGAGACAGGATCTCACTCTGTCACCCACATTGGAGTACAACAGCACAATCATAGCTCACTATAACCCTGAACTCCTTGGCTCAAGTGATCCTCTTGCCTCTGCCTCCCGAGTAGCTAAGACTACAAACACATGCCAGCACGCCAAGCTAATTTCAAAATTATTTTTTGTAGACACAGAGTCTAGCTATGTTGCCCAGGCTGGCCTTGAACTCCTAGCCCCAAGGGATCCTCCTGCCTTGACCTCTCAAAGTGCTGGGATTACAGGCATAAGCTATCACGCTTGGCCTTCTTATTAAAATATATTTGTCATTTCATCCTTTGGACTCATGATGTCACACTGGGCTCTAGTCATTCTCAGTCCTTGCAGAGATGGGGTGAAGATATTCCTTTTGAAAAGTAGTGCTACACACTGGGAAGGCTCCTGAAGGTATCTGTCTCTAGCCACACAGGTTCCATCCCCAATCCTTAAATGGAGAGGCATTCTTTCAGTTGGAGAGGCATTCTTTCAGTAGGACGGCCTCCTCACAGGCCCATTTGAGGGGCTGCAGGAAGTCATCTAGCACATCTTTCAGCCTGTAGTAAGACTGTCTTTAAGATATATTTAACCTCTGTTTCAAAGGCCCTTTGATATTATATTCTAAGGTATCATAACCATCACTCATATGTATCAATGCAAGCCCTAAATCCATCTTGTTGAGAAGCAGGTATATCCACAGAAACACAGCAAACAGTTCTTAATTTATTTAGACTGTGTTAATTATAAGATAATAGCAGCTAACATTATTCAGCACATCAGCTGCTACATTGCAAGCACTGTGCTGTGTTCCATCAAATATCTATTTAATTTCTTATAACATCCCTTGTAAGTTATGTTAACTTATACTATAAATGCCTAATAATATTTGCTACTATTGCTGTTAGGCAAATATTATTCCTTTTTTACTGAAGCAGAAACTGAACTTAAGTAATCTGCCCAACTTTACATGGTTGGTATGTGGTGAAGAGGAGGCTGATTCTAGAGCCCAGGCTGGGTGCAGCGGCTCAAATCTGTAATGCTAGCACTTTGGAAGGCCAAGGTGGAAGAATTGCTTGAGGCCAGTTTAAGACCAGCCTGGGCAACATAGCAAGACTCCATCTCTACAAAAAAAATATAAATAAATAAAAAATAAAAATTAAAATTAAAAAAAATTGGCCGGGGGTGGTGGTTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGTGGGCGGATCACGAGCTCAGAAGGTCAAGACCAACCTGGCTAACACAGTGAAACCCTGTCTCTACTAAAAATACAAAAAATTAGCCGGGCGTGGTGACGGGTGCCTGTAGTCCCGGCTACTTGAGAGGCTGAGGCAGGAGAATGGCATGAACCCGGGAGGCGGAGCTTGCAGTGAGCCGAGATCATGCCACTGCACTCCAGCCTGGGCGACAGAGCGAGACTCCGTCTCAAAAAAAAATAAATTAATTAATTTAAAAAATATATAGCCAGGTATGGTGGCACATGCCTGTGGTCCCAGCTATCAGGAGACTGAGGTGGGAGGATTGCTTGAGCCCAGAAGTTCGAGGCTGCAGTGAGCTGTGATTGTGACACTGCACTCTAGCTTGGGTAACAGAGATCCTATCTCTAAAAAGAGAAGAAATTAATACAGCCCAAGTACTGATCATAATAGTAAAATGAAGATGTGTTAAAGTATGAAGTCAACCCCTGCAGAGTCCCAGGATGTGCCTCTAGTTTTGCCCAACAAACTCATCAACACACGCTTAGAAATAAATCACAGTTGTTCCCAGAGGTATTCAGGGTTAAAACCCAGAGCCTCCGAGGACAGGAAATCCACTCCCAGGGGTTTTCTACCTTATTAATCCATTGACCTCATCCACAATGTGGCGCAGCTTGTAATAAGCATCAGTTGGAGGCAGCTTCAGCTCCAGGATCAGCCGGTCAATCTTGTTGATGCACAGTGACTGCCAGCCTCTCCTGCACCGCATGCTTGATCAGCCGCTCTGTGTTCAGCATCACCTGAGAAAAACAAGGCTCAGAAGGTGGTAAGAAGAACAAGGAGGGCAGAAAGTTCAAAGCAGAACCAAAGAAGGCACTATTTCAAACCATGAAGCCTGGGGAGAAAAAAAGACCTCGGGAAATATTACTGGGTGGAAGCAGAGAGCATCCTGCCCGAAGATAGACACAGGAACTTTAAGAGGGCACCTTGCAGGATTGAGAAATGAATAAACCCATGAACAATGATGTTGGGAGCCAGGTTTCTCAGTGCTAAAGAAGGAACTAAGAAGGCTGGGAAGAGCCAGTGGTGCTGAAATGGAATTGGGGGTATTAGGATTAATGCATGATTTTTAATATATGTGTGTAGAAATAGTTATAGATATGTATGAGTGTATATAACCTAGCTGTGCTCAGTGAGAGGGCCTAGAAGCAATGTACCCCAGTAGCAATGAGCACATCCAAACCTTTGTTTCTAAATACTAATCCCCACTGGCCGGGCACAGTGGCTCATGCCTGTAATTCCAGCACTTTGGGAGGCTGAGGTGGGCGAATCACGAGGTCAGGAGATCGAGACCATCCTGGCTAACACGGTGAAACCCTGTCTCGACTAAAAATACAAAAAGATGAGCTGGGCGTGGTGGCAGGCACCTGTAGTCCCAGCTACTTGGGAGGCTGAGGCAGGAGAATGGCGTGAACCCGGGAGGCAGAGCTTGCAGTGAGCCAAGATCGCACCACTGCACTCCAGCCTGCTGGGCGACAGAGTGAGACTCCGTCTCAAAAAAAAAAAAAAAAAAAAAAAAAACTACTCCCCACTATGAGCCAGAGCTGCTAGGCTAGGTGCAGTCACTCACACCTGTAATCCCAGCATTTTGGGGAGGCCAAGGCAGGAGGATTGCTTGAAGCCAGAAGTTCAAGACCATCCCCGGCAACAGAGCGAGACCCCATCTCTCAAAAAAATATTTAAAAATAAGCTGGGCATGTTGGCACATACCTGTAGTCCCAGCTATTTGGGAGGCTGAAGTGAGTGAATCACTTGAGCCCAGGAGCTCGAGGCTGCTGTGAGGTATAATTGTACCATTGCACTCCAGCCTGGGCCAGAGGGCAAGATGCCATCTCTTTGAAGGAAAAAAAAAAAGCCAGAGCTCCTTGAAGAAATGGCTGAGTCCAGGATTGGGACAAGGAAAGATAACGTCTAGAACATCTTTTTGTGCTTGAAAGTAAGGAAGTGCTCAAAAAACGATGAGGCGTGAAAAAGATGATGGAATCAGCCTGAAGGAGCTCTCAGTAGCCAAATCTGGGACAAGAGCACTAGAGCACCGGAATCCATAAGGACAGTAACAGATTATAACTCACTGAATAAAATGCAAACCCAAATATCCACAGTGATAATAAGCAAATGGGGGAGAAACAAAAGCACTTCTTTACAACATAATTCCAACCAATAGGCCAGGCGCAGTGGCTCATGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGACTACTTGAGGTCAGGAGTTCAAGACCAGCCTGACCGACATGGTGAAACCCCATTTCTACAAAAAATTCAAAAATTAGCCAGGTGTGGTGGCAGGCGCCTGTAGTCCCAGCTGCCTGGGAGGCTGAGGCAGGAGAATCACTTGAACCTGGGAGGCAGAGGTTGCAGTGAGCCAAGATTGCGCCACTGCACTCCAGCCTGGGCGGAAGAGCAAGACTCCATCTCAAAAAAACAAAACAACAACAACAACAACAACAACAAACAACAATGGCTGGAAGCGGTGGCTCACGCCTGTAATCTCCACACTTTGGGAGGCCTAGGTGGGCAGATCACTTGAGGTCAGGAGTTCGAGACCAGCCTGGCCAACATGGTGAATGAAACCCTGTCTCTACTAAAAATACAAAAATTATCCAGGTGTGGTGGCGTGCACCTGTAATCTCAGCTATTTGGGAGGCTGAGACAGGAGAATTGCTTGAACCCAAAAGGCAGAGGTTGCAGTAAANN | pathogenic | 277,165 |
Gene mutation in EFTUD2 (elongation factor Tu GTP binding domain containing 2) at chromosome 17, position 44885341—is it benign or pathogenic? If pathogenic, specify the disease(s). | benign | AAATAATTAACACTGAAGCCACAGGATTATTTTCAAATAAAAGATGAAATCTTTCTTAGACAGGCATCCCTCAGGAAATGAAAACTTATAAAAATCAGAGTAAGGCTCAATTTCCCATCTTCTGTCCAGATGTAGACATAAGGCTCAGGCATGCAAGTGGCTTAGGAACAGGCTCCACCTGCTGCTTGGGAAAAGCCAGAATTTCACAGTATGACTTCGTAACAGGCATGCAGCACCCCTAGTCAGGAGGTTGAGCCTTGTGACCTCAAACCTCAACCGCTGTGACTCTAAGGGCTAAAACATGAGCAGGTACAAAAGAGAAATCCTGTTCCAAGTAGCTGAAAGTTCCGTCTTACCTTGCCATGGTGGAGATGTCCACAAAGGGTCACATTTCTGATGAGCTCTGAGTTATCCATCAGATCCGCCAAGAAACTGAAAGGACAAAGGAAAAGAGAAAAGAGAGATTGGCAAACGTTTCCAAATGAGGAGTGGTGTAAAGGTGTTTCAGGTATTTTTTGGCCAGGAACAACTTTCAGACCAACTGGAGAGTGCTCAGGCAGATGTGAATGTCTATACTTACATAGCTCTGGCTTTGGGAATGCAAGAAACTTATCCAAGAGGTAACACAATCTGTGAATGGACTATCACGGGGATTTCAATAGTAAAACAGCAAGACTAAAAAAGGAAGAAGAGGCTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGGCCGGGAGCAGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCCACCACGACCAGCTAATTTTTGCATTTTCAGCAGAGACGGGGTTTCACCATGTTGGTCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCCTGGCCTCCCAAAGTGCTGGCATTACAAGCGTGAGCCACCACACCCAGCCAGGACTTCCAACATGGTGAAACCCCATCTCTACTAACAATATAAAAATTAGCTGAACGTGGTGACATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGTAGAGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCGCATCGAAAAAAAAAAAAAGAGAGAGAGAGAGCACCTAAATGATCCTACACATATATCTACCTCCTTTTGCTCTCCTTTTCAAAATAAAGAGTTGAGGGCCGGGCATGGTAGCTCACGCCTGTAATCTCAGCACTTTGGGAAACTAAGGCAGGAGAATCATTTGAGCCCAGGAGTTTGAGACCAGCTTGGGCAACATAGTGAAACAGTACAAAAAACACAAAAATTAGCCAGGCGTGGTGGTGTGTTCCTGTAGTTCCAGCTGCTCAGGAGGCTGAGGCAGACACATCTATTGAGCCTGGGAGGTCAAGGCTGCAATGAGCCATGATTGTGCCACTGCACTACAGCCTGAGCAACAAAACGAGACCTTGTCTCAAAATAACAACAACAAAAACAAAATAAAGAGCTAATATATTCCTAAAATACTCAGCAGTCTTATTGAGTCCAAACAGGCTCTGGTGGATCCAACAGTGATAACTGCAATACCCAGATCTCTCTTGAAGGCTGGCTTTCAACATCAAACTAAAGATCTGGAAGAGGAAACAGCTAACATTTGGATGAACACCAAGAGAAAAGTTAAGATTGACCCCAAATATCCCAGCAGCCACACAAGCTGAAGGAGAATTTGAGAGCTATGTACGGCCACAATTTACTAGCTATTTCAGCCAAAAGCCACCTCTTATCTCTACAAAAACATGAACCCACAGCATTCCTGCAGAGAAGCTGAGAAACCTTGTAACTTACTCCATCTCATACACCGTAACAGGTAATGTCTGCTCCATCAGAGTGAATTTCTTGGTTTTCACTGGCTTAATAATGGGTTCTAGAAGAAAAAAAAAAGGTAGTGATGTGTAGGTGGGCATAAAACATAAAAATACGGAACACTATTCCATTAGACTGACCTTTCAGAATGTATGATGTATGACATCAATTTATTTTACTCTCAAGGATCACTCATATGTTGAGAAAGTTTTGGAAATGCTGTTTGGCATGAGACAGTGAAGGACCTTGAATTGTGGAAAGAGGAGTCTGGGCTTCATTTTGAGGGACAGTGGGAGGGAGGGAGGGGGAATGGATGTAGGTTGAGGTCAATGTCAGTTCAGGATCTTTCCTTGCATTTATAAGATGCAATCACTTTCCAAAAGATCAATGAAAACTTTTTTTTTTGGGAGACAGGGTTTCACTGTTACCCAGGCTGAAGCGTACAAATGGCGTGATCAAGTGATCCTCCTGCCTCAGTCTCCCGAGTTGCCAGGAGGCATCTACCACCATGCCCAGCTAATTTTTGTACTTTTTTTGTAGAGATGGGGTTTCACCATGTTGCCCAGGTTGGTCTCGAACTGCTGGGTTCAAGCGATCCTCCTGCTCTGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGCTTCCAGCCTATGAAAACTATTAAATGGACAATAAGGCTGGTTGCAGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGACAGGGCAGAGAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGACACCTATAATCCCAGCTACTAGGGAGGCTGAAGCAGAATTGCTTGAATCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACCGTAATCCAGCATGGGCGACAGAGCAAGACTTCGTCTCAAAAAAAGAAAAAGAAATGGACAATACATATTATGAGAACTGGTTAAAAGGGTTGGAGTTATTTGGATGGAAAAACATATCAGGCCACAGGGTAAATAAACTTAACGACAGTCTTCATGCACCTAAACTGATAGCAGATAAATAAGAAATAACTCTTATTTGCTTAGAAACTAGTTAAGAACTTTACTGAATATTAAAAAAGGATTAACTAAATCTTAAACCAGAAACAGTACCTGAAGGTAGTAAAGAAAAACTGATCAATTCATTCACTGAACTTTTAAGGTTTGCTGAGAGCTATGAAGTTTCCAGGTTTCAATTTCACTCCGCACAGCCCATGTCCTCCTGATGTACCTGTGAGAGGCTGAGTGTCTTCCTCTTGAACTATGGTCTCCACCTCAGGACCATACACCTCCTCGGCTGTTGGGTAGTACTTCTTGTCCTCATGCAGCACCACCTCCATCCCAGGGTGGTCATCGTCATGATCTCCTACGTCATCGTCGTCGTCATCATCATCCATCTGAAAGCAAGAGGGAGAGGGAGAATCGAAGAGGCACACGCTTTTCCTGTTTGATATCTGACTACCTCCGTGAGTGACAGCACTGACTGTACATGCTGGCCAGCTTCTTATTCTGAGTTCTATGCCAGTGGGGGAGGTTCCACTCCTTTGAGACCCTTCACAAAGAGAAGACTCTAAGCCGAGGCCATGGACAGTGCTCCTGGTTCAAACTTGCCCCTTTCTGAATGTGGGCCACTGGTCACAAGTGGGTTGAGACTGGAGAAAACAAATCACAGCACAGCCCTTTACGGGGAAAAAAGCAACTTTCTCCAAAGGCAGAAACCAAAAGCCAGAGGTAAAAACTGAAGATAAGCCCATACCTTTAAAATTTTCACTTATATCCACAGAATTGTTTTTGGAAAATAACTTTGTGATAGATAATAACAGGTGCTGGCAAGGATGTGGAGAAACTGAAACCTCCCACACTGCTGATGGGAAAAAGGTGCAGCTGCTTTGGAAAATATTTTGGTAGTTCCTCAAAATGTTCAACACAGAGTTACATATGACCCAGCAAGTCCACTCCTAAGTATATACCCAAGACAAATGAAAACTTATGGCCACACAAAAACTTAGAAATCAATGTTCATAGTGGCATTATT | AAATAATTAACACTGAAGCCACAGGATTATTTTCAAATAAAAGATGAAATCTTTCTTAGACAGGCATCCCTCAGGAAATGAAAACTTATAAAAATCAGAGTAAGGCTCAATTTCCCATCTTCTGTCCAGATGTAGACATAAGGCTCAGGCATGCAAGTGGCTTAGGAACAGGCTCCACCTGCTGCTTGGGAAAAGCCAGAATTTCACAGTATGACTTCGTAACAGGCATGCAGCACCCCTAGTCAGGAGGTTGAGCCTTGTGACCTCAAACCTCAACCGCTGTGACTCTAAGGGCTAAAACATGAGCAGGTACAAAAGAGAAATCCTGTTCCAAGTAGCTGAAAGTTCCGTCTTACCTTGCCATGGTGGAGATGTCCACAAAGGGTCACATTTCTGATGAGCTCTGAGTTATCCATCAGATCCGCCAAGAAACTGAAAGGACAAAGGAAAAGAGAAAAGAGAGATTGGCAAACGTTTCCAAATGAGGAGTGGTGTAAAGGTGTTTCAGGTATTTTTTGGCCAGGAACAACTTTCAGACCAACTGGAGAGTGCTCAGGCAGATGTGAATGTCTATACTTACATAGCTCTGGCTTTGGGAATGCAAGAAACTTATCCAAGAGGTAACACAATCTGTGAATGGACTATCACGGGGATTTCAATAGTAAAACAGCAAGACTAAAAAAGGAAGAAGAGGCTGGGCATGGTGGCTCATGCCTGTGATCCCAGCACTTTGGGAGGCCGAGGTGGGTGGATTACCTGAGGTCAGGAGTTCAAGACCAGCCTGGCCAACATGGTAAAACCCTGTCTCTACTAAAAATACAAAAATTAGGCCGGGAGCAGAGGCTCACGCCTGTAATCCCAACACTTTGGGAGGCCGAGGCCACCACGACCAGCTAATTTTTGCATTTTCAGCAGAGACGGGGTTTCACCATGTTGGTCAGGCAGGTCTCGAACTCCTGACCTCAGGTGATCCACCTGCCCTGGCCTCCCAAAGTGCTGGCATTACAAGCGTGAGCCACCACACCCAGCCAGGACTTCCAACATGGTGAAACCCCATCTCTACTAACAATATAAAAATTAGCTGAACGTGGTGACATGCGCCTGTAATCCCAGCTACTCAGGAGGCTGAGGCGGGAGAATCACTTGAACCTGGAAGGTGGAGGTTGTAGAGAGCTGAGATCATGCCACTGCACTCCAGCCTGGGCAACAGAGTGAGACCCCGCATCGAAAAAAAAAAAAAGAGAGAGAGAGAGCACCTAAATGATCCTACACATATATCTACCTCCTTTTGCTCTCCTTTTCAAAATAAAGAGTTGAGGGCCGGGCATGGTAGCTCACGCCTGTAATCTCAGCACTTTGGGAAACTAAGGCAGGAGAATCATTTGAGCCCAGGAGTTTGAGACCAGCTTGGGCAACATAGTGAAACAGTACAAAAAACACAAAAATTAGCCAGGCGTGGTGGTGTGTTCCTGTAGTTCCAGCTGCTCAGGAGGCTGAGGCAGACACATCTATTGAGCCTGGGAGGTCAAGGCTGCAATGAGCCATGATTGTGCCACTGCACTACAGCCTGAGCAACAAAACGAGACCTTGTCTCAAAATAACAACAACAAAAACAAAATAAAGAGCTAATATATTCCTAAAATACTCAGCAGTCTTATTGAGTCCAAACAGGCTCTGGTGGATCCAACAGTGATAACTGCAATACCCAGATCTCTCTTGAAGGCTGGCTTTCAACATCAAACTAAAGATCTGGAAGAGGAAACAGCTAACATTTGGATGAACACCAAGAGAAAAGTTAAGATTGACCCCAAATATCCCAGCAGCCACACAAGCTGAAGGAGAATTTGAGAGCTATGTACGGCCACAATTTACTAGCTATTTCAGCCAAAAGCCACCTCTTATCTCTACAAAAACATGAACCCACAGCATTCCTGCAGAGAAGCTGAGAAACCTTGTAACTTACTCCATCTCATACACCGTAACAGGTAATGTCTGCTCCATCAGAGTGAATTTCTTGGTTTTCACTGGCTTAATAATGGGTTCTAGAAGAAAAAAAAAGGTAGTGATGTGTAGGTGGGCATAAAACATAAAAATACGGAACACTATTCCATTAGACTGACCTTTCAGAATGTATGATGTATGACATCAATTTATTTTACTCTCAAGGATCACTCATATGTTGAGAAAGTTTTGGAAATGCTGTTTGGCATGAGACAGTGAAGGACCTTGAATTGTGGAAAGAGGAGTCTGGGCTTCATTTTGAGGGACAGTGGGAGGGAGGGAGGGGGAATGGATGTAGGTTGAGGTCAATGTCAGTTCAGGATCTTTCCTTGCATTTATAAGATGCAATCACTTTCCAAAAGATCAATGAAAACTTTTTTTTTTGGGAGACAGGGTTTCACTGTTACCCAGGCTGAAGCGTACAAATGGCGTGATCAAGTGATCCTCCTGCCTCAGTCTCCCGAGTTGCCAGGAGGCATCTACCACCATGCCCAGCTAATTTTTGTACTTTTTTTGTAGAGATGGGGTTTCACCATGTTGCCCAGGTTGGTCTCGAACTGCTGGGTTCAAGCGATCCTCCTGCTCTGGCCTCCCAAAGTACTGGGATTACAGGCATGAGCCACCGCTTCCAGCCTATGAAAACTATTAAATGGACAATAAGGCTGGTTGCAGTGGCTCACGCCTGTAATCCCAGCTCTTTGGGAGGACAGGGCAGAGAGATCACTTGAGGTCAGGAGTTCAAGACCAGCCAGGCCAACATGGTGAAACCCCGTTTCTACTAAAAATACAAAAATTAGCCAGGCATGGTGGCAGACACCTATAATCCCAGCTACTAGGGAGGCTGAAGCAGAATTGCTTGAATCAGGGAGGCGGAGGTTGCAGTGAGCCAAGATTGTGCCACCGTAATCCAGCATGGGCGACAGAGCAAGACTTCGTCTCAAAAAAAGAAAAAGAAATGGACAATACATATTATGAGAACTGGTTAAAAGGGTTGGAGTTATTTGGATGGAAAAACATATCAGGCCACAGGGTAAATAAACTTAACGACAGTCTTCATGCACCTAAACTGATAGCAGATAAATAAGAAATAACTCTTATTTGCTTAGAAACTAGTTAAGAACTTTACTGAATATTAAAAAAGGATTAACTAAATCTTAAACCAGAAACAGTACCTGAAGGTAGTAAAGAAAAACTGATCAATTCATTCACTGAACTTTTAAGGTTTGCTGAGAGCTATGAAGTTTCCAGGTTTCAATTTCACTCCGCACAGCCCATGTCCTCCTGATGTACCTGTGAGAGGCTGAGTGTCTTCCTCTTGAACTATGGTCTCCACCTCAGGACCATACACCTCCTCGGCTGTTGGGTAGTACTTCTTGTCCTCATGCAGCACCACCTCCATCCCAGGGTGGTCATCGTCATGATCTCCTACGTCATCGTCGTCGTCATCATCATCCATCTGAAAGCAAGAGGGAGAGGGAGAATCGAAGAGGCACACGCTTTTCCTGTTTGATATCTGACTACCTCCGTGAGTGACAGCACTGACTGTACATGCTGGCCAGCTTCTTATTCTGAGTTCTATGCCAGTGGGGGAGGTTCCACTCCTTTGAGACCCTTCACAAAGAGAAGACTCTAAGCCGAGGCCATGGACAGTGCTCCTGGTTCAAACTTGCCCCTTTCTGAATGTGGGCCACTGGTCACAAGTGGGTTGAGACTGGAGAAAACAAATCACAGCACAGCCCTTTACGGGGAAAAAAGCAACTTTCTCCAAAGGCAGAAACCAAAAGCCAGAGGTAAAAACTGAAGATAAGCCCATACCTTTAAAATTTTCACTTATATCCACAGAATTGTTTTTGGAAAATAACTTTGTGATAGATAATAACAGGTGCTGGCAAGGATGTGGAGAAACTGAAACCTCCCACACTGCTGATGGGAAAAAGGTGCAGCTGCTTTGGAAAATATTTTGGTAGTTCCTCAAAATGTTCAACACAGAGTTACATATGACCCAGCAAGTCCACTCCTAAGTATATACCCAAGACAAATGAAAACTTATGGCCACACAAAAACTTAGAAATCAATGTTCATAGTGGCATTATTN | benign | 277,181 |
Variant chromosome 17, position 44901648, gene DNAAF19 (dynein axonemal assembly factor 19): benign or pathogenic? Disease(s)? | pathogenic; ['Primary_ciliary_dyskinesia_17'] | CTCCAAAGAGGGTGAGAGCTGAGGATGAACGAATCTGATCAGGCGCCTCGGGACCACCCTGAAAATGGGGGGAGGGGCCTTCGGGCAGATCACGTGGTCAGGCTGTTAGCGCAGTTGCTAGGCAACCACAGCTGCGGGCGTGGTCTGCGCGGGGTTGCCCTCCTGTTCTGGTTTATCAGGGGATCCCCAAAGAAAGCAAGGGGACCAAGGCCGGGACTGCTGGGGTGAAGGTCCGGGAGGCTGAGTAAGGGGACGGAAGGGTTAGTTCTATGTATTAAATGCCTGGGGAGGGCTGAGAACTGGACACCTGATTTCGGTTACTGGCCACCCCAGCCCCTTCTTGGCGTTCAGATTCCCTACGTTGGGGTAGGGTGGCTATGGGATTGGTTGGGGACTTCCTGCTTCCTTGCGCTAGGGCTGTTGGTGATGACCCCGCCACAAAATCTAGCTCAACTCACTAGGAGTTTGCAGTTCAGAGAGGTCCCACAAGTAAATGCCAGAGCCACGACTAGAACCCACGTAGAGAATCTCTCTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGCGCGGATTACTTGAGGTCAGGATCGAAAATTGCTTGAACCCCGGAGGCAGAGGTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGAAAAAAAAAAAAAGAAAAGAATATCTCTGTAGAAATGATCAGTCAGCCTCAGATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGA | CTCCAAAGAGGGTGAGAGCTGAGGATGAACGAATCTGATCAGGCGCCTCGGGACCACCCTGAAAATGGGGGGAGGGGCCTTCGGGCAGATCACGTGGTCAGGCTGTTAGCGCAGTTGCTAGGCAACCACAGCTGCGGGCGTGGTCTGCGCGGGGTTGCCCTCCTGTTCTGGTTTATCAGGGGATCCCCAAAGAAAGCAAGGGGACCAAGGCCGGGACTGCTGGGGTGAAGGTCCGGGAGGCTGAGTAAGGGGACGGAAGGGTTAGTTCTATGTATTAAATGCCTGGGGAGGGCTGAGAACTGGACACCTGATTTCGGTTACTGGCCACCCCAGCCCCTTCTTGGCGTTCAGATTCCCTACGTTGGGGTAGGGTGGCTATGGGATTGGTTGGGGACTTCCTGCTTCCTTGCGCTAGGGCTGTTGGTGATGACCCCGCCACAAAATCTAGCTCAACTCACTAGGAGTTTGCAGTTCAGAGAGGTCCCACAAGTAAATGCCAGAGCCACGACTAGAACCCACGTAGAGAATCTCTCTGCAGTGGCTCACGCCTGTAATCCCAGCACTTTGGGAGGCCGAGGCGCGCGGATTACTTGAGGTCAGGATCGAAAATTGCTTGAACCCCGGAGGCAGAGGTTGCAATGAGCCAAGATCGCGCCACTGCACTCCAGCCTGGGCAACAGAGCCAGAAAAAAAAAAAAAGAAAAGAATATCTCTGTAGAAATGATCAGTCAGCCTCAGATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGANNNNNNNNNNNNNN | pathogenic | 277,198 |
Considering the variant on chromosome 17, location 44902371, involving gene DNAAF19 (dynein axonemal assembly factor 19), would you classify it as benign or pathogenic? What disease(s), if any, does a pathogenic variant indicate? | pathogenic; ['Primary_ciliary_dyskinesia'] | ATCAGTCAGCCTCAGATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGA | ATCAGTCAGCCTCAGATATGCAGAAACTACAGAAGTACAGTGATAGAACTAAAGGCATTGCCCAGGTACCTAGGGACCTCTGTTCCAGCCCTGGGCTGGACAGAGGGATTTGGGGATGGGGTCATTGAGCTCCTTCCTTTGCCCCTTCTACTTGATTTCCTGCTCAGTCATTGCATCTGGTTTGGGTGAAAGTCTCCTTCCTCATTAAAGACATTCAATGAAGAATGAAACTTTATCCCCGAGCTCAAGGGTAACTAACAAGAGTTCTGCCTTTGTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAG | pathogenic | 277,203 |
Gene DNAAF19 (dynein axonemal assembly factor 19) variant at chromosome 17, position 44902645—is it benign or pathogenic? If pathogenic, what are the associated condition(s)? | pathogenic; ['Absent_inner_and_outer_dynein_arms', 'Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_17', 'Situs_inversus'] | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCCCACGCTACCTCAAGGCCGTGCCCGATGTGGTGTCTTGTGGCTCAAGGGCTGTGCCAAGGAAGCTGCGGACCAAGGCCAGGGACCACACGCCTGAGGTGCTGGTTCGGAGCTGCTTAGTACCCTGTGAGAAGACAAAGACCATCCGGGAGGGCGTGCTGGCCATCATTAACTATGTGTCCAAAGTGGGCAGCCGGCCCTGGGTGCCCCAGGTGCCCATTCAGTTCCACCAGCAGAGACTGGGCCATGGACTCATCATCTC | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCCCACGCTACCTCAAGGCCGTGCCCGATGTGGTGTCTTGTGGCTCAAGGGCTGTGCCAAGGAAGCTGCGGACCAAGGCCAGGGACCACACGCCTGAGGTGCTGGTTCGGAGCTGCTTAGTACCCTGTGAGAAGACAAAGACCATCCGGGAGGGCGTGCTGGCCATCATTAACTATGTGTCCAAAGTGGGCAGCCGGCCCTGGGTGCCCCAGGTGCCCATTCAGTTCCACCAGCAGAGACTGGGCCATGGACTCATCATC | pathogenic | 277,210 |
A genetic alteration at chromosome 17, position 44902645, in gene DNAAF19 (dynein axonemal assembly factor 19)—benign or pathogenic? If pathogenic, which disease(s) is involved? | pathogenic; ['Primary_ciliary_dyskinesia', 'Primary_ciliary_dyskinesia_17'] | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCCCACGCTACCTCAAGGCCGTGCCCGATGTGGTGTCTTGTGGCTCAAGGGCTGTGCCAAGGAAGCTGCGGACCAAGGCCAGGGACCACACGCCTGAGGTGCTGGTTCGGAGCTGCTTAGTACCCTGTGAGAAGACAAAGACCATCCGGGAGGGCGTGCTGGCCATCATTAACTATGTGTCCAAAGTGGGCAGCCGGCCCTGGGTGCCCCAGGTGCCCATTCAGTTCCACCAGCAGAGACTGGGCCATGGACTCATCATCTC | GTGTGAGGTCCCCTGTCGAAACGACTTGCTGTAGAACAATCCTATGGGGGAAGAGTGAAGAAACTGAATTCTGAGATCCCAATGCCTCCTCGACTGAAGCACCAAAATTAAAAATATTTTTAGAGGCAAAGAGCAAAATTAAGACAGAACTCCAAATTGAAAGTCAGGACTCTGTATTCTATTTTCAGGGACAAGTCTTGTGTAAGTCCTCACTGTGAAATTCAACTTGTCTTTGTAAAATAGAAAACCAGATTTTTGTAACACCTCCCAATCTGAGTGACATGATGTCCAGAGTGCTTTGGGGTCATTTTGTGTTCTGGTGAATAATTCAGAGGTACCCTCTTTCCCCTGATATTGACTGTCCACTGACATGTATTCCCTTTGCCTTCCCAGGCACAGGCCATGGAAAGGAATGACATCATCAACTTCAAGGCTTTGGAGAAAGAGCTGCAGGCTGCACTCACTGCTGATGAGAAGTACAAACGGGAGAATGCTGCCAAGTTACGGGCAGTGGAACAGAGGGTGGCTTCCTATGAGGAGTTCAGGTTGGCTCACTGCCATTTTTCTCAGGCCCTCCTGTTATGGTGGATTATAGTAGTTAACTCTGAAATCAAACCATTCTGGGCTTCAGTCCTGGCCCCACCGTCTACTGTTTGATCTTATGCAATTTCCTTAACTTCTCTGAGTCTCAATTATTTATCTGTAGAACAGTAACTGTTATAATTAAATGAGTTCTTGCACATAAGACTGAGCAAGTGTCTGACACATGTGAGGTGCTTGAAAGCAGTCAGCTATCGCTGTTGTTATTATTATGGTCATATTGGTCCGTAACAGGTTTATCCTATACCATGCAAAGTCTAGCTGCCTCACACCCACAGACACAGCATTAAGTCCATTGCCTAATTTCTGTCCTTTGCCTACAGGGGTATTGTCCTTGCATCACATCTGAAGCCACTGGAGCGGAAGGATAAGATGGGAGGAAAGAGAACTGTGCCCTGGAACTGTCACACTATTCAGGGAAGGACCTTCCAGGATGTGGCCACTGAAATCTCCCCGGTAGGTGAGGCCCTGCCCCTTTAGTCCAGCAGGATTCTCTGCCCTAAAGCTTCAATCCTGTTTTTTCATTTTGTTTTGTTTTGTTTTGTTTTTTTAACCACACATACCTCTTCTTTATTTGTCATGTTAAACCAACAGAGATAGGTTTCTGCCTCCAATCCCAGAAAGAAAAACAAACAGCAGATGGCAAAGCTGAGTTGAAGTGGGCAGAATGAGTCAGAAAGTTGGGCTAGGAAGGTCGGCTTCCCTTAGTCCTTTGACTTTCATTCTCAGATCAGAATTGGGATGCTCTGCCTCTGGGTTGTATGGTGTCTAGTGTAATGATCCTGTGGCAGTGTTGAGAGAGAGACCCCAACATTCAGATCCTTGAGTTCCTTTCTCTCTTCCTGAGATTTCCAATCAACCCATCCACCCGACTTACAGTAAACCCTGACTTACTCTTGAAGACCAGAGCTATGTCTCCATTCATGAGTAGGAAAATTCCAGTATAAATGAGAATCTCAAATCATGGCGTGGATTCCTTGGGGCCCTCCCTGTTTCATCCCCAGTTTCCTCATCTGAAAATGAGGCCGCCAAGGACCACAGCTTTCCCAGTGCTCAGACAGTAGTGAGATGAAGACAGTAAGATGAAGAGCTACAGGCTCCCCTCCCTGTCACTGTTGCAGAACAGCTGGAAGAGCTCCTGACTCCCTTTCCTTCCTTTGTGGTCCAGGAGAAAGCCCCCCTCCAGCCCGAGACGTCTGCTGACTTCTATCGTGATTGGCGACGACACTTGCCAAGTGGGCCAGAGCGCTACCAGGCTCTACTGCAGCTTGGGGGTCCAAGGCTCGGCTGCCTCTTCCAGACAGATGTGGGATTTGGACTTCTTGGGGAGCTGCTGGTGGCACTGGCTGATCACGTGGGGCCGGCTGACCGGGCAGCGGTGCTGGGGATCCTATGCAGCCTGGCGAGCACTGGGCGCTTCACCCTGAACCTAAGCCTGCTGAGCCGGGCAGAGAGAGCTGCAAGGGCTTGTTTCAGAAGCTGCAAGCCATGGGCAACCCCAGATCCGTGAAGGAGGGGCTCAGCTGGGAGGAGCAGGGTCTGGAGGAGCAGTCTGGTGGGCTCCAGGAGGAGGAGAGGCTCCTGCAGGAGCTGCTGGAGCTGTACCAGGTTGACTGATGCGGCAAGCTACCCTCAGAGGTCCCAGTGGTCACTGGAGGCAGTTTTTTGGTTGTTGTCTTGGGGGTTCTGCAGGACCATAATAAGAAACCCACACCTGGTTCCCTTCTCAACTTGGAATTTTCAGAGCAAAAACAGGAATCAAGTCTTCCCCACTTCTCCAGTCCCTCAGTGTCTCGCTGTTTTGAACTGTGTGTATCCATGGACAGTCAAGAGCTCAGGAAGTTGAGAGCGGTTTTGTTTCCCACCCTTAGAGTCTGCCAAGCCTCTAGCCCACTGGCCTTGAGAGATGAGTGTGTGCCCAACCAAATGCTGGCTATACCAGTTACAGCCTCCACTCATAAAAGGGAAAAAGCAAAATCTTTATGGTAAACAAACACTGATCTCCACAGCTCTTAACAAGAATGTTTATAGCCCCAAACCAATGAATGGACATGTAATCAACAAATGATCAAATACTACATCATTTGAGGTGTTGAATTTTCCCCTAGAGACTCAGTTCTTGTGCAGGTTGGGCCTGGGAAAGTCCCAAGCCATCAGCTCAGGTCCAGCCAGCCTCCCGGATGGCCAGATATGCAGGAGGGTGGGTTTCCTTCATCCCCCAGGTTGATGAAAGACTTTTCCACCAGGCTGGCAGGGCAGGGCCTGGAGCACTGAGGCAGAGATCTCCCTGCCCGAGCACCTCGGCCCGCCCTTCTCATTCCGGTTTCCTTTGACCCATTCTTGGGTGAGCGCCAGTGTTCTAGAAAGGGGAGTAAAGGCCAGGTTCTAGAATGGCTTTCCCCCCCCACCCTGAGATCAGGTCTGGAATGTTAGAAGGGCATCTTGTACATCCACTGGGAATAAATTGCCTTGCACTTGGCGGCTTCCTCTGCAGATTGTTGCTGCTTTTCCTGGCTGCATAATCCTTTCCTCATCTAGAGGCTTCCGCTTAGCAGAGCTTTCTAGGAGCCCTATGAGCCTTTAATGCCCTGGTTTTGCCCTGCCCCTCTGACCCCTGCCTCCTTCAGGTATGCACCTGGCCCTCACCACTGTGCTCCTGTGGGCATGGGGGCTCCAGGCCTTTGAAATTGTGGAGAAGGAAAACATTTTTCAGAGGACCCCCTGCCCTGCTTTCCTGATGTTTGAAAATGCAGCCTACCTGGCCGACATGAGCTTTGAGCTTCCCTGTCACTGCAAACCCGAAGAGGTGCCAGCTGTAGTCTGGTTCTACCAAAAGCACCTAGGTAGCAGCCACACCAAAGTGCTGACGGACTTTGATGGGCGGGTGCTGACGGAGGCAGCCCAGGTACGTGTGGGCAGCGACATGCTGACCCGCTTCAGCATCCGCATGTTCAGCTTGTTGGTTTTCAGGGCTCAGTCTGAGGACTCAGGCCTGTACTTCTGCGGCACCCGCAAGGGGGACTACTTTTACGCCTACGATGTGGACATCCAGAACAGTGAGGGAATGGTGGCCACTTTCCAGGACAAGGGCCAGGAGCCCTTTGCAGATGAATACTATGGGCACCTCCATGTCTTCACCACCTTCTGGGAATGGACCCCCTGTGACCGCTGCGGAGTGCGTGGGGAGCAGTGGCGCATCGGCCTCTGCTACCTGCAGAGCCCAGACCTCTCCCCACGCTACCTCAAGGCCGTGCCCGATGTGGTGTCTTGTGGCTCAAGGGCTGTGCCAAGGAAGCTGCGGACCAAGGCCAGGGACCACACGCCTGAGGTGCTGGTTCGGAGCTGCTTAGTACCCTGTGAGAAGACAAAGACCATCCGGGAGGGCGTGCTGGCCATCATTAACTATGTGTCCAAAGTGGGCAGCCGGCCCTGGGTGCCCCAGGTGCCCATTCAGTTCCACCAGCAGAGACTGGGCCATGGACTCATCATCTCNNNN | pathogenic | 277,211 |
Regarding the variant found on chromosome 17 at position 44910155 in gene GFAP (glial fibrillary acidic protein): is it benign or pathogenic? If pathogenic, identify the disease(s). | benign | TTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCGTTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGC | TTGAGGTGGCCTTCTGACACAGACTTGGTGTCCAGGCTGGTTTCTGCAGATGTGGGGAGAGGAGGCCTCTCATGGACTTTCAGGGCATGAGCCATCCTCTCCCATGCCCGGCTTCCCCATCGCACCCCCCTCCCCATCATGAGTATGAGAACCTATGCAACCGAGCAGAGAGAGCCTAGGCTCTTCCAAACGGGCTGGAGAGCCCCCAAATCCCAATAGTGCTGCTGCCAGAGTCCTGGCTGCTCTGTCTTCTGGCCTGGCTTCATTTCAGCCCCTCTGCAAGCCCTGGCCTGGCACCTGGCTTTCTGAAAACCCAGCACGGTATTGAAATCAGGAGACCAGGAGGGGTGCGGTGGCTCACACCTATAATGCCATCATTTTGGGAGGCTGAGGCAGGTGGATCACCTGACGCCAGGAGTTCGAGACCAGCCTGGCCAACATAGTGAAACCTCTACTAAAAATACAAAAAATAGGCCAGGCATGGTGGCTCACACCTGTAATCCCAGCACTTTGGGAGGCCGAGGCAGGTGGATCGCCTGAGGTCAGGAGTTTGAGACCAGCCTGACTAATATGGTGAAACCCTGTCTCTACTAAAAATACAAAAATTAGTCAGGCATGGTGACAGGTGCCTGTAGTCCCAGCTACTCAGGAGGCTGAGAGAGGAGAATCACTTGAACCTGGGAGGCGGAGGTTGCAGTAAGCTGCGATCGTGCCACTGCACTCCAGCCTGAGCAACAGAGTAAGACTCCGTCGAAAGCAGGCAAGCAAGCAAGCAAGCAAGCAGGAAAGAGAAAGGAAGGAAGGAAGGAAGGAAGGAAGAAAGAAAGAAAGAAAGAAAAAGAAAGATTAGCCAGGTGTGGTGGCTCGCACCTGTAATCCCCTTACTCGGGAGTCTGAGGCACGAGAATTGCTTGAACCTGGGAGGTGGAGGTTGCAGTGAGCCAAGATTGCACTACTGCATTCCAGCCTGAGTGACAGAGGGACGCTCTGCCGAAGGAAGGAAGGAAAGAAGGAAGGAAGGAAGAAAAGAAGGAAGGAAGGAAGGAAGGATCAGGAGACCAGAGCTCAAGAAGTCCCAACTTAGCCACCAACCAGCCACATGACTCTGGGCAAGTTAATTGACCTCTCCCAGCCTCAGTTTCCTCATCTGTAAAATAAGGATGATGGGGCCTACTTCTCTAGGTGGGAGAGAGGAGACAATTAACTAAAATAAAGGCTGTTAAACATGTGGCACATATTAGTGCTCAATACACATAGGTCCCTTTCCTGTCCCCTTTCCTCTTTCCTACTTCTCTCTGCCATTTATCTGTGCTTTAGTGACCTGTGACTATCTAGGATTTGGCAGTATTACCTCTACTAGTCAGCCTGGTTAGCCTTTCTGATGCTGAATTAAGTCCTGAGACATGCATATCTAGTGGTCCTAAATATTCTAGTCCAGAAGAAGAGGAATTTTGTTCCTTAGCTAAGAATCATTTCAGGGCCAATGCAAGTAAAAAGTAATTTAGCTCCCCCCTCCCCCCGCCCCGCCCGAGAGAGAAAAATATAACACGTCACATTCACTAATATTTAACATTAAGAGCAGGGAACATAAAACTTTATTCACTGCAAGAGCTGCGGTCCTGAGGGAAGAATCCTCTGAACTGAGTCAGCACTGAGCTGAGCGATGGAGCCTCAGGGATGAAAGAATAAAGCAGAGAGCCTGGCGTCCAGGCACAGCGAGACCCAAGGGGCCCTCCCAGTGACAGGAAGAGGTGAGACAGAGGCTGCTGCTTGCTCAGAGGCCCCAGAGCAGCTCCACTGCGCACCCAAGGACTCACCACCTTTACCACTAACAAGCTCTGCCAGTTTAATGTACAGTTACTCTGTACCACGTCCTGGGCTGGGCACTGCAGTTCCTGGGAAAATGACGCAGTCCAGGCCCTTTAGGGGAAGCCTGGGAAGAGGGAACTCAGGGGGATTGGGAGGATGGGGTGGGTGAGGCTCACTCCCTGTCAAGCTGGGCAAAGCGCCGTGTCTGAGAGGCAGGCAGCTAACCGCGAGCCGGCGGCACTCCATTTACAATCTGGTGAGCCTGTATTGGTATAACTCGTATTGTGAGGCTTTTGAGATATCTTGTGACCTTGTGATTTTCCCCGTCTTTGGTGCTTTTGCCCCCTGTAGTGACAAGCAGTTAAAAAAACAAAAACAGAAAACACTCAGAAGGGCAGTGCTTGCTCAGGGATCTGCAGACAGGGCAGATGTCAAGCTCTCACCCAGTTCTGCTGTCGAATGGGGTGCAGGGAGGGGAAGAGGGACCAGGGCCTAGCAGGACAGGGGCAGCTGCAAGCCCCACCTAGAAGTACCCTGGTATGATAGGCTCTGGCTAGGAGCGCTGCAGTGTCACGAAGGCCCCCAGGGAGAGCTGGATCCCTTTGCCCTGATCCTCAGTCCCAGTCTGGAGCAACCTACAGGCCCTGGAGGAGGGGGCAGGACTCCAGTGCCCTTCCCACGAGGCCCTGCTGTACTGACCTCGAATCTGCAGGTTGGAGAAGGTCTGCACGGGAATGGTGATCCTGAAAGAAAGCAGAGGGAGAGGGCTGCCCGGGCTGCCTGGGACACCCCTAGGCTGGGTCTTGGTGCGGGGCCATCATGACAACTTGAACGCCCTTTTCCTTGCCAGGAAAGTCTAACTCCATCTCCTAGCTTTTTCCCCAGCAGCCAACGTGCTATCTGGAGTTCCAAACGTCTGCAAGGGGCTTGAGTGTTATCTGGGAGGGGCGCATGTCTATCTGAAGGAAGATGGAAAAGGGAGGGGAAAGTGGTGAAGAAAGTTCCAAGGAGGCAGAAGAGATGGGTGAGGTGAGGAGTCCAATCTTGGCTGGGAAGATGGGGAGTATGCCTCTTAGTTTGGAGGGTGACCCAAGTCCTTGGCCTTGAGGCCTAATCAATATTGGTTGAATCCATCCATCCATTCAGTCATCAAACATCTAGTGACTGCCTGCTATGTGTGAGGCAGGCACTGTGCTGGGCATTGAGGTGGGAAGGGATCTGCACACAAGGCTGAAAAAGACTCAGTCCCTGAAGGGAGCAAGATGAGCTCTACCGTGAGGCAGCAGGGAGACTTCCCCAGGGGCTGTGATGAGGGCTCACCGGTTCTCCTCGCCCTCTAGCAGCTTCCTGTAGGTGGCGATCTCGATGTCCAGGGCCAGCTTGACATTGAGCAGGTCCTGGTACTCCTGCAAGTGGCGGGCCATCTCGTCCTTGAGGCTCTGCCCCTCTTCCTCCAGCCGCGCCAGCGCCTCCTGATAACTGGCCGCCTCCCGCACGTGCCGCTCCTCCTGCTCGCGCATCTGCCTCTCCAGGGACTCGTTCTGTGGGATGGAGCCGGCCGGTCCCGCGGAGCCCCGACCCGACTTGGGGAGGTTTCGAGGCCCGGCCCCCGGCCCCAGGCCCCGCCTCTAGCCCGGGGGTAACGTTCAGGCCCCGCCCTCGACCCAGGTCCTCGTCCCTGGCCCTTCTCCCCTGGCATCTCCTGGGGTGGCCGTCCCTGCTCCGCCCGTCCCCGTCCTGCCCTGGCCGCGCTCACCGTGCCGCGCAGAGACTCCAGGTCGCAGGTCAAGGACTGCAACTGGCGCCGGTAGTCGTTGGCTTCGTGCTTGGCCTGGCGGAGCAGCTCCGCGTTGCGGGCAGCAGCGTCTGTCAGGTCTGCAAACTAGGTGGGGGACACATATGGGGGGCTGTGTGGGCCCATGGGCAGGCACGGGCTCTGGGAAATCAGGGAGGTGAGCAGCACCCCAGTTAACCCCAGGACGTTGGCCCTGGCTGGGACTTTTCCCAACAACTGTGACCCATGGATGCGGGCAGGGTAGCGGGCTGCCAGACCTCAGCACCTAGCACAACACCTGGTCAGCAAGCGAATGAATGAACAGTGCCACAGAATCCAGAACCTTCCACACTGACAGCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGC | benign | 277,233 |
Located at chromosome 17 position 44914095, the variant affecting gene GFAP (glial fibrillary acidic protein)—benign or pathogenic? If pathogenic, which disease(s) does it relate to? | benign | GCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTTC | GCTGCATCTGCGGGACTGAACGCTGTCGTCTTAGGCGAGCGGAGGCCTGGGTGTTTTGTGTGTTTTTGTTTTTTTGTTTTTTTTGTTTTATTTTGAGACAGAGTCTTGCTCTTGTCGCCCAGGTTGGAAGTCAGTGGCACAATCCCGGGTCACTGCAACCTCTGCCTCCCAGGTTCAAGCAATTCTCCTGCCCCAGCCACCTGAGTAGCTGGGATTACAGGCATGCGCCACTACACCCGGCTGATTTTGTATTTTTAGTAGAGACGGGGTTTCACCATGTTGACCAGGCTAGTCTTGAACTGCTGACCTCAGGTGATCCGCATGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCACCTCGCCTGGCCTCACCCTGGGTTCTAATAGCCCTTTCTCCCCTGCCTGCAGGGAGGTCCTCCCAGCCCCATCGGGCCCTCACCCTGCTCAGACACCAGTGGCTTCTGCCACTCACACTCCTCAGCTAGGTGCCCTGGCTAGGCTAGCATCTTGGGGCCCTGCCTCTCTGTGCTTTTCTGCCTCCAGGCTCTGTCCTCCACTAGGAATGGCCCTCCCTTCTTCTCTTCCTGTCCACAGCGTGCCTGTCCTGCCTAGCCCAAATGCCCCCTCTACAGTGTCTTTCCTGGCTCCCACACTACATATAAGCTCTGAGCTGTGGTGTTCTCTACGGGCACTATGTTTGGGTGCACGTCAATATCACACCTTCCAGGTCAGACACCTCTCTGTGTCCTGGGGGGTGCCTGGCATATGGTAGAGGCTCAGTAACCCAAAACAGACTGGCAGAGGCATGGAATGCAGGCTCCCAAGTGAGATGTGCTAGAGTTGGAAATCCAACTCTACCACTTAGGAGCTGTGTGACTTTGAGCAAATTAGTTAACCTCTCTGGACTTCGGCTCTCTCATCTGTCAAAGAACAGCACCTACTTCATAGTAAGGTAATCCATGAAAAGCACAGGGCTTAGAACAGAACAGTATCAGCTACTACTAATAATAGCAATAGTAGCAGTAATAATAATGGGTACTTTTGAAAGCAATAGTGCCTGTGTGACCCTGGGCAAGCCATCTCACTTCTCTGGTGAAAGTCAGTCACCTGGAGAGGATATTCTCCCAGCTTCCTCCACCCTCCTTCCCCCATTCTCTTGTACAGAGCAAGAAGGGCTGCCTGGAGGAGGCAGGCTGGCCCACAGGCAGGGCTACCTTGGAGCGGTACCACTCTTCGGCTTCATGCATGTTGCTGGACGCCATTGCCTCATACTGCGTGCGGATCTCTTTCAGGGCTGCGGTGAGGTCTGGCTTGGCCACGTCAAGCTCCACATGGACCTGCTGTCGGGCCAGCTGCTCCTGGAGTTCCCGAACCTCCTGACCAGGGTGAGAGAAGCGGTACCAGGGCTCAGGGTACAGGCCACAGCTGGGGTTCCCCACGCCATTGTGTCCTCTTCTGCCTGCCCCTCGGCCAGGAGTTCGAATGCTCTCTTGTCTCTTTCCGTCTCCCTTAGTGTCTTTCTGTTTGTCTTTCATTTCCTGTCTCTACCTGCCAATCTCTGTTTCTCTCCTCTCTCTGAGTGTCTCTCTCAGTCTCAGCTTCTCTGTCTCTGTCTCTCCCTCTCTCAGTTGCAATCTCTGTGTTGAGCTTTCCTCCCTCTGCCCTGGCCTCACCTCCTCGTGGATCTTCCTCAAGAACCGGATCTCCTCCTCCAGCGACTCAATCTTCCTCTCCAGATCCAGACGGGCCAGGGTGGCTTCATCTGCTTCCTGGAGTGGCAGGAGGGGTGAGGAGTAGAGGGCCACTGGGGCCCCAGGCTCCTTCTCCCCATTCCTCAGCCTTGCCTTACCCCTCCTTCTGGGGCAGTGGGGAGCAGCACATTGCTCTGGCGGGCTGAGCTTGGGGGCTGTGTTTGGGTGGGTGGCCATCAATCCTTTCCTCCCTCCCCTGCCCCTCCCCTCCACCTCCCTGACCTGTCTATAGGCAGCCAGGTTGTTCTCGGCTTCCAGCCTCAGGTTGGTTTCATCCTGGAGCCTGGAGTGGGGGGGACACATTCCTGGGTCCAGGCTCTTCTGAGGACACTTGAATACCTGCCTCAGTCTCCCTTGAGGCAGCTGTCACAGAGACCACCCCCACCCAGGACCAGTAGAGCAGCAGGAGGATTAAGGGTTGGGGGGCCTTAGACAGAGGACTTGTCTGGAGGATGAGCAGATGTGGGCTTTTGCCTTAACTCATTACTAAGGTGCCTTATCAGGGTTGGTGCACCTGCTTCTGCTCACACAGGCGCATCCACAAGCATACACTCACTGTTGCACACACACACACACACACGCACATGTCCTCCTGCACTTGAAGGCACACATGCATGTCCTGTCAGCTCAGTGAAGCGCCATGCCCCTGGGGATTCCTCTGATCCCAGGTAACCACCTTTTGAAATGAATTTTATTATGACCACCGCTTCACAGCTGTGCAAGTCAAAGTAACTTGATGGGGGTCACAAGCTGGTGGCAGGCAGTCACCTGTGCTTTGCGCCCAGACCTGCCTGCTCTTTCCCTCACTTTCTTCACCCCAGAATCCAATCTCCCTCATGGACATCAACCTTCTCCGCTTCCAACTCCTCCTTTATATGGACACAGGCTCAGAATAGGTGAGCTCGCTGCCCACAGTCACAAAGCCCAGCCATGAATGAAACACAGGGGCCCCGCTGCTCCTGCACTGCTTTCCCCAGTAGGGAGGTGCTGAGGGGACCCTGGACTCCTGGCAGAAGGCATGCGGGCATCAGATCCCCGGGGCCCTGGGCCTGTTTCTGGTCCCTCCCATCATGTTGGGGGGCAAGGATAGTGCCCCATCAAGAGGTAGGGAGGCCCAGGGAGCAGGGAGGTTCGGCCCCTCCCTGAGACTTCTCGGGCACTCCTTCTTGGGGATTCAGCCCCTTCTGCTCACAAGGCCCCCCTTCCCCATCCCCTCCTCACTTCTGCCTCACAGTGGCCAGGTCCTGTGCCAGATTGTCCCTCTCAACCTCCAGCCGGGCGCTGTTGGCGGTGAGTTGATCGAGCCGCAGCCGCAGCTCTCGCAGCTCAGCCTGGTAGACGTCTGCCAGCTTGGTGGGCTCCTTGGCCCGCAGCTGGTTCAGCTCAGCAGCCAGCGCCTTGTTTTGCTGTTCCAGGAAGCGAACCTTCTCGATGTAGCTGGCAAAGCGGTCATTGAGCTCCATCATCTCTGCCCGCTCACTGGCCCGGGTCTCCTTGAAGCCAGCATTGAGTGCCCCAGCCAGGGAGAAATCCACCCGGGTCGGGAGTGGAGGGGGCATTCGAGCCAGGGAGAGGCGGGTGCCAGGACCCAGACGGCGGCCAGGAGCCAGGCCCCCCACCATCATCTCCCCTGAGGAGACGTAGGAGCGGCGAGCAGCGGAGGTGATGCGTCTCCTCTCCATCCTGCTCTGGCTCTGCTCGCTCCTGGGATGCGAGGGCTTTATGAAGGAGTGGGCTAGACTGGCGATGCCCGGGTGCCCCTGGCAACACCCCCTGGCATAGCCTGAGGGGGTGGGGTTGGGCCGCAGCCCAGCTATGGGGAGAGCTCCCCTCACCCCACTGAGGTCACTGTGCCCAGAGGCAGAGCTTCCTGGGCACGCCAACTCCTGCATGAGGCAGGTGGTACCTGGAGCCAGACCATGGGTCTGGGGCCCTGACCGCTGAAGCAAGAGGACCCTCTCTCTAGGAAGGTGGGTCAAGAAAGGGTTGGTTGGACCATGATGAATACTTACAATTATTATGCATCAATTAAAAAGGAAGGAAAGGGCTGAGTGGGGTGGCTCATGCTTGTAATCCCAGCACTTTGGGAGGCTGAGGCTGGAGGATTGCTTGAGCCCAGTAGGTTGAGGCTGCAGTGAGCTGTGTTTGCGCCACTCCAGCCTGGGCAACAGAGAGAGACCTTGTCTCACAAAAAAAAAAAAAAAAAAGGGAAGGAAGGGCTGTACCAGATGACCTCTGACCTGCTTTCCAACTTTTTGATTTCATAACCCAGGCATTATCTCACTCAGCTGTAAGTGCCTGCAAGGTGCTGGGAATTTGGCGAAGAATGAACCTGTT | benign | 277,263 |
Classify the chromosome 17 variant at position 46024409 affecting gene MAPT (microtubule associated protein tau) as benign or pathogenic. If pathogenic, which disease(s) is associated? | benign | AAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGGACGCATGTATCTTGAAATGCTTGTAAAGAGGTTTCTAACCCACCCTCACGAGGTGTCTCTCACCCCCACACTGGGACTCGTGTGGCCTGTGTGGTGCCACCCTGCTGGGGCCTCCCAAGTTTTGAAAGGCTTTCCTCAGCACCTGGGACCCAACAGAGACCAGCTTCTAGCAGCTAAGGAGGCCGTTCAGCTGTGACGAAGGCCTGAAGCACAGGATTAGGACTGAAGCGATGATGTCCCCTTCCCTACTTCCCCTTGGGGCTCCCTGTGTCAGGGCACAGACTAGGTCTTGTGGCTGGTCTGGCTTGCGGCGCGAGGATGGTTCTCTCTGGTCATAGCCCGAAGTCT | AAAAAAAAAAAAAGATAAAATACAGTATACAGTAATAGAGAACAATCCTTTTTTCAAAGTAGTGACCCCAAATGAACAAAATATGCATCTAGCTTAAATGCGAACCTGGTTTTCTCTACGCCCATTCAAGCCCCTGCAATAGGGGCCCTTCACCCCGCATCCATGGACTCCTAAAATTATATGGAAAATGGCTGTGTGTGAGTGTGGATGGACATGTGCACACATATTTTTGGCTTTACCAGATGCTCAAAGAGCCTAGGACCCAAAAAGGGCTGAGAATGACCGTGTCGGCCACTTCAGGGTCATCAGGAATTGCTGTGCACTGCTCACTTCTCCAGTGAACACTTTCTGCTTCTGTGTTTCCTGGTATCCTTTGGGACTCCTGGCTAGGTCATGTGTTTCTCTACTTTCAAAAGGGCTTCAGCCAGGCACGATGGCATGAGCCTGTAGTCCCAGTTGCTCTGGAGGTTAAGGTGGGAAGATTGCTTGAGCCCAGGAATTTGAGGCCAGCCTGGGCAAGTAGATAGGTAGATGATTGATAGATAGATAGATAGATAAATAGATGGATAGATAAGTCGCTAGACAGTCATCCATCCACCCATCCACACATAAAAAGGCCTTTGTCATGTCATGTTTTGTGGCCCACCTGCCAGTGTTGCCCACAGTTGCTGCCCCTCCAAACTCATCAGTCACTGGCAAACAGGAGGAATGTGTGGCTCATGTCTGGGCATCAGTGGCTGTGGGAGACATCCTTGATCTTCTCCAGCTTCTCCTTCCACATTTTCCTTTGCAATCTGGCAATATCTATTAAAATAAAATGTGCATGCCTTTTGACCTAAGAGCTTCACTTCTAGGACCCACTTACACGTGTGTGACATGATGTTCATACGGGTTTATTTATCTGAGGTTGTTCATACACACCATTGCCTGTAATCACTAAAGGCGGGAGCAGCCTACACATCCATCCACAGAGGAGTAGATGCCTTTTGGTACATCCGTGGCGACGGAATACTAAGCAGCCTGTGTATCTATACACTCACACGTGTTTGTTTATGTGTGGAATATCTCTGGAGGGTACACAAGAAACTTAAAATGATCACTGTCTCTGGGGAGGGTACCTGGGTGCCTGGGAGGCAGGTCAGGGAAGGAGTGGGCACAGGTATTACCAATTGGAAGACAATAAAAACAACAGCTCCTGGCCAGGCGCAGTGGCTCACGCCTGTAATGGCAGCACTCTGAGAGGCTGAGGCGGGCAGATTGCTTGCGTCCAGGAGTTCAAGACCAGCCTGGGCAACATAGCAAAACCCCGTTTCTATTAAAAATACAAAAAATTAGCCAGGTGTGGTGGCATGCACCTGTAATCCCAGCTACTCGGGAGGCTGAGGTGGGAGAATCACCTGAGCCTGGGAGGTCAAGGCTGCAGTGAGGTGAGATTGTGCCACCGCACTCTAGCCTGGGCGATAGAGCAAGACCCTGTCTCAAAAACAAACAAAAAACAGTCCCTGGCACTCTGGGCCAGGCCTGGCAGGGCAGTTGGCAGGGCTGGTCTTTCTCTGGCACTTCATCTCACCCTCCCTCCCTTCCTCTTCTTGCAGATTGAAACCCACAAGCTGACCTTCCGCGAGAACGCCAAAGCCAAGACAGACCACGGGGCGGAGATCGTGTACAAGTCGCCAGTGGTGTCTGGGGACACGTCTCCACGGCATCTCAGCAATGTCTCCTCCACCGGCAGCATCGACATGGTAGACTCGCCCCAGCTCGCCACGCTAGCTGACGAGGTGTCTGCCTCCCTGGCCAAGCAGGGTTTGTGATCAGGCCCCTGGGGCGGTCAATAATTGTGGAGAGGAGAGAATGAGAGAGTGTGGAAAAAAAAAGAATAATGACCCGGCCCCCGCCCTCTGCCCCCAGCTGCTCCTCGCAGTTCGGTTAATTGGTTAATCACTTAACCTGCTTTTGTCACTCGGCTTTGGCTCGGGACTTCAAAATCAGTGATGGGAGTAAGAGCAAATTTCATCTTTCCAAATTGATGGGTGGGCTAGTAATAAAATATTTTAAAAAAAAACATTCAAAAACATGGCCACATCCAACATTTCCTCAGGCAATTCCTTTTGATTCTTTTTTCTTCCCCCTCCATGTAGAAGAGGGAGAAGGAGAGGCTCTGAAAGCTGCTTCTGGGGGATTTCAAGGGACTGGGGGTGCCAACCACCTCTGGCCCTGTTGTGGGGGTGTCACAGAGGCAGTGGCAGCAACAAAGGATTTGAAACTTGGTGTGTTCGTGGAGCCACAGGCAGACGATGTCAACCTTGTGTGAGTGTGACGGGGGTTGGGGTGGGGCGGGAGGCCACGGGGGAGGCCGAGGCAGGGGCTGGGCAGAGGGGAGAGGAAGCACAAGAAGTGGGAGTGGGAGAGGAAGCCACGTGCTGGAGAGTAGACATCCCCCTCCTTGCCGCTGGGAGAGCCAAGGCCTATGCCACCTGCAGCGTCTGAGCGGCCGCCTGTCCTTGGTGGCCGGGGGTGGGGGCCTGCTGTGGGTCAGTGTGCCACCCTCTGCAGGGCAGCCTGTGGGAGAAGGGACAGCGGGTAAAAAGAGAAGGCAAGCTGGCAGGAGGGTGGCACTTCGTGGATGACCTCCTTAGAAAAGACTGACCTTGATGTCTTGAGAGCGCTGGCCTCTTCCTCCCTCCCTGCAGGGTAGGGGGCCTGAGTTGAGGGGCTTCCCTCTGCTCCACAGAAACCCTGTTTTATTGAGTTCTGAAGGTTGGAACTGCTGCCATGATTTTGGCCACTTTGCAGACCTGGGACTTTAGGGCTAACCAGTTCTCTTTGTAAGGACTTGTGCCTCTTGGGAGACGTCCACCCGTTTCCAAGCCTGGGCCACTGGCATCTCTGGAGTGTGTGGGGGTCTGGGAGGCAGGTCCCGAGCCCCCTGTCCTTCCCACGGCCACTGCAGTCACCCCGTCTGCGCCGCTGTGCTGTTGTCTGCCGTGAGAGCCCAATCACTGCCTATACCCCTCATCACACGTCACAATGTCCCGAATTCCCAGCCTCACCACCCCTTCTCAGTAATGACCCTGGTTGGTTGCAGGAGGTACCTACTCCATACTGAGGGTGAAATTAAGGGAAGGCAAAGTCCAGGCACAAGAGTGGGACCCCAGCCTCTCACTCTCAGTTCCACTCATCCAACTGGGACCCTCACCACGAATCTCATGATCTGATTCGGTTCCCTGTCTCCTCCTCCCGTCACAGATGTGAGCCAGGGCACTGCTCAGCTGTGACCCTAGGTGTTTCTGCCTTGTTGACATGGAGAGAGCCCTTTCCCCTGAGAAGGCCTGGCCCCTTCCTGTGCTGAGCCCACAGCAGCAGGCTGGGTGTCTTGGTTGTCAGTGGTGGCACCAGGATGGAAGGGCAAGGCACCCAGGGCAGGCCCACAGTCCCGCTGTCCCCCACTTGCACCCTAGCTTGTAGCTGCCAACCTCCCAGACAGCCCAGCCCGCTGCTCAGCTCCACATGCATAGTATCAGCCCTCCACACCCGACAAAGGGGAACACACCCCCTTGGAAATGGTTCTTTTCCCCCAGTCCCAGCTGGAAGCCATGCTGTCTGTTCTGCTGGAGCAGCTGAACATATACATAGATGTTGCCCTGCCCTCCCCATCTGCACCCTGTTGAGTTGTAGTTGGATTTGTCTGTTTATGCTTGGATTCACCAGAGTGACTATGATAGTGAAAAGAAAAAAAAAAAAAAAAAAGGACGCATGTATCTTGAAATGCTTGTAAAGAGGTTTCTAACCCACCCTCACGAGGTGTCTCTCACCCCCACACTGGGACTCGTGTGGCCTGTGTGGTGCCACCCTGCTGGGGCCTCCCAAGTTTTGAAAGGCTTTCCTCAGCACCTGGGACCCAACAGAGACCAGCTTCTAGCAGCTAAGGAGGCCGTTCAGCTGTGACGAAGGCCTGAAGCACAGGATTAGGACTGAAGCGATGATGTCCCCTTCCCTACTTCCCCTTGGGGCTCCCTGTGTCAGGGCACAGACTAGGTCTTGTGGCTGGTCTGGCTTGCGGCGCGAGGATGGTTCTCTCTGGTCATAGCCCGAAGTC | benign | 277,434 |
Determine whether the variant at chromosome 17, position 46031438, in gene KANSL1 is benign or pathogenic. If pathogenic, identify the relevant disease(s). | benign | AGTCTGGACAATCGAGCAAGATCCCATCTCAAACAATAAAAAAAAAAAGCGTGTAACCTCCTCAGAAGAAAGATGTTATAATCTCAGGCAGCAGGCAAGAACCAATCCAGGCTCTAAGCAAATTATGTATCTCACTGACCCCACCAAACCTCAGAAAAATTTAACAGTGAGAAGCAAAATCTCCTTTAAAGAGCAACTTAGAACAGATAGAAAATATCATACAGCTGACTTCACTAGAGAGAAAGTGCATCAACTGCTTTCACTCAACAAAAAGAAAAAAGAGATGATCAATGCAGATCCCCTCTCCTCCTGGCAGCCCTTACCCTCAGTGAAAAGCCACCACCATTCTCTCTCTGGTGGCCATCAGATCAACCTGCGGCGTTCCCACAAGACAGAATGGAGATTTTCCAAGGTATAGAGCAAGTCAGAGTACCCCAAAGAACGGCGGCAGAGAGCCAGCTCCGAAACTGCCAACACTACCATGCATACACAGTTCAGTAAGTCAAGAAAGGCCTGGTACACAGCATTCTGTAACTTTTTTTTTTATTTTTTTCAATTTTTCCTTCTTTTTTTTTTTTAAGCACTAGTCTGTGCTTTGCGAACAGAATCAAGACATTAACAAAGATCAGCTTCTCTGAAGAAAAGCATTTCTATAGAACAAAGACAGCTACATGTTTCGCTGCCATTACACAGCTCCAAAGCAGGAAAAGAAAATATTTACAAAATACAAGGTTTTTTTTTTCCATTTTTTGTTTTTGTTTTTTTTTTCAATGCTAAAAGGGTTATTCAGAATTTTCAACCTTATAAATAGAAGAAGCACTTTATGCATAGGGATATGGTGCATTATTGTATTTTTTTTTAAAGAAACAATGACAAACCCTTTAACTTGCAAACAGAAAAAAAAATCACTAATGTTGAAAATTGTGAAAAAACCCCAACCATTAAGCAGTTGTCTACTATTTTTATACGATTACAAAATGGCCAAAAAAAAAGAGTCTTCTCCCCCCTCCCCCTTTTTGGTGATGTGATCATACAGGAGACAGGCACAAGGTTAACAGAGAAGGGTGAAGGGGGAACAATGGGAACCACAGCTAGGACCAGACAATGTTCCACAGGCAAGGGGAGCGTGAAAGACCAAGAGTGGAACTAACACCGACAGGGATCTGGATGTGAAGGAAACATGGCAAAGTGAATCAGAGGGAAAAAAAAAAAAAATCACACAGGGAGATGGCTGCTCACTTCCCACAACCCCCAGTTTGCAGGGGAGTGGGAATAGAGGTTAAGTAGTCCTAACCCTACCTTCAAAGATCAGGATAGGTGGTAAAAATATTCCAAGTGGAAGGACGGGTTGTGGGTGTGTACATGGCATGGGAGAGCAGACAGGGAAGGGTACCAAGGGGCATGAGGAGGGGAACCTGAGCAGCCACAGCCAGGTTACTGCAGTGAAAGAGTCAAAACAGAGAAGACCAAATGCAGATGAAACAAAAAATCAGTCTCTTAAGTTCTGGGTGAGAAAGGAAAGGTGTTCTGCCAGCTGAGCACTCGGGGAGAGCAGCTGGCAGTTATGGCAGAGAGGCTCTGGTGGGGATGTTCCAGCACGAAAAACCAAGGGGACCCAGCCAGGAGGGCCACAGCAGAGCCAAGCCACAGATGGGAGGGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCA | AGTCTGGACAATCGAGCAAGATCCCATCTCAAACAATAAAAAAAAAAAGCGTGTAACCTCCTCAGAAGAAAGATGTTATAATCTCAGGCAGCAGGCAAGAACCAATCCAGGCTCTAAGCAAATTATGTATCTCACTGACCCCACCAAACCTCAGAAAAATTTAACAGTGAGAAGCAAAATCTCCTTTAAAGAGCAACTTAGAACAGATAGAAAATATCATACAGCTGACTTCACTAGAGAGAAAGTGCATCAACTGCTTTCACTCAACAAAAAGAAAAAAGAGATGATCAATGCAGATCCCCTCTCCTCCTGGCAGCCCTTACCCTCAGTGAAAAGCCACCACCATTCTCTCTCTGGTGGCCATCAGATCAACCTGCGGCGTTCCCACAAGACAGAATGGAGATTTTCCAAGGTATAGAGCAAGTCAGAGTACCCCAAAGAACGGCGGCAGAGAGCCAGCTCCGAAACTGCCAACACTACCATGCATACACAGTTCAGTAAGTCAAGAAAGGCCTGGTACACAGCATTCTGTAACTTTTTTTTTTATTTTTTTCAATTTTTCCTTCTTTTTTTTTTTTAAGCACTAGTCTGTGCTTTGCGAACAGAATCAAGACATTAACAAAGATCAGCTTCTCTGAAGAAAAGCATTTCTATAGAACAAAGACAGCTACATGTTTCGCTGCCATTACACAGCTCCAAAGCAGGAAAAGAAAATATTTACAAAATACAAGGTTTTTTTTTTCCATTTTTTGTTTTTGTTTTTTTTTTCAATGCTAAAAGGGTTATTCAGAATTTTCAACCTTATAAATAGAAGAAGCACTTTATGCATAGGGATATGGTGCATTATTGTATTTTTTTTTAAAGAAACAATGACAAACCCTTTAACTTGCAAACAGAAAAAAAAATCACTAATGTTGAAAATTGTGAAAAAACCCCAACCATTAAGCAGTTGTCTACTATTTTTATACGATTACAAAATGGCCAAAAAAAAAGAGTCTTCTCCCCCCTCCCCCTTTTTGGTGATGTGATCATACAGGAGACAGGCACAAGGTTAACAGAGAAGGGTGAAGGGGGAACAATGGGAACCACAGCTAGGACCAGACAATGTTCCACAGGCAAGGGGAGCGTGAAAGACCAAGAGTGGAACTAACACCGACAGGGATCTGGATGTGAAGGAAACATGGCAAAGTGAATCAGAGGGAAAAAAAAAAAAAATCACACAGGGAGATGGCTGCTCACTTCCCACAACCCCCAGTTTGCAGGGGAGTGGGAATAGAGGTTAAGTAGTCCTAACCCTACCTTCAAAGATCAGGATAGGTGGTAAAAATATTCCAAGTGGAAGGACGGGTTGTGGGTGTGTACATGGCATGGGAGAGCAGACAGGGAAGGGTACCAAGGGGCATGAGGAGGGGAACCTGAGCAGCCACAGCCAGGTTACTGCAGTGAAAGAGTCAAAACAGAGAAGACCAAATGCAGATGAAACAAAAAATCAGTCTCTTAAGTTCTGGGTGAGAAAGGAAAGGTGTTCTGCCAGCTGAGCACTCGGGGAGAGCAGCTGGCAGTTATGGCAGAGAGGCTCTGGTGGGGATGTTCCAGCACGAAAAACCAAGGGGACCCAGCCAGGAGGGCCACAGCAGAGCCAAGCCACAGATGGGAGGGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCANNNN | benign | 277,456 |
Variant in gene KANSL1 (KAT8 regulatory NSL complex subunit 1), located at chromosome 17 position 46032197: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Koolen-de_Vries_syndrome'] | TTTTTTTTTCAATGCTAAAAGGGTTATTCAGAATTTTCAACCTTATAAATAGAAGAAGCACTTTATGCATAGGGATATGGTGCATTATTGTATTTTTTTTTAAAGAAACAATGACAAACCCTTTAACTTGCAAACAGAAAAAAAAATCACTAATGTTGAAAATTGTGAAAAAACCCCAACCATTAAGCAGTTGTCTACTATTTTTATACGATTACAAAATGGCCAAAAAAAAAGAGTCTTCTCCCCCCTCCCCCTTTTTGGTGATGTGATCATACAGGAGACAGGCACAAGGTTAACAGAGAAGGGTGAAGGGGGAACAATGGGAACCACAGCTAGGACCAGACAATGTTCCACAGGCAAGGGGAGCGTGAAAGACCAAGAGTGGAACTAACACCGACAGGGATCTGGATGTGAAGGAAACATGGCAAAGTGAATCAGAGGGAAAAAAAAAAAAAATCACACAGGGAGATGGCTGCTCACTTCCCACAACCCCCAGTTTGCAGGGGAGTGGGAATAGAGGTTAAGTAGTCCTAACCCTACCTTCAAAGATCAGGATAGGTGGTAAAAATATTCCAAGTGGAAGGACGGGTTGTGGGTGTGTACATGGCATGGGAGAGCAGACAGGGAAGGGTACCAAGGGGCATGAGGAGGGGAACCTGAGCAGCCACAGCCAGGTTACTGCAGTGAAAGAGTCAAAACAGAGAAGACCAAATGCAGATGAAACAAAAAATCAGTCTCTTAAGTTCTGGGTGAGAAAGGAAAGGTGTTCTGCCAGCTGAGCACTCGGGGAGAGCAGCTGGCAGTTATGGCAGAGAGGCTCTGGTGGGGATGTTCCAGCACGAAAAACCAAGGGGACCCAGCCAGGAGGGCCACAGCAGAGCCAAGCCACAGATGGGAGGGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCATGAGATGGCAAGCAGGCTAAAACTGGGGGCAGGGTCAAAGTGTCCATGCAAGGATGAGAATCCTGCACCTGTGGGTGACACTGCTCTCTGCCGGGTAGGCTCTGCCCTATCACAGCTCAGTCTCCCTACCCTGTCAAGGCCTGTGAAATTGGCCACCTACTCAAATGCCCAAGAAGGCCAGAAATGAGAGAAGCGGCCTAGGGTAAGGCTGAGGCTGAGAGACTGTGACAAACACAAGAAAAGAAACCTGTTTAAAGAGGACCACCACTGTTCAGGACCAGCTGATTGCTCCCATATGGAAATGCATACCCAGGGTTGCCTAATCTTCTGTTTGGCAACAAAAGCTGGAAACAAAGATTTTTATGTGAAATCCTGCTTTGATGTTGACAACAAATTCAGTATTTTAAAACATACTGTATGTGTTGACAAAACCGGTCTCTAGACCAGTAAGTGAATGGCCTACCAGGCTGTGACTGCTGGTTCGTTTGGTGTATTCCTATAATGGAATGAGAGAGAACTATATACAGAAATAATTTCGTTCTTATCAGATAAGAATTTCTCTTAATGAGAAGACAGAACCAAAGACTAGGGCCCAACTCTTGGTCAGAAGAGAAGAGGGAAAAAGGGCAATAGCAGGAAGAATGGGGAGAGGAGCCAACTATTCTGAGCTTCTACCTGGGCGTAAGGATTTCCTTGTATTGCAGTTTCTCTACGCGAGTTGTTGCAGCAACAGACATTGGGATGACAATGTTGTTAATA | TTTTTTTTTCAATGCTAAAAGGGTTATTCAGAATTTTCAACCTTATAAATAGAAGAAGCACTTTATGCATAGGGATATGGTGCATTATTGTATTTTTTTTTAAAGAAACAATGACAAACCCTTTAACTTGCAAACAGAAAAAAAAATCACTAATGTTGAAAATTGTGAAAAAACCCCAACCATTAAGCAGTTGTCTACTATTTTTATACGATTACAAAATGGCCAAAAAAAAAGAGTCTTCTCCCCCCTCCCCCTTTTTGGTGATGTGATCATACAGGAGACAGGCACAAGGTTAACAGAGAAGGGTGAAGGGGGAACAATGGGAACCACAGCTAGGACCAGACAATGTTCCACAGGCAAGGGGAGCGTGAAAGACCAAGAGTGGAACTAACACCGACAGGGATCTGGATGTGAAGGAAACATGGCAAAGTGAATCAGAGGGAAAAAAAAAAAAAATCACACAGGGAGATGGCTGCTCACTTCCCACAACCCCCAGTTTGCAGGGGAGTGGGAATAGAGGTTAAGTAGTCCTAACCCTACCTTCAAAGATCAGGATAGGTGGTAAAAATATTCCAAGTGGAAGGACGGGTTGTGGGTGTGTACATGGCATGGGAGAGCAGACAGGGAAGGGTACCAAGGGGCATGAGGAGGGGAACCTGAGCAGCCACAGCCAGGTTACTGCAGTGAAAGAGTCAAAACAGAGAAGACCAAATGCAGATGAAACAAAAAATCAGTCTCTTAAGTTCTGGGTGAGAAAGGAAAGGTGTTCTGCCAGCTGAGCACTCGGGGAGAGCAGCTGGCAGTTATGGCAGAGAGGCTCTGGTGGGGATGTTCCAGCACGAAAAACCAAGGGGACCCAGCCAGGAGGGCCACAGCAGAGCCAAGCCACAGATGGGAGGGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCATGAGATGGCAAGCAGGCTAAAACTGGGGGCAGGGTCAAAGTGTCCATGCAAGGATGAGAATCCTGCACCTGTGGGTGACACTGCTCTCTGCCGGGTAGGCTCTGCCCTATCACAGCTCAGTCTCCCTACCCTGTCAAGGCCTGTGAAATTGGCCACCTACTCAAATGCCCAAGAAGGCCAGAAATGAGAGAAGCGGCCTAGGGTAAGGCTGAGGCTGAGAGACTGTGACAAACACAAGAAAAGAAACCTGTTTAAAGAGGACCACCACTGTTCAGGACCAGCTGATTGCTCCCATATGGAAATGCATACCCAGGGTTGCCTAATCTTCTGTTTGGCAACAAAAGCTGGAAACAAAGATTTTTATGTGAAATCCTGCTTTGATGTTGACAACAAATTCAGTATTTTAAAACATACTGTATGTGTTGACAAAACCGGTCTCTAGACCAGTAAGTGAATGGCCTACCAGGCTGTGACTGCTGGTTCGTTTGGTGTATTCCTATAATGGAATGAGAGAGAACTATATACAGAAATAATTTCGTTCTTATCAGATAAGAATTTCTCTTAATGAGAAGACAGAACCAAAGACTAGGGCCCAACTCTTGGTCAGAAGAGAAGAGGGAAAAAGGGCAATAGCAGGAAGAATGGGGAGAGGAGCCAACTATTCTGAGCTTCTACCTGGGCGTAAGGATTTCCTTGTATTGCAGTTTCTCTACGCGAGTTGTTGCAGCAACAGACATTGGGATGACAATGTTGTTAATANN | pathogenic | 277,479 |
Variant on chromosome 17, at position 46033095, affecting KANSL1 (KAT8 regulatory NSL complex subunit 1): is it benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['KANSL1-related_disorder', 'Koolen-de_Vries_syndrome'] | GGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCATGAGATGGCAAGCAGGCTAAAACTGGGGGCAGGGTCAAAGTGTCCATGCAAGGATGAGAATCCTGCACCTGTGGGTGACACTGCTCTCTGCCGGGTAGGCTCTGCCCTATCACAGCTCAGTCTCCCTACCCTGTCAAGGCCTGTGAAATTGGCCACCTACTCAAATGCCCAAGAAGGCCAGAAATGAGAGAAGCGGCCTAGGGTAAGGCTGAGGCTGAGAGACTGTGACAAACACAAGAAAAGAAACCTGTTTAAAGAGGACCACCACTGTTCAGGACCAGCTGATTGCTCCCATATGGAAATGCATACCCAGGGTTGCCTAATCTTCTGTTTGGCAACAAAAGCTGGAAACAAAGATTTTTATGTGAAATCCTGCTTTGATGTTGACAACAAATTCAGTATTTTAAAACATACTGTATGTGTTGACAAAACCGGTCTCTAGACCAGTAAGTGAATGGCCTACCAGGCTGTGACTGCTGGTTCGTTTGGTGTATTCCTATAATGGAATGAGAGAGAACTATATACAGAAATAATTTCGTTCTTATCAGATAAGAATTTCTCTTAATGAGAAGACAGAACCAAAGACTAGGGCCCAACTCTTGGTCAGAAGAGAAGAGGGAAAAAGGGCAATAGCAGGAAGAATGGGGAGAGGAGCCAACTATTCTGAGCTTCTACCTGGGCGTAAGGATTTCCTTGTATTGCAGTTTCTCTACGCGAGTTGTTGCAGCAACAGACATTGGGATGACAATGTTGTTAATATCAAATGAGCTCTCTCCCCTTCTCCTCCTTACTGGCTGCTGCTGTAAGATAAAAATTAAGTTTAAAAGGAAGGTACAATTTTACAGACATCAAATCATTCATCTAAGAGTTAAAGCAGGATCACCAATAACCAAGCATCTGGGTCCTTGGGTTGAAGCTGAGTAATGACCATAGCAGCTGCTCCCACCTAGGAGTCAGTCTCCAACAGCAAAAAACCTCACGGAGAAATACCAGGTGGTCATGAGGAGTTAGTCCCATTCATAAGTCCCACTGGTCACCCTCTTCCTTCAAGGGCTCATGCGTAAATTTCATAGGGGTGGGTACCTGGGATCTTAACTGTTGGGGTTCCTACTCTATATACACCTCTATTAACCTCCTCTCCTTTTACAATCTTTATTTCCTTCCTTTATCCCCGTTTATGACTTAAGACTCATAGTGGCCCCTCCCCTAAAAGCAATGCTTGAAAGCTTATGCTGAAAGAGGCCCAAAGGATAGGCCCATCTCAATACATCATCTAACCTTGGTTGTCATGAATGCACCTCCTTCTCAAAGATCTGAACTCTTCAGCTAAATCTGCACCCACCATCTGCCCAGTCTTTATGTGATTTCCCCTCTTTTGATGATTCTTGGGGAAAGAGCTGAGAGCTTTCTAGCTGTATCAAAGGAGATGAATGGAGGGAAACTAAAGAGGAGAACCTGACTATACCTCACATTCCTGGTGAAAGGAAATTTGCTTCTATAGGAAATAGTTGAGAAGACCAAACTCTTGGAAAAATAAGACTTCCAAGGATCGAATATCAGAGGCAGAGGTAAGCATCTACAGTAGCTGGGAGACTAGGGAACTAAATGGCTTAGTCTCTTGGATGGAGGAAGAAGTCTACTAGCTGCTGCTGCCCAG | GGGAGGGGGTAAGAGTCCAGAGCACCCTGCCCCATTCCACCCTAGCTCAAGAAGGCCATGCTAAACTGTAGCCCGCCAGGCTGTTCTGCCCTGCCCACAGGTGTGAGGGAGGGGGTGGTCATCTAAGATCAGTAAGTCCAGTGATTCAACAGTGCAGAGGATGTGCCAGGACCAGGCCAGCAGGGTCTCATCCTGAACTTCTGTTTGCCAACGGGAGGAAGTGCTCAGGTGTGTGACAAGAAAACATGGAAACAAAAACAAAACAAAAATTAAAACAAGAAAAAAAAATACCAAAGTAGGATCTAAATTCCTTAAGTTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCATGAGATGGCAAGCAGGCTAAAACTGGGGGCAGGGTCAAAGTGTCCATGCAAGGATGAGAATCCTGCACCTGTGGGTGACACTGCTCTCTGCCGGGTAGGCTCTGCCCTATCACAGCTCAGTCTCCCTACCCTGTCAAGGCCTGTGAAATTGGCCACCTACTCAAATGCCCAAGAAGGCCAGAAATGAGAGAAGCGGCCTAGGGTAAGGCTGAGGCTGAGAGACTGTGACAAACACAAGAAAAGAAACCTGTTTAAAGAGGACCACCACTGTTCAGGACCAGCTGATTGCTCCCATATGGAAATGCATACCCAGGGTTGCCTAATCTTCTGTTTGGCAACAAAAGCTGGAAACAAAGATTTTTATGTGAAATCCTGCTTTGATGTTGACAACAAATTCAGTATTTTAAAACATACTGTATGTGTTGACAAAACCGGTCTCTAGACCAGTAAGTGAATGGCCTACCAGGCTGTGACTGCTGGTTCGTTTGGTGTATTCCTATAATGGAATGAGAGAGAACTATATACAGAAATAATTTCGTTCTTATCAGATAAGAATTTCTCTTAATGAGAAGACAGAACCAAAGACTAGGGCCCAACTCTTGGTCAGAAGAGAAGAGGGAAAAAGGGCAATAGCAGGAAGAATGGGGAGAGGAGCCAACTATTCTGAGCTTCTACCTGGGCGTAAGGATTTCCTTGTATTGCAGTTTCTCTACGCGAGTTGTTGCAGCAACAGACATTGGGATGACAATGTTGTTAATATCAAATGAGCTCTCTCCCCTTCTCCTCCTTACTGGCTGCTGCTGTAAGATAAAAATTAAGTTTAAAAGGAAGGTACAATTTTACAGACATCAAATCATTCATCTAAGAGTTAAAGCAGGATCACCAATAACCAAGCATCTGGGTCCTTGGGTTGAAGCTGAGTAATGACCATAGCAGCTGCTCCCACCTAGGAGTCAGTCTCCAACAGCAAAAAACCTCACGGAGAAATACCAGGTGGTCATGAGGAGTTAGTCCCATTCATAAGTCCCACTGGTCACCCTCTTCCTTCAAGGGCTCATGCGTAAATTTCATAGGGGTGGGTACCTGGGATCTTAACTGTTGGGGTTCCTACTCTATATACACCTCTATTAACCTCCTCTCCTTTTACAATCTTTATTTCCTTCCTTTATCCCCGTTTATGACTTAAGACTCATAGTGGCCCCTCCCCTAAAAGCAATGCTTGAAAGCTTATGCTGAAAGAGGCCCAAAGGATAGGCCCATCTCAATACATCATCTAACCTTGGTTGTCATGAATGCACCTCCTTCTCAAAGATCTGAACTCTTCAGCTAAATCTGCACCCACCATCTGCCCAGTCTTTATGTGATTTCCCCTCTTTTGATGATTCTTGGGGAAAGAGCTGAGAGCTTTCTAGCTGTATCAAAGGAGATGAATGGAGGGAAACTAAAGAGGAGAACCTGACTATACCTCACATTCCTGGTGAAAGGAAATTTGCTTCTATAGGAAATAGTTGAGAAGACCAAACTCTTGGAAAAATAAGACTTCCAAGGATCGAATATCAGAGGCAGAGGTAAGCATCTACAGTAGCTGGGAGACTAGGGAACTAAATGGCTTAGTCTCTTGGATGGAGGAAGAAGTCTACTAGCTGCTGCTGCCCAGN | pathogenic | 277,488 |
Does the variant on chromosome 17 at location 46033411 affecting gene KANSL1 (KAT8 regulatory NSL complex subunit 1) have a clinical significance of benign or pathogenic? If pathogenic, what disease(s) is associated? | benign | TTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCATGAGATGGCAAGCAGGCTAAAACTGGGGGCAGGGTCAAAGTGTCCATGCAAGGATGAGAATCCTGCACCTGTGGGTGACACTGCTCTCTGCCGGGTAGGCTCTGCCCTATCACAGCTCAGTCTCCCTACCCTGTCAAGGCCTGTGAAATTGGCCACCTACTCAAATGCCCAAGAAGGCCAGAAATGAGAGAAGCGGCCTAGGGTAAGGCTGAGGCTGAGAGACTGTGACAAACACAAGAAAAGAAACCTGTTTAAAGAGGACCACCACTGTTCAGGACCAGCTGATTGCTCCCATATGGAAATGCATACCCAGGGTTGCCTAATCTTCTGTTTGGCAACAAAAGCTGGAAACAAAGATTTTTATGTGAAATCCTGCTTTGATGTTGACAACAAATTCAGTATTTTAAAACATACTGTATGTGTTGACAAAACCGGTCTCTAGACCAGTAAGTGAATGGCCTACCAGGCTGTGACTGCTGGTTCGTTTGGTGTATTCCTATAATGGAATGAGAGAGAACTATATACAGAAATAATTTCGTTCTTATCAGATAAGAATTTCTCTTAATGAGAAGACAGAACCAAAGACTAGGGCCCAACTCTTGGTCAGAAGAGAAGAGGGAAAAAGGGCAATAGCAGGAAGAATGGGGAGAGGAGCCAACTATTCTGAGCTTCTACCTGGGCGTAAGGATTTCCTTGTATTGCAGTTTCTCTACGCGAGTTGTTGCAGCAACAGACATTGGGATGACAATGTTGTTAATATCAAATGAGCTCTCTCCCCTTCTCCTCCTTACTGGCTGCTGCTGTAAGATAAAAATTAAGTTTAAAAGGAAGGTACAATTTTACAGACATCAAATCATTCATCTAAGAGTTAAAGCAGGATCACCAATAACCAAGCATCTGGGTCCTTGGGTTGAAGCTGAGTAATGACCATAGCAGCTGCTCCCACCTAGGAGTCAGTCTCCAACAGCAAAAAACCTCACGGAGAAATACCAGGTGGTCATGAGGAGTTAGTCCCATTCATAAGTCCCACTGGTCACCCTCTTCCTTCAAGGGCTCATGCGTAAATTTCATAGGGGTGGGTACCTGGGATCTTAACTGTTGGGGTTCCTACTCTATATACACCTCTATTAACCTCCTCTCCTTTTACAATCTTTATTTCCTTCCTTTATCCCCGTTTATGACTTAAGACTCATAGTGGCCCCTCCCCTAAAAGCAATGCTTGAAAGCTTATGCTGAAAGAGGCCCAAAGGATAGGCCCATCTCAATACATCATCTAACCTTGGTTGTCATGAATGCACCTCCTTCTCAAAGATCTGAACTCTTCAGCTAAATCTGCACCCACCATCTGCCCAGTCTTTATGTGATTTCCCCTCTTTTGATGATTCTTGGGGAAAGAGCTGAGAGCTTTCTAGCTGTATCAAAGGAGATGAATGGAGGGAAACTAAAGAGGAGAACCTGACTATACCTCACATTCCTGGTGAAAGGAAATTTGCTTCTATAGGAAATAGTTGAGAAGACCAAACTCTTGGAAAAATAAGACTTCCAAGGATCGAATATCAGAGGCAGAGGTAAGCATCTACAGTAGCTGGGAGACTAGGGAACTAAATGGCTTAGTCTCTTGGATGGAGGAAGAAGTCTACTAGCTGCTGCTGCCCAGATAGTTAATACCCTATCCTGAAACAGAGACTAGCAACTGAGCTGTGAGAGGCCAGAAGGAAACAGTGGCATAACAAACACGCTGCCATGGCAACAAAACAGCTGGAAAACACCTAAGAGGCTGCATTTATACCTAAACCACCAAGTGTGGTCAGTCCACAGGGAAGGGGTTGGAGGAGTAAGAAGTCCCCTATAACTAACCCCTCTATCCTCTGTTCCTGGACGGTGAGATACCCTTTATTCATCCTATCATCTTAGGACATTCTCAGAGAATGTTAAAAGTCAGCACTTCCTGGGCCAGAGTTTCAGTCACTGTC | TTCACTAAAAACTGTGAAAATTTCCGGCATATGATGTTTGAATATCAAACGCAGAGATTTCTGAAGCTTTAATGCCAATAGTTAGTGAGTCTGTTTAGATGGCTGTCTCCCGCTCATCTGTGAGTCGGGCGCTGAGCTGTGGCTGCTGCCACCAGATGCCGACTCTTGAGGGGGACAATGGGAGGCGAGGTGGGCGCTGCCTCTGTCTCCCGGCCAGTCTTGCTGCCTGAGGTGCGTCGAGTGCAGCGGGCTGCTCGCTCCTGTGCATCCAGCTGGTCCTCACACTCCGCCTGGGGACTGTGCGCCAGGGGGAAGGTCCGCCGCTCCCAGGGCTGGACAGACTGTAGGCAGACAAGTTGCTCTTTGAGGACCCAGTCCCAGCCAGCCTGCTTCCTGCTCCAAGGCCCTGCCACAAACCTTGTGGCCTGGAGCCTAGGACCAGTCTATCTAGTGTTCCTGCGACAGTCTGGGAACACCCCTCCTAGGGTATACCCAGACAACTGTATTGATCATTTAGCAGTGATCAATACAGTTCCACTGAACGTTGAGGAGATCAATTTAAGTGCAGCCCTTTGTCCCTTCAAAAGGGGGAGGGGATGGCTAGGTCCCTCTTCAGCAGATGCTGCCCCTTCCTGGTTCCATCCCCCAACCATGCCAACCCCACCCAAAGGCTGCGTCCCTTACCTGTTCATCCAGCCCCAGCTCTGGTGTGGAACAACGGGTATCCTCACTGGCTAAGTGTCGCGGAGTGTCCCGAGCCACAGGGGTGAGGGGTGCTGAGTGCAGTTCCGGGCTAATGGGGCTCCTAGGGGACTGACCATGGGAGTATTCTGACAAAGAGTGGCTACTGCTGACATCAGGGGAGGCAGGCTGGGGGGTGGAGGGGTTGGCACTGCCCAGCTGGGGGGTTGTCCGGCCGTCTGATGACCTGTAGGACCTGCACACCAAGGAATGCAAATCTGAGTGCCTGGGAAATGTTTACTTATGGGGGTAGAGGGCATGAAAAAAGCATCCCCACTGGAGGAGTTGAGGCAAACAAACACCAACAGATTTTCCTTAGGATCCAGCAACTCCCATTTCTTCCCACTATTCTCTGGAGGGGTAGGTATACAACATTTACCATCCCAAGAAAAAAGCATGGCTGAACAATGCCAGGTGAGTCCATAGCAAAGTGCCTAGTGAATTCAGGAGGTTAGGGAGATTCGTGTAGACTTTGAAAACTGTAGTCAAAGAAAAAAAAGTAAAAGTAAGAGCTCCCAAAACTTTCTACTTGAGAATCCCGAGGGTTTCTGCCACTGTTAACAATAAATGGAGACAGGGTAGTGATGGACGTTAAGGGGGGGCAGTTTCTTCAAGTGGCATCACAAAGCCACTGTCCAAAGGAAGGTTAACTTGTAGCGAGGCCTTCCAAGCTCCCCGGGTTGAATCACCATGACCCCCCAACTGTCTTCCAAATGCCACAGATCATGGGAATTCAGAATTACATAGTGACTTCTCAGCAAGGATCTAGCACTTGGCTCCTTATATCTCCACTAGTTCCATGTATCTCCACTAGTTCCAACAAACACCAAGGAAATTCTGAGCTATTTGCCACTGCCAGTAGATGAGTATGATGAGCAACCAAGAGGCAGTAGCAATTCCATGGACTCAAGTAGGGCCCAAACTCCCTGTCCACCCTCTCTCCACAGGCCCTGGGGACCCAAGCCTGCCCCATCACCTGCTGCCCCGCCGCTGGGGTGGCACACTCGTGGTCCACAGCCACCGTGCCCTCTCCATCTCCTCACATTTGGCATGCAGGGCGGCGAAGGCTGCGTCGGATAGGTCCTCAATCTGCAATAGAGCAGCTTCATCGATCCCCTCTTTTCTCCAGGAGTTAAGAACCAGTCCCACCCCATTCTAGGTTCTTCCCGGTCACGACAGGAATACAAGGAGCTTGCACTTCACACCCACAAGTCTTCAGGCCATTTAGGGTGTGTGCACTCATATGTATGTGTGCATGTGTACACACGTGTTCTTCTAACAGAAGAACCAGGCCATTACCTCTTCATTCTCATCAGGACTCCCCTTCAGAGACTGAAGATCAACCTCCCGCCAGCTGCAAAACCAAGAACAGACAATCATGAGATGGCAAGCAGGCTAAAACTGGGGGCAGGGTCAAAGTGTCCATGCAAGGATGAGAATCCTGCACCTGTGGGTGACACTGCTCTCTGCCGGGTAGGCTCTGCCCTATCACAGCTCAGTCTCCCTACCCTGTCAAGGCCTGTGAAATTGGCCACCTACTCAAATGCCCAAGAAGGCCAGAAATGAGAGAAGCGGCCTAGGGTAAGGCTGAGGCTGAGAGACTGTGACAAACACAAGAAAAGAAACCTGTTTAAAGAGGACCACCACTGTTCAGGACCAGCTGATTGCTCCCATATGGAAATGCATACCCAGGGTTGCCTAATCTTCTGTTTGGCAACAAAAGCTGGAAACAAAGATTTTTATGTGAAATCCTGCTTTGATGTTGACAACAAATTCAGTATTTTAAAACATACTGTATGTGTTGACAAAACCGGTCTCTAGACCAGTAAGTGAATGGCCTACCAGGCTGTGACTGCTGGTTCGTTTGGTGTATTCCTATAATGGAATGAGAGAGAACTATATACAGAAATAATTTCGTTCTTATCAGATAAGAATTTCTCTTAATGAGAAGACAGAACCAAAGACTAGGGCCCAACTCTTGGTCAGAAGAGAAGAGGGAAAAAGGGCAATAGCAGGAAGAATGGGGAGAGGAGCCAACTATTCTGAGCTTCTACCTGGGCGTAAGGATTTCCTTGTATTGCAGTTTCTCTACGCGAGTTGTTGCAGCAACAGACATTGGGATGACAATGTTGTTAATATCAAATGAGCTCTCTCCCCTTCTCCTCCTTACTGGCTGCTGCTGTAAGATAAAAATTAAGTTTAAAAGGAAGGTACAATTTTACAGACATCAAATCATTCATCTAAGAGTTAAAGCAGGATCACCAATAACCAAGCATCTGGGTCCTTGGGTTGAAGCTGAGTAATGACCATAGCAGCTGCTCCCACCTAGGAGTCAGTCTCCAACAGCAAAAAACCTCACGGAGAAATACCAGGTGGTCATGAGGAGTTAGTCCCATTCATAAGTCCCACTGGTCACCCTCTTCCTTCAAGGGCTCATGCGTAAATTTCATAGGGGTGGGTACCTGGGATCTTAACTGTTGGGGTTCCTACTCTATATACACCTCTATTAACCTCCTCTCCTTTTACAATCTTTATTTCCTTCCTTTATCCCCGTTTATGACTTAAGACTCATAGTGGCCCCTCCCCTAAAAGCAATGCTTGAAAGCTTATGCTGAAAGAGGCCCAAAGGATAGGCCCATCTCAATACATCATCTAACCTTGGTTGTCATGAATGCACCTCCTTCTCAAAGATCTGAACTCTTCAGCTAAATCTGCACCCACCATCTGCCCAGTCTTTATGTGATTTCCCCTCTTTTGATGATTCTTGGGGAAAGAGCTGAGAGCTTTCTAGCTGTATCAAAGGAGATGAATGGAGGGAAACTAAAGAGGAGAACCTGACTATACCTCACATTCCTGGTGAAAGGAAATTTGCTTCTATAGGAAATAGTTGAGAAGACCAAACTCTTGGAAAAATAAGACTTCCAAGGATCGAATATCAGAGGCAGAGGTAAGCATCTACAGTAGCTGGGAGACTAGGGAACTAAATGGCTTAGTCTCTTGGATGGAGGAAGAAGTCTACTAGCTGCTGCTGCCCAGATAGTTAATACCCTATCCTGAAACAGAGACTAGCAACTGAGCTGTGAGAGGCCAGAAGGAAACAGTGGCATAACAAACACGCTGCCATGGCAACAAAACAGCTGGAAAACACCTAAGAGGCTGCATTTATACCTAAACCACCAAGTGTGGTCAGTCCACAGGGAAGGGGTTGGAGGAGTAAGAAGTCCCCTATAACTAACCCCTCTATCCTCTGTTCCTGGACGGTGAGATACCCTTTATTCATCCTATCATCTTAGGACATTCTCAGAGAATGTTAAAAGTCAGCACTTCCTGGGCCAGAGTTTCAGTCACTGTCNNN | benign | 277,496 |
Gene KANSL1 (KAT8 regulatory NSL complex subunit 1) variant at chromosome position 46171364 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Koolen-de_Vries_syndrome'] | GCACAGTGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAACGTCTCTGTCTCCACCATGCCAATTTGGAGTGCCACCCATAAAAAGCTTATGTAAAATTTTCTCAAACCAACAGATTTAGAAAAACCAGTAAGATGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGGCCAGCCTGGTCGACACGGTGAAACTCAGTCTCTACTTAAGAAAAGAAAAAAGAAAAAAATTAGCCTGACTTGGTGGCGGGTACCTGTAATCCCAGCTACTTAGGGAGGCTGAGGCCCGAGAATCACCTGAACCCAGGAGCCAGAGGCTTCAGTGAGCTGAGATCGCACTACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGCGGAACTGTCTCAAAACAAAACAAAACAAAAAACAACAAAAAAAACAACCCAGTAAGAATTTATTCCAAATACATCAATACATTTAACTCAGCTTAACAAATCTGCTTAAAATGGGCTTTTTTTTTTTTTTAATAGGAAGAGAGTCAGGTTGTGAAACTAGACTGTGCTTGGAGGCGATGTATTAAATATTCTGAAGCATTTTCTAATTGTCAGTCCTTAAAATGTAAGAAAATCTCAAGTGTTAAAATTGAAGACTGGGTGTGCTCTCTGCTGAAAGTTCAATCAAAAGCAACTGTAATTTCCTACAAAGGTAACTAGGTCAACTCAGCATTTGTCCCTGCTTACTGGAAACAACAAAATCTCAACAATCAGGCCATTAACTTATCATGTCCTATATATAGTTTCAAAAGAAATCTAAATTCACTCTTAAAGAGGTACTAGTACAATTTTACACATAAGATGTCTCCTAGTTATTTTTCTTAGACTTCAAAAGGAAATTACCACCATTTAGACTACAACAATACAACCCTACAGCAAAAGTATCTTCCCCTTCTTCACTAGCATGTATATGCACTCATCTACCCAACATCAGGGAAAAAACAAACAGAACCTAGACACCTATGTACAAAGAATCACATTCTCTCCATAATGGCGATTCATTCATTCTTCCTTGTGCCAACATTTCTCAAGAATGCTATCATGCATGAGGTCTACTCACAGGGGTACATGACGCTGCTCGGGATCAGCTCTGGTCAGTTCTTCCTCTTCAATATCAGACTCCCCTCCTGAACTACTGTCAGTGACATCTGAATCAAATGCCTGTTCACTGCACCTCAAGTTGGCTATGCCACTAGCTGTAAATCTCTCCAATTCTTCTGAAATTGAATTGCTTTTCAGAAAGTTGCTAAGTCCCTCTGAAGTGGTGGTCTCACTGGCAGCTTTTCTCAAGGCAGCTTCAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAAGGATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAAATCCACCCAGCTGATGTTGTATATGCCTCTCAACCTGCTTGGCTTGCACAACCTGTAAGCGCTTTTGTAATCTGCGGGCACGGCTCTCAATGTCAGCCTGTCGCCGCAGTAAAGCTGTTATCCTTGTGTCAGAATCTAAAGCACTGAAAAGAATGGAAGACAGGGGAGACTTTTTACCCTCCAATTTGACACCCCCCAAGTTAGAGCTGGAGTCTGTACCAGGTGATAATCTACTGCTTCCTTGAAGTGCCGGCTGTTCCATGGAATTGACAGAGGATTTGTTTGCAGTGCTATTATTGCTATACAAAGTTGTGTGTTCTACATCAAGGCTTCTATGTGGAAGAGTGCAATTGGTCATACCCCCCTTCAAGTCCCCAGATTCAGATCCTCCCATTTCACCCCCATGAAGAGCAGATGAAGTGAGAGCCCGTTTTCCCCCATTGAGGGAAGTGGAATTGTCATGATCAGAATGTGTTGAACTTTTAGTCAATTTCTTAGCCAACCCATTTACAGGTGCTTGTGGCAGAGCTGTCTGACCACTCGTATTCATGGTTCTAAGATTTTCTAAGGAAAACTCCAAAACTGGCTGTCTCCCCAACAGCTCAGCTCGGAGTTCATAGGACTGAGATAAGAGAGGATGAGATTTAAGGACTGTCTGCTTGCTGAAGACCCCTTGCAACTTCAAAGACTCCTTTGAGGGAACAGATGTTACATCAGAGCAGAGATAAGATGCCACCAGTGGTTGCAGCTTTCCCAAGTCTTCCTTGGTAGGATTATTTCGGAAATCTAGGCTGGGATCCTCTGCAGCAATGGCTTTTCTTTTGGTTCCGTTGGCAGCAATAAGGATGTTGGCGTTGCCGTTATTTTCGGCACTGCCAGGGGACAAGGTAGAGGATGGGGGAGCCAGTTTGAACCGGATATGGTGTGCTTCAGCTGCTGCGTCAGTGAGAGCGGGCGCCATCGCAGCCATTCAGCACAGAGAGACAGGAAGTCCAGCCTCTCCCGATGCCGAGGCCGAGGCCAGCTCCACGGCCCCTTACTGCCTCCCCAGAGAACAGACTAGAAGAGAAAGGAGAAAAGAATATTAGAAATACAAGCACTTTTAAAAACATGTATATTTTTAACAAAAGCACTACTTGAGGCTGTTGTCTAAACTGCCTCCAGAAAGAAAACACTCTGGAGCTAACTGTACCACAGTTATTCTAGAGACCCAAATATCTTTCATCTGGGAGAAAGGGGGAGGCAAAATCCCTGCACAAGGGAAGGAAGAATTGCACCCTTCTTGTCATTTGTTACCACAGATTGAAAGGTGCCAAAACACAAGTTCGATTCAGAGAAAATCACAGATTGTTAAAATTAAATCATCTCCATTAAAAAAAAATCTCTTTAAGCTTGTTGAAATAAATGGATTTAAAGCAAGACACATCAAACTAAGCAATAATTAAACAGAAAAAAATTAGTAAGGAATTCCCGTGTTCACTAAAAAAAGTATGCCAAATATCACAGGTCTGTGCATTTTTCTGGCCAGGGAATCCAGTTTTCATCAGCTTCTCACTTCTCTAGAAGTATAGATTATACTACAAAGCTAACTGTACCACATCTGTAATACCAACTTGTTTCATCAGTTTTCTTTTCTTTCAGATCAAAGTGGTCATCAATATCTTCTCTACTGGCTTCTTCCTCTCAGCCTAGGAATTTACTCAAGTATCTTCTGCCCTCAGTACAGCCTCTCTCTCATACTTAATTGCCCAAATATCTCTCTTTCCCTTTACCCCAAAACTTCTCTAAGAATAGTATAAATAACTGTCTCTGCACTCTTCACTCTTCCATAATCTGGATTTCACCCCCTACTGCTCTGGCAAAGGTGACCAGTAATCTTATTATCAAATCCAATGGTCAAACCTCAGTCCCCATTCTATCTGACTTCTCTGAAGCACTGGACAATACCGACCTTCTTCTAATTCTTTCCTGATGTCCTTGTACTATCATCCTCTTCTCTTCCTCCTGGACCCTTAAATGCTGGTGCTGCACAAGGTCCCTTCTGCCCTCTTCTCTCTCAACAACCACTAGTATGGTGAGGTTTCTTAACCATAAGAAAAACTTCTGAGCTGCACTAATCAAGATTCCTATAACCTCTATGTTCCTCAAGCCCCCTGAAGCTCAGAATTCACTTTCTCCTTCCAGCACACTATTCCGCATCCTGTTTCATTACCTTAAGTAATGACACTGCTTTTATTT | GCACAGTGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAACGTCTCTGTCTCCACCATGCCAATTTGGAGTGCCACCCATAAAAAGCTTATGTAAAATTTTCTCAAACCAACAGATTTAGAAAAACCAGTAAGATGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGGCCAGCCTGGTCGACACGGTGAAACTCAGTCTCTACTTAAGAAAAGAAAAAAGAAAAAAATTAGCCTGACTTGGTGGCGGGTACCTGTAATCCCAGCTACTTAGGGAGGCTGAGGCCCGAGAATCACCTGAACCCAGGAGCCAGAGGCTTCAGTGAGCTGAGATCGCACTACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGCGGAACTGTCTCAAAACAAAACAAAACAAAAAACAACAAAAAAAACAACCCAGTAAGAATTTATTCCAAATACATCAATACATTTAACTCAGCTTAACAAATCTGCTTAAAATGGGCTTTTTTTTTTTTTTAATAGGAAGAGAGTCAGGTTGTGAAACTAGACTGTGCTTGGAGGCGATGTATTAAATATTCTGAAGCATTTTCTAATTGTCAGTCCTTAAAATGTAAGAAAATCTCAAGTGTTAAAATTGAAGACTGGGTGTGCTCTCTGCTGAAAGTTCAATCAAAAGCAACTGTAATTTCCTACAAAGGTAACTAGGTCAACTCAGCATTTGTCCCTGCTTACTGGAAACAACAAAATCTCAACAATCAGGCCATTAACTTATCATGTCCTATATATAGTTTCAAAAGAAATCTAAATTCACTCTTAAAGAGGTACTAGTACAATTTTACACATAAGATGTCTCCTAGTTATTTTTCTTAGACTTCAAAAGGAAATTACCACCATTTAGACTACAACAATACAACCCTACAGCAAAAGTATCTTCCCCTTCTTCACTAGCATGTATATGCACTCATCTACCCAACATCAGGGAAAAAACAAACAGAACCTAGACACCTATGTACAAAGAATCACATTCTCTCCATAATGGCGATTCATTCATTCTTCCTTGTGCCAACATTTCTCAAGAATGCTATCATGCATGAGGTCTACTCACAGGGGTACATGACGCTGCTCGGGATCAGCTCTGGTCAGTTCTTCCTCTTCAATATCAGACTCCCCTCCTGAACTACTGTCAGTGACATCTGAATCAAATGCCTGTTCACTGCACCTCAAGTTGGCTATGCCACTAGCTGTAAATCTCTCCAATTCTTCTGAAATTGAATTGCTTTTCAGAAAGTTGCTAAGTCCCTCTGAAGTGGTGGTCTCACTGGCAGCTTTTCTCAAGGCAGCTTCAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAAGGATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAAATCCACCCAGCTGATGTTGTATATGCCTCTCAACCTGCTTGGCTTGCACAACCTGTAAGCGCTTTTGTAATCTGCGGGCACGGCTCTCAATGTCAGCCTGTCGCCGCAGTAAAGCTGTTATCCTTGTGTCAGAATCTAAAGCACTGAAAAGAATGGAAGACAGGGGAGACTTTTTACCCTCCAATTTGACACCCCCAAGTTAGAGCTGGAGTCTGTACCAGGTGATAATCTACTGCTTCCTTGAAGTGCCGGCTGTTCCATGGAATTGACAGAGGATTTGTTTGCAGTGCTATTATTGCTATACAAAGTTGTGTGTTCTACATCAAGGCTTCTATGTGGAAGAGTGCAATTGGTCATACCCCCCTTCAAGTCCCCAGATTCAGATCCTCCCATTTCACCCCCATGAAGAGCAGATGAAGTGAGAGCCCGTTTTCCCCCATTGAGGGAAGTGGAATTGTCATGATCAGAATGTGTTGAACTTTTAGTCAATTTCTTAGCCAACCCATTTACAGGTGCTTGTGGCAGAGCTGTCTGACCACTCGTATTCATGGTTCTAAGATTTTCTAAGGAAAACTCCAAAACTGGCTGTCTCCCCAACAGCTCAGCTCGGAGTTCATAGGACTGAGATAAGAGAGGATGAGATTTAAGGACTGTCTGCTTGCTGAAGACCCCTTGCAACTTCAAAGACTCCTTTGAGGGAACAGATGTTACATCAGAGCAGAGATAAGATGCCACCAGTGGTTGCAGCTTTCCCAAGTCTTCCTTGGTAGGATTATTTCGGAAATCTAGGCTGGGATCCTCTGCAGCAATGGCTTTTCTTTTGGTTCCGTTGGCAGCAATAAGGATGTTGGCGTTGCCGTTATTTTCGGCACTGCCAGGGGACAAGGTAGAGGATGGGGGAGCCAGTTTGAACCGGATATGGTGTGCTTCAGCTGCTGCGTCAGTGAGAGCGGGCGCCATCGCAGCCATTCAGCACAGAGAGACAGGAAGTCCAGCCTCTCCCGATGCCGAGGCCGAGGCCAGCTCCACGGCCCCTTACTGCCTCCCCAGAGAACAGACTAGAAGAGAAAGGAGAAAAGAATATTAGAAATACAAGCACTTTTAAAAACATGTATATTTTTAACAAAAGCACTACTTGAGGCTGTTGTCTAAACTGCCTCCAGAAAGAAAACACTCTGGAGCTAACTGTACCACAGTTATTCTAGAGACCCAAATATCTTTCATCTGGGAGAAAGGGGGAGGCAAAATCCCTGCACAAGGGAAGGAAGAATTGCACCCTTCTTGTCATTTGTTACCACAGATTGAAAGGTGCCAAAACACAAGTTCGATTCAGAGAAAATCACAGATTGTTAAAATTAAATCATCTCCATTAAAAAAAAATCTCTTTAAGCTTGTTGAAATAAATGGATTTAAAGCAAGACACATCAAACTAAGCAATAATTAAACAGAAAAAAATTAGTAAGGAATTCCCGTGTTCACTAAAAAAAGTATGCCAAATATCACAGGTCTGTGCATTTTTCTGGCCAGGGAATCCAGTTTTCATCAGCTTCTCACTTCTCTAGAAGTATAGATTATACTACAAAGCTAACTGTACCACATCTGTAATACCAACTTGTTTCATCAGTTTTCTTTTCTTTCAGATCAAAGTGGTCATCAATATCTTCTCTACTGGCTTCTTCCTCTCAGCCTAGGAATTTACTCAAGTATCTTCTGCCCTCAGTACAGCCTCTCTCTCATACTTAATTGCCCAAATATCTCTCTTTCCCTTTACCCCAAAACTTCTCTAAGAATAGTATAAATAACTGTCTCTGCACTCTTCACTCTTCCATAATCTGGATTTCACCCCCTACTGCTCTGGCAAAGGTGACCAGTAATCTTATTATCAAATCCAATGGTCAAACCTCAGTCCCCATTCTATCTGACTTCTCTGAAGCACTGGACAATACCGACCTTCTTCTAATTCTTTCCTGATGTCCTTGTACTATCATCCTCTTCTCTTCCTCCTGGACCCTTAAATGCTGGTGCTGCACAAGGTCCCTTCTGCCCTCTTCTCTCTCAACAACCACTAGTATGGTGAGGTTTCTTAACCATAAGAAAAACTTCTGAGCTGCACTAATCAAGATTCCTATAACCTCTATGTTCCTCAAGCCCCCTGAAGCTCAGAATTCACTTTCTCCTTCCAGCACACTATTCCGCATCCTGTTTCATTACCTTAAGTAATGACACTGCTTTTATTTN | pathogenic | 277,602 |
Determine if the mutation at chromosome 17, position 46171370 in gene KANSL1 (KAT8 regulatory NSL complex subunit 1) is benign or pathogenic. If pathogenic, what disease(s) is associated? | benign | TGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAACGTCTCTGTCTCCACCATGCCAATTTGGAGTGCCACCCATAAAAAGCTTATGTAAAATTTTCTCAAACCAACAGATTTAGAAAAACCAGTAAGATGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGGCCAGCCTGGTCGACACGGTGAAACTCAGTCTCTACTTAAGAAAAGAAAAAAGAAAAAAATTAGCCTGACTTGGTGGCGGGTACCTGTAATCCCAGCTACTTAGGGAGGCTGAGGCCCGAGAATCACCTGAACCCAGGAGCCAGAGGCTTCAGTGAGCTGAGATCGCACTACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGCGGAACTGTCTCAAAACAAAACAAAACAAAAAACAACAAAAAAAACAACCCAGTAAGAATTTATTCCAAATACATCAATACATTTAACTCAGCTTAACAAATCTGCTTAAAATGGGCTTTTTTTTTTTTTTAATAGGAAGAGAGTCAGGTTGTGAAACTAGACTGTGCTTGGAGGCGATGTATTAAATATTCTGAAGCATTTTCTAATTGTCAGTCCTTAAAATGTAAGAAAATCTCAAGTGTTAAAATTGAAGACTGGGTGTGCTCTCTGCTGAAAGTTCAATCAAAAGCAACTGTAATTTCCTACAAAGGTAACTAGGTCAACTCAGCATTTGTCCCTGCTTACTGGAAACAACAAAATCTCAACAATCAGGCCATTAACTTATCATGTCCTATATATAGTTTCAAAAGAAATCTAAATTCACTCTTAAAGAGGTACTAGTACAATTTTACACATAAGATGTCTCCTAGTTATTTTTCTTAGACTTCAAAAGGAAATTACCACCATTTAGACTACAACAATACAACCCTACAGCAAAAGTATCTTCCCCTTCTTCACTAGCATGTATATGCACTCATCTACCCAACATCAGGGAAAAAACAAACAGAACCTAGACACCTATGTACAAAGAATCACATTCTCTCCATAATGGCGATTCATTCATTCTTCCTTGTGCCAACATTTCTCAAGAATGCTATCATGCATGAGGTCTACTCACAGGGGTACATGACGCTGCTCGGGATCAGCTCTGGTCAGTTCTTCCTCTTCAATATCAGACTCCCCTCCTGAACTACTGTCAGTGACATCTGAATCAAATGCCTGTTCACTGCACCTCAAGTTGGCTATGCCACTAGCTGTAAATCTCTCCAATTCTTCTGAAATTGAATTGCTTTTCAGAAAGTTGCTAAGTCCCTCTGAAGTGGTGGTCTCACTGGCAGCTTTTCTCAAGGCAGCTTCAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAAGGATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAAATCCACCCAGCTGATGTTGTATATGCCTCTCAACCTGCTTGGCTTGCACAACCTGTAAGCGCTTTTGTAATCTGCGGGCACGGCTCTCAATGTCAGCCTGTCGCCGCAGTAAAGCTGTTATCCTTGTGTCAGAATCTAAAGCACTGAAAAGAATGGAAGACAGGGGAGACTTTTTACCCTCCAATTTGACACCCCCCAAGTTAGAGCTGGAGTCTGTACCAGGTGATAATCTACTGCTTCCTTGAAGTGCCGGCTGTTCCATGGAATTGACAGAGGATTTGTTTGCAGTGCTATTATTGCTATACAAAGTTGTGTGTTCTACATCAAGGCTTCTATGTGGAAGAGTGCAATTGGTCATACCCCCCTTCAAGTCCCCAGATTCAGATCCTCCCATTTCACCCCCATGAAGAGCAGATGAAGTGAGAGCCCGTTTTCCCCCATTGAGGGAAGTGGAATTGTCATGATCAGAATGTGTTGAACTTTTAGTCAATTTCTTAGCCAACCCATTTACAGGTGCTTGTGGCAGAGCTGTCTGACCACTCGTATTCATGGTTCTAAGATTTTCTAAGGAAAACTCCAAAACTGGCTGTCTCCCCAACAGCTCAGCTCGGAGTTCATAGGACTGAGATAAGAGAGGATGAGATTTAAGGACTGTCTGCTTGCTGAAGACCCCTTGCAACTTCAAAGACTCCTTTGAGGGAACAGATGTTACATCAGAGCAGAGATAAGATGCCACCAGTGGTTGCAGCTTTCCCAAGTCTTCCTTGGTAGGATTATTTCGGAAATCTAGGCTGGGATCCTCTGCAGCAATGGCTTTTCTTTTGGTTCCGTTGGCAGCAATAAGGATGTTGGCGTTGCCGTTATTTTCGGCACTGCCAGGGGACAAGGTAGAGGATGGGGGAGCCAGTTTGAACCGGATATGGTGTGCTTCAGCTGCTGCGTCAGTGAGAGCGGGCGCCATCGCAGCCATTCAGCACAGAGAGACAGGAAGTCCAGCCTCTCCCGATGCCGAGGCCGAGGCCAGCTCCACGGCCCCTTACTGCCTCCCCAGAGAACAGACTAGAAGAGAAAGGAGAAAAGAATATTAGAAATACAAGCACTTTTAAAAACATGTATATTTTTAACAAAAGCACTACTTGAGGCTGTTGTCTAAACTGCCTCCAGAAAGAAAACACTCTGGAGCTAACTGTACCACAGTTATTCTAGAGACCCAAATATCTTTCATCTGGGAGAAAGGGGGAGGCAAAATCCCTGCACAAGGGAAGGAAGAATTGCACCCTTCTTGTCATTTGTTACCACAGATTGAAAGGTGCCAAAACACAAGTTCGATTCAGAGAAAATCACAGATTGTTAAAATTAAATCATCTCCATTAAAAAAAAATCTCTTTAAGCTTGTTGAAATAAATGGATTTAAAGCAAGACACATCAAACTAAGCAATAATTAAACAGAAAAAAATTAGTAAGGAATTCCCGTGTTCACTAAAAAAAGTATGCCAAATATCACAGGTCTGTGCATTTTTCTGGCCAGGGAATCCAGTTTTCATCAGCTTCTCACTTCTCTAGAAGTATAGATTATACTACAAAGCTAACTGTACCACATCTGTAATACCAACTTGTTTCATCAGTTTTCTTTTCTTTCAGATCAAAGTGGTCATCAATATCTTCTCTACTGGCTTCTTCCTCTCAGCCTAGGAATTTACTCAAGTATCTTCTGCCCTCAGTACAGCCTCTCTCTCATACTTAATTGCCCAAATATCTCTCTTTCCCTTTACCCCAAAACTTCTCTAAGAATAGTATAAATAACTGTCTCTGCACTCTTCACTCTTCCATAATCTGGATTTCACCCCCTACTGCTCTGGCAAAGGTGACCAGTAATCTTATTATCAAATCCAATGGTCAAACCTCAGTCCCCATTCTATCTGACTTCTCTGAAGCACTGGACAATACCGACCTTCTTCTAATTCTTTCCTGATGTCCTTGTACTATCATCCTCTTCTCTTCCTCCTGGACCCTTAAATGCTGGTGCTGCACAAGGTCCCTTCTGCCCTCTTCTCTCTCAACAACCACTAGTATGGTGAGGTTTCTTAACCATAAGAAAAACTTCTGAGCTGCACTAATCAAGATTCCTATAACCTCTATGTTCCTCAAGCCCCCTGAAGCTCAGAATTCACTTTCTCCTTCCAGCACACTATTCCGCATCCTGTTTCATTACCTTAAGTAATGACACTGCTTTTATTTAGTAAC | TGAACTAACAAATGATAATAGAACTAGGTCTACAAGGAAGAAATTCAGCAAAAATTATCCATTTCTTCCTTCAAAATAGAAAAAAAAAGTTTCATTTCAGATACAATATCCATGCAGATAATATAAACAAAATTGGGAAACCAGAAAATTTACTTTTAAAAATCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAACGTCTCTGTCTCCACCATGCCAATTTGGAGTGCCACCCATAAAAAGCTTATGTAAAATTTTCTCAAACCAACAGATTTAGAAAAACCAGTAAGATGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGGCCAGCCTGGTCGACACGGTGAAACTCAGTCTCTACTTAAGAAAAGAAAAAAGAAAAAAATTAGCCTGACTTGGTGGCGGGTACCTGTAATCCCAGCTACTTAGGGAGGCTGAGGCCCGAGAATCACCTGAACCCAGGAGCCAGAGGCTTCAGTGAGCTGAGATCGCACTACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGCGGAACTGTCTCAAAACAAAACAAAACAAAAAACAACAAAAAAAACAACCCAGTAAGAATTTATTCCAAATACATCAATACATTTAACTCAGCTTAACAAATCTGCTTAAAATGGGCTTTTTTTTTTTTTTAATAGGAAGAGAGTCAGGTTGTGAAACTAGACTGTGCTTGGAGGCGATGTATTAAATATTCTGAAGCATTTTCTAATTGTCAGTCCTTAAAATGTAAGAAAATCTCAAGTGTTAAAATTGAAGACTGGGTGTGCTCTCTGCTGAAAGTTCAATCAAAAGCAACTGTAATTTCCTACAAAGGTAACTAGGTCAACTCAGCATTTGTCCCTGCTTACTGGAAACAACAAAATCTCAACAATCAGGCCATTAACTTATCATGTCCTATATATAGTTTCAAAAGAAATCTAAATTCACTCTTAAAGAGGTACTAGTACAATTTTACACATAAGATGTCTCCTAGTTATTTTTCTTAGACTTCAAAAGGAAATTACCACCATTTAGACTACAACAATACAACCCTACAGCAAAAGTATCTTCCCCTTCTTCACTAGCATGTATATGCACTCATCTACCCAACATCAGGGAAAAAACAAACAGAACCTAGACACCTATGTACAAAGAATCACATTCTCTCCATAATGGCGATTCATTCATTCTTCCTTGTGCCAACATTTCTCAAGAATGCTATCATGCATGAGGTCTACTCACAGGGGTACATGACGCTGCTCGGGATCAGCTCTGGTCAGTTCTTCCTCTTCAATATCAGACTCCCCTCCTGAACTACTGTCAGTGACATCTGAATCAAATGCCTGTTCACTGCACCTCAAGTTGGCTATGCCACTAGCTGTAAATCTCTCCAATTCTTCTGAAATTGAATTGCTTTTCAGAAAGTTGCTAAGTCCCTCTGAAGTGGTGGTCTCACTGGCAGCTTTTCTCAAGGCAGCTTCAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAAGGATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAAATCCACCCAGCTGATGTTGTATATGCCTCTCAACCTGCTTGGCTTGCACAACCTGTAAGCGCTTTTGTAATCTGCGGGCACGGCTCTCAATGTCAGCCTGTCGCCGCAGTAAAGCTGTTATCCTTGTGTCAGAATCTAAAGCACTGAAAAGAATGGAAGACAGGGGAGACTTTTTACCCTCCAATTTGACACCCCCTGAGTTAGAGCTGGAGTCTGTACCAGGTGATAATCTACTGCTTCCTTGAAGTGCCGGCTGTTCCATGGAATTGACAGAGGATTTGTTTGCAGTGCTATTATTGCTATACAAAGTTGTGTGTTCTACATCAAGGCTTCTATGTGGAAGAGTGCAATTGGTCATACCCCCCTTCAAGTCCCCAGATTCAGATCCTCCCATTTCACCCCCATGAAGAGCAGATGAAGTGAGAGCCCGTTTTCCCCCATTGAGGGAAGTGGAATTGTCATGATCAGAATGTGTTGAACTTTTAGTCAATTTCTTAGCCAACCCATTTACAGGTGCTTGTGGCAGAGCTGTCTGACCACTCGTATTCATGGTTCTAAGATTTTCTAAGGAAAACTCCAAAACTGGCTGTCTCCCCAACAGCTCAGCTCGGAGTTCATAGGACTGAGATAAGAGAGGATGAGATTTAAGGACTGTCTGCTTGCTGAAGACCCCTTGCAACTTCAAAGACTCCTTTGAGGGAACAGATGTTACATCAGAGCAGAGATAAGATGCCACCAGTGGTTGCAGCTTTCCCAAGTCTTCCTTGGTAGGATTATTTCGGAAATCTAGGCTGGGATCCTCTGCAGCAATGGCTTTTCTTTTGGTTCCGTTGGCAGCAATAAGGATGTTGGCGTTGCCGTTATTTTCGGCACTGCCAGGGGACAAGGTAGAGGATGGGGGAGCCAGTTTGAACCGGATATGGTGTGCTTCAGCTGCTGCGTCAGTGAGAGCGGGCGCCATCGCAGCCATTCAGCACAGAGAGACAGGAAGTCCAGCCTCTCCCGATGCCGAGGCCGAGGCCAGCTCCACGGCCCCTTACTGCCTCCCCAGAGAACAGACTAGAAGAGAAAGGAGAAAAGAATATTAGAAATACAAGCACTTTTAAAAACATGTATATTTTTAACAAAAGCACTACTTGAGGCTGTTGTCTAAACTGCCTCCAGAAAGAAAACACTCTGGAGCTAACTGTACCACAGTTATTCTAGAGACCCAAATATCTTTCATCTGGGAGAAAGGGGGAGGCAAAATCCCTGCACAAGGGAAGGAAGAATTGCACCCTTCTTGTCATTTGTTACCACAGATTGAAAGGTGCCAAAACACAAGTTCGATTCAGAGAAAATCACAGATTGTTAAAATTAAATCATCTCCATTAAAAAAAAATCTCTTTAAGCTTGTTGAAATAAATGGATTTAAAGCAAGACACATCAAACTAAGCAATAATTAAACAGAAAAAAATTAGTAAGGAATTCCCGTGTTCACTAAAAAAAGTATGCCAAATATCACAGGTCTGTGCATTTTTCTGGCCAGGGAATCCAGTTTTCATCAGCTTCTCACTTCTCTAGAAGTATAGATTATACTACAAAGCTAACTGTACCACATCTGTAATACCAACTTGTTTCATCAGTTTTCTTTTCTTTCAGATCAAAGTGGTCATCAATATCTTCTCTACTGGCTTCTTCCTCTCAGCCTAGGAATTTACTCAAGTATCTTCTGCCCTCAGTACAGCCTCTCTCTCATACTTAATTGCCCAAATATCTCTCTTTCCCTTTACCCCAAAACTTCTCTAAGAATAGTATAAATAACTGTCTCTGCACTCTTCACTCTTCCATAATCTGGATTTCACCCCCTACTGCTCTGGCAAAGGTGACCAGTAATCTTATTATCAAATCCAATGGTCAAACCTCAGTCCCCATTCTATCTGACTTCTCTGAAGCACTGGACAATACCGACCTTCTTCTAATTCTTTCCTGATGTCCTTGTACTATCATCCTCTTCTCTTCCTCCTGGACCCTTAAATGCTGGTGCTGCACAAGGTCCCTTCTGCCCTCTTCTCTCTCAACAACCACTAGTATGGTGAGGTTTCTTAACCATAAGAAAAACTTCTGAGCTGCACTAATCAAGATTCCTATAACCTCTATGTTCCTCAAGCCCCCTGAAGCTCAGAATTCACTTTCTCCTTCCAGCACACTATTCCGCATCCTGTTTCATTACCTTAAGTAATGACACTGCTTTTATTTAGTAAC | benign | 277,603 |
Variant in KANSL1 (KAT8 regulatory NSL complex subunit 1), chromosome 17, position 46171532—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Koolen-de_Vries_syndrome'] | TCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAACGTCTCTGTCTCCACCATGCCAATTTGGAGTGCCACCCATAAAAAGCTTATGTAAAATTTTCTCAAACCAACAGATTTAGAAAAACCAGTAAGATGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGGCCAGCCTGGTCGACACGGTGAAACTCAGTCTCTACTTAAGAAAAGAAAAAAGAAAAAAATTAGCCTGACTTGGTGGCGGGTACCTGTAATCCCAGCTACTTAGGGAGGCTGAGGCCCGAGAATCACCTGAACCCAGGAGCCAGAGGCTTCAGTGAGCTGAGATCGCACTACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGCGGAACTGTCTCAAAACAAAACAAAACAAAAAACAACAAAAAAAACAACCCAGTAAGAATTTATTCCAAATACATCAATACATTTAACTCAGCTTAACAAATCTGCTTAAAATGGGCTTTTTTTTTTTTTTAATAGGAAGAGAGTCAGGTTGTGAAACTAGACTGTGCTTGGAGGCGATGTATTAAATATTCTGAAGCATTTTCTAATTGTCAGTCCTTAAAATGTAAGAAAATCTCAAGTGTTAAAATTGAAGACTGGGTGTGCTCTCTGCTGAAAGTTCAATCAAAAGCAACTGTAATTTCCTACAAAGGTAACTAGGTCAACTCAGCATTTGTCCCTGCTTACTGGAAACAACAAAATCTCAACAATCAGGCCATTAACTTATCATGTCCTATATATAGTTTCAAAAGAAATCTAAATTCACTCTTAAAGAGGTACTAGTACAATTTTACACATAAGATGTCTCCTAGTTATTTTTCTTAGACTTCAAAAGGAAATTACCACCATTTAGACTACAACAATACAACCCTACAGCAAAAGTATCTTCCCCTTCTTCACTAGCATGTATATGCACTCATCTACCCAACATCAGGGAAAAAACAAACAGAACCTAGACACCTATGTACAAAGAATCACATTCTCTCCATAATGGCGATTCATTCATTCTTCCTTGTGCCAACATTTCTCAAGAATGCTATCATGCATGAGGTCTACTCACAGGGGTACATGACGCTGCTCGGGATCAGCTCTGGTCAGTTCTTCCTCTTCAATATCAGACTCCCCTCCTGAACTACTGTCAGTGACATCTGAATCAAATGCCTGTTCACTGCACCTCAAGTTGGCTATGCCACTAGCTGTAAATCTCTCCAATTCTTCTGAAATTGAATTGCTTTTCAGAAAGTTGCTAAGTCCCTCTGAAGTGGTGGTCTCACTGGCAGCTTTTCTCAAGGCAGCTTCAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAAGGATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAAATCCACCCAGCTGATGTTGTATATGCCTCTCAACCTGCTTGGCTTGCACAACCTGTAAGCGCTTTTGTAATCTGCGGGCACGGCTCTCAATGTCAGCCTGTCGCCGCAGTAAAGCTGTTATCCTTGTGTCAGAATCTAAAGCACTGAAAAGAATGGAAGACAGGGGAGACTTTTTACCCTCCAATTTGACACCCCCCAAGTTAGAGCTGGAGTCTGTACCAGGTGATAATCTACTGCTTCCTTGAAGTGCCGGCTGTTCCATGGAATTGACAGAGGATTTGTTTGCAGTGCTATTATTGCTATACAAAGTTGTGTGTTCTACATCAAGGCTTCTATGTGGAAGAGTGCAATTGGTCATACCCCCCTTCAAGTCCCCAGATTCAGATCCTCCCATTTCACCCCCATGAAGAGCAGATGAAGTGAGAGCCCGTTTTCCCCCATTGAGGGAAGTGGAATTGTCATGATCAGAATGTGTTGAACTTTTAGTCAATTTCTTAGCCAACCCATTTACAGGTGCTTGTGGCAGAGCTGTCTGACCACTCGTATTCATGGTTCTAAGATTTTCTAAGGAAAACTCCAAAACTGGCTGTCTCCCCAACAGCTCAGCTCGGAGTTCATAGGACTGAGATAAGAGAGGATGAGATTTAAGGACTGTCTGCTTGCTGAAGACCCCTTGCAACTTCAAAGACTCCTTTGAGGGAACAGATGTTACATCAGAGCAGAGATAAGATGCCACCAGTGGTTGCAGCTTTCCCAAGTCTTCCTTGGTAGGATTATTTCGGAAATCTAGGCTGGGATCCTCTGCAGCAATGGCTTTTCTTTTGGTTCCGTTGGCAGCAATAAGGATGTTGGCGTTGCCGTTATTTTCGGCACTGCCAGGGGACAAGGTAGAGGATGGGGGAGCCAGTTTGAACCGGATATGGTGTGCTTCAGCTGCTGCGTCAGTGAGAGCGGGCGCCATCGCAGCCATTCAGCACAGAGAGACAGGAAGTCCAGCCTCTCCCGATGCCGAGGCCGAGGCCAGCTCCACGGCCCCTTACTGCCTCCCCAGAGAACAGACTAGAAGAGAAAGGAGAAAAGAATATTAGAAATACAAGCACTTTTAAAAACATGTATATTTTTAACAAAAGCACTACTTGAGGCTGTTGTCTAAACTGCCTCCAGAAAGAAAACACTCTGGAGCTAACTGTACCACAGTTATTCTAGAGACCCAAATATCTTTCATCTGGGAGAAAGGGGGAGGCAAAATCCCTGCACAAGGGAAGGAAGAATTGCACCCTTCTTGTCATTTGTTACCACAGATTGAAAGGTGCCAAAACACAAGTTCGATTCAGAGAAAATCACAGATTGTTAAAATTAAATCATCTCCATTAAAAAAAAATCTCTTTAAGCTTGTTGAAATAAATGGATTTAAAGCAAGACACATCAAACTAAGCAATAATTAAACAGAAAAAAATTAGTAAGGAATTCCCGTGTTCACTAAAAAAAGTATGCCAAATATCACAGGTCTGTGCATTTTTCTGGCCAGGGAATCCAGTTTTCATCAGCTTCTCACTTCTCTAGAAGTATAGATTATACTACAAAGCTAACTGTACCACATCTGTAATACCAACTTGTTTCATCAGTTTTCTTTTCTTTCAGATCAAAGTGGTCATCAATATCTTCTCTACTGGCTTCTTCCTCTCAGCCTAGGAATTTACTCAAGTATCTTCTGCCCTCAGTACAGCCTCTCTCTCATACTTAATTGCCCAAATATCTCTCTTTCCCTTTACCCCAAAACTTCTCTAAGAATAGTATAAATAACTGTCTCTGCACTCTTCACTCTTCCATAATCTGGATTTCACCCCCTACTGCTCTGGCAAAGGTGACCAGTAATCTTATTATCAAATCCAATGGTCAAACCTCAGTCCCCATTCTATCTGACTTCTCTGAAGCACTGGACAATACCGACCTTCTTCTAATTCTTTCCTGATGTCCTTGTACTATCATCCTCTTCTCTTCCTCCTGGACCCTTAAATGCTGGTGCTGCACAAGGTCCCTTCTGCCCTCTTCTCTCTCAACAACCACTAGTATGGTGAGGTTTCTTAACCATAAGAAAAACTTCTGAGCTGCACTAATCAAGATTCCTATAACCTCTATGTTCCTCAAGCCCCCTGAAGCTCAGAATTCACTTTCTCCTTCCAGCACACTATTCCGCATCCTGTTTCATTACCTTAAGTAATGACACTGCTTTTATTTAGTAACCAAGCTAAAAATCTCAGTCATTTGCCTCTGTTTGATCCCCCTTGATCTATGTGGTCTGGGAGCCAAAGGAAACATACGTAAAGAACTAAGCCAGTTGTTCTTTAAAGTGTGGTCTCTGGACTTCTGGGGATCTCACAGGCTATTTTGGAGGTTCGTGAAATC | TCATAGCTGTCTCAACAACCAAACACTCCAGTGAAAATCTTCATCACCTTTTAATACAGTCAAGGAAACACCAATTCTTCCCACATATTCATCTTTTTCAGCCTTCTCTAGTAAGCCAGCCTCTAGCAAAGAGAAAATGAAAGATCTGCTAGTCAATTATCCTGCCCCTCTTTTCCAACTCCTCATGCTCTCTCTCAAATCTGATATTCCTAAGGAGATAAATGCACTTATTTAACATGTATCTTTAAGTATGTTATAATATAGTACTGCTTTATTTAATTAAGTACATAGATGCTGAATTGGGAGTGACAGGAATGAAACGTCTCTGTCTCCACCATGCCAATTTGGAGTGCCACCCATAAAAAGCTTATGTAAAATTTTCTCAAACCAACAGATTTAGAAAAACCAGTAAGATGAGGTGGGCGGATCACGAGGTCAGGAGTTTGAGGCCAGCCTGGTCGACACGGTGAAACTCAGTCTCTACTTAAGAAAAGAAAAAAGAAAAAAATTAGCCTGACTTGGTGGCGGGTACCTGTAATCCCAGCTACTTAGGGAGGCTGAGGCCCGAGAATCACCTGAACCCAGGAGCCAGAGGCTTCAGTGAGCTGAGATCGCACTACTGCACTCCTGCACTCCAGCCTGGGCGACAGAGCGGAACTGTCTCAAAACAAAACAAAACAAAAAACAACAAAAAAAACAACCCAGTAAGAATTTATTCCAAATACATCAATACATTTAACTCAGCTTAACAAATCTGCTTAAAATGGGCTTTTTTTTTTTTTTAATAGGAAGAGAGTCAGGTTGTGAAACTAGACTGTGCTTGGAGGCGATGTATTAAATATTCTGAAGCATTTTCTAATTGTCAGTCCTTAAAATGTAAGAAAATCTCAAGTGTTAAAATTGAAGACTGGGTGTGCTCTCTGCTGAAAGTTCAATCAAAAGCAACTGTAATTTCCTACAAAGGTAACTAGGTCAACTCAGCATTTGTCCCTGCTTACTGGAAACAACAAAATCTCAACAATCAGGCCATTAACTTATCATGTCCTATATATAGTTTCAAAAGAAATCTAAATTCACTCTTAAAGAGGTACTAGTACAATTTTACACATAAGATGTCTCCTAGTTATTTTTCTTAGACTTCAAAAGGAAATTACCACCATTTAGACTACAACAATACAACCCTACAGCAAAAGTATCTTCCCCTTCTTCACTAGCATGTATATGCACTCATCTACCCAACATCAGGGAAAAAACAAACAGAACCTAGACACCTATGTACAAAGAATCACATTCTCTCCATAATGGCGATTCATTCATTCTTCCTTGTGCCAACATTTCTCAAGAATGCTATCATGCATGAGGTCTACTCACAGGGGTACATGACGCTGCTCGGGATCAGCTCTGGTCAGTTCTTCCTCTTCAATATCAGACTCCCCTCCTGAACTACTGTCAGTGACATCTGAATCAAATGCCTGTTCACTGCACCTCAAGTTGGCTATGCCACTAGCTGTAAATCTCTCCAATTCTTCTGAAATTGAATTGCTTTTCAGAAAGTTGCTAAGTCCCTCTGAAGTGGTGGTCTCACTGGCAGCTTTTCTCAAGGCAGCTTCAGCCTTTCGAGTCAGCATCAACTGGCTCCGTGGTCTCAAGGATTCCAAGTTTGGCAGTTTGCTCAAAGTCTTCTCCAAAAATCCACCCAGCTGATGTTGTATATGCCTCTCAACCTGCTTGGCTTGCACAACCTGTAAGCGCTTTTGTAATCTGCGGGCACGGCTCTCAATGTCAGCCTGTCGCCGCAGTAAAGCTGTTATCCTTGTGTCAGAATCTAAAGCACTGAAAAGAATGGAAGACAGGGGAGACTTTTTACCCTCCAATTTGACACCCCCCAAGTTAGAGCTGGAGTCTGTACCAGGTGATAATCTACTGCTTCCTTGAAGTGCCGGCTGTTCCATGGAATTGACAGAGGATTTGTTTGCAGTGCTATTATTGCTATACAAAGTTGTGTGTTCTACATCAAGGCTTCTATGTGGAAGAGTGCAATTGGTCATACCCCCCCTTCAAGTCCCCAGATTCAGATCCTCCCATTTCACCCCCATGAAGAGCAGATGAAGTGAGAGCCCGTTTTCCCCCATTGAGGGAAGTGGAATTGTCATGATCAGAATGTGTTGAACTTTTAGTCAATTTCTTAGCCAACCCATTTACAGGTGCTTGTGGCAGAGCTGTCTGACCACTCGTATTCATGGTTCTAAGATTTTCTAAGGAAAACTCCAAAACTGGCTGTCTCCCCAACAGCTCAGCTCGGAGTTCATAGGACTGAGATAAGAGAGGATGAGATTTAAGGACTGTCTGCTTGCTGAAGACCCCTTGCAACTTCAAAGACTCCTTTGAGGGAACAGATGTTACATCAGAGCAGAGATAAGATGCCACCAGTGGTTGCAGCTTTCCCAAGTCTTCCTTGGTAGGATTATTTCGGAAATCTAGGCTGGGATCCTCTGCAGCAATGGCTTTTCTTTTGGTTCCGTTGGCAGCAATAAGGATGTTGGCGTTGCCGTTATTTTCGGCACTGCCAGGGGACAAGGTAGAGGATGGGGGAGCCAGTTTGAACCGGATATGGTGTGCTTCAGCTGCTGCGTCAGTGAGAGCGGGCGCCATCGCAGCCATTCAGCACAGAGAGACAGGAAGTCCAGCCTCTCCCGATGCCGAGGCCGAGGCCAGCTCCACGGCCCCTTACTGCCTCCCCAGAGAACAGACTAGAAGAGAAAGGAGAAAAGAATATTAGAAATACAAGCACTTTTAAAAACATGTATATTTTTAACAAAAGCACTACTTGAGGCTGTTGTCTAAACTGCCTCCAGAAAGAAAACACTCTGGAGCTAACTGTACCACAGTTATTCTAGAGACCCAAATATCTTTCATCTGGGAGAAAGGGGGAGGCAAAATCCCTGCACAAGGGAAGGAAGAATTGCACCCTTCTTGTCATTTGTTACCACAGATTGAAAGGTGCCAAAACACAAGTTCGATTCAGAGAAAATCACAGATTGTTAAAATTAAATCATCTCCATTAAAAAAAAATCTCTTTAAGCTTGTTGAAATAAATGGATTTAAAGCAAGACACATCAAACTAAGCAATAATTAAACAGAAAAAAATTAGTAAGGAATTCCCGTGTTCACTAAAAAAAGTATGCCAAATATCACAGGTCTGTGCATTTTTCTGGCCAGGGAATCCAGTTTTCATCAGCTTCTCACTTCTCTAGAAGTATAGATTATACTACAAAGCTAACTGTACCACATCTGTAATACCAACTTGTTTCATCAGTTTTCTTTTCTTTCAGATCAAAGTGGTCATCAATATCTTCTCTACTGGCTTCTTCCTCTCAGCCTAGGAATTTACTCAAGTATCTTCTGCCCTCAGTACAGCCTCTCTCTCATACTTAATTGCCCAAATATCTCTCTTTCCCTTTACCCCAAAACTTCTCTAAGAATAGTATAAATAACTGTCTCTGCACTCTTCACTCTTCCATAATCTGGATTTCACCCCCTACTGCTCTGGCAAAGGTGACCAGTAATCTTATTATCAAATCCAATGGTCAAACCTCAGTCCCCATTCTATCTGACTTCTCTGAAGCACTGGACAATACCGACCTTCTTCTAATTCTTTCCTGATGTCCTTGTACTATCATCCTCTTCTCTTCCTCCTGGACCCTTAAATGCTGGTGCTGCACAAGGTCCCTTCTGCCCTCTTCTCTCTCAACAACCACTAGTATGGTGAGGTTTCTTAACCATAAGAAAAACTTCTGAGCTGCACTAATCAAGATTCCTATAACCTCTATGTTCCTCAAGCCCCCTGAAGCTCAGAATTCACTTTCTCCTTCCAGCACACTATTCCGCATCCTGTTTCATTACCTTAAGTAATGACACTGCTTTTATTTAGTAACCAAGCTAAAAATCTCAGTCATTTGCCTCTGTTTGATCCCCCTTGATCTATGTGGTCTGGGAGCCAAAGGAAACATACGTAAAGAACTAAGCCAGTTGTTCTTTAAAGTGTGGTCTCTGGACTTCTGGGGATCTCACAGGCTATTTTGGAGGTTCGTGAAAT | pathogenic | 277,622 |
A mutation at chromosome position 46192787 on chromosome 17 in gene KANSL1 (KAT8 regulatory NSL complex subunit 1): benign or pathogenic? If pathogenic, which disease(s) is it linked to? | benign | CAAATACACCAAATATGCTAAAGGTCGAAGGAACGGCACACTTTGTTGCATAAACCTAGTGGAAATCCAATTCAGAATTTCATGACTGAAGGTAGTTATTCCACATTTATAATACATTTTTTAAATTCCCAAGGGATGAGCATTTTTACCTTGCCTTATTTTTAGAACTACACATCACACTGCACATATCACATGACATGATGTAACTGTTAGCAAAGAAAATGGTCCAAACCATTGACAATGTACATGGTAAATCAGGATCAATGCATACTCAAGAACCACATTTCGTATTTACTTTAAAAAAAAAGTTTCTTAATTCAAAATGTTTTTTCAAATTGAAAAAATGTCTAGTAACCTATGTAGAAAAAACCAGAAATGTACTTCGTATTTTATAAAATAGGAGTTTACCCAATTATGGGAAAAACTGATATAAAGAAACAGATAAAGGAATAACATACTTCTAAAACTACAGGATTAAAAGTAAAAATTTTCTAGATCAACACCGAAATGCTAATAAATACACTTAGCATTAGGCACAAAACAATTACTACTCAAAAGTATTCACTGTTGATAGGTTAAAAAAATAGTTTTAACTGACAACGCCTGTAGACAATTGAAATTTTCTAAATTGGTCAGACAGCATGCTAGAAAAGGAACCAAGTAGAGCCTATAGGAAAGGGGAAAGGGAAAACACACCCACTTAAGCCTTTGTAAATAGTGGTCCTTTAACTGACCCAAAAAGCAGAGAAAACAGAAATTACAGACCATCCTGACAAATGGAAAACATATTCTAACGTACTAGTTTCCATACTTGAAAGGACTTTCAAAATGAAGTTCAGTAGCAATCTATAACTATATCATGATTATGCAAGGCAAAGATTATGTAATTTTATCGTTTATTTTAAAATGTTCTCCGACTCTAAAACTAAAACAAGTAAAACGTTTTGATCTCTCCAAAGCGAAAAGGAAAGGTTCCTCTGAGCTGCAATTTAAAAATATAAACACACACCCCAAAACAAACAAAAAAACACAATGATTGCTAGCCACGTGACAAAGGAGATGGCAACACCAGGATTGTGAATGGAGGGGAGGGAGGCGAGGCTGGAGGAAGAGAGATTTCTCGGAACTTTGGGGACCGCGGCAGTCGGTCTGCCGACCCTAGGAGCACTAAACTCCAGCCCCTACGAGTTGTGCTTCTAACACCCTCAAGTACAGTTTTATTAATAAGTCACAGAAAATGCTCCAGTGACCTCCAGGATAAAGGGGGGTGGGGGGGACCGAGGAAAAGGAAAGAGAGCAATTTAAAGTGGCGCCATCATGTCACCCCTTCTCCCCTAAAGCAATCAGTAAGCAATAGTTAAGTAGCACGTTTCTCTATAAATCCACATTGGGATTCCAACATTGGAAAACGAGGATTTTTAAGTAAGACACGGGAGTAGCGCTGTTTATCGTATGGAAAACAAACTATTTGCTAAGAATCAAAAGACCGTCAGCCGGAAAACAGGCCCCCAAAAAGGCAGTTAAGATTCCAACTCACTTAAAAGCAAATAAATCCCTCTTCCTCTTTAGTTTAAAAAAAAAAAAAGTCCGCCTGAGGGAGACTACATCTGAAAACGTAAGTGACCTGAATTTACAGGCAACAAAAATAATAAATGAAACAATCAGAGTTGTGATACAAACCGTGCAACGCGCCAAGATGTGTGTTTCGAGCAGAGAAAGGCCTTTTGCAGTCAAGAGAAGTTCAAGGCGAGAGCCAGAGTTTGTTTGGGGGGTTCTTTTACGGGAATAAATCATGTTCTTCAGGCCGCCTTTTTAAATAGAACGCCAAAGGAAAAGCTGGCGAACGAGGCGGCAGCTCCTGGGGAAGGGCCCCCGCACACCCCCGCCCTTGGGGCGACTCCCAGCCCGGACCCGCAGCAGGGAAGCCCGGAGAGGCCATTTAAAGTTCCGGGGGATTTTTCTACCCTGCCCTGCCTTTCTAGTTACAACTAACAAAGAGAGAGAGAAATGGGAGCCACAGGGAGAGCGAGGAGAAGGAGAAAGGGCAGCAGGAGGAGGAGGAGAGGAGCAGCAGCAGCACCTACCACGTGATGGAGGAGCGTAGCCCGGGCGGATTCAGCCCCACAAAATGGGCGCAGTTTGCAAACAGCCCCCCGGCCTGGGCGCCGAGGGCCAGCGGCGGGCGGGGGCGCGCGACGGCGGCTCCGGCCCGGGCCCGCCGCTCTCCTCCCCCCGACGCCCGGAGCCGCCCTGACTTTCCGGGCGGGGGGGCGAGGCAGAGGGGGAGGGGAAGGCGGCGGCGGGGAGCGGCTGCTTTTTCTTCTCTTTCGGGCCCTTTCCCGGCCTTGCTCCGCACCGACGGGGCCCGAGCACGGCTGGAGACCGCAGCCCGGCCGGGAGGGCGGGCGGGCGGGGGCAGAGAGTGAAACCGCCCCCCCGCCCCGCACAAACAAGCACCGCCGTCTGCAGCCCGAACCCGCACCCAGGCCGCCACCCCCGGCCGCCTCTTTCCAGCCGGGGAGCGCGCTTCAGCCGCCCCCCGCGCCGCCGCGGCGAGACGAGTCGGCTTCGCTACGGTGCTCGGTTCTCCCGCCGGCTCGGCGAGCGGTGGCGGCGGTGGCGGCGGCACTGGGAAAATGGCGGCCGAGCTCCTTTTCCCTCCCCCCCTTTAATCTGAAGCGGAGGGAGAATGGAGCGAGCGAGCAAGCGGGCGAGCGCCGGGGACACGGGGAGGAGGGACAGCAGCGCCTCCGCCGGCTGCGGCTGCGGCGGCGAAGGGCCGCTCCACCCCGGCGCGCCGCCAGGGGGCGCCCGCCGCGCCGCCCCCGCGGGCCGCCAGGAGGCGCGGCCGCCGCCGCCTCAGTCATGGCTCCTCGCCGTGGCCGATGTTTTTGTACCTCCATCTGCGGAGGCCGCGGCGCCCGGCCCCAGCTGCCCCGGACGTGCGGCGACGGCACGCAGCACTGCGGCAGGGGGAAGCCAGCCCTCGCTGCGGCCGAGGTGAGTCTAACCTGAGGCACTGACGCCGTCACATGCCCTCCGTGCTGGGGCCGGCGGTGCGGCTCGCCAGTTGAGGGGCAGGGCGGGCCGGCGCCGCGGAGCGAGAGGACGTGAGCGAGGAACTGTTTGCACTGTGTAGTAAAGAGGGTAAGGCCGTCGGCACCACACTATTCCAAGGCTAACCCTGCAGAAAGCTCCCTGACCAGTGAAGCGGCTTCCGCCGCCCGCCCTTTGTCCCTAGCAGCCAGCCTCCGTATACTGCAGCACGGCTGGGCACTAGCCCCAGCACCGCGCTCCGCAGCCACCAGAGTTGGGCGGGGTGGGGAGGGTGCACGTAGTCACTGCGCAGGCCCCAGCCAGGGCCCGCGCCGGGCCAGCCCGGGAAGGGACAGCCGGGAGCCAGAGGGGAAGTGATGGCCCCGCCGGCGCCGGGCCCGCTGGGAACTGTAGTTTTCGTGAAGAAACACGCGTCTTGTTTTGGGTGTCATGGCTTGGCAGATCCGCCAAAACAGGCAAATGGCATTACACAATGAGTATTTATGCTTCCTGCCGCCACCAAAAGGAAGTTCACTGCCATGCTAAAAGTTTAACAAAGAACTCCATAAAGAAACACAAGTCTCACAACAAAAAGCCAACTTCCCACCTCGTTACCAGAGTTGGTTTAAAGTGGTGGCACCTTATCATTTCTCATGACCAGTTTATCAGTACAGAACTTTATATTGTCCCCAAAATAGGACCTTTAAAATAATGGAACCTTTCCTAGACTTAAAGAATTCATAAACATAATGTAATACAAAGTGTCACACAAAGTGTAATTCTACCACCCTTTAAAGTTGCCAAAAGATGAGTGGAGTATCTTGAGATTTAAAAGACTAATCTAGGATTCATCAAAACTGGCTTAAATGACTGAAGAAAAAATCGTTCAAATCATTAAATCATCAAATTCGGCAGATAAGAAGGGTATGTATGCTCTACTACCAAAAAGGAAGACGCAAAATGCTTCACACTTTTTTGTGGCTTACCAGAACCAATATCCGGCATTATACGTCACTTCTGCTTATCAAAAAACACCCTCACAGTCGTTACAGAACGGTTT | CAAATACACCAAATATGCTAAAGGTCGAAGGAACGGCACACTTTGTTGCATAAACCTAGTGGAAATCCAATTCAGAATTTCATGACTGAAGGTAGTTATTCCACATTTATAATACATTTTTTAAATTCCCAAGGGATGAGCATTTTTACCTTGCCTTATTTTTAGAACTACACATCACACTGCACATATCACATGACATGATGTAACTGTTAGCAAAGAAAATGGTCCAAACCATTGACAATGTACATGGTAAATCAGGATCAATGCATACTCAAGAACCACATTTCGTATTTACTTTAAAAAAAAAGTTTCTTAATTCAAAATGTTTTTTCAAATTGAAAAAATGTCTAGTAACCTATGTAGAAAAAACCAGAAATGTACTTCGTATTTTATAAAATAGGAGTTTACCCAATTATGGGAAAAACTGATATAAAGAAACAGATAAAGGAATAACATACTTCTAAAACTACAGGATTAAAAGTAAAAATTTTCTAGATCAACACCGAAATGCTAATAAATACACTTAGCATTAGGCACAAAACAATTACTACTCAAAAGTATTCACTGTTGATAGGTTAAAAAAATAGTTTTAACTGACAACGCCTGTAGACAATTGAAATTTTCTAAATTGGTCAGACAGCATGCTAGAAAAGGAACCAAGTAGAGCCTATAGGAAAGGGGAAAGGGAAAACACACCCACTTAAGCCTTTGTAAATAGTGGTCCTTTAACTGACCCAAAAAGCAGAGAAAACAGAAATTACAGACCATCCTGACAAATGGAAAACATATTCTAACGTACTAGTTTCCATACTTGAAAGGACTTTCAAAATGAAGTTCAGTAGCAATCTATAACTATATCATGATTATGCAAGGCAAAGATTATGTAATTTTATCGTTTATTTTAAAATGTTCTCCGACTCTAAAACTAAAACAAGTAAAACGTTTTGATCTCTCCAAAGCGAAAAGGAAAGGTTCCTCTGAGCTGCAATTTAAAAATATAAACACACACCCCAAAACAAACAAAAAAACACAATGATTGCTAGCCACGTGACAAAGGAGATGGCAACACCAGGATTGTGAATGGAGGGGAGGGAGGCGAGGCTGGAGGAAGAGAGATTTCTCGGAACTTTGGGGACCGCGGCAGTCGGTCTGCCGACCCTAGGAGCACTAAACTCCAGCCCCTACGAGTTGTGCTTCTAACACCCTCAAGTACAGTTTTATTAATAAGTCACAGAAAATGCTCCAGTGACCTCCAGGATAAAGGGGGGTGGGGGGGACCGAGGAAAAGGAAAGAGAGCAATTTAAAGTGGCGCCATCATGTCACCCCTTCTCCCCTAAAGCAATCAGTAAGCAATAGTTAAGTAGCACGTTTCTCTATAAATCCACATTGGGATTCCAACATTGGAAAACGAGGATTTTTAAGTAAGACACGGGAGTAGCGCTGTTTATCGTATGGAAAACAAACTATTTGCTAAGAATCAAAAGACCGTCAGCCGGAAAACAGGCCCCCAAAAAGGCAGTTAAGATTCCAACTCACTTAAAAGCAAATAAATCCCTCTTCCTCTTTAGTTTAAAAAAAAAAAAAGTCCGCCTGAGGGAGACTACATCTGAAAACGTAAGTGACCTGAATTTACAGGCAACAAAAATAATAAATGAAACAATCAGAGTTGTGATACAAACCGTGCAACGCGCCAAGATGTGTGTTTCGAGCAGAGAAAGGCCTTTTGCAGTCAAGAGAAGTTCAAGGCGAGAGCCAGAGTTTGTTTGGGGGGTTCTTTTACGGGAATAAATCATGTTCTTCAGGCCGCCTTTTTAAATAGAACGCCAAAGGAAAAGCTGGCGAACGAGGCGGCAGCTCCTGGGGAAGGGCCCCCGCACACCCCCGCCCTTGGGGCGACTCCCAGCCCGGACCCGCAGCAGGGAAGCCCGGAGAGGCCATTTAAAGTTCCGGGGGATTTTTCTACCCTGCCCTGCCTTTCTAGTTACAACTAACAAAGAGAGAGAGAAATGGGAGCCACAGGGAGAGCGAGGAGAAGGAGAAAGGGCAGCAGGAGGAGGAGAGGAGCAGCAGCAGCACCTACCACGTGATGGAGGAGCGTAGCCCGGGCGGATTCAGCCCCACAAAATGGGCGCAGTTTGCAAACAGCCCCCCGGCCTGGGCGCCGAGGGCCAGCGGCGGGCGGGGGCGCGCGACGGCGGCTCCGGCCCGGGCCCGCCGCTCTCCTCCCCCCGACGCCCGGAGCCGCCCTGACTTTCCGGGCGGGGGGGCGAGGCAGAGGGGGAGGGGAAGGCGGCGGCGGGGAGCGGCTGCTTTTTCTTCTCTTTCGGGCCCTTTCCCGGCCTTGCTCCGCACCGACGGGGCCCGAGCACGGCTGGAGACCGCAGCCCGGCCGGGAGGGCGGGCGGGCGGGGGCAGAGAGTGAAACCGCCCCCCCGCCCCGCACAAACAAGCACCGCCGTCTGCAGCCCGAACCCGCACCCAGGCCGCCACCCCCGGCCGCCTCTTTCCAGCCGGGGAGCGCGCTTCAGCCGCCCCCCGCGCCGCCGCGGCGAGACGAGTCGGCTTCGCTACGGTGCTCGGTTCTCCCGCCGGCTCGGCGAGCGGTGGCGGCGGTGGCGGCGGCACTGGGAAAATGGCGGCCGAGCTCCTTTTCCCTCCCCCCCTTTAATCTGAAGCGGAGGGAGAATGGAGCGAGCGAGCAAGCGGGCGAGCGCCGGGGACACGGGGAGGAGGGACAGCAGCGCCTCCGCCGGCTGCGGCTGCGGCGGCGAAGGGCCGCTCCACCCCGGCGCGCCGCCAGGGGGCGCCCGCCGCGCCGCCCCCGCGGGCCGCCAGGAGGCGCGGCCGCCGCCGCCTCAGTCATGGCTCCTCGCCGTGGCCGATGTTTTTGTACCTCCATCTGCGGAGGCCGCGGCGCCCGGCCCCAGCTGCCCCGGACGTGCGGCGACGGCACGCAGCACTGCGGCAGGGGGAAGCCAGCCCTCGCTGCGGCCGAGGTGAGTCTAACCTGAGGCACTGACGCCGTCACATGCCCTCCGTGCTGGGGCCGGCGGTGCGGCTCGCCAGTTGAGGGGCAGGGCGGGCCGGCGCCGCGGAGCGAGAGGACGTGAGCGAGGAACTGTTTGCACTGTGTAGTAAAGAGGGTAAGGCCGTCGGCACCACACTATTCCAAGGCTAACCCTGCAGAAAGCTCCCTGACCAGTGAAGCGGCTTCCGCCGCCCGCCCTTTGTCCCTAGCAGCCAGCCTCCGTATACTGCAGCACGGCTGGGCACTAGCCCCAGCACCGCGCTCCGCAGCCACCAGAGTTGGGCGGGGTGGGGAGGGTGCACGTAGTCACTGCGCAGGCCCCAGCCAGGGCCCGCGCCGGGCCAGCCCGGGAAGGGACAGCCGGGAGCCAGAGGGGAAGTGATGGCCCCGCCGGCGCCGGGCCCGCTGGGAACTGTAGTTTTCGTGAAGAAACACGCGTCTTGTTTTGGGTGTCATGGCTTGGCAGATCCGCCAAAACAGGCAAATGGCATTACACAATGAGTATTTATGCTTCCTGCCGCCACCAAAAGGAAGTTCACTGCCATGCTAAAAGTTTAACAAAGAACTCCATAAAGAAACACAAGTCTCACAACAAAAAGCCAACTTCCCACCTCGTTACCAGAGTTGGTTTAAAGTGGTGGCACCTTATCATTTCTCATGACCAGTTTATCAGTACAGAACTTTATATTGTCCCCAAAATAGGACCTTTAAAATAATGGAACCTTTCCTAGACTTAAAGAATTCATAAACATAATGTAATACAAAGTGTCACACAAAGTGTAATTCTACCACCCTTTAAAGTTGCCAAAAGATGAGTGGAGTATCTTGAGATTTAAAAGACTAATCTAGGATTCATCAAAACTGGCTTAAATGACTGAAGAAAAAATCGTTCAAATCATTAAATCATCAAATTCGGCAGATAAGAAGGGTATGTATGCTCTACTACCAAAAAGGAAGACGCAAAATGCTTCACACTTTTTTGTGGCTTACCAGAACCAATATCCGGCATTATACGTCACTTCTGCTTATCAAAAAACACCCTCACAGTCGTTACAGAACGGTTTNNN | benign | 277,652 |
Evaluate the clinical significance of the mutation at chromosome 17, position 46773649 in gene WNT3: benign or pathogenic? What disease(s) does a pathogenic variant suggest? | benign | CGCGCGGTGTCACACCGCATTACCCGCATAATGCGGCCGCCGGGCCCGGGCCGCCGGGCCGGCCGCCACCGCGTAGCAACGGGCGGCTCCCGCGGCCGGGCCGCGCCCCCGGCCCCGGCGCCGGGCCGCGAAATCCCCATTGAAGCGGCGCCCCCCGCCCCCGCGCCGCGCCGCGCCGCGCCGCGCCGAATGGCCAGAGGGCGTGTGAATGGCGCGGCGGCCGCGCGGTGGGGGGGCGGTGCTCGGGCGCTTTTCAGGCCGCCCAGGCCCCTCCGGCGCCCGCCCCCGCCCCTGCCCCCGCCCCCGCCTGGGGAAGCGCCTCGGGCCCGCCGCGCCGCCGCCGCGCCTCGCCCCTTCCGGCCGCCGACCCCGCCGCCCCCAGACTCGCGGAAGACGCGCGCCCCGGGCTGCCCGACCCGCTGCGCCCCGGGTCTCAAAGCGCGGGGCAGAGATTAACCCTTGGCCGCCCACGCGGCGGTGGTGTGGGGACTCGCCGGGGGCGGGGTGCAAACGTGGGGCCGGAGCTGGGCGCGAACCTGGGTTCAAGGTCCGGGCTCTGGGCACCGACCGGGGCGCGTATGCGCTCGCGGCGTCTTCCGGGATGCTCTCCTCGCCGCCGCCAGCAAATTCCCAAACTCTCGGGCACACATCGCCCCTCCCCCCGCAACCCAAACCTGTCCTCGGGCCATCTAGGGACCGGGGCGTGTGCCAGAACCTACGGTGGTGACTTAAAACGTTCAACGCGGAGTGAATGGGTAGCGCTCCCAGAGCCGCTTTCCCCTGGCTCTTGGCCGGAGACGGGAAGAGCGATCAGAGGTGACTCGCTTTTGGGGAGCGCGTCTAGACGCAGGGTTGTTTGATTCAGCGCTACCTGGCCCGAGGAGGGGCACCGGAAAGCGCTGAGACCAACACACCGACAAGAACGAGTTTGAAATGCAAACCGCCGCCACTTGGCCCCAATTAAGAGGCCAAATCTTTTATGTCAACAAGGAATAATTAGTTTTGGCAATAGAAGCGTAAACAGAATCATCATCCATTGATTTGCTAATTACCCTCCTGTCCCATGACAATAGCCAGCACTTTGCCTGTAGGTGGGACAGACCCTGAGCACCTGAGGCACCGGTAAAGGGGAACTGCACTCTAAAATGGGGGTTGTCAGCTTCCCCCCCAACCCCACCCAGCACCCCACCCCTTCACCTGAACGTCAGATCCCTTTTCTTTCTGGCTGTATAGGCAGCTCTCATTCATTCCCTAGCTTCTAATAGGAGGGAGGGCCAGGCTCAGCGGTTTGGGTGGCAGAGCAACTCTGGCTGTGGCCAGCCCGGCCAGGATCGTTAAATTCCTGGACACTGCCGTTCCACAAAGAGCTGCCCATCTTCCACCCAGTCCATGAGCCCCCAAGTCCCCTTCTTGGGAGGAGTTGTCCCACTTAGCCTCCCTCCCAGGGCCTGCAGGTTCAAAGTCAAATCATGTGGTTCCCTGTCCACTTGAGGCACAGCCAGTTAGACTCCCAGGCTGCAAGACGGCCGGAAAGTTACCCAGAGGCCAGTGCACCCTCTAGCCCCACCATGATTCCTGGGCATATCCAGCTGACAGGGCATGAGGATGAACAGAAACCTAGAGGGGCTCTTGGGGGCAACGCAATGCTACCACAGCACCAGGCAGCTTCCTCACCTACTGAGGACTTTCTAGATGGGAGGGACCTAGGGGTGGCAATGCTCTCACCCCCACCCCAAAGCGGTATTTGCATAGCACTTAACACAGCATTGGGGAAATGTCACAAATGTCCACAGCAGGAGCCTGAGGCGCCCACTGTGCAAAAGCCAGGAAGGAAGTCTGTGGCCTTCTTGGTGTCGGCCCTCAAACCTCAGGATCCTGGAGCATCTCAAGGCGGCCCAGCCCCCAGCAGCGCCTGGGAAGGTGTGGCAGTCATGCAACCAAATTTATCACCCTCCCAGAGGGACCCTGGCTTCAGAGAAGAGGCACCCTGACTGGGGTGGAAGGGCATACAGTCCTGATCCCTCCCCCCACCCAGCCCCTCCCCCCCCCTCAGCCCCAAGGCAGTACCTTTGTCGAGGACGGGCCCAAAGATGGCCAGGCTGTCATCTATGGTGGTGCAGTTCCAGCGGCGGCCCCGGAACTGGTGCTGGCACTCCTGGATGCCCAGCTTCACGCCCTCGGCCACGCTGGGCATGATCTCGATGTAATTGCGGCAGAAGCGCAGTTGCTTGGGGACCAGGCCTGGGATGGAGCCGCAGAGCAGGGGCTGTGAGCCCAGAGATGTGTACTGCTGGCCCAGGGCCAGGGACCTGCAGGCAGACAGAGGGTAGTAACACTGTGGGCACAAAGCACAGAGCCCATCCTGGGCACCATGGCCGCTTTGTGAACCCTCCGGGGTAGGTGGAGAGGCAGAGGGCCTGTGCCCTGGCACCTGAATGTGCTACCTTTGACCTCGGGAGCATGCCGCCCCTCAAAGCGCAGAGCTCTGACCCACGCAAGTCAGCCCTCTGGCTGCATCCAGCTTGCAGGGGGATGGGACCGCAGAAGCCGCTTGTGGGGGCCCTTGGGGGCAATGCAAAGCCATGAAAAGAGGTTTGGACTAGAAAGATGGTATTTGGGGCCCAGATCCAGTCCTTTCCAGGTTCTGGGTCCAGCTTCCCTGATGGGCATTGAAGAGATCAGGCTGGGCAATTTCCAAGGCAGTCCAGGATACTGGGGCCACATGGACACTTCCAGTGACTCATGGGACACGCGCGCGCGCGCACACACACACACTACCCTTGGCAATGCCCTCAGCCTCTTCCCTGCGATGGTGCCAGCCCAGCCCAGAGCCTCCCAGTATCTCCCCAAGGAATTGCTGGCTTGCACCAAGTCCTTTGTCTACCAGGGCCTCCATGACCATCTTTCCAGTTTCCTAGAAGTTTCTAGAGCTCCACCTCTTTTCTCATGAGAGACTGGAGCTTGGCTTTGTGTCAAAACAAGTTTAGCACAGAGTCAGAAGGGAGATCTCAGATCTCACTGCCCACACCCAACACCAGGTGACTGGTCAATTCACTCCATTCCTCTGCCCCTCGCTTTGTAATCAATATCCCATCAACTCTCTCAGGTTTTATAGTCAACAACAGAAAGAATGACCTTATGGGGGTGGGGCAGAAGAGTTTAAAATACTAGAAAACCAAGGTAGGAATTACGACTTTTCCGTTCCCTGCCCTCAGCACAGGAACAGCAGAAATGACATTTTCTGGGAGAACCTGAGAAAATGATCCGTGAGTGTCAGTGGCCTTCAAGGACAATTGCAATCTGCTGTATGACCAGGGGCAGTGTGAGCTGGAAGAAGGGGCCCATCTCCTCTCCCTCTGTGTCCAGCACTGACCAAGGCTTTGGTCCAGCATTGGCCTAAGTCAAGTTTCCCACAAAAAGTGATGGGCAAAAGCCTCGGAAAGAGGGGCCGGGAGAAGACCCCATGGGGCAGGGTGAGGTTTTTTGTGTGCTTTTTAGTACACAAAAGCTTCTGGGCTGGACACAGGGCCGAGCCAAACATCTGCCATTTGGCAACTGTTACTGCTTGCCAGGCACTTTATATACAACATTTCTGATCAATTCCCAAACATGAAGAACATCACTATCTCCTGGACTAGGAAACTGAGGTTTAGAGAGTGAATTAGCTTGCCTACGGCTTTTTGGTCTGTGGTGGGTCAGAGAGTGCCATGTGCCTTCCCCCGGGTCCCTCCTCCATACTTGAGCTTGATGTTGGCCTTGGCCAATTCGTGGAGACTCCAAGGCACAGAGCTCCCTGGGCACCGTGCAGGGGCATGCTACCCATCCACCTTGGTTGTCTCCAGGCTCAGTTGTCAGGGGGAGAGGCAGGTTCTCCTTTTTCCATTTGTTTATTTTGGGTGGAGGAACTGAGGAGCCAGATCTGGGAGTTTGGATGGTAACATCTGTGAGGCATTCCAGGTCTTAAGCACTGAGCTTTTTCTAAAGAGAAAGAAGCAGCAGCCAGAAGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAATGCAGTGACGTGATCTCGGCTCACTGCAAGC | CGCGCGGTGTCACACCGCATTACCCGCATAATGCGGCCGCCGGGCCCGGGCCGCCGGGCCGGCCGCCACCGCGTAGCAACGGGCGGCTCCCGCGGCCGGGCCGCGCCCCCGGCCCCGGCGCCGGGCCGCGAAATCCCCATTGAAGCGGCGCCCCCCGCCCCCGCGCCGCGCCGCGCCGCGCCGCGCCGAATGGCCAGAGGGCGTGTGAATGGCGCGGCGGCCGCGCGGTGGGGGGGCGGTGCTCGGGCGCTTTTCAGGCCGCCCAGGCCCCTCCGGCGCCCGCCCCCGCCCCTGCCCCCGCCCCCGCCTGGGGAAGCGCCTCGGGCCCGCCGCGCCGCCGCCGCGCCTCGCCCCTTCCGGCCGCCGACCCCGCCGCCCCCAGACTCGCGGAAGACGCGCGCCCCGGGCTGCCCGACCCGCTGCGCCCCGGGTCTCAAAGCGCGGGGCAGAGATTAACCCTTGGCCGCCCACGCGGCGGTGGTGTGGGGACTCGCCGGGGGCGGGGTGCAAACGTGGGGCCGGAGCTGGGCGCGAACCTGGGTTCAAGGTCCGGGCTCTGGGCACCGACCGGGGCGCGTATGCGCTCGCGGCGTCTTCCGGGATGCTCTCCTCGCCGCCGCCAGCAAATTCCCAAACTCTCGGGCACACATCGCCCCTCCCCCCGCAACCCAAACCTGTCCTCGGGCCATCTAGGGACCGGGGCGTGTGCCAGAACCTACGGTGGTGACTTAAAACGTTCAACGCGGAGTGAATGGGTAGCGCTCCCAGAGCCGCTTTCCCCTGGCTCTTGGCCGGAGACGGGAAGAGCGATCAGAGGTGACTCGCTTTTGGGGAGCGCGTCTAGACGCAGGGTTGTTTGATTCAGCGCTACCTGGCCCGAGGAGGGGCACCGGAAAGCGCTGAGACCAACACACCGACAAGAACGAGTTTGAAATGCAAACCGCCGCCACTTGGCCCCAATTAAGAGGCCAAATCTTTTATGTCAACAAGGAATAATTAGTTTTGGCAATAGAAGCGTAAACAGAATCATCATCCATTGATTTGCTAATTACCCTCCTGTCCCATGACAATAGCCAGCACTTTGCCTGTAGGTGGGACAGACCCTGAGCACCTGAGGCACCGGTAAAGGGGAACTGCACTCTAAAATGGGGGTTGTCAGCTTCCCCCCCAACCCCACCCAGCACCCCACCCCTTCACCTGAACGTCAGATCCCTTTTCTTTCTGGCTGTATAGGCAGCTCTCATTCATTCCCTAGCTTCTAATAGGAGGGAGGGCCAGGCTCAGCGGTTTGGGTGGCAGAGCAACTCTGGCTGTGGCCAGCCCGGCCAGGATCGTTAAATTCCTGGACACTGCCGTTCCACAAAGAGCTGCCCATCTTCCACCCAGTCCATGAGCCCCCAAGTCCCCTTCTTGGGAGGAGTTGTCCCACTTAGCCTCCCTCCCAGGGCCTGCAGGTTCAAAGTCAAATCATGTGGTTCCCTGTCCACTTGAGGCACAGCCAGTTAGACTCCCAGGCTGCAAGACGGCCGGAAAGTTACCCAGAGGCCAGTGCACCCTCTAGCCCCACCATGATTCCTGGGCATATCCAGCTGACAGGGCATGAGGATGAACAGAAACCTAGAGGGGCTCTTGGGGGCAACGCAATGCTACCACAGCACCAGGCAGCTTCCTCACCTACTGAGGACTTTCTAGATGGGAGGGACCTAGGGGTGGCAATGCTCTCACCCCCACCCCAAAGCGGTATTTGCATAGCACTTAACACAGCATTGGGGAAATGTCACAAATGTCCACAGCAGGAGCCTGAGGCGCCCACTGTGCAAAAGCCAGGAAGGAAGTCTGTGGCCTTCTTGGTGTCGGCCCTCAAACCTCAGGATCCTGGAGCATCTCAAGGCGGCCCAGCCCCCAGCAGCGCCTGGGAAGGTGTGGCAGTCATGCAACCAAATTTATCACCCTCCCAGAGGGACCCTGGCTTCAGAGAAGAGGCACCCTGACTGGGGTGGAAGGGCATACAGTCCTGATCCCTCCCCCCACCCAGCCCCTCCCCCCCCCCAGCCCCAAGGCAGTACCTTTGTCGAGGACGGGCCCAAAGATGGCCAGGCTGTCATCTATGGTGGTGCAGTTCCAGCGGCGGCCCCGGAACTGGTGCTGGCACTCCTGGATGCCCAGCTTCACGCCCTCGGCCACGCTGGGCATGATCTCGATGTAATTGCGGCAGAAGCGCAGTTGCTTGGGGACCAGGCCTGGGATGGAGCCGCAGAGCAGGGGCTGTGAGCCCAGAGATGTGTACTGCTGGCCCAGGGCCAGGGACCTGCAGGCAGACAGAGGGTAGTAACACTGTGGGCACAAAGCACAGAGCCCATCCTGGGCACCATGGCCGCTTTGTGAACCCTCCGGGGTAGGTGGAGAGGCAGAGGGCCTGTGCCCTGGCACCTGAATGTGCTACCTTTGACCTCGGGAGCATGCCGCCCCTCAAAGCGCAGAGCTCTGACCCACGCAAGTCAGCCCTCTGGCTGCATCCAGCTTGCAGGGGGATGGGACCGCAGAAGCCGCTTGTGGGGGCCCTTGGGGGCAATGCAAAGCCATGAAAAGAGGTTTGGACTAGAAAGATGGTATTTGGGGCCCAGATCCAGTCCTTTCCAGGTTCTGGGTCCAGCTTCCCTGATGGGCATTGAAGAGATCAGGCTGGGCAATTTCCAAGGCAGTCCAGGATACTGGGGCCACATGGACACTTCCAGTGACTCATGGGACACGCGCGCGCGCGCACACACACACACTACCCTTGGCAATGCCCTCAGCCTCTTCCCTGCGATGGTGCCAGCCCAGCCCAGAGCCTCCCAGTATCTCCCCAAGGAATTGCTGGCTTGCACCAAGTCCTTTGTCTACCAGGGCCTCCATGACCATCTTTCCAGTTTCCTAGAAGTTTCTAGAGCTCCACCTCTTTTCTCATGAGAGACTGGAGCTTGGCTTTGTGTCAAAACAAGTTTAGCACAGAGTCAGAAGGGAGATCTCAGATCTCACTGCCCACACCCAACACCAGGTGACTGGTCAATTCACTCCATTCCTCTGCCCCTCGCTTTGTAATCAATATCCCATCAACTCTCTCAGGTTTTATAGTCAACAACAGAAAGAATGACCTTATGGGGGTGGGGCAGAAGAGTTTAAAATACTAGAAAACCAAGGTAGGAATTACGACTTTTCCGTTCCCTGCCCTCAGCACAGGAACAGCAGAAATGACATTTTCTGGGAGAACCTGAGAAAATGATCCGTGAGTGTCAGTGGCCTTCAAGGACAATTGCAATCTGCTGTATGACCAGGGGCAGTGTGAGCTGGAAGAAGGGGCCCATCTCCTCTCCCTCTGTGTCCAGCACTGACCAAGGCTTTGGTCCAGCATTGGCCTAAGTCAAGTTTCCCACAAAAAGTGATGGGCAAAAGCCTCGGAAAGAGGGGCCGGGAGAAGACCCCATGGGGCAGGGTGAGGTTTTTTGTGTGCTTTTTAGTACACAAAAGCTTCTGGGCTGGACACAGGGCCGAGCCAAACATCTGCCATTTGGCAACTGTTACTGCTTGCCAGGCACTTTATATACAACATTTCTGATCAATTCCCAAACATGAAGAACATCACTATCTCCTGGACTAGGAAACTGAGGTTTAGAGAGTGAATTAGCTTGCCTACGGCTTTTTGGTCTGTGGTGGGTCAGAGAGTGCCATGTGCCTTCCCCCGGGTCCCTCCTCCATACTTGAGCTTGATGTTGGCCTTGGCCAATTCGTGGAGACTCCAAGGCACAGAGCTCCCTGGGCACCGTGCAGGGGCATGCTACCCATCCACCTTGGTTGTCTCCAGGCTCAGTTGTCAGGGGGAGAGGCAGGTTCTCCTTTTTCCATTTGTTTATTTTGGGTGGAGGAACTGAGGAGCCAGATCTGGGAGTTTGGATGGTAACATCTGTGAGGCATTCCAGGTCTTAAGCACTGAGCTTTTTCTAAAGAGAAAGAAGCAGCAGCCAGAAGTTCTTTTTTTTTTTTTTTTTTTTTTGAGACAGAGTCTCGCTGTGTCACCCAGGCTGGAATGCAGTGACGTGATCTCGGCTCACTGCAAGCN | benign | 277,667 |
Is the chromosome 17, position 46923211 variant in GOSR2 clinically benign or pathogenic? If pathogenic, what condition(s) is associated? | pathogenic; ['GOSR2-related_disorder', 'Inborn_genetic_diseases', 'Muscular_dystrophy', 'Progressive_myoclonic_epilepsy'] | CAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACAAAGAGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAACAAGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGACCATTAAAAAGTCAGGAAACAACAGCTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTACACTGTTGGTGGGACTGTTAACTGGTTCAACCATTGTGGAAGACAGTGTGGAGATTTCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATTTACATGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACCTGGAACCAACCCAAATGTCCAACAATGACAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACACGGATGAAGCTGGAAACCAACATTCTCAGCAAACTATCGCAAGGACAAAAAAACAAACATTACATGTTCTCACTCATAGGTGGGAACTGAACGATGAGAACACTTGGACACAGGAAGGGGGACATCACACTTCGGGGCCTGTTGTGGGGTGGGGAGAGGGGGAAGGGATAGCATTAGGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAACCCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAATAATAAAATAAAGAAAAAAAATCTATAACTACATTTCTTGTAATTTTGTCTTTTGAGAGTATACATATCTTATTTCCTTTCCCAGACCAGAACCTCTTTGAGGGCAGGAGGAACCCGGTTTTCCCTACTTTACACATGACACATAATAACCACTCATTCAATGTAGGTTTACTGGATGGATAAATAGGAATGGGGGGTAGATAGGCGGGAGAGTGAGTAGACAAATGCGAAACAGGAAAAGCTTGCGCCAGGAAAAACAGTGAAGAGCGAAATCTCCAGACCCCCGATTAAATGGTTTAAAGTGAAGCCAAGCAAGAACCTCCAGTCCTCTCTGCGGCAGAGAACAGCAGATGATAGCGGCTCGCCTTCAACTTTGCTCTGAGGACCTCTCGTTAGTATCCCGCGATTGTCCTTCCTAACGCCTGACTGAATCCTGAGGCTAGCCTTCAGCGAACATGTACACCGCCTTGCCCTTCACGTGAAGCCGAGCCTGTGACTACACTTATCCTTCCGTCGCCGGCCTCATTTCTCCTTCCCCTTCTCCGATCTCGCAACCACTGCTAGTAAGGCGCGCGTGCGGGCAGCCCTGGCCGGCAGGGGAGGGAGGGTCCTGCGACCGGAAGCCGGAAACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCGGGGCCGGCGACATGGATCCCCTGTTCCAGCAAACGCACAAGTGAGGGCCGGTCGGGGAGCGGGCAGGGGCTAGACGAGGCGAGGCCAGGTGAGCCTGGCTTCTGGGGCTGAGGCCTCGGACGTCAGCCAGGGTAGAGGCCGAGTTTTTCCGCCAGGGCACTGCTGGGGATGCCTCCGAAGTGCTTAATCCTTGGCGGGACTCCCAGGTCAGCCACAGACAGTGGGTTCAGGCTGGGGCCTGGAGACGTGGGGCAGATGACTCCTGGGGTCTGCAAGTTCGTGACTACCTGCTGGGTAGACTGGGTGACGGGAAACTGGCACCTGCAGGTTATAAAACTTTGTCCAGCACTTGTCAACTCGGTGCTCCTGGTTGGTAGACCTCGAGAGGAGACACGGAGTAGGAGACACGGCCCCTGGCCGTAGGAGTGTACTGTTTAATTGGAGAGTCAGGGCACGTACGGGAAAGTATTTGTATTCTTATTCGATTTATACTAAAGACCACATTTTTATGGTACAAAGAAATTGCTGTCCACGTAGCATTCACTATTATTACTTGTTAATCGTATCTGGTTACAGGTTATCGCTAAGAAAATCAAATTGTAATTTAGTTTCTCATAACTTAAATTCCTTGGTAGTGTCCTTTATTCGCATCGTCCTGCACTTTCGGAATTGCTGAGATACGTAGTTGAGTATTAATGGGGCCATACTTACCCTATTTTTGGGGGCGGGGGGCAGAATTATGATTTTTACCCTGTTTTGGAGGGACGGAATTTTATGATTTTTATTTTTTATTGTAAAATATACACAACATAAGATTTACTGTTTTAACAATTTTTAAGTGTACAATTCAGTGACATTGAGTACATTCACAACTTACATCACTACGATCCATTTCCAGAACTTTTTCATCATCCCAGTGTGCCTGTTAATCAGTAGCACTTCATTTCTTCCTTCCAGAACACCTAGTAACCTCTGTTTTACTTCTCTCTATGAGTTTACCTATTCTAGATACTTAATATAAGTGGAGTCATACAGAATTTGTCCTTTTGTATCTGGCTTATTTCACTTAATGTTTTCAGGGTTCATCTATATTGTAGCCTGTTACCAGAATTTCATTCTGTTTTATGACGGAATAATATTCCGTTTTATGTGTCTACCACATTTTGTTATCCATTCATCTGTTGATGGACACTTGAGTTGTTTCCACCATTGGGCTGTTGAGAATAATACTGCTATGAACTCTGGTGTAGAAGTATCTGTTTTAGTTTCTCTTCTCAATTTTTTGAGGTATATACCTATCCTATTGAGAACTTTCAAACTTATGCTGTAGTTTTGTTGATTAAAACACTTAAAATCACACTCCCAAGGCCTGGAAATGAAATGCCCTGAAGCATGAGGAATAAGAGGGTGATGATCCTCTTTCTCTTTCATTTTCTAAGTTTATGGGTTTCTTTTATTTTGGCGATGAGGTGTTTCATTTGGACAGGCGAAAATACAGAACCTACTTTGTAATGACAGAATTTTCTTTTACACTGGGGAGCCCTATTCTCACATAAACGTTATAGGAAGGGACTTAAAACTAGTCTGTGAGTAATTTAGAGAAAGAATGAAACGAAATTATGTTCATGTTACTAAGAAAGGGCCTATCTTTCACAATAGCAGGGCACAATGGGCATAGTAGTGCCTTGAAGTTAATCTGTTATGTATGGTCTTATCTAGTTAATTTAGTTAAAGGATGTTGCCAAGAAGGCCATGACCCATTTTATATTCAAGAATAACTTTATTTAGAGAGTCTTAGACTACCTGTTTTCAGTGCAGCTAATCACAGAGAAAACTGCATGGCTCAGAAGAGGAATTCTAAATGGTACCCCAAACAAGGTGTGTGGAGTGTAGATGCTCTGTAGGCCTCCAACAATGCACCCTTGGACTCTAGCAGCTTGCCAGTTTTTTCTATTAAGGGCCAGATAGTAAATATTTTAGGCTCTGTGGGCTATACGGTCTCTGTAGTTACTACTCTGCTGTTATATTGGGAAAACAGCCATAGACAATATGTAAACTAATTGATGTACCTGTGTTC | CAAGGATGGAAGAGGCCCTTGGGCCTGACAACACGCATACGGTTAAGGCATTACCACCTACTTCGTGGGATCTAACCATCGTTTTTGAAATGGTGCTGGGAAAACTAGCTAGCCATATGTAGAAAGCTGAAACTGGATCCCTTCCTTACACCTTATACAAAAATCAATTCAAGATGGATTAAAGACTTACATGTTAGACCTAAAACCATAAAAACCCTAGAAGAAAACCTAGGCAATACCATTCAGGACATAGGCATGGGCAAGGACTTCATGTCTAAAACACCAAAAGCAATGACAACGAAAGCCAAAATTGACAAATGGGATCTAATTAAACTAAAGAGCTTCTGCACAGCAAAAGAAACTACCATCAGAGTGAACAGGCAACCTACAGAATGGGAGAAAATTTTTGCAATCTACTCATCTGACAAAGAGCTAATATCCAGAATCTACAATGAACTCAAACAAATTTACAAGAAAAAAACAAACAACCCCATCAACAAGTGGGCGAAGGATATGAACAGACACTTCTCAAAAGAAGACATTTATGCAGCCAACAGACACATGAAAAAATGCTCATCATCACTGGCCATCAGAGAAATGCAAATCAAAACCACAATGAGATACCATCTCACACCAGTTAGAATGGCGACCATTAAAAAGTCAGGAAACAACAGCTGCTGGAGAGGATGTGGAGAAATAAGAACACTTTTACACTGTTGGTGGGACTGTTAACTGGTTCAACCATTGTGGAAGACAGTGTGGAGATTTCTCAGGGATCTAGAACTAGAAATACCATTTGACCCAGCCATCCCATTACTGGGTATATACCCAAAGGATTATAAATCATGCTGCTATAAAGACACATTTACATGTATGTTTATTGCAGCACTATTCACAATAGCAAAGACCTGGAACCAACCCAAATGTCCAACAATGACAGACTGGATTAAGAAAATGTGGCATATATACACCATGGAATACTATGCAGCCATAAAAAATGATGAGTTCATGTCCTTTGTAGGGACACGGATGAAGCTGGAAACCAACATTCTCAGCAAACTATCGCAAGGACAAAAAAACAAACATTACATGTTCTCACTCATAGGTGGGAACTGAACGATGAGAACACTTGGACACAGGAAGGGGGACATCACACTTCGGGGCCTGTTGTGGGGTGGGGAGAGGGGGAAGGGATAGCATTAGGAGATATACCTAATGTAAATGACGAGTTAATGGGTGCAGCACACCAACATGGCACATGTATACATATGTAACAACCCTGCACGTTGTGCACATGTACCCTAGAACTTAAAGTATAATAATAAAAAATAATAAAATAAAGAAAAAAAATCTATAACTACATTTCTTGTAATTTTGTCTTTTGAGAGTATACATATCTTATTTCCTTTCCCAGACCAGAACCTCTTTGAGGGCAGGAGGAACCCGGTTTTCCCTACTTTACACATGACACATAATAACCACTCATTCAATGTAGGTTTACTGGATGGATAAATAGGAATGGGGGGTAGATAGGCGGGAGAGTGAGTAGACAAATGCGAAACAGGAAAAGCTTGCGCCAGGAAAAACAGTGAAGAGCGAAATCTCCAGACCCCCGATTAAATGGTTTAAAGTGAAGCCAAGCAAGAACCTCCAGTCCTCTCTGCGGCAGAGAACAGCAGATGATAGCGGCTCGCCTTCAACTTTGCTCTGAGGACCTCTCGTTAGTATCCCGCGATTGTCCTTCCTAACGCCTGACTGAATCCTGAGGCTAGCCTTCAGCGAACATGTACACCGCCTTGCCCTTCACGTGAAGCCGAGCCTGTGACTACACTTATCCTTCCGTCGCCGGCCTCATTTCTCCTTCCCCTTCTCCGATCTCGCAACCACTGCTAGTAAGGCGCGCGTGCGGGCAGCCCTGGCCGGCAGGGGAGGGAGGGTCCTGCGACCGGAAGCCGGAAACCGGAAGGGGGGCTGTGAGGACGTGTTCCGAGGAAGCCAGAGCCGGAGCCGTGGCCTGCGGGGCCGGCGACATGGATCCCCTGTTCCAGCAAAACGCACAAGTGAGGGCCGGTCGGGGAGCGGGCAGGGGCTAGACGAGGCGAGGCCAGGTGAGCCTGGCTTCTGGGGCTGAGGCCTCGGACGTCAGCCAGGGTAGAGGCCGAGTTTTTCCGCCAGGGCACTGCTGGGGATGCCTCCGAAGTGCTTAATCCTTGGCGGGACTCCCAGGTCAGCCACAGACAGTGGGTTCAGGCTGGGGCCTGGAGACGTGGGGCAGATGACTCCTGGGGTCTGCAAGTTCGTGACTACCTGCTGGGTAGACTGGGTGACGGGAAACTGGCACCTGCAGGTTATAAAACTTTGTCCAGCACTTGTCAACTCGGTGCTCCTGGTTGGTAGACCTCGAGAGGAGACACGGAGTAGGAGACACGGCCCCTGGCCGTAGGAGTGTACTGTTTAATTGGAGAGTCAGGGCACGTACGGGAAAGTATTTGTATTCTTATTCGATTTATACTAAAGACCACATTTTTATGGTACAAAGAAATTGCTGTCCACGTAGCATTCACTATTATTACTTGTTAATCGTATCTGGTTACAGGTTATCGCTAAGAAAATCAAATTGTAATTTAGTTTCTCATAACTTAAATTCCTTGGTAGTGTCCTTTATTCGCATCGTCCTGCACTTTCGGAATTGCTGAGATACGTAGTTGAGTATTAATGGGGCCATACTTACCCTATTTTTGGGGGCGGGGGGCAGAATTATGATTTTTACCCTGTTTTGGAGGGACGGAATTTTATGATTTTTATTTTTTATTGTAAAATATACACAACATAAGATTTACTGTTTTAACAATTTTTAAGTGTACAATTCAGTGACATTGAGTACATTCACAACTTACATCACTACGATCCATTTCCAGAACTTTTTCATCATCCCAGTGTGCCTGTTAATCAGTAGCACTTCATTTCTTCCTTCCAGAACACCTAGTAACCTCTGTTTTACTTCTCTCTATGAGTTTACCTATTCTAGATACTTAATATAAGTGGAGTCATACAGAATTTGTCCTTTTGTATCTGGCTTATTTCACTTAATGTTTTCAGGGTTCATCTATATTGTAGCCTGTTACCAGAATTTCATTCTGTTTTATGACGGAATAATATTCCGTTTTATGTGTCTACCACATTTTGTTATCCATTCATCTGTTGATGGACACTTGAGTTGTTTCCACCATTGGGCTGTTGAGAATAATACTGCTATGAACTCTGGTGTAGAAGTATCTGTTTTAGTTTCTCTTCTCAATTTTTTGAGGTATATACCTATCCTATTGAGAACTTTCAAACTTATGCTGTAGTTTTGTTGATTAAAACACTTAAAATCACACTCCCAAGGCCTGGAAATGAAATGCCCTGAAGCATGAGGAATAAGAGGGTGATGATCCTCTTTCTCTTTCATTTTCTAAGTTTATGGGTTTCTTTTATTTTGGCGATGAGGTGTTTCATTTGGACAGGCGAAAATACAGAACCTACTTTGTAATGACAGAATTTTCTTTTACACTGGGGAGCCCTATTCTCACATAAACGTTATAGGAAGGGACTTAAAACTAGTCTGTGAGTAATTTAGAGAAAGAATGAAACGAAATTATGTTCATGTTACTAAGAAAGGGCCTATCTTTCACAATAGCAGGGCACAATGGGCATAGTAGTGCCTTGAAGTTAATCTGTTATGTATGGTCTTATCTAGTTAATTTAGTTAAAGGATGTTGCCAAGAAGGCCATGACCCATTTTATATTCAAGAATAACTTTATTTAGAGAGTCTTAGACTACCTGTTTTCAGTGCAGCTAATCACAGAGAAAACTGCATGGCTCAGAAGAGGAATTCTAAATGGTACCCCAAACAAGGTGTGTGGAGTGTAGATGCTCTGTAGGCCTCCAACAATGCACCCTTGGACTCTAGCAGCTTGCCAGTTTTTTCTATTAAGGGCCAGATAGTAAATATTTTAGGCTCTGTGGGCTATACGGTCTCTGTAGTTACTACTCTGCTGTTATATTGGGAAAACAGCCATAGACAATATGTAAACTAATTGATGTACCTGTGTT | pathogenic | 277,688 |
Is the genetic mutation found on chromosome 17 at position 46929597, within the gene GOSR2, considered benign or pathogenic? If pathogenic, specify the associated disease(s). | benign | GCTTGAGTTTATTTTTATGTGTTACCTGAGGTGGCCTTTTTCTGTACGGGTAACAAACCGGAGCTGTTGGCATTTATTGTAGTCCCTTCTTTCAAAAGCTCCCAAATAACGTGGGGCTGTGTCTAGGCTGTTTCTTTCCTCTTGGGCCAGCTGTAGGGTTTGCCTTTCCTTGTCTGTCTGCACCTGCACTGCCGCCATATTGTTTCCATTGTTACTGCTTTGTAAGTCATAATGGCAGGTGGGACAAGTCATTCCTCCCCCTCCTTCTTCAGAGTGGTCTTGGCTATTCTTTACCTCCCCCCTTTTTATTATGTCACTGTTCGTGTTGATCATATTACCAACTTTCAGATTTTTCTGTTAAATCAGCATTGAAAATTTACCTCACAGCCTGCGTCAGGACTTCCTTAGAGTCCTAATTCTCCTTTCTGTCCCCGTTACCCTCCGGTCCCCTGTACCTGTTCCCTTGGTTGCCCTGCTTCAGGTGTCGGCTACCTCAGGCTGCATTCCTACATCAGCCCCCATACCTCCACACCCCCGCATCATCCCACAATATCCCAGACTTACTTTCCGGAAGCAACGGCCTGGTCTCGGACTCTAGCAGTGATTTCTAGTTGCTTCTCAGGGCCACAGGTCTTGCCTAGGAGCACCCTGGGGAGTCATTTGACAGCTCACCCAGCTTCTTTTGGTGCCCGAGGGCATATCTGGAGGCCATAGGGAAGCCCTGGAAAAGACTGGGCACAAGCTGAAGCCAAAGTTGGGTGCCTGGCTGGCATTGGTAGATTTGGGGTCCTGGTTTGCATTGCTCACGATGCAGAATGGTTGCTGACCTTTCCTCCAGCGTTGGGGATGATGTGAGAGTCCAGCAGGCCCCCTTCATGTGGGCCCTAACTTGGGGAAATCTCCACCGTGAGCACCGGGAAGTGGATGGTGGGGCCAGCATAAGCAGTATCCCGAGGACTGATCATGGAGGACCATTAGGAAGGGGGTCTTAAGGATGACCTTGGCCAGACCGTGGGAAGCCTCCAGAGAGTGTTACCCAGATCCAGGGTACAGTGTTGCATTTCCAAATGAGATGGCAGTTCCTTCGTTCCTTGATATTGTCGGAGAAGGATGTTTACCAAACAGAAGGTCCCTGTCTCAGGGTCTTCCTCTGAATGGTTTCCTCCAGTGAGTCACTTCAGCATCCTCTCCCCCAACCCGATTCCCTTTCAAGCAGCCCACCCTACTTGTAATCCACATGTCTTGAATGAATTTTTGCATATCATTTTCTTCTATCTTCCTTCACCAAATGATGTCTCCCTTCTTCACAGCGATGCTCAGAACTCTTTCCATCCACATAACTTACCTGGTTTCTCTTTCTCAGCCCCACCCCTCTGTCTGCTTGCCTGTGACACCACTGTGCAGAGCTGCCCCTCTTTCTGTTTGTTTATACTTATGTGTATTGCTTTTCTCGTGAATCTTCCCAGGGCTTGTTCATGTCTGTTTAGCCTGTCATTCCTCATTATGTTGTTTCTCAAGGACAAGGATTATATCTCCCTCGCCCTTTGACTCTTCCTGGTACAGGCCAGTGCTTAGCACATTAGGTCGTAGAACAGAAAGTAGGATTGGCCGGGTTCAGTTTGAGGTTTATCACTTGCTGTGTGATCTTGAACAAGTTACATAACCTTTCTGGGCTTCAGTTTTTATAAAATGAGGATGATAATGGTACTTTCCTCATAGGGTTATTGATTTGGCAGAGTATCTTGGATATGGTAAGCACCCATAATCTGCCTATCAGTGTTATTGTTAGTAGTTAAGATATTAGAAACCATGCCAAAACGTGGGACCTAAAGTGCCACATACAAATTTTACAGTTCAGTGATGCTGTCGATTTAAATCAGTTACATGTTGGCATCAGAAAAATTGTCTTTCCTGACTGAAGCGCTGTTGATTACTCCTGTCTCACTCATTTCCTCCCTCTTCCTTTGATAGGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACAGTGAGTAATTAACTGTGGAGACCAGAGTCCTTTCTCTGATGACAGGGTGCTAATGGGCTGGGCTTCCTGACTGCACTCTGCCTTGGGGGCTTAATGATTCAGCGTGGAATGAGTTTTGTTGTTAGGGTGGACAGAAAAACCCTATGGCAAAGTCACTGATTTCCCTGAGTGTGCCCTTTGGAATCCCACAAGTCTTATCCCCCATTACCCCTCCACTCAACCTGACATGGCCCTATGGGAATGGAAGCGCTTGCCTCCATCTATCTTAATCTAATTACCTAGTCCTTAGAGGAATGTACTCCATAAAAATTCAGAGATGTTTAACTGGAATTGGCCATTTCTTCTGAGCTGAGAACTGTGGCTTTTTAGGAGGATTATTCAGAAACGAACAGCAATATTAATTAGTTTAGTTCCCACAGCATGGTTTCTTTTGAGAAGCATGCTGGTTTTTTGTTTTTTTTCATTTTTTTTTTTTTTTTCTATTCTGAGGAAAGGTCCTTTTTCTGAGTTGGTCATATGGACACCACCTGCGGGGGCTGCCTACCCACCCCACTGCTGGGCTCCCTCAGGACCCATTCCTCCTGTTCTCTCATGTCTCCTTTCGCAGCTTCAAAAGCAGCTCTGTTCTTGGTTCTGTGCCCCACCTTGTTCTAATCTCAACTGTCTTTGTTCACTGTGGGCACAAAGGGCTAGGAAGGGGCAGTGTCACTGCTGTCACTTCTTTATGGGGCAAGAAGCAGTCTGGATGCTTTCTTTTGTGCACAGTTTAGCTTCTTTGTTCATCGGACTTTGTTTGCCTTCTCAGCAATCTCATTGTTACATGATTAGAAATGGAAAGAGGTCATTTTGACTGTCTTATCGAAAGGGATAGGGAAAATGACCGTATTTATCGTATCTCTTTACCTCTGTGGATTCTTTCCTGGGCCTTTCCTATTGATATTTGGTTTATTTTGGGGACGTCAACATTGCTCAGCCCACCCATTCTTACAGAAAGCTTTAAGGGAAGAAAGCCTTAAGGGAACTCTTCTCTGTATGTTTCACATACTAATCTTCCCCTTCCTTTATGCTTTTTTTTTTTTAAATAAAAAAAAAAAAACTCATTACTATAGGGAATTCAATTGGCAGCCTTTTTCTAGGTATTTATAATCCACGTCTGAGAATCCCAAAGGAAAAGAGACCTATATCAGAAAATTTAGCTTAAAGTATTTATTTGGACAACCTTTGCATGTTTATTTTCTAAAGGTAGGAAATTTATTTCTACAGATTTACCTTCAGCTTTTTTAAAAAATTGGCATTGTTATGTCATTAACAGCTATATACATGTACTTTTTTCAAAACAACATTTACGGCCTAACTTGAATTTTTTCTGTTATTCATTAGTGTATACATTTTTCTCCTTTTGAAATATGTAGTTCTAGTTTATTGGATATTGAAAAAAAAATCTGTGATTTATCATTGTAATTTAAGTTCACTATCTCTTTTCCAGCAATTATTCTTTTTTCTTTTTTGTACAGTAGTAGAAAACGAAATCCAAGCAAGCATAGACCAGATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCAGACTGTAAGTGCTGACCTCTGACATGGCTCTGATACTCCAGGCCCATCAAGACAGGCTTTTCTCCCTGGGGGAGGTGATAGAATATTCTGAAAACCAACGTACATGTTGAAAAACTATGACTATGCAAAGAAAAAGCCCCCTCAAAGGGCACAATTCTATCTGAGTGATGCCGCTCAAAATAAATAGCCTGTGAGGTTTGTGACTCAGAAACCTTGTGACCCCTTACCTCTTTGGTGTCATTTTGAAATTTTGCCTCCAGTTCTGTTTTTTGACTAGATCCATAGCCACCTGAAGCCTAATGTTGCCATGGAGTTTTGTTCTGCTCTTTGGTTCCTGCTGGGTTCTTCTTGGGTTGAAATGAAAAATCACTTCAATCAGTCCACCCATAATGAAATGCTGATCTAATGTTTGATACTCCAGCATGAAATTAAAATGAAACC | GCTTGAGTTTATTTTTATGTGTTACCTGAGGTGGCCTTTTTCTGTACGGGTAACAAACCGGAGCTGTTGGCATTTATTGTAGTCCCTTCTTTCAAAAGCTCCCAAATAACGTGGGGCTGTGTCTAGGCTGTTTCTTTCCTCTTGGGCCAGCTGTAGGGTTTGCCTTTCCTTGTCTGTCTGCACCTGCACTGCCGCCATATTGTTTCCATTGTTACTGCTTTGTAAGTCATAATGGCAGGTGGGACAAGTCATTCCTCCCCCTCCTTCTTCAGAGTGGTCTTGGCTATTCTTTACCTCCCCCCTTTTTATTATGTCACTGTTCGTGTTGATCATATTACCAACTTTCAGATTTTTCTGTTAAATCAGCATTGAAAATTTACCTCACAGCCTGCGTCAGGACTTCCTTAGAGTCCTAATTCTCCTTTCTGTCCCCGTTACCCTCCGGTCCCCTGTACCTGTTCCCTTGGTTGCCCTGCTTCAGGTGTCGGCTACCTCAGGCTGCATTCCTACATCAGCCCCCATACCTCCACACCCCCGCATCATCCCACAATATCCCAGACTTACTTTCCGGAAGCAACGGCCTGGTCTCGGACTCTAGCAGTGATTTCTAGTTGCTTCTCAGGGCCACAGGTCTTGCCTAGGAGCACCCTGGGGAGTCATTTGACAGCTCACCCAGCTTCTTTTGGTGCCCGAGGGCATATCTGGAGGCCATAGGGAAGCCCTGGAAAAGACTGGGCACAAGCTGAAGCCAAAGTTGGGTGCCTGGCTGGCATTGGTAGATTTGGGGTCCTGGTTTGCATTGCTCACGATGCAGAATGGTTGCTGACCTTTCCTCCAGCGTTGGGGATGATGTGAGAGTCCAGCAGGCCCCCTTCATGTGGGCCCTAACTTGGGGAAATCTCCACCGTGAGCACCGGGAAGTGGATGGTGGGGCCAGCATAAGCAGTATCCCGAGGACTGATCATGGAGGACCATTAGGAAGGGGGTCTTAAGGATGACCTTGGCCAGACCGTGGGAAGCCTCCAGAGAGTGTTACCCAGATCCAGGGTACAGTGTTGCATTTCCAAATGAGATGGCAGTTCCTTCGTTCCTTGATATTGTCGGAGAAGGATGTTTACCAAACAGAAGGTCCCTGTCTCAGGGTCTTCCTCTGAATGGTTTCCTCCAGTGAGTCACTTCAGCATCCTCTCCCCCAACCCGATTCCCTTTCAAGCAGCCCACCCTACTTGTAATCCACATGTCTTGAATGAATTTTTGCATATCATTTTCTTCTATCTTCCTTCACCAAATGATGTCTCCCTTCTTCACAGCGATGCTCAGAACTCTTTCCATCCACATAACTTACCTGGTTTCTCTTTCTCAGCCCCACCCCTCTGTCTGCTTGCCTGTGACACCACTGTGCAGAGCTGCCCCTCTTTCTGTTTGTTTATACTTATGTGTATTGCTTTTCTCGTGAATCTTCCCAGGGCTTGTTCATGTCTGTTTAGCCTGTCATTCCTCATTATGTTGTTTCTCAAGGACAAGGATTATATCTCCCTCGCCCTTTGACTCTTCCTGGTACAGGCCAGTGCTTAGCACATTAGGTCGTAGAACAGAAAGTAGGATTGGCCGGGTTCAGTTTGAGGTTTATCACTTGCTGTGTGATCTTGAACAAGTTACATAACCTTTCTGGGCTTCAGTTTTTATAAAATGAGGATGATAATGGTACTTTCCTCATAGGGTTATTGATTTGGCAGAGTATCTTGGATATGGTAAGCACCCATAATCTGCCTATCAGTGTTATTGTTAGTAGTTAAGATATTAGAAACCATGCCAAAACGTGGGACCTAAAGTGCCACATACAAATTTTACAGTTCAGTGATGCTGTCGATTTAAATCAGTTACATGTTGGCATCAGAAAAATTGTCTTTCCTGACTGAAGCGCTGTTGATTACTCCTGTCTCACTCATTTCCTCCCTCTTCCTTTGATAGGCAGGTCCACGAGATCCAGTCTTGCATGGGACGCCTGGAGACGGCAGACAAGCAGTCTGTGCACAGTGAGTAATTAACTGGAGACCAGAGTCCTTTCTCTGATGACAGGGTGCTAATGGGCTGGGCTTCCTGACTGCACTCTGCCTTGGGGGCTTAATGATTCAGCGTGGAATGAGTTTTGTTGTTAGGGTGGACAGAAAAACCCTATGGCAAAGTCACTGATTTCCCTGAGTGTGCCCTTTGGAATCCCACAAGTCTTATCCCCCATTACCCCTCCACTCAACCTGACATGGCCCTATGGGAATGGAAGCGCTTGCCTCCATCTATCTTAATCTAATTACCTAGTCCTTAGAGGAATGTACTCCATAAAAATTCAGAGATGTTTAACTGGAATTGGCCATTTCTTCTGAGCTGAGAACTGTGGCTTTTTAGGAGGATTATTCAGAAACGAACAGCAATATTAATTAGTTTAGTTCCCACAGCATGGTTTCTTTTGAGAAGCATGCTGGTTTTTTGTTTTTTTTCATTTTTTTTTTTTTTTTCTATTCTGAGGAAAGGTCCTTTTTCTGAGTTGGTCATATGGACACCACCTGCGGGGGCTGCCTACCCACCCCACTGCTGGGCTCCCTCAGGACCCATTCCTCCTGTTCTCTCATGTCTCCTTTCGCAGCTTCAAAAGCAGCTCTGTTCTTGGTTCTGTGCCCCACCTTGTTCTAATCTCAACTGTCTTTGTTCACTGTGGGCACAAAGGGCTAGGAAGGGGCAGTGTCACTGCTGTCACTTCTTTATGGGGCAAGAAGCAGTCTGGATGCTTTCTTTTGTGCACAGTTTAGCTTCTTTGTTCATCGGACTTTGTTTGCCTTCTCAGCAATCTCATTGTTACATGATTAGAAATGGAAAGAGGTCATTTTGACTGTCTTATCGAAAGGGATAGGGAAAATGACCGTATTTATCGTATCTCTTTACCTCTGTGGATTCTTTCCTGGGCCTTTCCTATTGATATTTGGTTTATTTTGGGGACGTCAACATTGCTCAGCCCACCCATTCTTACAGAAAGCTTTAAGGGAAGAAAGCCTTAAGGGAACTCTTCTCTGTATGTTTCACATACTAATCTTCCCCTTCCTTTATGCTTTTTTTTTTTTAAATAAAAAAAAAAAAACTCATTACTATAGGGAATTCAATTGGCAGCCTTTTTCTAGGTATTTATAATCCACGTCTGAGAATCCCAAAGGAAAAGAGACCTATATCAGAAAATTTAGCTTAAAGTATTTATTTGGACAACCTTTGCATGTTTATTTTCTAAAGGTAGGAAATTTATTTCTACAGATTTACCTTCAGCTTTTTTAAAAAATTGGCATTGTTATGTCATTAACAGCTATATACATGTACTTTTTTCAAAACAACATTTACGGCCTAACTTGAATTTTTTCTGTTATTCATTAGTGTATACATTTTTCTCCTTTTGAAATATGTAGTTCTAGTTTATTGGATATTGAAAAAAAAATCTGTGATTTATCATTGTAATTTAAGTTCACTATCTCTTTTCCAGCAATTATTCTTTTTTCTTTTTTGTACAGTAGTAGAAAACGAAATCCAAGCAAGCATAGACCAGATATTCAGCCGTCTAGAACGTCTGGAGATTTTGTCCAGCAAGGAGCCCCCTAACAAAAGGCAAAATGCCAGACTGTAAGTGCTGACCTCTGACATGGCTCTGATACTCCAGGCCCATCAAGACAGGCTTTTCTCCCTGGGGGAGGTGATAGAATATTCTGAAAACCAACGTACATGTTGAAAAACTATGACTATGCAAAGAAAAAGCCCCCTCAAAGGGCACAATTCTATCTGAGTGATGCCGCTCAAAATAAATAGCCTGTGAGGTTTGTGACTCAGAAACCTTGTGACCCCTTACCTCTTTGGTGTCATTTTGAAATTTTGCCTCCAGTTCTGTTTTTTGACTAGATCCATAGCCACCTGAAGCCTAATGTTGCCATGGAGTTTTGTTCTGCTCTTTGGTTCCTGCTGGGTTCTTCTTGGGTTGAAATGAAAAATCACTTCAATCAGTCCACCCATAATGAAATGCTGATCTAATGTTTGATACTCCAGCATGAAATTAAAATGAAACCNN | benign | 277,696 |
Does the chromosome 17 mutation at position 46939046 within gene GOSR2 classify as benign or pathogenic? If pathogenic, indicate the related illness(es). | benign | TTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAATAAAATGCCCTTTTGTTTTGGTGGTGGGTGATGCCATCTATAGAAGGGTTTTAGGTCATTGTGTTGGTGTCTTTCCGTCTTTCCCACTTGAGACCCTCTTGTAAATATGGACTTGACCCACCCATTGTACTCAGAAGAAACCTCAAAGATTGTACTCTACAAAGTAAATAGGTTGGTATCAATGATTATTGGAACTAGAGAGCCGAGGACAAGTTTTTTGATGTTGCCTTCTTTTTATAGTATAAAATATTCTAATTTTAAGTATTTTTGTTGAGATATAATTTACAGACAGTAAGGTATACAGATCATATTTTTACAATTCAGTGAATTTGGGCAATTGTATCAGCCTTTGTAACTCACACTCCCATCAAGGCCCGGACCATTTCACCTCTGAAAGATCCCTCGTACCCCTTCCCAGTCAGTTGACCCCTCTGCCCCAGGCAGCCACTGTTGTGATTTATTTCACCATAGATGAGGTTTTCTTGTTATTGAACTTCATATAAAGGTATTCATGCTACTCTTTTCTATGTGGCTTCTTCCTCCCAGTATGTTTCCAAGGTTCATTCATATTGTTACCTATTTAATTCCATGTTGGTAGTCAGGTACTTTTTATTGCAAAGCAGTATTCCATTGGTACAGGTTTACCATAGTTTGTTCATTCATCTTGTGATTAGTGACACCATTGTTTTCAGTATGTATTTATTTATGTATTTTTTGAGACAGGGCCTCCTTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTTACTGCAGCCTCGAACTCCTGGGCTCAAGTGGTTCTGTCACCTTAGCCTCGCAAGTAGCTAGAACCACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTGTAGAGAAGGGGTCTTCACTACGTGCCCAGGCTGATCTCGAAATCCTGGCCTCAAGTAATCCTCCCACCCACCCCTCCCAGAGTGCTGGGATTACAGGGATGAGTCCCTGCGCCTGGCCTGTTTGCAGTTTTTAGATATTCTCCTGTGTTTTTTTCTAGAAGCTTTAATTGTGGCTTTAGCTTTTATGTTTAATTCTATGAACCATCTCAAATTAATTTTTATGTATAATGTGAATTGAGGTTCAATTTTTACACACATATCTGTAAGAGAGATACATATATATAAAATACATACCTGTGATATTATATAGTCAGTCGTTCCAGCACCATTTGTGGAAAAGACTTTTCTTTCCACTTAGCGTTGCTCTGGTACCTTGATCAAAAATCAGTCGACGACATGAGAGTGGCTCTATTTCTGGCTGATATTGCTTTCTGTGTATTCTGGGCATGACCAAGAGAATGTCTGTTGGCAAAGCTCCATCTCCTGATGCCATTCACCCACTCTTGGTAAAGCGACTTGATGTTTGTTTTTTTTTCTGTTCTCTTCTGCCCCAGGGGACTCAGAAGAAGATCCTTGACATTGCCAACATGCTGGGCTTGTCCAACACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGTGGGATGCTGCTGACCTGTGTGGTCATGTTCCTCGTGGTGCAGTACCTGACATGAGCCAGCCACGCTCAGTGGCTGAACAGCATTCCCACAGCCTGCAAGTGTGTGTGTGTGTGAAAGAGAGAGGGGGGCCCAGAGGCCGCCTTTTGAAATGTTTGCCTGTCTGAACTGTGAAGACACTTGGGAGTGATTGTGGTCTAATTTCCAACCTGCTCTGTTTTCTGTGACATCTTGGAGGGGGAGCTAGTGCCACCACCATGCGCGGTGCTTAGGAAATGAAAGAAGTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGGCTTTGTTCACATAGCTGATGCGTGCCCTGGGAAGGTGTCCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGGCTCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAAGGAAAGAGGCCTTTTCTCACAGCCATTATATTAAATAGTAGGTCGATTCACATCCTCGTGCTCCTGGCCACCCTCCCCTGTGCCTCAGTGACATGTAGATGACTGACTGCCAATACTTGTCACCATTCCCTGGAAGCAGCTACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAATTACAGTCTCAGCTCTAGTTTTAGTATCTCTAATTCTTTGGTTCCCTTCTCTTCCCTGAAATATATTAGCACCTGCCAGCCAGGCCCTCATTTTGCCCAGCCAGTGTGGGCAGATCCCACCGTGGAGACATCTGTAGTGTGTATGTCCTTGTAACACTCTGTTTTCAGGGACTACAACCTTTTTCCTTCTGTGACCAGCCCCGGATTCAGGCTGTACTAATACCAGGTATATTGTGGAATTTAGTATAAAGGCCAATCTGTCCTGAAGTCCATCTAATGTGGTGAATCACTGAAAGTCTCAGAAAGACCTGGTTAGTGTATGTTCTCATTTACCACAGGCCTACCAGCCCTGGGCACAGCAGCTTCATGGCAAGACATAAAATGACACTCAAAATCCTTCAGATCTGGAAACCGGCTCAGTATTAACCCTACCTTTGGTTGTCCTGCCCTACCTGCTCTGTTAGTTTCTTGTTGCTTGAACTGTCTTCTGTCTTATTTCCCTTCCTTTCTGTGTTCCTCTTCACCTCTCTTGTTCCCCTCCCCGCTGCTCTGTAGTCATGTTGGTCCTTTCAGGCACCTCTGTGGCATAGCTCCCCTTTGGTAAGTTTTCTTAATTGTCATAGATTAACTGAGTTTCCTGGATGCTAATTTCACACTTTCGGTTGGAGGAGATCTCCATTGTTCCTACCCCTCCGGGCCAAATGGGCCCCAGGTTTCCAAGGAAGGAGCAATCTGTGACTCCTAAAATGGGTTGGGGCCCTGCCAGAGTTAAAGCAGTGACTGGAGGGTGGACTGGGGGGTTGCAGCATCTTTAGACCTAGATCTGTCTAACTCTGGGGAGGCACATTGACATTTCCATTACACACAGCACTGCTGCGGTGCCAGGGACCTAGCGCAGGACTTTTGGTAATCCATAAAATGGATTCTGAGACTGCGACGGCAAGGCTGTCCTGTCCCCCAGGCACCCAAGGATCCTGCCAGACAGCACACTTTGGAGGAAGGTCTGCAGGGAGCAGCTGAGCCATTTGTTCTTGAACTCTGGGAGGCAGAAGTCCCCGCACCCATCATGCGTGGACTGATAGGACATCTTTTCGTGGTGTGCACCAGTGCTTTCCACACTTGACAGTGGTTGGCTTTGATGAACCCTCATGCTGCACCTTCAGAGCCAGTCCTCTAGTTTGGAATAAAAATTGCAGAGGTGGTTTTTGGGTCTTTACCACCTGCGGCTGGTGGACAGCAGCCAGTGTGTCTGGACACCCAGGGGCATTGAGACTGCATGTTGTCACATGACCACTTCTCTTCACACATCTGCTTTCAGTGCCTGGTGAAAAATAGACCTTGGCCTAACAGTGTGACTCTCTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGTTTGGTGTGC | TTAGATGCCATGCATATAAGTTGCAGTGGGTGATATGTGCTGAGTGACTTGGGGTCTGCCCCGGCATTCACTTATACTTGTTTCTTACTAAGAAATTGAATGTGCTTTAAGCTGAAAATTAGAAAGCAGTAGGGAAGGACAGGCTGGATGGTTTGGGTTGTTGGTTTAGGAATAAAATGCCCTTTTGTTTTGGTGGTGGGTGATGCCATCTATAGAAGGGTTTTAGGTCATTGTGTTGGTGTCTTTCCGTCTTTCCCACTTGAGACCCTCTTGTAAATATGGACTTGACCCACCCATTGTACTCAGAAGAAACCTCAAAGATTGTACTCTACAAAGTAAATAGGTTGGTATCAATGATTATTGGAACTAGAGAGCCGAGGACAAGTTTTTTGATGTTGCCTTCTTTTTATAGTATAAAATATTCTAATTTTAAGTATTTTTGTTGAGATATAATTTACAGACAGTAAGGTATACAGATCATATTTTTACAATTCAGTGAATTTGGGCAATTGTATCAGCCTTTGTAACTCACACTCCCATCAAGGCCCGGACCATTTCACCTCTGAAAGATCCCTCGTACCCCTTCCCAGTCAGTTGACCCCTCTGCCCCAGGCAGCCACTGTTGTGATTTATTTCACCATAGATGAGGTTTTCTTGTTATTGAACTTCATATAAAGGTATTCATGCTACTCTTTTCTATGTGGCTTCTTCCTCCCAGTATGTTTCCAAGGTTCATTCATATTGTTACCTATTTAATTCCATGTTGGTAGTCAGGTACTTTTTATTGCAAAGCAGTATTCCATTGGTACAGGTTTACCATAGTTTGTTCATTCATCTTGTGATTAGTGACACCATTGTTTTCAGTATGTATTTATTTATGTATTTTTTGAGACAGGGCCTCCTTCTGCCACCCAGGCTGGAGTGCAGTGGTGTGATCTTGGCTTACTGCAGCCTCGAACTCCTGGGCTCAAGTGGTTCTGTCACCTTAGCCTCGCAAGTAGCTAGAACCACAGGTGCACACCACCACACCTGGCTAATTTTTTTTTGTAGAGAAGGGGTCTTCACTACGTGCCCAGGCTGATCTCGAAATCCTGGCCTCAAGTAATCCTCCCACCCACCCCTCCCAGAGTGCTGGGATTACAGGGATGAGTCCCTGCGCCTGGCCTGTTTGCAGTTTTTAGATATTCTCCTGTGTTTTTTTCTAGAAGCTTTAATTGTGGCTTTAGCTTTTATGTTTAATTCTATGAACCATCTCAAATTAATTTTTATGTATAATGTGAATTGAGGTTCAATTTTTACACACATATCTGTAAGAGAGATACATATATATAAAATACATACCTGTGATATTATATAGTCAGTCGTTCCAGCACCATTTGTGGAAAAGACTTTTCTTTCCACTTAGCGTTGCTCTGGTACCTTGATCAAAAATCAGTCGACGACATGAGAGTGGCTCTATTTCTGGCTGATATTGCTTTCTGTGTATTCTGGGCATGACCAAGAGAATGTCTGTTGGCAAAGCTCCATCTCCTGATGCCATTCACCCACTCTTGGTAAAGCGACTTGATGTTTGTTTTTTTTTCTGTTCTCTTCTGCCCCAGGGGACTCAGAAGAAGATCCTTGACATTGCCAACATGCTGGGCTTGTCCAACACAGTGATGCGGCTCATCGAGAAGCGGGCTTTCCAGGACAAGTACTTTATGATAGGTGGGATGCTGCTGACCTGTGTGGTCATGTTCCTCGTGGTGCAGTACCTGACATGAGCCAGCCACGCTCAGTGGCTGAACAGCATTCCCACAGCCTGCAAGTGTGTGTGTGTGTGAAAGAGAGAGGGGGGCCCAGAGGCCGCCTTTTGAAATGTTTGCCTGTCTGAACTGTGAAGACACTTGGGAGTGATTGTGGTCTAATTTCCAACCTGCTCTGTTTTCTGTGACATCTTGGAGGGGGAGCTAGTGCCACCACCATGCGCGGTGCTTAGGAAATGAAAGAAGTCCCGGGTCTGTCTCTCTCACTCTCGCTCTCACTGGGGGAGGGAAAGAATGGCTTTGGTGGCTTTGTTGGCTTTGTTCACATAGCTGATGCGTGCCCTGGGAAGGTGTCCACAGTGAGCCCTGTGTGCAGGACTGTCCACACGGTTCACACCTTGTCACCATCAGGCCTTTCTGGCTCCTGATAGGGTGGAGCAAAAGTGGAAAGGAAAGGAAAGAGGCCTTTTCTCACAGCCATTATATTAAATAGTAGGTCGATTCACATCCTCGTGCTCCTGGCCACCCTCCCCTGTGCCTCAGTGACATGTAGATGACTGACTGCCAATACTTGTCACCATTCCCTGGAAGCAGCTACCTAGGGGAAACAAGATGTAGTGCTATTGCCGATAACAAGTAAGATTTTCCACACTACAGCTGGGTGTTTCTCTTTTCTAAAGTGAGGCCAGTGTTATTTCCCGGGAGTGTTCAGTCTTGACCCTAGTCACTGATTTTTTCTAGTTGTTAATAGAGTGGTTGGCTTTTAAGGTTCAGAGACTGTGGCTTGGCACCTGCGCCCAGGCTTTGTGGGCCTTTGCCCCTTAGAAAGTAGCTGTAGGCAAAGATTTGTGATTTTCCAATTACAGTCTCAGCTCTAGTTTTAGTATCTCTAATTCTTTGGTTCCCTTCTCTTCCCTGAAATATATTAGCACCTGCCAGCCAGGCCCTCATTTTGCCCAGCCAGTGTGGGCAGATCCCACCGTGGAGACATCTGTAGTGTGTATGTCCTTGTAACACTCTGTTTTCAGGGACTACAACCTTTTTCCTTCTGTGACCAGCCCCGGATTCAGGCTGTACTAATACCAGGTATATTGTGGAATTTAGTATAAAGGCCAATCTGTCCTGAAGTCCATCTAATGTGGTGAATCACTGAAAGTCTCAGAAAGACCTGGTTAGTGTATGTTCTCATTTACCACAGGCCTACCAGCCCTGGGCACAGCAGCTTCATGGCAAGACATAAAATGACACTCAAAATCCTTCAGATCTGGAAACCGGCTCAGTATTAACCCTACCTTTGGTTGTCCTGCCCTACCTGCTCTGTTAGTTTCTTGTTGCTTGAACTGTCTTCTGTCTTATTTCCCTTCCTTTCTGTGTTCCTCTTCACCTCTCTTGTTCCCCTCCCCGCTGCTCTGTAGTCATGTTGGTCCTTTCAGGCACCTCTGTGGCATAGCTCCCCTTTGGTAAGTTTTCTTAATTGTCATAGATTAACTGAGTTTCCTGGATGCTAATTTCACACTTTCGGTTGGAGGAGATCTCCATTGTTCCTACCCCTCCGGGCCAAATGGGCCCCAGGTTTCCAAGGAAGGAGCAATCTGTGACTCCTAAAATGGGTTGGGGCCCTGCCAGAGTTAAAGCAGTGACTGGAGGGTGGACTGGGGGGTTGCAGCATCTTTAGACCTAGATCTGTCTAACTCTGGGGAGGCACATTGACATTTCCATTACACACAGCACTGCTGCGGTGCCAGGGACCTAGCGCAGGACTTTTGGTAATCCATAAAATGGATTCTGAGACTGCGACGGCAAGGCTGTCCTGTCCCCCAGGCACCCAAGGATCCTGCCAGACAGCACACTTTGGAGGAAGGTCTGCAGGGAGCAGCTGAGCCATTTGTTCTTGAACTCTGGGAGGCAGAAGTCCCCGCACCCATCATGCGTGGACTGATAGGACATCTTTTCGTGGTGTGCACCAGTGCTTTCCACACTTGACAGTGGTTGGCTTTGATGAACCCTCATGCTGCACCTTCAGAGCCAGTCCTCTAGTTTGGAATAAAAATTGCAGAGGTGGTTTTTGGGTCTTTACCACCTGCGGCTGGTGGACAGCAGCCAGTGTGTCTGGACACCCAGGGGCATTGAGACTGCATGTTGTCACATGACCACTTCTCTTCACACATCTGCTTTCAGTGCCTGGTGAAAAATAGACCTTGGCCTAACAGTGTGACTCTCTCCACCGCCTCAGTGTAGGGAAGGGTCCAGGCCAGGGAAGGAGCACCCTCTAGTGGAGGCGGGGGTGAATTCTTAGGTCGAGCTGATGCAAGAAACTCCGGTAGCCAGCCTCTGTGACCTTGTACATGAGT | benign | 277,717 |
Is the variant located on chromosome 17 at position 47253911, gene ITGB3 (integrin subunit beta 3), benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | ATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGTGAATGGACTAGCTCCTTTGCCTTCCCTGGGGCTGGGAGTGCAGGATGGACTCACTTGCACAATTATGTCATGTTTGCTAGGGCTTGGGCTAGGGTTGTGGACTTAGCATACTTGCTGAGGCCAGTGCCCACCCCAAGTGGTTGCTGACAGCAGGGATAGGCTAAGGAGACACCTAAGTGGCTGGAGATTGGTTTTATATATATGGGAATGGAGCAGATAACTAAATACTTAGGCAGAGATGTAACCAGGCCATGTGACCTGAACTTTGCTCCAGGGCATTGACACTGCTGTTAAAATGCTTCTGGCCTAGAGGCCCTCTGCAGCCAGGGGAGGTAGATGGAGCTTCAGCCTGAAAACCCAGGTCAGAGGGCCCAAGTACCCTTTGCAGAGCTGGCTTTTCCCCTTGCAAATTGCTAGTGACGCTTCAGCTGATGTGTGTTACTATTAAGGTCCTAGTGTTTGGGAGGGTGGGGCAGGAGGTGGAGGATTGTCAGAAAAAAATTACATGGAAAAAGATGGCATCTGAGATGTTTTGAAAGATAAGTGGAATTTTCCAAGTGGAAAAAGGAAGGAAAATCAGTCAGATAGGAAGGCATGGAGCATTGGGGAATGACAAGTATCTTCTTGGACTAGGGTGGGAGATGGGCTGGAGAGATGGGTCAGGGCCAGTTGTCTGGCATCTTGTGTGTCTCAGAAGAGGGTGGGCACGCTGCGTAGGGAAGCCCAGGGCCACTCTGAAAGCCCTAAAGGGGAACTGATGCCTCTGGCCTTGTTTTTATCACCATCAGGACTACCCATTGAGGCAGGCTGCACTACCAGCTACTTCCTGGTGCCCTCTTGCTCATAGCCATAGTATTTTGCCTCTCTGAGCTTCCAGAGGTTTTAAGTCTGGGGAAGACCCAGGGACTCAAAGAAAGATTGGGGTGGGAGATAAGGGGCCACAGTTTGGGGGAGTCAGGCAGGAGGCCTTTGAGGAAAATAGATAAAGTCCCAAAGCCTGTGAGTGTGAATTTGGAGGCAATATGCTGTGTTCTGAAACGTTTTCAGACACTGGCTAGGTGCAAGCAAGTGTTTGTAGGGCGAGGCTCTTCATGGACCTATCACTGCTTACGCAAGCTTGGGATGTGGTCTTGCCCTCAACAGGTAGGTAGTCTACCGGAAAACCAAACTAAGGCAAGAAAAAAATTAGTGAATAATAAAGGACTGAACCGGTTCAGAGAAGGCATTCAGCAGATGTTTGCCAGTCAAATGAATTAAAGTGTGAATGAATGAAACTCGAGGTAGTGGGTGAATGTGTCCCAAGAATCCAGCGAAACAGGGTCTCCCAGGAGGCGGGACTGGAAGGGTCCGGAGAGGGGCCACAGGCTCCTGGCCTTTCTAAGCACACCAAGTGCCCAGTCGCGGACCCCCGGGACCAGGATGCGCTGACGACCCGGCTGGCAGGCGGGTCCTCGTGGGCGAGGCGAGGGAGGCGGCGAGAGAGGAGCAATAGTTTCCCACCGCTCCCTCTCAGGCGCAGGGTCTAGAGAAGCGCGAGGGGATCTAGAGAAGCCGGAGGGGAGGAAGCGCGAGTCCGCGGCCCGCCCCGTTGCGTCCCACCCACCGCGTCCCCTCCCCTCCCCTCCCGCTGCGGGAAAAGCGGCCGCGGGCGGCGGCGCCCACTGTGGGGCGGGCGGAGCGCCGCGGGAGGCGGACGAGATGCGAGCGCGGCCGCGGCCCCGGCCGCTCTGGGCGACTGTGCTGGCGCTGGGGGCGCTGGCGGGCGTTGGCGTAGGAGGTGAGTGAGGCTCCGGCTCGGCAGCGTCGCAGCTGCCCCAGGATCTGCGCCCCGGTCAAGTTGCGGACTTGGAGCCGGCAAACGCGGAGGGCTGGTCCCGCGCGTCTGCGCTGGGAATGCGCGTGTCCTGGCTGGCGCGGTCGGAGCCGGGAGCTGGGGACCTTCCTGGCCCGGCGGTGGCGGGGCTGAGAGGTGCCTGGTGCCTGGGAGCGGGTCCTCCGAGACGCCGAAGCCATCAGCCAGGCTGAGCGCCTTCCCGGCCGCCGCGGCGCGCACGGTGCGGTGGGCGCATCTCTGAGCCCCGCGCTCACCCGGGGCTGCGCGCGTCGCGGGTGGTCCTGGTCGGGCCAAGGACGACTGGCCCAGGAGCCAAGGCGAGGTGGGGCTTCCGGGGGTTGTTCCCGCGCCTTGGCAGAGGGATGCCGCTGTAGCTTCCTGGGTGAGAGCGTGCGCGCGCGCGGGTTTGCCAGTTTCCCCACATTTCCAATTTCTCCTGTTACGCTTTCTCCAGAAGGTTTTTTCTTTTCCTTTTTTCTTTCTTTCTTTCTTTTTTTTACCTTCAACTTGGCTTCCTGCGGGGTTGTTTTGGAGCAGGATGAGGGCTTTGCCTCCTCCAGTGTCCCCAGGTGGCAGCGGTGCCTCTGCTCCCAGGGCAGACCCTGCACCCGAAAAATCTCTAGTGTATTCGGGGAGCCATGAAAAGGCTCCCTTGGGCCGGTGGGATCCTTGGCTTTGTCTCTGGCTGCTGCGCACACCGTCAGCCGTCAGGGCAATTGGCATTCGGCCTCTTTGGTACTGGGGACACAGGTGGAGGGATGGAGCGGGCACAGCCCGGGGTTGCTGCCCGTGGTCCTCTCTGAGTCCTTGGTGATTTTGCCTGGGCTGGAGAGAAACCCTGGCTCCTGGTCTGCTGGGGCCGCCTCTGCCTCAGAGGATGACACAAGAGTGCATGTAAGTATTTTTAATAAAAACTGTAGTACTCGTAAAACAATCTACACCCTGCAGAAGGGATTTGTTATTTTATTTTATTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGTTCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTTAAGCGATTCTTCTGGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGGCCGGCTAATTTTTGTATTTTTAGTAGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTGGAGCTCCTGGCCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGCACCTGGCCAGGATTTATTTTAAAAAGGGAAGATTTGTTGATAAATTCACTTCAAAGATAAACTATTCGAAAATACTTTAGTGATTCCCGTCAAGACTCTTCTGTGTATGTATAGACGTATAACTCATTCTGGACAGGGCAAGGATATCTTTTTTTGTTTGTTTGTTTGTTTTGAGATGGACTCTCGCTGTCGCCAGGCTAGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCACGCCCTACTAATTTTTGTATTTTTAGTAGAGACGGGATTTCCCCATGTTGGCCAGGATGATCTCGATCTCTTGACCCCGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAAGGGTATCTTGAAGGAGGGATTACAGTTGATATGTAGAGGAATATTGCAGTGGTTATTGCTGCATTTCCTATGTGACTGGGACTAAAACAGATCAGCTGATAGTGTTAGCGTGCAGTGAGCAGTCTGATGACTATGACACAGAAATAAGAATCTCCAGCATTCTGCCCTGGGACATGTGGAGCCTTGGGTCAGATGCTGCTGGCTATTGATGCCGGGAATGGAGAAATCCACCAGGGC | ATAATGTTATTTTTAGTTTACAGGTTCTTACAATTTACATAGAATTGTTCAATATTAATTCAACATAGGCTACTGTATGATAAGTTAAGGAGGAATATTGTAATACCTAGAGCAAACACACACACACACACACACACACACACACACACATGCAAACGAGGTGTAGCTAGGAAGCCAGTAGAGAAAAAAAAATTATCCCAAAAGAAAGCAGAAAAAGAGAAACAGAGAAACCAGCCAAAAAGATAGAACGAATAACAAGATAGTAAATGTAAACACAACCATCAATTACTATACTAAATGTGAATGGACTAGCTCCTTTGCCTTCCCTGGGGCTGGGAGTGCAGGATGGACTCACTTGCACAATTATGTCATGTTTGCTAGGGCTTGGGCTAGGGTTGTGGACTTAGCATACTTGCTGAGGCCAGTGCCCACCCCAAGTGGTTGCTGACAGCAGGGATAGGCTAAGGAGACACCTAAGTGGCTGGAGATTGGTTTTATATATATGGGAATGGAGCAGATAACTAAATACTTAGGCAGAGATGTAACCAGGCCATGTGACCTGAACTTTGCTCCAGGGCATTGACACTGCTGTTAAAATGCTTCTGGCCTAGAGGCCCTCTGCAGCCAGGGGAGGTAGATGGAGCTTCAGCCTGAAAACCCAGGTCAGAGGGCCCAAGTACCCTTTGCAGAGCTGGCTTTTCCCCTTGCAAATTGCTAGTGACGCTTCAGCTGATGTGTGTTACTATTAAGGTCCTAGTGTTTGGGAGGGTGGGGCAGGAGGTGGAGGATTGTCAGAAAAAAATTACATGGAAAAAGATGGCATCTGAGATGTTTTGAAAGATAAGTGGAATTTTCCAAGTGGAAAAAGGAAGGAAAATCAGTCAGATAGGAAGGCATGGAGCATTGGGGAATGACAAGTATCTTCTTGGACTAGGGTGGGAGATGGGCTGGAGAGATGGGTCAGGGCCAGTTGTCTGGCATCTTGTGTGTCTCAGAAGAGGGTGGGCACGCTGCGTAGGGAAGCCCAGGGCCACTCTGAAAGCCCTAAAGGGGAACTGATGCCTCTGGCCTTGTTTTTATCACCATCAGGACTACCCATTGAGGCAGGCTGCACTACCAGCTACTTCCTGGTGCCCTCTTGCTCATAGCCATAGTATTTTGCCTCTCTGAGCTTCCAGAGGTTTTAAGTCTGGGGAAGACCCAGGGACTCAAAGAAAGATTGGGGTGGGAGATAAGGGGCCACAGTTTGGGGGAGTCAGGCAGGAGGCCTTTGAGGAAAATAGATAAAGTCCCAAAGCCTGTGAGTGTGAATTTGGAGGCAATATGCTGTGTTCTGAAACGTTTTCAGACACTGGCTAGGTGCAAGCAAGTGTTTGTAGGGCGAGGCTCTTCATGGACCTATCACTGCTTACGCAAGCTTGGGATGTGGTCTTGCCCTCAACAGGTAGGTAGTCTACCGGAAAACCAAACTAAGGCAAGAAAAAAATTAGTGAATAATAAAGGACTGAACCGGTTCAGAGAAGGCATTCAGCAGATGTTTGCCAGTCAAATGAATTAAAGTGTGAATGAATGAAACTCGAGGTAGTGGGTGAATGTGTCCCAAGAATCCAGCGAAACAGGGTCTCCCAGGAGGCGGGACTGGAAGGGTCCGGAGAGGGGCCACAGGCTCCTGGCCTTTCTAAGCACACCAAGTGCCCAGTCGCGGACCCCCGGGACCAGGATGCGCTGACGACCCGGCTGGCAGGCGGGTCCTCGTGGGCGAGGCGAGGGAGGCGGCGAGAGAGGAGCAATAGTTTCCCACCGCTCCCTCTCAGGCGCAGGGTCTAGAGAAGCGCGAGGGGATCTAGAGAAGCCGGAGGGGAGGAAGCGCGAGTCCGCGGCCCGCCCCGTTGCGTCCCACCCACCGCGTCCCCTCCCCTCCCCTCCCGCTGCGGGAAAAGCGGCCGCGGGCGGCGGCGCCCACTGTGGGGCGGGCGGAGCGCCGCGGGAGGCGGACGAGATGCGAGCGCGGCCGCGGCCCCGGCCGCTCTGGGCGACTGTGCTGGCGCTGGGGGGCGCTGGCGGGCGTTGGCGTAGGAGGTGAGTGAGGCTCCGGCTCGGCAGCGTCGCAGCTGCCCCAGGATCTGCGCCCCGGTCAAGTTGCGGACTTGGAGCCGGCAAACGCGGAGGGCTGGTCCCGCGCGTCTGCGCTGGGAATGCGCGTGTCCTGGCTGGCGCGGTCGGAGCCGGGAGCTGGGGACCTTCCTGGCCCGGCGGTGGCGGGGCTGAGAGGTGCCTGGTGCCTGGGAGCGGGTCCTCCGAGACGCCGAAGCCATCAGCCAGGCTGAGCGCCTTCCCGGCCGCCGCGGCGCGCACGGTGCGGTGGGCGCATCTCTGAGCCCCGCGCTCACCCGGGGCTGCGCGCGTCGCGGGTGGTCCTGGTCGGGCCAAGGACGACTGGCCCAGGAGCCAAGGCGAGGTGGGGCTTCCGGGGGTTGTTCCCGCGCCTTGGCAGAGGGATGCCGCTGTAGCTTCCTGGGTGAGAGCGTGCGCGCGCGCGGGTTTGCCAGTTTCCCCACATTTCCAATTTCTCCTGTTACGCTTTCTCCAGAAGGTTTTTTCTTTTCCTTTTTTCTTTCTTTCTTTCTTTTTTTTACCTTCAACTTGGCTTCCTGCGGGGTTGTTTTGGAGCAGGATGAGGGCTTTGCCTCCTCCAGTGTCCCCAGGTGGCAGCGGTGCCTCTGCTCCCAGGGCAGACCCTGCACCCGAAAAATCTCTAGTGTATTCGGGGAGCCATGAAAAGGCTCCCTTGGGCCGGTGGGATCCTTGGCTTTGTCTCTGGCTGCTGCGCACACCGTCAGCCGTCAGGGCAATTGGCATTCGGCCTCTTTGGTACTGGGGACACAGGTGGAGGGATGGAGCGGGCACAGCCCGGGGTTGCTGCCCGTGGTCCTCTCTGAGTCCTTGGTGATTTTGCCTGGGCTGGAGAGAAACCCTGGCTCCTGGTCTGCTGGGGCCGCCTCTGCCTCAGAGGATGACACAAGAGTGCATGTAAGTATTTTTAATAAAAACTGTAGTACTCGTAAAACAATCTACACCCTGCAGAAGGGATTTGTTATTTTATTTTATTATTTATTTATTTATTTATTTATTTTTGAGACGGAGTCTTGCTCTGTCGCCCAGGCTGGAGTGCAGTGGTGGGTTCTCGGCTCACTGCAACTTCTGCCTCCTGGGTTTAAGCGATTCTTCTGGCTCAGCCTCCCGAGTAGCTGGGATTACAGGCGCCTGCCACCACGGCCGGCTAATTTTTGTATTTTTAGTAGAGACGCGGTTTCACCATGTTGGCCAGGCTGGTCTGGAGCTCCTGGCCTCAAGTGATCCGCCCACCTCAGCCTCCCAAAGTGCTGGGAATACAGGCGTGAGCCACCGCACCTGGCCAGGATTTATTTTAAAAAGGGAAGATTTGTTGATAAATTCACTTCAAAGATAAACTATTCGAAAATACTTTAGTGATTCCCGTCAAGACTCTTCTGTGTATGTATAGACGTATAACTCATTCTGGACAGGGCAAGGATATCTTTTTTTGTTTGTTTGTTTGTTTTGAGATGGACTCTCGCTGTCGCCAGGCTAGAGTGCAGTGGCGCGATTTCAGCTCACTGCAACCTCCGCTTCCCGGGTTCAAGGGATTCTCCTGCCTCAGCCTCCCGAGTAGCTGGGATTACAGGCACGCACCACCACGCCCTACTAATTTTTGTATTTTTAGTAGAGACGGGATTTCCCCATGTTGGCCAGGATGATCTCGATCTCTTGACCCCGTGATCAGCCTGCCTTGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCGGCCAAGGGTATCTTGAAGGAGGGATTACAGTTGATATGTAGAGGAATATTGCAGTGGTTATTGCTGCATTTCCTATGTGACTGGGACTAAAACAGATCAGCTGATAGTGTTAGCGTGCAGTGAGCAGTCTGATGACTATGACACAGAAATAAGAATCTCCAGCATTCTGCCCTGGGACATGTGGAGCCTTGGGTCAGATGCTGCTGGCTATTGATGCCGGGAATGGAGAAATCCACCAGGG | pathogenic | 277,749 |
Variant in ITGB3 (integrin subunit beta 3), chromosome 17, position 47274429—is this benign or pathogenic? If pathogenic, what disease(s) is linked? | pathogenic; ['Glanzmann_thrombasthenia_2'] | TTGTTCTCATCAAGAATTATTTCCCTTTTTTTTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAG | TTGTTCTCATCAAGAATTATTTCCCTTTTTTTTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGNN | pathogenic | 277,758 |
Determine if the mutation at chromosome 17, position 47274460 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGCCTAGGAATTAGGGGTGCAGTCAGTGAGGAA | TTGAGACAGAGTCTCGCACTATTGCCCAGGGTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGCCTAGGAATTAGGGGTGCAGTCAGTGA | pathogenic | 277,762 |
Chromosome 17, position 47274490, gene ITGB3 (integrin subunit beta 3): Is this mutation clinically benign or pathogenic? If pathogenic, identify the related disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | GTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGCCTAGGAATTAGGGGTGCAGTCAGTGAGGAAATGGGCGCAGCTAGGACCAAAGAAAACAAA | GTTGGAGTGTAATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGCCTAGGAATTAGGGGTGCAGTCAGTGAGGAAATGGGCGCAGCTAGGACCAAAGAAAACAAAN | pathogenic | 277,764 |
Is the genetic mutation found on chromosome 17 at position 47274500, within the gene ITGB3 (integrin subunit beta 3), considered benign or pathogenic? If pathogenic, specify the associated disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGATGAGGTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGCCTAGGAATTAGGGGTGCAGTCAGTGAGGAAATGGGCGCAGCTAGGACCAAAGAAAACAAATGGAAGGAGG | AATGGTGATCATTTCCGTTTTTATGGTTTTCAATAGGTCAACATCTACTCTTACAGTATTGTAAAATATCCTGATTAATAGAAGCCAAATAATAGGTACATACTCTTAGAAAATCAGATAATCCCTAAGCATGGTGGGTCAGCTAGTCAACATTCTGCATTACATTGAAAGGACATTTGTATTTTCTTTGCCTGTTTCCAAATTTTATGTAATCTTTCTTTCTTTCTTTTTTTTTCTTTCTTTCTTTCCTTCTTTCTTTCTTTCTTTCTTTCTTTCGTTCTTTCTTTTCTTTCTTTCTCTCTCCTTCCTTCCTTTCTTTCTTTCCTTTTTTTTCTTTTCTGAGATGGAGTCTCACTGTGTCACCCAGGCTGGAGTGCAGTGGCATGATCTCAGCTAACTGCAACCTCTGCCTCCTTGGTTCAAGTGATTCTCCTGCCTCAGCCTCCTGAGTAGCTGGGATTACAGGAGTGCACCACCACGCCCGGCTAATTTTTGTATTTTTTAGCAGAGATGGAGTTTCACCATGTTGGCCAGGCTGGTCTCAAACTCCTGAACTCAAGTGATCCGCCTGCCTCGTCCTCCCAAAGTGGGGAGATTACAGGCATGAGCCACCACGCCTGGCCATAATTTTTCTTTACAATATTGTGTGTGTGTATACACCCTCATTTTCTGAGTGTGTTTTTGTCCAGGTGTTGGGAAGGAGGGAATTCAGTCACACTGTAATAAAATGAATGGAGACAGCTAAATGAGAAGTTTTGGGGACACTGGGAAAACATCGCAATGGTCAGGCTGATTTCTCCAAAATAGGTTCGCTGGTCTTACCAGCTGGGGTCAAAGAGGTCCCTTTGGAAAACTGCATGAAGGAGCTGTCAGGGTAACTGGGTCATGGAGAGGAACAGATCCCTCACATTCTGCTCCTTATATTGGAAAAAACCTCCTTAAGGCACTGCAGGAAGAAGGGTTCACCTGGCTGGAGCAGGAATGCTGAGCTAGGCAATTAGAGAGGACAGTGGCTTCTGTCTAAGCAGATGCCTGGGTTTGGCTTCCTGGCTGAGCTTCTCAAGGTGATTTTGGTTCTCCTGGTTGTTTCTGCTCCTCCTCGTAGCCTTTGCTCTGTCCTTTGACAGTATGAGGACTGTTCACATTTGAATAGCACCTTATAGTGTACCAAGTGCTTCCCCTTACCTCACTGAATTCTTGTACAAATCCTGAGAGACAGATATTGTCATCCCATAGAGGCTAGTTGAGTTGCCCAAGGTCATGAAGTAGTTAGCAGGAAGAACATTCAGAATTCAAGCACAAACCTTCCAACTCTAAAATTCCATGTTCTTTTAGTGTATATCAGTCAGCCTTTTCTAACATTTCTGCACTTCCTCCTAGAGCATTTTGTGGTTGGATTCCAAGATATATGCATTGAGAAGCTTGAGAAGATTTCAGATTTGCTTTTCTTTTGCCAGTCAGTGGGACACTGCCACCAAAGTCACCTCACCCTCCACGCCCCCACTGTATTTAGGCTATGTGTTAATGTTAGTGCATCTGGGCCTTGGATCCCCTGTGTAGTGGCTGTGAATATCACTAGAATGACTGAAGAGGGGATACATTGCCATTTTTCTGGGCCCCGGAGATATTTTCATTTGCACAATGTAGGTGTCAAACCAGTTGTTAATTAAAGCCTTTCCATCAGTTACGATCTGAGACTTGCGTCCATGGCTCAGCCTTGCCCTGTCACTTGTTACCACTGTGGCCTCATCAGTTGAGAGCGGTGATGAGTTTCTCCTGATTTTCCTCCTCCTCCTTCTTCCTAACCAATAACCTGTATTTGGTAGACGTCTGTGGTATGGTTAGGGTGTGTTTGTGTGCACCTGAGAGCTGTAAACCTGGACATTGGGAAAGTTGGGAAGGATGAGGCAGGCAAGTACCTTCACTGAGCCAAATCTGGTGCTAATGCCTTTGTCTGTCTGTTGCAGGGCCCAACATCTGTACCACGCGAGGTGTGAGCTCCTGCCAGCAGTGCCTGGCTGTGAGCCCCATGTGTGCCTGGTGCTCTGCTGATTTAAGGAGCAGATACCAGACCTTGTTTCTTCTCCAGACTAAGCTGCTTTTGTGCAGAAACAGACCCATGAAGTTATCACCTCCCTCTTGAATACACATGCCCCTTATCCCTTCTAAGCAAAACTTTGATGAATTTTTCCCATTGATGCATGGTGAGGAGCTGTCATGGGGATGTTGCTGGGAATACTAACCCAAGTCTACCATATAGCCCCTGGCCCTTGCCAGTTTGGCTCGACCTCCTGTCCTCTCTGTAACCACTGCTGCCCTTTCTCACACTTTGCTTGCTTTTTTTCCTAAGAAAAACAGTTTATTTTAAATTTTTTGGTAGAGACAGGGTCTCACTATGTTGCCCAGGCTGGTCTTGAACTAGACATAAGAGATCCTCCTACCTTGGCCTCCCAATGTGCTGGGATTTCATGTGTGACCCACCATGCCCAGCCCTTTGCTTGCATTTCTTGGGGTGGAATATCCCAGGGAAGCAGGGCGTCAGGTCTCAAAAGGAGAGGCAGCAAGGGGTATAGGTACGGATGGGGTTGGGAGGGGTTGCTGGCTTACTTCTTTTTCCTAGAGGTTAAAAAAGGCAAATAGAAGAGAAATCTTGTGCTTGTGTGTGGTGATGTTTAGTCAGAAAATCTTTTCTCTTCCCTTCTCTTTGATGATTGGGCCCCGCGGCTTTACATTTTTCTTTCTCTTCTTCTTTCCTTCCTTCCTTCTCACAGGTGTTGAAGAAAGGAGCTGGGCCCACTTGGTGAGGATGGAAGGGGGACAGGAAAGGGTTAGTTGTGTCTAGGCAGAGGGTTTGTTGTGTCTGGGGCCCTAGGGAATGAGTGTGTCTGAGGGAATGGCTATGTTTGTGGCTGGGATGGAAATTTGGAGCTGGCAAGAGCTGATGGGGTGGGGGTGGAAGATGAATGTGGTTGAAGAGATTCGGTGATTATAGAGTCTCAGGCTGAGTCACTGGCCTGGCCAGCAGGTGGTTACCTGAGTTCCTGGCCTGGCTGCGGCTCAGCTACCTGAGGCTTCCTCTGTCCCACAACAAGTCCCAGCCCTCTCCAGTTTTATGACCGCTCCAATCCAGCCCTCAGTCTCTCTGTCTGCTTCTTTTTCAGATCTGCTGAGTTTCCTAAAAAGGCAACCTCCCTGGCCGCCTGGGGGGAGGGGCGGGAGCTGGGAGGCTGTGTTTATCACCGGCCAGGAGGGCTGCCAGAGCAGCAGAGGCCAGCTCCGCACGTTGCTTTGGCCTCTTTGCCGTTCAGCACGGGAACTGCTTCCAGAGGCAGCTGCCCAACATCTGGGCCACATTAACTTCATTTAGCAAATGAAACATTCCCTGGGGCTAGGGAAGGGGTGTAAGGGGGGCATGGATGAGACCTTCTCCCCCACCCCCGCAGGTTCTCCTCCCCTCTGGGCTGAGCGGGCTGCTCAGTGTGATGTAGCCTCCTCCCTCCTTATTCACTATGTCCTCCTTCCTCCCATCGTGATATTACTAAAGCTTCTTTTACCAGGAAGTTGCAATTCTGCAACTGAATGCTGGAAGAAGAGAGAGCTGAATGGGGAGGGGGGCCTTGGGTAGCCGAAAGCCTTCAGGAGCAGAGGAAGGTCAGGACAGAAGCCCTAGTGTCACTCAAAGGGTGCTTCCCCCTTTTCCTCCTTCCCTCCTTTCCAACCCAAAGCAAGAGAAAATGCAGGTATCTCTGGCCCAGAGAATCTGGGGAAAAAGAAAACCTTCTTGGAGGGTCTGTCCTGCTCCCTATCCCCCATTTTTCATCCCTCTTGATCTGTATAGGGACTAGCCATGCAGCTGAGGTGGGCTGGGGCCTGACCAGACAAAGCCCTTAGGTCACATAACCAGATTTCAAAGATGCAAATGTAGAATATTTATGGGTGACTGTTGTGCTCCTTGTCCCCTGGGGCAGGCCTGGGGAGGGCAGAGGGAAAGGTGCAGGGTAGATCAGAGCATGACATAGGACCAGCCTAGGAATTAGGGGTGCAGTCAGTGAGGAAATGGGCGCAGCTAGGACCAAAGAAAACAAATGGAAGGAGG | pathogenic | 277,765 |
Evaluate the clinical significance of the mutation at chromosome 17, position 47283410 in gene ITGB3 (integrin subunit beta 3): benign or pathogenic? What disease(s) does a pathogenic variant suggest? | pathogenic; ['Glanzmann_thrombasthenia'] | CTCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTA | CTCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTANN | pathogenic | 277,773 |
Determine if the mutation at chromosome 17, position 47283411 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTAC | TCATAGACATGCACCCACACAGTGTTGGCTAAATTGGCTGAATGTCAGAGCCGGAAGGGACTGAAAACACTGTGTCATCTAAAGGCCTTGTTGAACAGGTGAGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACN | pathogenic | 277,774 |
Mutation at chromosome 17, position 47283512, within ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | AGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAG | AGGACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAATCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGN | pathogenic | 277,778 |
Variant chromosome 17, position 47283514, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? Disease(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | GACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTG | GACACAAAATGACGTATCTGAGGTCACATGACTAGTCAGTGGCAGGCCTAGGATTGATCTTCTTTCCTGATTTTCAGTGTTCTTTCCAGGGTGGCGTGGTCCCCTTCAATACTCAGGTTTAAGCACCCAGAGCCCCAGGGGGCCGTGGGTTTTTGGAAGGGTACTCAATTTGTTCTTTGTTCAGGGTGAAGGAGGACACTGAAGTGATAGGATGGGCTCTGGTTAGGTGCCTGGCCCATGTTCCCAAGTTTGTGGAGTTTATTCATAATTAGCTTATCCAGGAAGTACTTGTCAAGCATCTCATAGTAATAGCTTACATTTGCTGAGGACTTCCTCTGTGCCAGGTGCTGTCCAATGCATTTTATGTGGATTGTCTTATTTAGCCTGTGTGACATCCCTGTGAGGGAGGTACCATAATTACTATTATTTTAAGTAACTTTTATTGTGGGAAAATATACATAACATAGAATTTACCATCTTAACCATTTTGTTTTGTTTTGTGAGATCAAGTCTTGCTCTGTCACCCAGGCTGGAGTGGAGTGGCACGATCTTGGCTTGCTGCAACCTCCACCTCCCAGGTTTAAGCGATTCTCCTGCCTCCGTCTCCCAAGTAGCTGGGACTACAGGTGCACGCCACCACACCTGGCTAATTTTTGTATTTTCAGTAGAGACGGGGTTTCACTAGGTTGGCCAGGCTGGTATCGAACTCCTGACCTCAGGTGATCTGCCCACCTCAGCCTCCCAAAGTGCTAGGATTACAGGCATAAGCAACTGTGCCTGGCCCATCTTAACCATTTTTAAGCATACAGTTCAGTGGCATGAAGTACATTCATAATGTCATGAAACCCCTCACCACCATCTATCTCCTTAACTCTTTTCATCTTGTAAAACTAAAACTCTGTACCCATCAAAACAGTAATTCTCTATTCCTCCCAGTCCCTGGAAACTACTATTCTACTTTTTGACTCTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGNNNNNNN | pathogenic | 277,779 |
Variant in gene ITGB3 (integrin subunit beta 3), located at chromosome 17 position 47284481: benign or pathogenic? What disease(s) does it cause if pathogenic? | pathogenic; ['Glanzmann_thrombasthenia'] | CTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTA | CTATGATTTTGATTGCTGTTAAGTACTGAAGGAGGGACTGTTATTATGTTCGTGTTACAGCTGAGGAAACTAGGCTTGGAGGAATTAGGTGACTTGCCTTAGTAAGCAGTTGTAAGTGCAATGCTGAGATTTACTCCTGTGCTCTTAGCCCTGACTCTCTCCTGCCTCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAN | pathogenic | 277,787 |
Determine if the mutation at chromosome 17, position 47284647 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | TCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGA | TCCTTACACTGCCTTTCCCTATCACATTTGTGGTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCTACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAN | pathogenic | 277,802 |
Evaluate this variant at chromosome 17, position 47284679, gene ITGB3 (integrin subunit beta 3): benign or pathogenic? If pathogenic, what are the disease connection(s)? | pathogenic; ['Glanzmann_thrombasthenia'] | GTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGT | GTAAGTCCTAGGTCGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTN | pathogenic | 277,803 |
Determine if the mutation at chromosome 17, position 47284692 in gene ITGB3 (integrin subunit beta 3) is benign or pathogenic. If pathogenic, what disease(s) is associated? | pathogenic; ['Glanzmann_thrombasthenia'] | CGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTT | CGGATGCTGGGAAATGAGAGGGGCCAAGACACACACAGTCCCTGACTACATGGATCTCACAGTCTAGCCCGTGTCAAATACAGTAGCTTCCAAACTGTTTTGACTCTGACCTACAGAAAGAAACACACTGTACTGGGTATAGTTATTTATTATATGTGTTATTCTCCACTCTCCTCCAACAATATAAGAATTTCACAAAACAACCCTTTGACTATTTGTACACTTTCATATTTTCTATTCTATTCTATTGTATTTTATTTAACAAAATGATGGTTGACACCTGCTAAATTGATTTTGGGACCCACAAATGTGTGGTATTCCACAGTTAAAAAATGCTGGTCTACCAGGCATCTTACTGTACAGGCTCTCCTTCTAGCTACAACTCCATGAATAGGCCTTCTTGATATCTCAATTTCTCTTTTCTTTTTCCTTTTTTTTTTTTTGGTAGAGACGGGGTCTAGCTATGTTGCCTAGGCTGGTCTTGAACTCTTGGCCTCAAGCAGTCCTCATGCCTTGGCCTCCCAAAGTATCAATTTCCCCTTTCTGTACAACGGTCCTAAGGGATTATCCCAGGAAAGACCACAACAATTTGTTTATGCTCCAATGTACGGGGTAAACTCTTAGCTATTGGGAAGTGGTAGGGCCTGCAGGAGGTAGAGAGTCGCCATAGCTCTGATTGCTGGACTTCTCTTTGGGCTCCTGTCTTACAGGCCCTGCCTCTGGGCTCACCTCGCTGTGACCTGAAGGAGAATCTGCTGAAGGATAACTGTGCCCCAGAATCCATCGAGTTCCCAGTGAGTGAGGCCCGAGTACTAGAGGACAGGCCCCTCAGCGACAAGGGCTCTGGAGACAGCTCCCAGGTCACTCAAGTCAGTCCCCAGAGGATTGCACTCCGGCTCCGGCCAGGTAGGGCTGGGACTCTTTGCGGGGAGAGACCTGAAGCAGGTGGGCATAGAGCACAAGGTGGAGGTCTGAGGAGGAAGTCTTGGGGAAGTAGCTCAGAATGGAAATGGGGTGGGAAGACAAGGATGAGGGGGGAGGTGTGGGCAAGAGAATGGAAGAAAATAAGAGACGTTAGGACTTGAGTCAGAAGATCTGAGGTGAATCTTTACTGTATCATATATTAGCTATTTGACCTTGGACAAGTTACTTAACCCTTCAGACATAGTAGGTGCTCAAAAAATATTTGTTTCTTCTTTACCCAAGTGCCTGTTTTACCTAGCTTAGAGCTTTGTGTTGAGGTGCAAATGAGATATAGAACAAGAAAGCGACTTGTAAGCCCCCCTTTCATGGGGAATTGGGACAGGGGAATGGGGGCAGACACAATAGGTACACAAGACCTTTAGAGGGAGGAAGGGTTAGACTAAAGACAGAAATTTTGAAGCATTGATTTTGACTTTCCAACTAAGTCAAGAAGGATTTACCTACTATCAAGGCATGTGTTGGATGCAATGGGATTCAGAGAAGGGTAGGGTGCAGTTTCTGTCTTTTACAGAGTCTGAAGTGTAGTAACTATCAAAATCTCTGTGACTCACAGTGATAGACCCGTGGAACTCACAGGATTAGAAATCCCCTGGGATTTAGAGAAAGTGGAAAATTTTAGAATGGAAAAGAAGAGGTTAAAAATAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTNNNN | pathogenic | 277,804 |
Gene ITGB3 (integrin subunit beta 3) variant at chromosome position 47286318 on chromosome 17: benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | TAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTT | TAGGAGGGTCAAGAGATTAGAAGAGTAATAGAATTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTN | pathogenic | 277,813 |
Assess the variant on chromosome 17, position 47286351, impacting ITGB3 (integrin subunit beta 3): is it benign or pathogenic? If pathogenic, specify the associated condition(s). | pathogenic; ['Bleeding_disorder,_platelet-type,_24', 'Glanzmann_thrombasthenia', 'Glanzmann_thrombasthenia_2', 'Myocardial_infarction,_susceptibility_to', 'Platelet-type_bleeding_disorder_16'] | TTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTT | TTGCAAAGGAAGAGGAAAAGGGACCAGGGCTTTCTGGTTTGCTTTGATCATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTNN | pathogenic | 277,814 |
Mutation at chromosome 17, position 47286400, within ITGB3: benign or pathogenic? If pathogenic, indicate the disease(s). | pathogenic; ['Glanzmann_thrombasthenia'] | ATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCC | ATGCAATTTCTTAGTCCCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCN | pathogenic | 277,822 |
Does the variant impacting ITGB3 on chromosome 17, position 47286416, classify as benign or pathogenic? If pathogenic, what disease(s) is it associated with? | pathogenic; ['Glanzmann_thrombasthenia'] | CCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCT | CCAACTGTATCCAAATCTGCTTATTCAATCTTGGTGGGAGAAGAAGATAAAAACTAACATCTTTCTGCCTTCCAGATGATTCGAAGAATTTCTCCATCCAAGTGCGGCAGGTGGAGGATTACCCTGTGGACATCTACTACTTGATGGACCTGTCTTACTCCATGAAGGATGATCTGTGGAGCATCCAGAACCTGGGTACCAAGCTGGCCACCCAGATGCGAAAGCTCACCAGTAACCTGCGGATTGGCTTCGGGGCATTTGTGGACAAGCCTGTGTCACCATACATGTATATCTCCCCACCAGAGGCCCTCGAAAACCCCTGCTATGAGTAAGTCCCTCCTCCAGACGCCAGGACAGCATCCTTTGCCCCAGGAAGGTCCAAGTCCTGGTTCCTATTTCTAGCTCTAGGATCACTTTGTTGGCTGTCTTCTTGCCAAACTATAGCTCCTTTCTACCTTGGTCTCCCTGTTTGGCAAATGGGCTAGCTTGTGGATCTGGAGTGTTGTGTCAATGGAGCCTAAGGCTGTTTGGAGAACCTAGAAAGAAAATTCATCAGCTTCTCAGTCTTGGTAACAAATAAATAGAAGGCAAGAGAGAATGGGAGGGAAATGACGTCAAAAGTAGAAAGAAATTTATGGATAAGGAAACCGAGAAATTACGATTACAGAAGGATCGATTCCATTGTTGGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTNN | pathogenic | 277,825 |
Is the variant located on chromosome 17 at position 47287102, gene ITGB3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | GGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTGTAATGCTCTAGGTATCTGGGGCAGGTGTGAACTCTTCGTCTCCTAAGGACAATATAGCAACTTCCTCATCTAGGTGACTTAAAGGTGTACCTGTGTAAAGGCAGGAGACTGAGCTGAGGATCTAATGAGCTCCCTGCAAGGTCTAGGATCCCATGGACATGTTCACGATTCACCACCGCCCCCGCACAGTGTCCTTGAGTTCCTTGGTGTCAGCCATATCCAAGTCAAGCACTACCAGACAATGAGTCAGCAACATTTGACCCCTAATCTATGCAAGGCACTGGGCCAGGGGCTGAGGGAGGTAACAAGACTATGTATGGTTCTATCCTTGGGGAGTTTTTGGTCTACTTGAGGAGAAAGGATATATATATTTACAATAACACAAGATGCATGATTAGTGCCAAATGGGTGTGGCACAGCCAATGTGGCTATACGTATCCAAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAA | GGCATTATTGTCTTCATCAAGGCCGTGCATCCTGCAGGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTGTAATGCTCTAGGTATCTGGGGCAGGTGTGAACTCTTCGTCTCCTAAGGACAATATAGCAACTTCCTCATCTAGGTGACTTAAAGGTGTACCTGTGTAAAGGCAGGAGACTGAGCTGAGGATCTAATGAGCTCCCTGCAAGGTCTAGGATCCCATGGACATGTTCACGATTCACCACCGCCCCCGCACAGTGTCCTTGAGTTCCTTGGTGTCAGCCATATCCAAGTCAAGCACTACCAGACAATGAGTCAGCAACATTTGACCCCTAATCTATGCAAGGCACTGGGCCAGGGGCTGAGGGAGGTAACAAGACTATGTATGGTTCTATCCTTGGGGAGTTTTTGGTCTACTTGAGGAGAAAGGATATATATATTTACAATAACACAAGATGCATGATTAGTGCCAAATGGGTGTGGCACAGCCAATGTGGCTATACGTATCCAAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCA | pathogenic | 277,829 |
Is the variant located on chromosome 17 at position 47287138, gene ITGB3, benign or pathogenic? If pathogenic, specify the disease(s) linked. | pathogenic; ['Glanzmann_thrombasthenia'] | GGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAGCATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTGTAATGCTCTAGGTATCTGGGGCAGGTGTGAACTCTTCGTCTCCTAAGGACAATATAGCAACTTCCTCATCTAGGTGACTTAAAGGTGTACCTGTGTAAAGGCAGGAGACTGAGCTGAGGATCTAATGAGCTCCCTGCAAGGTCTAGGATCCCATGGACATGTTCACGATTCACCACCGCCCCCGCACAGTGTCCTTGAGTTCCTTGGTGTCAGCCATATCCAAGTCAAGCACTACCAGACAATGAGTCAGCAACATTTGACCCCTAATCTATGCAAGGCACTGGGCCAGGGGCTGAGGGAGGTAACAAGACTATGTATGGTTCTATCCTTGGGGAGTTTTTGGTCTACTTGAGGAGAAAGGATATATATATTTACAATAACACAAGATGCATGATTAGTGCCAAATGGGTGTGGCACAGCCAATGTGGCTATACGTATCCAAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGC | GGGTGAAAACAGAAGAAATGAAGTGCTAAGGAATATAAAAGAGTGGAAATGACATTTGTTGGACACTTTTATAGTCTGTAAATGGATAACTTGTGCCTCTGTTTGACACTTTGGCTTAAAACTGAATGGCTTATTTATTTAATCGGTGGAGACTGTGCAAATCCATGTATTAGAATAACTTACAATGCTGGTTGCTGAGCCTGAAAAGGTGTGAATTTACTTTTTAGTTTTCAAAGTTACGGCCAGGTGGGGTGACTCACTTCTGTAATCCCAGCACTTTGGGAGGCCAAGATGGGAGGATCACTTGAGCCTAGGAGTTTGAGTTCAGCCTAGGCAACATAGTGAGACCCCCATCTCTACAAAAATTACAAAAAAATTAGCTATGTGTGATGGCGCATGCCTGCAGTCCCCAGGACTACAGGGAGGCTGAGGTGGGAGGATTGATTGAGCCTGGGAGGTTGAGGCTGCAGTGAGCCATGATTGTGCCACTGCACTCCAACCTGGACAATGGAGCACAACTGTCTCTAAAAAAAAAAGAAAAAGTTTTGAAGTTATATGATGTGGCATTCAACCTTCTATCTGGGTTGTAAGGTTCCCAGGCAAGACATCAGCTATTAATTAAACACACTATTTTGACTGGGGGCAGAAATGCTCCTGTCTTGCATGATCTATCAATTTATTGATGGTTCAGGGACCTTAACTTACTGATGGACTTTTGCTTTATTGTTACTTTAGGAAAGTGTTAAGTATAAGGTGATAGTAATAGCAACTCGAGCCTCGCTCTGGTCTAAGTGCTTTGTGTGTATGAACTTACTTAAGTCTCACAACTCTTATGGGATATGTGCTATCCTGGCCCCTCTTTCATAGGTTGGATTGAGAGGCTTGCCAAAGGTCCCATGACTAGTACAGAGGGCACCTGGGATCTAAGCTCAGGGAGTCTTGTTTCCAGCTCAATCTCTTATCTTCTAGGTTAGCTGGATGGGGGTAATGTTGATGGGGAGCTTCAGATAATTTGAGGATTTTGGAGTCTGAACTGTCTGGGTAACTGTGGTTGTATGGAACTGGCCTTGGCATACCACTATCTATATTTGTCCCCTCTCTTTCCTCCCAATTCCCATGCTGCCTTTTCCATGAAGGTGTCTGCTTAAATTATCTCCCATCCCTCCCCAGTATGAAGACCACCTGCTTGCCCATGTTTGGCTACAAACACGTGCTGACGCTAACTGACCAGGTGACCCGCTTCAATGAGGAAGTGAAGAAGCAGAGTGTGTCACGGAACCGAGATGCCCCAGAGGGTGGCTTTGATGCCATCATGCAGGCTACAGTCTGTGATGTGAGTTTGGAGGACTTGGAGTGCCAGGTGTGGCTGGCATAGATCAAAATGGGAAAGGAAGTGACTGAACTCTGGGGATTTCTGGTGTAAAATGAGATGAGAACTAAGCAGGGCTTCCTGCAGTTATGAGTAGTAAGTTGCTCCTGATATTCAGCCTTGGCTTAGATCCACTCCCTGGCCTGAGCTGACATTTCTTTGAACCTCAGTGGTCTCAGATGTTCCCAGGGGAGAGCATCTTCCCATCTTCAGAGTTACTTCAGAGTTAAGGCTGAGTTAACTTAACCTCAGCAAAGTAGGCAGATGTTCAGATGAGATTTCTTCTAGCCCAGATCAGCTCTGTGGATGCACGTCAGTTTCTAGATGAGCAATGTGACTGTCATTAGAAGAGTTAAGTTTGGAGTTTAAGAAGATCTCATTCAGCTGCTTGAACTAATCAGCTATGAGACTGTTTTCTGAAGAGAATGAAACTCCTGAACTGGAAAGCTTCAGCTTCGGTTCCAAGGACTGGGACTGAGACCCTTGTTTTGAAGAAAAATAAGCTGTCCAGCCCTTTAGCCAGGGAGCACCTTGGGTCTCTGTTCTCTACCAGTGACATGGCTGAATTTGTTTTGTCTCCTCTGCCTTTGTTTTTTGTTTTCTTTTAACAGGAAAAGATTGGCTGGAGGAATGATGCATCCCACTTGCTGGTGTTTACCACTGATGCCAAGACTCATATAATTGGACGGAAGGCTGGCAGGCATTGTCCAGCCTAATGACGGGCAGTGTCATGTTGGTAGTGACAATCATTACTCTGCCTCCACTACCATGGTGAGATCTCTGGCACCACCTATGGTTTCTATTCATGATTGTGAGGGTTGCCCTAATCTAGGCAGAGTCTGTGTGAATATGAAAATGGCAGCCCCTCCTTCTGGGCAGGGTGCAGGGCTCGGTTCCAGCTTGCCCCTATCCCTTACCAACTGGACACCGTCATCCAGCATACAACCTATATAACCATTAGAGATGTCCCTGATTGTGGTGTTATCACTGCCTTCACTGTCACCAGCATAGCAGCAGCATCATGGGATCCAGAATGGACCCAAAGGATTTTTACAACCCAGCTGGAAAGCAGGTCTTCCTCTCCACTCTGATTAGCCCTTTCTTGGAATACCATACTAACTTGTGGTTATTGGAAGAAGACAGAGGAAAAAAAAGAGAAAGATTGGCCAGGCATATGATGGCTCATGCCTGTAATCTCAGCACTTTGGGAGGCTGAGGTGGGAGGATCACGTGAGTCCAGGAGTTTGAAACCAGCTTGGGAAATATAGTGAGACCCTGCCTCTACAAGAAAATGCAAAAATTCGTTGAGTGTTGTGGTTTGTGCCTATGGTCCCAGCTACTTGTGGGGCTGAGGCAGAAAGATCTCTTGAGCCCAGTAGTCTGAGGCTGCAGTGAGCTGTGATCTTGCCACTACACTCCAGCCTGAGTGACAGAGCAAGAACCACCCCTGCTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTTGATACAGAGTCTTGCTTTGTTGCCCAGCTGGAGTGCAGTAGTGCAATCTTGGCTCACAAGCTTCACCACCTCAGTCTCCTGAATAGCTGGGACCACAGGCATGCACTACCATGCCCAGCTAATTTTTGAAAACAGGGTCTTTCTATGTTGCCCAGGCTGGTCTCAAACTCCTTGGCTTAAGCAATCTGCCCTCTTAAGCCTCCCAAAGTGCTGGGATTACAGGTGTGAGCCATTGCTCCTAGTGGAGACCCCTTCTCTTAGAAAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAAAGAGGGGAAAGAACATAAAAGGCATGGTGAACAGGTCCTACGAGGAAAGATTAAAGGGCCAGAGTCATTTAGCTTGAAAGAAAGAAGGCTAAAGGATGATTTAGCTTATACATGAGAAAACTTCTTATAAGTTGTTTTATATGGCCATAGAAGGTTAAACAAGAGGAAAATATTTAAATTGAATCAGGAGAAATTACTATAAGCCATAAGAGAAATGTGCTGTAATGCTCTAGGTATCTGGGGCAGGTGTGAACTCTTCGTCTCCTAAGGACAATATAGCAACTTCCTCATCTAGGTGACTTAAAGGTGTACCTGTGTAAAGGCAGGAGACTGAGCTGAGGATCTAATGAGCTCCCTGCAAGGTCTAGGATCCCATGGACATGTTCACGATTCACCACCGCCCCCGCACAGTGTCCTTGAGTTCCTTGGTGTCAGCCATATCCAAGTCAAGCACTACCAGACAATGAGTCAGCAACATTTGACCCCTAATCTATGCAAGGCACTGGGCCAGGGGCTGAGGGAGGTAACAAGACTATGTATGGTTCTATCCTTGGGGAGTTTTTGGTCTACTTGAGGAGAAAGGATATATATATTTACAATAACACAAGATGCATGATTAGTGCCAAATGGGTGTGGCACAGCCAATGTGGCTATACGTATCCAAGGGAGGAAAGGTCATCATGAGCTGGGATGGCCAAGGAAGTCTCCTGAAGAAGGTGGGGGCTAAGCTAGGCCCTAAGAAAGGAGGAGGATTACCAACAAGAAGGCCACTCCAGGTGGGAGACAGTGGGCCAGATCACTGCTGAGTGGAAGAGGGAGAGAGGTGAGCAATATTTGGAAAGAAAGACTGAGACCACACGGTGGAGGATCACGAGGGCCAGGCCAAGGCATTTGTCAGTAGTTCCAAAACAGAGGCCTAACCCAGTCCCTTGTGCACGGAAGCNN | pathogenic | 277,831 |
Subsets and Splits
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