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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.5466dup (p.Ala1823fs) | BRCA1 | Pathogenic | 17 | 41199660 | 41199661 | C | CA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5430_5431insGA (p.Gln1811fs) | BRCA1 | Pathogenic | 17 | 41199696 | 41199697 | G | GTC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5269_5270insC (p.Asp1757fs) | BRCA1 | Pathogenic | 17 | 41209076 | 41209077 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5248_5249insTC (p.Lys1750fs) | BRCA1 | Pathogenic | 17 | 41209097 | 41209098 | T | TGA | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.5249dup (p.Arg1751fs) | BRCA1 | Pathogenic | 17 | 41209096 | 41209097 | C | CT | reviewed by expert panel | ClinGen:CA645373152 |
| Insertion | NM_007294.4(BRCA1):c.5247_5248insTC (p.Lys1750fs) | BRCA1 | Pathogenic | 17 | 41209098 | 41209099 | T | TGA | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.5237del (p.His1746fs) | BRCA1 | Pathogenic | 17 | 41209109 | 41209109 | GT | G | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5210_5211insC (p.Arg1737fs) | BRCA1 | Pathogenic | 17 | 41209135 | 41209136 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5201_5202insC (p.Phe1734_Glu1735insTer) | BRCA1 | Pathogenic | 17 | 41209144 | 41209145 | A | AG | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.5165dup (p.Ile1723fs) | BRCA1 | Pathogenic | 17 | 41215377 | 41215378 | A | AG | reviewed by expert panel | - |
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