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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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.1885A>T (p.Arg629Ter) | BRCA1 | Pathogenic | 17 | 41245663 | 41245663 | T | A | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1882_1883insCC (p.Ser628fs) | BRCA1 | Pathogenic | 17 | 41245665 | 41245666 | C | CGG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1880_1881insAGTT (p.Ser628fs) | BRCA1 | Pathogenic | 17 | 41245667 | 41245668 | G | GAACT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1845_1846insG (p.Ser616fs) | BRCA1 | Pathogenic | 17 | 41245702 | 41245703 | A | AC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1726_1727insG (p.Lys576fs) | BRCA1 | Pathogenic | 17 | 41245821 | 41245822 | T | TC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1685_1686insGAAAG (p.Ile562fs) | BRCA1 | Pathogenic | 17 | 41245862 | 41245863 | A | ACTTTC | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.1670_1673del (p.Thr557fs) | BRCA1 | Pathogenic | 17 | 41245875 | 41245878 | TTTTG | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1652_1653insC (p.Gly552fs) | BRCA1 | Pathogenic | 17 | 41245895 | 41245896 | A | AG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.1566_1567insC (p.Ala524fs) | BRCA1 | Pathogenic | 17 | 41245981 | 41245982 | A | AG | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.1521_1531del (p.Thr509fs) | BRCA1 | Pathogenic | 17 | 41246017 | 41246027 | CCTGATGTAGGT | C | reviewed by expert panel | - |
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