Table 3.

Rare functional variants identified in selected patients.

Subject	Genetic ancestry″	Genetic dataset&	Gene	Variant (amino acid position)	Variant (chromosomal position)	gnomad MAF21±	Polyphen Humdiv Prediction22
5	Eur	Chip	ABCB11	E297G	2–169847329-T-C	0.04%	Probably damaging
7	Eur	Chip	ABCB11	I206V	2–169850388-T-C	0.00%	Benign
11	Eur	WGS	ATP8B1	D70N	18–55373793-C-T	0.44%	Probably damaging
13	Eur	WGS	ATP8B1	N45T	18–55398906-T-G	0.75%	Possibly damaging
18	Eur	WGS	ABCB4	R590Q	7–87060844-C-T	0.68%	Probably damaging
30	Eur	WGS	ATP8B1	D70N	18–55373793-C-T	0.44%	Probably damaging
39	Eur	Chip	ABCB11	E297G	2–169847329-T-C	0.04%	Probably damaging
41	AA	WGS	ABCB11	V1112I	2–169787252-C-T	0.02%	Probably damaging

^″Eur indicates European, AA indicates African American;

^&Chip indicates Illumina HumanExome chip, WGS indicates whole-genome sequencing;

^±MAF is reported for non-Finnish Europeans for all cells except for the variant found in an African American patient, where the MAF reported is for Africans