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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_000059.4(BRCA2):c.9470del (p.Glu3157fs) | BRCA2 | Pathogenic | 13 | 32969039 | 32969039 | GA | G | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.9517_9518insCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTCTT (p.Cys3173fs) | BRCA2 | Pathogenic | 13 | 32971048 | 32971049 | T | TTTCTAAGTCAAATGTTTTCAAAACAATTGACATTGTTTTC | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.9704_9705insG (p.Lys3236fs) | BRCA2 | Pathogenic | 13 | 32972354 | 32972355 | C | CG | reviewed by expert panel | - |
| Insertion | NM_000059.4(BRCA2):c.9716_9717insAT (p.Val3240fs) | BRCA2 | Pathogenic | 13 | 32972366 | 32972367 | C | CAT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5533_5534insG (p.Tyr1845Ter) | BRCA1 | Pathogenic | 17 | 41197753 | 41197754 | T | TC | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.5518del (p.Asp1840fs) | BRCA1 | Pathogenic | 17 | 41197769 | 41197769 | TC | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.5495_5496insTT (p.Val1833fs) | BRCA1 | Pathogenic | 17 | 41197791 | 41197792 | C | CAA | reviewed by expert panel | - |
| 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 | - |
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