Table 2.

Genetic variants of ABCB4, ABCB11, ATP8B1 and TJP2

Gene	Patient	Rs#	Chr	Position, bp	Alleles	Protein change	SIFT	MAF in 151 ICP patients	MAF in controls	MAF in 1000G	MAF in ExAC
ABCB4	ICP133,135	Novel	7	87,073,053	T/C	Lys386Glu	0.002 (D)	0.0066 [2/(151*2)]	0 [0/(1029*2)]	NPa	NP
	ICP154	Novel	7	87,069,134	C/T	Gly527Glu	0.0 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP21	Novel	7	87,053,310	C/T	Trp708Ter	—	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP97	rs1202754797	7	87,081,001	G/A	Leu216Phe	0.001 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP153	rs201502889	7	87,079,314	G/A	Ala268Val	0.001 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	0.0002	0.001
ABCB11	ICP2	Novel	2	169,826,599	G/T	Leu589Met	0.0 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP118	Novel	2	169,826,057	T/G	Gln605Pro	0.006 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP115	Novel	2	169,783,704	G/A	Gln1194Ter	—	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP109	rs1174631566	2	169,787,197	T/C	Tyr1130Cys	0.0 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP113	rs376216286	2	169,820,808	G/A	Arg696Trp	0.004 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
ATP8B1	ICP134	rs150268416	18	55,399,014	G/A	Thr9Met	0.003 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP85	rs781746896	18	55,355,543	C/T	Gly473Arg	0.0 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP43	rs752045131	18	55,338,750	G/A	Arg628Trp	0.001 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
TJP2	ICP75	Novel	9	71,835,934	G/T	Arg189Ser	0.005 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP26	rs144396411	9	71,833,267	G/A	Ala143Thr	0.004 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	0.00059	0.003
	ICP7	rs189916909	9	71,836,337	C/T	Arg324Trp	0.014 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	0.000399	0.001
	ICP132	rs760622082	9	71,851,917	C/T	Arg713Trp	0 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	NP	NP
	ICP96	rs201366118	9	71,851,954	G/A	Gly725Glu	0.007 (D)	0.0033 [1/(151*2)]	0 [0/(1029*2)]	0.0002	0.001

^aNP Not present in the database