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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) | ||||||||||
| Insertion | NM_007294.4(BRCA1):c.730_731insGTAACAAATACTGAACATCATCAACCCAGTA (p.Asn244delinsSerAsnLysTyrTer) | BRCA1 | Pathogenic | 17 | 41246817 | 41246818 | T | TTACTGGGTTGATGATGTTCAGTATTTGTTAC | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.678_679insC (p.Glu227fs) | BRCA1 | Pathogenic | 17 | 41246869 | 41246870 | C | CG | reviewed by expert panel | - |
| Insertion | NM_007294.4(BRCA1):c.376_377insT (p.Gln126fs) | BRCA1 | Pathogenic | 17 | 41256203 | 41256204 | T | TA | reviewed by expert panel | - |
| 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 | - |
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