Variants | Gene | Exon | AA change | Clinical importance (BIC) | Functional prediction | ||
---|---|---|---|---|---|---|---|
PolyPhen | SIFT | Mutation taster | |||||
c.293G > C | BRCA1 | 5 | G98A | Unknown | PD | Del | DC |
c.397 C > T | // | 6 | R 133C | // | PD | Del | DC |
c.536A > G | // | 7 | Y179C | // | PD | Del | DC |
c.1067A > G | // | 11 | Q356R | // | PD | D | Pol |
c.1648A > C | // | 11 | N550H | NA | PD | D | Pol |
c.5117G > C | // | 17 | G1706A | // | B | Del | DC |
c.6100 C > T | BRCA2 | 11 | R2034C | // | PD | D | Pol |
c.7397T > C | // | 14 | V2466A | No | PD | D | Pol |
c.7712A > G | // | 16 | E2571G | // | PD | D | DC |
c.9976A > T | // | 27 | K3326* | LB | NA | NA | DC |