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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.3506dup (p.Asp1169fs) | BRCA1 | Pathogenic | 17 | 41244041 | 41244042 | G | GT | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3416dup (p.Ser1139fs) | BRCA1 | Pathogenic | 17 | 41244131 | 41244132 | A | AC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3333dup (p.Glu1112fs) | BRCA1 | Pathogenic | 17 | 41244214 | 41244215 | C | CT | reviewed by expert panel | - |
| Deletion | NM_007294.4(BRCA1):c.3317del (p.Pro1106fs) | BRCA1 | Pathogenic | 17 | 41244231 | 41244231 | AG | A | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3309_3310insC (p.Lys1104fs) | BRCA1 | Pathogenic | 17 | 41244238 | 41244239 | T | TG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3257_3258insGA (p.Gly1087fs) | BRCA1 | Pathogenic | 17 | 41244290 | 41244291 | T | TTC | reviewed by expert panel | - |
| Duplication | NM_007294.4(BRCA1):c.3196dup (p.Glu1066fs) | BRCA1 | Pathogenic | 17 | 41244351 | 41244352 | T | TC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3110_3111insT (p.Lys1037fs) | BRCA1 | Pathogenic | 17 | 41244437 | 41244438 | T | TA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.3054_3055insTGAGA (p.Ile1019Ter) | BRCA1 | Pathogenic | 17 | 41244493 | 41244494 | T | TTCTCA | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.2904_2905insTC (p.Asn969fs) | BRCA1 | Pathogenic | 17 | 41244643 | 41244644 | T | TGA | reviewed by expert panel | - |
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