Table 1 BRCA1 and BRCA2 variants in the 26 validation samples

BRCA2

NM_000059.3:c.-26G>A

–

NM_000059.3:c.425+67A>C

–

NM_000059.3:c.681+56C>T

–

NM_000059.3:c.865A>C

NP_000050.2:p.Asn289His

NM_000059.3:c.1365A>G

NM_000059.3:c.1365A>G(p.Ser455=)

NM_000059.3:c.1910-74T>C

–

NM_000059.3:c.1910-51G>T

–

NM_000059.3:c.2229T>C

NM_000059.3:c.2229T>C(p.His743=)

NM_000059.3:c.2971A>G

NP_000050.2:p.Asn991Asp

NM_000059.3:c.3396A>G

NM_000059.3:c.3396A>G(p.Lys1132=)

NM_000059.3:c.3807T>C

NM_000059.3:c.3807T>C(p.Val1269=)

NM_000059.3:c.4563A>G

NM_000059.3:c.4563ª>G(p.Leu1521=)

NM_000059.3:c.4585G>A

NP_000050.2:p.Gly1529Arg

NM_000059.3:c.5744C>T

NP_000050.2:p.Thr1915Met

NM_000059.3:c.6100C>T

NP_000050.2:p.Arg2034Cys

NM_000059.3:c.6322C>T

NP_000050.2:p.Arg2108Cys

NM_000059.3:c.6513G>C

NM_000059.3:c.6513G>C(p.Val2171=)

*NM_000059.3:c.6988A>G

NP_000050.2:p.Ile2330Val

NM_000059.3:c.7008-62A>G

–

NM_000059.3:c.7242A>G

NM_000059.3:c.7242A>G(p.Ser2414=)

NM_000059.3:c.7397T>C

NP_000050.2:p.Val2466Ala

NM_000059.3:c.7806-14T>C

–

NM_000059.3:c.8482A>G

NP_000050.2:p.Ile2828Val

NM_000059.3:c.8518A>G

NP_000050.2:p.Ile2840Val

NM_000059.3:c.8755-66T>C

–

BRCA1

NM_007294.3:c.5266dupC

NP_009225.1:p.Gln1756ProfsTer74

NM_007294.3:c.5095C>T

NP_009225.1:p.Arg1699Trp

NM_007294.3:c.4837A>G

NP_009225.1:p.Ser1613Gly

NM_007294.3:c.4535G>T

NP_009225.1:p.Ser1512Ile

NM_007294.3:c.4308T>C

NM_007294.3:c.4308T>C(p.Ser1436)

NM_007294.3:c.3916_3917delTT

NP_009225.1:p.Leu1306AspfsTer23

NM_007294.3:c.3548A>G

NP_009225.1:p.Lys1183Arg

NM_007294.3:c.3119G>A

NP_009225.1:p.Ser1040Asn

NM_007294.3:c.3113A>G

NP_009225.1:p.Glu1038Gly

NM_007294.3:c.2612C>T

NP_009225.1:p.Pro871Leu

NM_007294.3:c.2311T>C

NM_007294.3:c.2311T>C(p.Leu771)

NM_007294.3:c.2082C>T

NM_007294.3:c.2082C>T(p.Ser694)

NM_007294.3:c.2077G>A

NP_009225.1:p.Asp693Asn

NM_007294.3:c.1067A>G

NP_009225.1:p.Gln356Arg

NM_007294.3:c.736T>G

NP_009225.1:p.Leu246Val

NM_007294.3:c.442-34C>T

–

NM_007294.3:c.-19-115T>C

–