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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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.5156_5157insAATA (p.Thr1720fs) | BRCA1 | Pathogenic | 17 | 41215386 | 41215387 | C | CTATT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5148_5149insC (p.Phe1717fs) | BRCA1 | Pathogenic | 17 | 41215894 | 41215895 | A | AG | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.5102del (p.Leu1701fs) | BRCA1 | Pathogenic | 17 | 41215941 | 41215941 | CA | C | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5084_5085insG (p.Phe1695fs) | BRCA1 | Pathogenic | 17 | 41215958 | 41215959 | A | AC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5059_5060insCAAC (p.Val1687fs) | BRCA1 | Pathogenic | 17 | 41219639 | 41219640 | A | AGTTG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5043_5044insTAAT (p.Glu1682Ter) | BRCA1 | Pathogenic | 17 | 41219655 | 41219656 | C | CATTA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5008_5009insC (p.Arg1670fs) | BRCA1 | Pathogenic | 17 | 41219690 | 41219691 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4935_4936insAA (p.Val1646fs) | BRCA1 | Pathogenic | 17 | 41222995 | 41222996 | C | CTT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.4841dup (p.Ala1615fs) | BRCA1 | Pathogenic | 17 | 41223089 | 41223090 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4823_4824insG (p.Glu1609fs) | BRCA1 | Pathogenic | 17 | 41223107 | 41223108 | T | TC | reviewed by expert panel | - |
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