Clinical Applicability of Whole-Exome Sequencing Exemplified by a Study in Young Adults with the Advanced Cryptogenic Cholestatic Liver Diseases

Table 3

Variants in genes connected with the following: (A) cholestatic liver diseases, (B) bile acid metabolism, (C) bile acid transport and secretion, and (D) other genes of significance, including genes connected with other liver diseases and lipid metabolism.

Family	A	B	C	D
Number 1				CYP2C19, c.681G>A,; CYP2C9 p.Ile359Leu,; NAT2, p.Ile114Thr; NAT2, p.Arg197Gln
Number 2	ATP8B1 p.Asn45Thr,; 0|1 in patient and father			KRT8, p.Ile91Val
Number 3	ATP8B1p.Ile349Thr,; 0|1 in patient and mother
Number 4
Number 5		AKR1C1, p.Arg170His; 0|1 in patient; RXRA, p.Pro22Leu; 0|1 in patient and mother
Number 6	ABCB11 p.Ser25Ter; 0|1 in patient and father		ABCC4 p.Lys304Asn; 0|1 in patient and mother	PEMT p.Arg226Trp