Table 1. BRCA1 and BRCA2 Variants in the 27 Coriell Cell Line Reference Samples.
| dbSNP HGVS names | ||
|---|---|---|
| Sample | NM_007300.3 | NP_009231.2 |
| BRCA1 | ||
| GM13711 | c.3119G>A | p.Ser1040Asn |
| GM13715 | c.5326_5327insC | p.Ser1776delinsSerProfs |
| GM14634 | c.4065_4068delTCAA | p.Asn1355_Gln1356delinsLysfs |
| GM14636 | c.5621_5622insA | p.Tyr1874delinsTerProfs |
| GM14637 | c.4327C>T | p.Arg1443Ter |
| GM14638 | c.213-11T>G | - |
| GM14684 | c.797_798delTT | p.Val266 = fs |
| GM14090 | c.66_67delAG | p.Leu22_Glu23delinsLeuValfs |
| GM14092 | c.5201T>C | p.Val1734Ala |
| GM14093 | c.1204delG | p.Glu402Serfs |
| GM14094 | c.1175_1214del40 | p.Leu392_Ser405delinsGlnfs |
| GM14095 | c.5200delG | p.Val1734Terfs |
| GM14096 | c.3481_3491delGAAGATACTAG | p.Glu1161_Ser1164delinsPhefs |
| GM14097 | c.181T>G | p.Cys61Gly |
| GM13714 | c.5382_5383insC | p.Asn1795Glnfs |
| GM13713 | c.3748G>T | p.Glu1250Ter |
| GM13712 | c.2155_2156insA | p.Lys719delinsLysArgfs |
| GM13710 | c.4327C>G | p.Arg1443Gly |
| GM13709 | c.2068delA | p.Lys690 = fs |
| GM13708 | c.4752C>G | p.Tyr1584Ter |
| GM13705 | c.3756_3759delGTCT | p.Leu1252_Ser1253delinsLeufs |
| BRCA2 | ||
| GM14170 | c.5946delT | p.Ser1982Argfs |
| GM14622 | c.6275_6276delTT | p.Leu2092Profs |
| GM14623 | c.125A>G | p.Tyr42Cys |
| GM14624 | c.5718_5719delCT | p.Asn1906_Ser1907 = fs |
| GM14626 | c.9976A>T | p.Lys3326Ter |
| GM14639 | c.6198_6199delTT | p.Val2066_Ser2067delinsValHisfs |
All mutations were detected by NGS with the PGM system and the MiSeq system (with QSAP variant calling) software, as well as by Sanger sequencing.