Gene | Variant | Effect | Allele count | MAF | Type |
---|---|---|---|---|---|
BRCA1 | NM_007294.3:c.68_69delAG | p.Glu23Valfs*17 | 29 | 0.024% | Founder [24] |
BRCA1 | NM_007294.3:c.5266dupC | p.Gln1756Profs*74 | 19 | 0.016% | Founder [24] |
BRCA1 | NM_007294.3:c.181 T > G | p.Cys61Gly | 8 | 0.0067% | Founder [36] |
BRCA1 | NM_007294.3:c.4035delA | p.Glu1346Lysfs*20 | 5 | 0.0041% | Founder [37] |
BRCA1 | NM_007294.3:c.1687C > T | p.Gln563* | 5 | 0.0041% | Founder [38] |
BRCA2 | NM_000059.3:c.5946delT | p.Ser1982Argfs*22 | 32 | 0.027% | Founder [24] |
BRCA2 | NM_000059.3:c.3847_3848delGT | p.Val1283Lysfs*2 | 11 | 0.011% | Recurrent [39] |
BRCA2 | NM_000059.3:c.658_659delGT | p.Val220Ilefs*4 | 6 | 0.0061% | |
BRCA2 | NM_000059.3:c.7480C > T | p.Arg2494* | 6 | 0.0050% | Founder [42] |
BRCA2 | NM_000059.3:c.3545_3546delTT | p.Phe1182* | 4 | 0.0033% | |
BRCA2 | NM_000059.3:c.3599_3600delGT | p.Cys1200* | 4 | 0.0033% | Recurrent [45] |
BRCA2 | NM_000059.3:c.5576_5579delTTAA | p.Ile1859Lysfs*3 | 4 | 0.0033% | |
BRCA2 | NM_000059.3:c.7069_7070delCT | p.Leu2357Valfs*2 | 4 | 0.0033% | Recurrent [48] |
BRCA2 | NM_000059.3:c.9118-2A > G | Splice acceptor | 4 | 0.0033% |