Table 2.

Variant table

Gene	Variant	Chromosome	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect (substitution, deletion, etc.)	dbSNP/dbVar ID	Allele registry ID	ClinVar variation ID	Genotype (heterozygous/homozygous)
BARD1	c.73G>C p.Ala25Pro	2	NM_000465	NP_000456	Missense	Substitution	rL751646468	CA333878	185,506	Heterozygous
BARD1	c.1833dupT p.Asp612Terfs	2	NM_000465	NP_000456	Nonsense	Duplication	rs1553614963	CA658796163	530,030	Heterozygous
BARD1	c.2099delG p.Gly700Alafs	2	NM_000465	NP_000456	Nonsense	Deletion	rs1553612184	CA658796159	530,114	Heterozygous
BARD1	c.1217G>A p.Arg406Gln	2	NM_000465	NP_000456	Missense	Substitution	rs587780014	CA287510	127,713	Heterozygous
BARD1	c.1918C>A p.Leu640Ile	2	NM_000465	NP_000456	Missense	Substitution	rs1553612535	CA350451296	530,056	Heterozygous
BARD1	c.1670G>C p.Cys557Ser	2	NM_000465	NP_000456	Missense	Substitution	rs28997576	CA250552	8045	Heterozygous