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Table 1 HCAR rare non-synonymous variants detected in the AHCC

From: Rare and potentially pathogenic variants in hydroxycarboxylic acid receptor genes identified in breast cancer cases

Gene GRCh38 position rs ID Alleles GVS function cDNA change Protein change MAF (%) p Value Polyphen2 (Missense variants only)
AHCC BC cases EVS controls
HCAR1 chr12:122729619 rs140482291 G > A missense c.721C > T p.L241F 1.087 0.151 0.139 Probably Damaging
  chr12:122730282 rs148912167 G > C Missense c.58C > G p.P20A 1.087 0.000^ 0.011 Probably Damaging
HCAR3 chr12:122715621 N/A G > – frameshift c.1117delC p.Q373Kfs*82 1.087 0.012 0.022
  chr12:122716178 rs373069919 C > T missense c.560G > A p.R187Q 1.087 0.012 0.022 Benign
  1. ^Not detected in EVS; therefore, used "# of EA Samples Covered"