Table 3.

Assessing the pathogenicity of mutations identified using bioinformatics tools and ACMG Standards

Family ID	Gene	Position (hg38) HGVSc/HGVSp (RefSeq transcript)	Variant type (Exon no./ Total exon no.)	in silico prediction	ACMG classification/ inheritance
HS03	SLC4A1	chr17:44251320 NM_000342.3:c.2494C>T NP_000333.1:p.Arg832Cys	Homo Missense variant Exon19/20	SIFT: deleterious PolyPhen: probably damaging Condle: deleterious loF tool: probably damaging GERP: 4.19	VUS, AR
	SPTA1	chr1:158681592 NM_003126.2:c.466C>T NP_003117.2:p.Arg156Trp	Hetero Missense variant Exon4/52	SIFT: deleterious PolyPhen: possibly damaging Condle: deleterious loF tool: benign GERP: 3.25	VUS, AD

AD, autosomal dominant, AR, autosomal recessive, VUS, Variant of uncertain significance