Gene | Mutation | Function | PROVEANa | SIFTb | Polyphen2 HDIVc | Polyphen2 HVARd | LRTe | MutationTaster2f |
---|---|---|---|---|---|---|---|---|
BRCA1 | c.154Cā>āT | p.Leu52Phe | N (ā0.59) | D (0) | D (1) | D (0.985) | D | D (1) |
BRCA1 | c.1337Gā>āT | p.Arg446Ile | D (ā7.74) | D (0.007) | D (0.986) | D (0.930) | N | P (7.05e-05) |
BRCA1 | c.2566Tā>āC | p.Tyr856His | D (ā3.73) | D (0.015) | P (0.730) | P (0.733) | N | D (1) |
MLH1 | c.1151Tā>āA | p.Val384Asp | D (ā5.62) | D (0) | D (1) | D (0.998) | D | D (1) |
MLH1 | c.776Tā>āC | p.Leu259Ser | D (ā5.36) | D (0) | P (0.808) | P (0.706) | N | D (1) |
MLH1 | c.2135Gā>āT | p.Trp712Leu | D (ā7.28) | D (0.006) | P (0.576) | P (0.553) | D | D (1) |