- Type
- Deletion
- HGVS c.
- NM_003235.5:c.6030_6200-3271del
- Assembly
- GRCh38
- Position
- chr8:132971845-132980077
- Ref / Alt
- TGGATTTCTAAATGTTTCCCAGTTAAAAGGTAATAATGGTAACAACTTCCTCTCCCCTGCGCACAGTACTCTGCAGTTTAGAAAACACATTCACATCTATGCTTTTACAAATCCTCAGCATCTCCTATCCTCGTTCACAGATAAGGAAATGGGGGCTTGGAGAGGGCAACTGGCTAATAAATGTGGTAGCTGAGACATGGCTCCTAGTCCAGTGATCATCACTTTACATGTGCAGTTCTACCTGGCCAAACTTCCTTCCTTCTACTCTTGGCTTGGATATCTTTTGTTCATCTTTCAACACTTAGGCCAAGCAGCTTGGCGAACTTTGGATCCATTTGCATGATGTGTACTTAATGCTTGGTTGATTCCCTTACTAGTGTGTGATTCTGGAAAAGTCACTTAATCTCCCTGAGCCTCTGTTTCCTCCTCATCTGTATATAGGGCTACCAAAGCTACCTTCCTCGTAAGGTTATGTGAGGACCAAGTGAAGTGATACCAACAGAGACCTAGCACAGCCCTAAGCACATGTTAGGTGCTTGATAAGTAGCTCTATCCCTTTGCTCTTAGATCAGAGGCTCCTTGAGTTCAGGTACCAGGTTTTTCAGCAGTGGCTGAGATAGTATCTGAAATATAGTGGTGTATCCCAAATGTCTGCTGAACAATGTACTTGCAGAATTTTTCTCATTTATTAGACTCTTCCATTGTACTCAGTTTCCTGATTGTGGTTTTTTGTTTTTTTTTTTTCCACCCCAGGAGGAGAGGTGACATGTCTCACTCTGAACAGCTTGGGAATTCAGATGTGCAGTGAGGAGAATGGAGGAGCCTGGCGCATTTTGGACTGTGGCTCTCCTGACATTGAAGTCCACACCTATCCCTTCGGATGGTACCAGAAGCCCAGTAAGTACCCTTCTCATGACAGCTATATGGACGTCTTTAGTTAACTATTTCCCAGCCATGCATTAGGACAATATTCTTGGATTGGTGAGTAGATTAATGAAGACTCATTGGGTTCAAGCAACAGAAATAGATTCTGTTTAACTTAAGCAGACAAGAAACTTATTGAAAGTTTGCTCATTGACTCAAAGGAAGGATGAGCAACTAGGTCTCAGTAAAGACGGAAATGGACCATTTCCATGGATGTATGTAACAAGAACAAATAGGCAACTTCTTCAGTGTGCCATGATCATCATTAATCTGCTCCATAGGGTTTAGTGGTTATATTCAACCTTTAAATTCAAGGAGGAGAGTTTGGTCCCACCTGGGCTTAGTCAGCACGCTGCCAGAGGGAGAGTGGGACAGCTTGACGGTCCTAACAAGATGGTATGCACTAGGATAGGGGGTGTTCCTCAAACAGTAGTGAAGGCACTGTTGCTGGACAGGCAAAATCAATAGATATAGACTCTGGCACATTTCCTTGGTTTTCTTACCTTGACAATCAAGACAATGTACCACATGGTAGTCCCATGGAGGAAAACGGGGACAACCAATGTGTATTTGACAATGCATATAGAGTTAGGACTTCAGGGCCAAGGCAGCATTGACCCAACATGGGTCCTTAAAGTATGATTCTGATTATATCTATGTGGCACGTTTTAGGAGCTCAATTTGAAATTGATGAAGGAATGAATGGCATTTACAGTGTGGCATAAGAGCTCCTGGACTCAGATAAGGAGACATTAGGTTTGTTCCAACTCTGCCATCTACTTACTATGGGTTTGTCTTTCGGAAAGTCACACCACTTCCTCAGTTTTTCCATTGGTGAAAACAGCGAATGAGACTCACTATGATTCTGTCACCGCTTACATCACATGTGTTTATGGTATGGATAGATTTGGGGAATAGTGGGCAGCCACATGGAAACTAGACATCTTCATCCTGTGTCCCAGAAGCAAATTCACAAAGATGTCCCAGATCCAAAAAGATGGAACACCCTGTGTTCAACTAGGAGGAGTCAAATTAGAGAGAGGCTGAGCAGAGGTTTAGTATTTCCAACTTCTCCCACTAGTGGCTTCCTTATTAGTTTCAGAGTAAATATATGGGGAATTCTGGCTCTTACTTAGCACTTGCCCTAGAAAATAGAGCCATGGACTGTCTGATCTGGAAATGTGGAAGGGGTCTTCGAGATCCCTACATTTGACCATTCCTTTTTTTTTTTTTTTTTTTTTTGAGGCGGAGTTTTGCTCTTGTCACCCGGGCTGGAGTGCAATGGCGCGATCTCAGCTCACTGCAACCTCCACCTCCTGGGTTCAAGCAATTCTCCTGCCTCAGCCTCCCAAGTAGCTGGGATTACAGGCCCCCACCACCATGCCCAGCTAATTTTTGTATTTTCAGTAGAGATGGGATTTCACCATGTTAGCCAGGGTGGCCTTGAACTCCTGACCTCAGGTGATCCACCCGCCTCGGCCTCCCAAAGTGCTGGGATTACAGGCGTGAGCCACCGCACCCAGCCACATTCTTTATTTCACCCAATATAACCCTTTGTCCAAAGTAGGCAAAGAGAGAAGAAATTACATTCTTCACGTCCCTGCCGTTTCAGACCATGATGGATTTACGTGGGTTATACCATTTAATACTCATAATACTCCTGCAGAGTAGGTATTGTTTTTTCCATTTTAAGGTGAGAAGACTGCAGCGTAGAAAGTTGAATTGCTTGACCCAAACCACACGGCTGGTAGGAAACAGAGGCAGGCTTCAGGCCCAGACCTGATGACCCCAAACTTATTCTCCTTCCCTTTACGATGTTGCCTCCTGGCAGGTCTTTCACATCCCAAAAATGACTAGACAGGAAAATGTCTAGATACCTTTCCTGACTGACCTTCCCCCAACTCAATTGATTAACAAGAAATTGACTAACAGATTAAAAAGAATAAATACTGATAAACTAACAAATCAAACCAGTTGGTGGTTTGGTGCCTTGTTCCATAGCCATATCCAACATGAAAGATCCAGATGCAGCTCCCAGGCAGTATCTGGTGCTCGGCCCTTGCTCATGAGCCTACCCATTCCCTGTGTGTGCCTCAACTTCATGGAAGATGTTTCTGGAGTTAATTATTACCAGTTTGAATGGAATCTTCCTGCTGGTGTCCACCTTCAGCATCCTGTGATTTGATCTGAATTGACTCTATTGGCTTTTTATTTTATTTTAACATCTGAAATTATTTTAAGAAAAACATCAGGATTGTATAATGAAATATCCTCAGTGGGTTTCTATTAAAGGAATAATGTTCCATATATAACAGTTTCCCTGCTTTAACTCATAGAGGAAGGGAGAAAATACCTGCCCAGGTCTTTGACCCCAAAGGAGACCCAGTGCCAGCACTAGGTATTTGGGAGACTTCAGAACTGAGCTCTCACCTCTCACTTCCCCCTTGCCCCATCTGTCCTCTTACCTCCTTACCTCACCAAAGTCTTAAAAATGTCATTTTCCATCTTCATATTACTCATGGAAGAATCGGGTAAAAAGAAGCTTAAGAAGTAATTCATTTGTTCAGAAGTAATGAGAATCAGACCAGAGTGTTACAACATCTTGACAGGAGTTGGCAGGGGAAGGAATCAAGGTACTCATTGTCCCAACTCATTCCATCTGTTCTTTTTCTTTTCATCTGACTGCATAGATCATTAACTTTTTCCAGCATATATTCTGTGGGGTCAGTCTGGGGACTCGACTCAGGAGTTTTGACCAGAAACTTAGAGCAGGGAATTAAACATTCACAGAGGGGTTCTTATTCAACCAACATTGACTGAGCGTTAATCATACCTGGGGGTCCTCTGGCATTACCAATATAACCTCTATGTATTGGGCTCATACTGTGTGCCTGGCTGGATTCCAAACACTTTGCATGCACTATCTCACTTAATTTTCACACCCATGTATCATGAGGAAGTAGAGGCTCAGAGAGGTTGTCACTTACTCAAGGTCACCAGAAAGTAAATCAGAGTTAGAATCTGGACACAAGTCTTTCTGACCCTAAATCACTATGTTGTGTGATTGAAGGTGAAAAAGCCATGATTTCTGTTTTGCAGTCACTCACAGTCTAAGAAGGAGTTAAAGATTATAAATAAATACAACATTCTTGTGCTGGGTCTCTCTTACTATAAGTTTTTCAACTTTACTGAGTGTCTGTTTTCAGTTATATACTGTACTGGGCACTGTGGAAAGTGAGATTAATAAGATATATTCATTTTCCTTAGACACAGTGTAGTGAGGAAAATATGAGGAAATATGATTAAATATAGCAGAAGAAATGAAATACTAGAACACTTATCAGTAAAGTGTCACGGAAACATGGGAGAAAGAAATTGTGCTTGGGAGGTGTCTTAGTCCGTTTTGTGCTGCTATAACAGAATACCACAGACTAGGTAATTTATAATAAACAGAAATGTATTGGCTCTCAGTTCTGGAGACTGGAGAGTCAAATATCAAGGAGCCAGCATCTGTCAAAGGCCTTCTTGCTGCATCATTCCATGGGGAAAGGTAGAAGAGCAAAGAAAAGAAAGGGGACCAAACTTGCCATTTTATAATGGCATTAGTCCCACCCATGAGGGCTCTGCCTCATAAAGGTTTCACCTCTCATTACTGTTGCAATGGCAATTTAATTTCAACATGAGTTTTGGAGGGGACAAACGATGAAACCATAGAGGAGGTGTGGAAGCCTGTTGCTGGAAGGTTCCTATGGGCCCTCTTTTTGGCCTAAGGCCCAGCTCCTGCAATCTCCTCTCCCCAAGCAGGTGGTCTTTCACACTGTGCACTGCCTGCTTGCAGTGTCTGGGTGCCTGGGGAGAGAAAGAAAAAGTGCTACAATGTCATCAGACTCTCATTCTTCCATCCATGGCCCCTGAACAGAAAACACCATGGGATGCACATGGCTTATGGGCATTCTGGTGTGAGTGGCTCCGTGGTTCTCATTTCAGAACAGAAGGAGGAGGACTGGCTGTCACAAGGTTGTGTTGACATGGTGTGATTTGACTCTCCAGCAGAGCAGGACAGGGTTCTTTCTCCCTTAAGTTGTCTTCATCAAACAGAAGTGGGTGGTGGGATAAGTCTTAAGACTTTGTGGATTATTTCCTCCTAAGACCTAGTTTGAGAAGGGTAACCTTACTTAAGGAGACTGGTTTAATAAATTACAGTATTCTCACAGGTGGGCCATGTGGACCAGTAAGAAACCATCTTTTGATTTATGATATAGTTTGAGCCAAAACACACTTATTAGCTGAGTTCTGAACATTAGTACATTGGATTCTATTTTCTCTAGTAAACAAAACCACACCAGTATACTGATGTAAAATCCCAGCACTGAAGCTGACATTGTCATTACTTTTCTCCCCACTCTTAGCTTTGTATTAGGTAATTGCATACATAATAGTAGGAAGTAGCCTCTATGGGACTAGGAAAGTCTGCCTAGAGACAGGAATCTCTGGGCCTGAGCCTTGCAGGATGGATAGGATCCTCTCCTTCACCTCTCTGTCAGCACTGGCACATGAGACAAACATTTTTACCAAGGATTTGATGAATATTTTCAATAATAGATTTTGGCCTTGCTTCAAGTCCATGGTTTGGTCATTTAGTATAGTGACATCTATACTGAGTGATGACTATGAGCCCATTAACACTATGTATTAGTCCATTTTCATGCTGCTGATAAAGACATACTGATAAAGACTGGTTAATTTACAAAAGAAAGAGGTTTAACTGGACTTACGGTTCCACATGACTGAGGAAGCCTCACAATCGTGACGGAAGGCAAGCAGAAGCAAGTCACATCTTACATGAATGGCAGCAGGCGAAGAGAGAAATTGTGCAGGGAAACTCCCATTTTTAAAACCATCAGATCTTGTGAGACCCATTCGCTATCACGAGAATAGCACGGGAAAGACCCACTCCCATGATTCAATCATCTCCCACCAGGTCCCTCCCACAACACATGGGAATCATGGGAGCTACAAGATGAGATTTGGGTGGGGACACAGAGCCAAACCATATCACACTAGGTCCCCTGTTTCTGAGGAATTGCCACTAGGATCAATTAGGAATTGAGATTTATTGAGTTCCTACTATATGCCAAACACCTTGGAAGCACAGAGGGTAGAAGTCCCTGCCCACAAAGGGTTGACAGTCTGGCTAAGGAGACAGATGTTAAAGAAAACAAACCTTTCTTAAGCATTACTGTATGTCAGACTGTGTTCATCCATTTTGCATTGCTATAAAGGAGTATCCAAGACTGGGTAATTTATAAAGAAAAGAGGTTGATTTGGCTCATGGTTCTGCAGGCTGTGCAAGCATGGCACCAGCATCTGCCCAGCTTCTGGAGAAGCCTCAGGAAGCTTTTACTCATGGCACAAGGTGCAGGGGAAGCAGACCTGTCACATGATGACAGTGAGAGAAAGAGAGAGGGAACAAGAGAGGAGGTGCCAGTCTCTTTTAAACACTACTTCTTGTGTGAACTCATAGAGCGAGAATTCACTCATTACTGCGAGGACAGTACCAAGCCATTCATGATGGATCCATCCCCATGACCCAAACACCTCCCACCAGGATCACCTCCAACACTGGAGGTCACATTTCAACATGAGATTTGGAGGGGACACACCTCCAAACCATGTCACAGACACTACTCTAAAGGCATTCCTTGTATCAACTCACACCCCTCTGGGAGGAGGGTGCTGTTCTCCTCCCCAGCCTCAGAGAATTACACCGTGATGTGGCTTGTATTACTGTAGTGGAATCCCAGGGGAGAGGTAGGGTGTTGGGGGTGCTTCTTCAGAGCATGAGAGAGGAACAGGAAATTCTGTTCTGCAAGGGATTATACAAAAGTGACTCTGGGGGAAAGCTGGATATAGAGAAAGGGAAGTGGGGTGAAGGAGCAGTGGCCACTGACTAGCCATAGGCAGTAGGTAGAGAGGAGGTAGCATGTCCCTGCCCTTACAGATCTCACAGCCTCAGAGGCAGAGACCTGCACACATGGACAATTGAAACATAACCTTCTTAGAGGGCTGTGGTCACAGATCAAAGGATGGAGCAGAGTCTCCTAGCATTCAGAAAGAGAAAAGCACAGACCTAGTGCAGCAGAGCACCAAAAGGAGAGTCCAAAGAGCCTGCAGCCATGGGCCTTCTGATTCTGCTATGAGCAGAGTTCAGAAGTGAGCAGAAAGTTCCATGCATCTTAGCATAGAATTGCAGAGTCTCAGGCTAAGCAATGTGAATGCAAATGAGACTGTTTGCAGCCCCTTCCTGGCAGTAGAGCCAGAGAGGAACTGTTCTAAGCCTCCAGAGGACAAGGGTATAAGTGCTGAGGGGAGGAGGGGGTGGTGCGTGGAATAAGGGGCTGCTCTGTGGTTAAGCAGTACCCCAGAGCCCAGGGCTTCCTGGAAGGGGTGGGCCTCTGTGGCATTGGTACTCTCTGTTCTTTGAAGAGAACTAGGGCTGCCCATCTTATCTGCAGCTGTGCATTGTCTGCAAGTGGGGCAAGATCTGTTTACAAAGTCAAATGTGACTTCTAGAAAAGAGAGTTGAAGCCTCACAGTTCCTGTCTTCTGCTAAGCAAATGTTTTTGGACCCTCTTGCAATTCTAGATGTAAGAATCTGGAAAGGAAATGACAAGCTCTTCTAATTATGTGTCTCTGCAACCCACATAGAAACTTCCATATGTAGGTAGCAATTTACTGTAGAATCTATTCTTTATCATCATTCACATCCTATGAACAGCTTCTTAACCTTTTACTAAGCATAAAGTCTGCTGCTGGCACTAGGCTAGCATTTGGCATGCAGTATCTCATTTAATTCCCTAACAATCTCATGAGGTAGGGCCTACTGTTACCCCATGCAGTGCTGTGCTGGCAAATATGTTACAACTGATGAAGTGGGAGTAAGAGCTATTTTTTACTCACAACATTTCTGATACCACATCTGTCAGGTTTTTTGCCCCCACACCAACCAATTCTTCAACCCTCTGTTCCAGTGATTCAATTCAATCCAGACACTAACTACCTGGATTTCAAGTCAGACCCCACAGGTTAAGTCTCAGTCCCAGAAGACTGCCCCCACTTCAGATACCAATCACAAGCCCTGAGCCTCCTGCACTTCTGACCATATAAATTGGGGGTCTCCATGACCTCCTCCTTGGGGTCAATAATTTGCTAGAATGGCTCCCAGGACTCAGGGAAACACTTACTAATTAAGTTTTATTATAAAGGATACAACTCAGAAACAGCCAAAAGGAAGGGGTGCATAGGACAA → T