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家族性膵がん
腫瘍性疾患
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| Type | Name | Gene Symbol | Clinical Significance | Chromosome | Start | Stop | Reference Allele | Alternate Allele | Review Status | Other IDs |
|---|---|---|---|---|---|---|---|---|---|---|
| (GRCh37) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2690_2691dup (p.Lys898fs) | BRCA1 | Pathogenic | 17 | 41244856 | 41244857 | T | TTG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2688_2689insA (p.Pro897fs) | BRCA1 | Pathogenic | 17 | 41244859 | 41244860 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2660_2661insA (p.His888fs) | BRCA1 | Pathogenic | 17 | 41244887 | 41244888 | G | GT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2650_2651insGGCA (p.Thr884fs) | BRCA1 | Pathogenic | 17 | 41244897 | 41244898 | G | GTGCC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2647_2648insGGCA (p.Ala883fs) | BRCA1 | Pathogenic | 17 | 41244900 | 41244901 | G | GTGCC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2578_2579insTT (p.Thr860fs) | BRCA1 | Pathogenic | 17 | 41244969 | 41244970 | G | GAA | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.2576del (p.Asn859fs) | BRCA1 | Pathogenic | 17 | 41244972 | 41244972 | AT | A | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2566_2567insTGATT (p.Tyr856fs) | BRCA1 | Pathogenic | 17 | 41244981 | 41244982 | T | TAATCA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2563_2564insGC (p.Gln855fs) | BRCA1 | Pathogenic | 17 | 41244984 | 41244985 | T | TGC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2557_2558insTTCACTTTTC (p.Asp853fs) | BRCA1 | Pathogenic | 17 | 41244990 | 41244991 | T | TGAAAAGTGAA | reviewed by expert panel | - |
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