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