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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) | ||||||||||
| Duplication | NM_007294.4(BRCA1):c.2556dup (p.Asp853Ter) | BRCA1 | Pathogenic | 17 | 41244991 | 41244992 | C | CA | reviewed by expert panel | ClinGen:CA327819 |
| Duplication | NM_007294.4(BRCA1):c.2558dup (p.Asp853fs) | BRCA1 | Pathogenic | 17 | 41244989 | 41244990 | A | AT | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2676&base_change=ins A,ClinGen:CA001684 |
| Duplication | NM_007294.4(BRCA1):c.2560_2561dup (p.Gln855fs) | BRCA1 | Pathogenic | 17 | 41244986 | 41244987 | A | AGC | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2680&base_change=ins GC,ClinGen:CA001686 |
| Deletion | NM_007294.4(BRCA1):c.2561_2565del (p.Ala854fs) | BRCA1 | Pathogenic | 17 | 41244983 | 41244987 | ACTGAG | A | reviewed by expert panel | ClinGen:CA001687 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2568T>G (p.Tyr856Ter) | BRCA1 | Pathogenic | 17 | 41244980 | 41244980 | A | C | reviewed by expert panel | ClinGen:CA001694 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2572C>T (p.Gln858Ter) | BRCA1 | Pathogenic | 17 | 41244976 | 41244976 | G | A | reviewed by expert panel | ClinGen:CA001697 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2591C>G (p.Ser864Ter) | BRCA1 | Pathogenic | 17 | 41244957 | 41244957 | G | C | reviewed by expert panel | ClinGen:CA001703 |
| Deletion | NM_007294.4(BRCA1):c.2594del (p.Lys865fs) | BRCA1 | Pathogenic | 17 | 41244954 | 41244954 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2711&base_change=del A,ClinGen:CA001705 |
| single nucleotide variant | NM_007294.4(BRCA1):c.2603C>A (p.Ser868Ter) | BRCA1 | Pathogenic | 17 | 41244945 | 41244945 | G | T | reviewed by expert panel | ClinGen:CA001713 |
| Deletion | NM_007294.4(BRCA1):c.2611_2612del (p.Pro871fs) | BRCA1 | Pathogenic | 17 | 41244936 | 41244937 | CGG | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):2730&base_change=del CC,ClinGen:CA001716 |
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