Table 1.

Overall summary of mutational burden discovered in the Genes and Health cohort for all five gene candidates.

Gene	Overall summary of variants (n)
	ABCB4	ABCB11	ATP8B1	NR1H4	TJP2
NSV	68	77	50	22	83
After inclusion criteria
Total	41	48	31	9	37
Pathogenicity
LP	22	25	3	0	0
VUS	13	18	23	8	35
Benign	6	4	5	1	2
Phenotypes
ICP	5	5	1	2	3
GD	7	10	6		8
Other	1 (cholangiocarcinoma)		1 (cirrhosis), 1 (cirrhosis with secondary malignant neoplasm of liver and bile duct, and gallstone disease)

Inclusion criteria (< 5% MAF), NSV and at least any of the following: 1. Include all variants with a phenotype 2. Include all variants known in the literature 3. Include all variants with no GnomAD allele frequency but ELGH allele frequency 4. Include all variants with in silico prediction of 7.

GD, gallstone disease, ICP intrahepatic cholestasis of pregnancy, LP likely pathogenic, MAF minor allele frequency, NSV non-synonymous variants, VUS variant of unknown significance.