Knowledge base for genomic medicine in Japanese
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家族性膵がん
腫瘍性疾患
Excelでダウンロード表のタイトル行が青色の項目は、クリックすることでソートすることができます。
| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.2162_2163insG (p.Phe721fs) | BRCA1 | Pathogenic | 17 | 41245385 | 41245386 | A | AC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2128_2129insGA (p.Thr710fs) | BRCA1 | Pathogenic | 17 | 41245419 | 41245420 | G | GTC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.2128dup (p.Thr710fs) | BRCA1 | Pathogenic | 17 | 41245419 | 41245420 | G | GT | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.2120del (p.Gly707fs) | BRCA1 | Pathogenic | 17 | 41245428 | 41245428 | AC | A | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2099_2100insA (p.Lys701fs) | BRCA1 | Pathogenic | 17 | 41245448 | 41245449 | C | CT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2079_2080insTA (p.Ser694Ter) | BRCA1 | Pathogenic | 17 | 41245468 | 41245469 | T | TTA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2039_2040insCC (p.Lys680fs) | BRCA1 | Pathogenic | 17 | 41245508 | 41245509 | C | CGG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1964_1965insG (p.Tyr655Ter) | BRCA1 | Pathogenic | 17 | 41245583 | 41245584 | G | GC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1950_1951insCA (p.Lys651fs) | BRCA1 | Pathogenic | 17 | 41245597 | 41245598 | T | TTG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1894_1895insT (p.Ser632fs) | BRCA1 | Pathogenic | 17 | 41245653 | 41245654 | C | CA | reviewed by expert panel | - |
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