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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) | ||||||||||
| single nucleotide variant | NM_007294.4(BRCA1):c.1058G>A (p.Trp353Ter) | BRCA1 | Pathogenic | 17 | 41246490 | 41246490 | C | T | reviewed by expert panel | ClinGen:CA000704 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1059G>A (p.Trp353Ter) | BRCA1 | Pathogenic | 17 | 41246489 | 41246489 | C | T | reviewed by expert panel | ClinGen:CA000705 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1063A>T (p.Lys355Ter) | BRCA1 | Pathogenic | 17 | 41246485 | 41246485 | T | A | reviewed by expert panel | ClinGen:CA000707 |
| single nucleotide variant | NM_007294.4(BRCA1):c.1066C>T (p.Gln356Ter) | BRCA1 | Pathogenic | 17 | 41246482 | 41246482 | G | A | reviewed by expert panel | ClinGen:CA000711 |
| Deletion | NM_007294.4(BRCA1):c.1067del (p.Gln356fs) | BRCA1 | Pathogenic | 17 | 41246481 | 41246481 | CT | C | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1186&base_change=del A,ClinGen:CA000713 |
| Deletion | NM_007294.4(BRCA1):c.1068_1077del (p.Gln356fs) | BRCA1 | Pathogenic | 17 | 41246471 | 41246480 | ATGGCAGTTTC | A | reviewed by expert panel | ClinGen:CA000714 |
| Deletion | NM_007294.4(BRCA1):c.1072del (p.Leu358fs) | BRCA1 | Pathogenic | 17 | 41246476 | 41246476 | AG | A | reviewed by expert panel | ClinGen:CA000718,Breast Cancer Information Core (BIC) (BRCA1):1191&base_change=del C |
| single nucleotide variant | NM_007294.4(BRCA1):c.1082C>G (p.Ser361Ter) | BRCA1 | Pathogenic | 17 | 41246466 | 41246466 | G | C | reviewed by expert panel | ClinGen:CA000726 |
| Deletion | NM_007294.4(BRCA1):c.1082_1092del (p.Cys360_Ser361insTer) | BRCA1 | Pathogenic | 17 | 41246456 | 41246466 | TAGGATTCTCTG | T | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1201&base_change=del 11,ClinGen:CA000724 |
| Deletion | NM_007294.4(BRCA1):c.1088del (p.Asn363fs) | BRCA1 | Pathogenic | 17 | 41246460 | 41246460 | AT | A | reviewed by expert panel | Breast Cancer Information Core (BIC) (BRCA1):1207&base_change=del A,ClinGen:CA000730 |
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