Table 3.
Gene | HGVS1 | traditional2 | protein | # fam3 | LR per family4 | LR-variant5 |
---|---|---|---|---|---|---|
BRCA1 | c.135-15_135-12del6 | IVS4-15delCTTT | p.= | 19 | 3.8592 (2+) | 3.8592 |
BRCA1 | c.2613G>A7 | 2732G>A | p.Pro871Pro | 1 | 1.8533(2+) | 1.8533 |
BRCA1 | c.5152+20T>A7 | IVS18+20T>A | p.= | 1 | 3.6711(1+; 1+) | 3.6711 |
BRCA2 | c.125A>G8 | 353A>G | p.Y42C | 2 | 0.9728(2+) | 0.7405 |
0.7612(1+; 4+) |