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遺伝性乳がん・卵巣がん症候群
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) | ||||||||||
| Deletion | NM_007294.4(BRCA1):c.4168_4169del (p.Asp1390fs) | BRCA1 | Pathogenic | 17 | 41242977 | 41242978 | GTC | G | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.4168_4169dup (p.Asp1390fs) | BRCA1 | Pathogenic | 17 | 41242976 | 41242977 | G | GTC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4117_4118insTT (p.Glu1373fs) | BRCA1 | Pathogenic | 17 | 41243028 | 41243029 | T | TAA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4112_4113insATCT (p.Cys1372fs) | BRCA1 | Pathogenic | 17 | 41243033 | 41243034 | C | CAGAT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4108_4109insATCT (p.Ser1370fs) | BRCA1 | Pathogenic | 17 | 41243037 | 41243038 | G | GAGAT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4070_4071insTTGA (p.Glu1357delinsAspTer) | BRCA1 | Pathogenic | 17 | 41243477 | 41243478 | T | TTCAA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.4051_4052insG (p.Leu1351fs) | BRCA1 | Pathogenic | 17 | 41243496 | 41243497 | A | AC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.4018_4019dup (p.Leu1340fs) | BRCA1 | Pathogenic | 17 | 41243528 | 41243529 | C | CAA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3872_3873insC (p.Ser1292fs) | BRCA1 | Pathogenic | 17 | 41243675 | 41243676 | A | AG | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3824dup (p.Leu1276fs) | BRCA1 | Pathogenic | 17 | 41243723 | 41243724 | T | TA | reviewed by expert panel | - |
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