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

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)
Gene	GRCh38 position	rs ID	Alleles	GVS function	cDNA change	Protein change	AHCC BC cases	EVS controls	p Value	Polyphen2 (Missense variants only)
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

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