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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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.335dup (p.Asn112fs) | BRCA1 | Pathogenic | 17 | 41256244 | 41256245 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.190_191insAATGTAAGGATGATATAAA (p.Cys64Ter) | BRCA1 | Pathogenic | 17 | 41258494 | 41258495 | C | CTTTATATCATCCTTACATT | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.187_188del (p.Leu63fs) | BRCA1 | Pathogenic | 17 | 41258497 | 41258498 | TAA | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.183_184insGCGC (p.Pro62fs) | BRCA1 | Pathogenic | 17 | 41258501 | 41258502 | G | GGCGC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.141_142insT (p.Met48fs) | BRCA1 | Pathogenic | 17 | 41258543 | 41258544 | T | TA | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.121del (p.His41fs) | BRCA1 | Pathogenic | 17 | 41267756 | 41267756 | TG | T | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.72_73insGTCT (p.Pro25fs) | BRCA1 | Pathogenic | 17 | 41276041 | 41276042 | G | GAGAC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.71_72insA (p.Cys24Ter) | BRCA1 | Pathogenic | 17 | 41276042 | 41276043 | A | AT | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.67_68insC (p.Glu23fs) | BRCA1 | Pathogenic | 17 | 41276046 | 41276047 | T | TG | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.34dup (p.Gln12fs) | BRCA1 | Pathogenic | 17 | 41276079 | 41276080 | T | TG | reviewed by expert panel | - |
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