Summary of germline RAD51D variants.

aExon (Ex), intervening sequence (IVS).bVariant positions are reported in reference to NCBI RefSeq NM_002878.3 (mRNA) and NP_002869 (protein).cIn addition to the variants listed, common variants rs4796033, rs28363284 (non-synonymous) and rs9901455 (synonymous) were detected at high frequency in both cases and controls.dAll variants were queried against 1000 Genomes (1000 G) data using the 1000 Genomes Browser which integrates SNP and indel calls from 1,092 individuals (data release 20110521 v3). The minor allele frequency (MAF) is provided here.eAll variants were queried against Exome Variant Server (EVS), NHLBI Exome Sequencing Project (ESP). EVS contains SNP information from 5,379 individuals (data release ESP5400). The minor allele frequency (MAF) is provided here.fBreast cancer only family (BC), ovarian cancer only family (OC), breast and ovarian cancer family (BC/OC).gVariants annotated with N/A were not assessed in control samples.h[22].