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Table 1 BRCA1 and BRCA2 variants in the 26 validation samples

From: Development and validation of a variant detection workflow for BRCA1 and BRCA2 genes and its clinical application based on the Ion Torrent technology

Gene HGVSc (hg19) HGVSp
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