Identification of two novel pathogenic variants of the NR1H4 gene in intrahepatic cholestasis of pregnancy patients

Table 3 Screening for mutations in the NR1H4 gene in 197 pregnant women with ICP disease

Exon	Patient	SNP	Chr	Position	Alleles	Protein change	SIFT	PolyPhen2	MAF in controls	1000G_ALL	ExAC	ChinaMAP	P¹	P²	P³
Exon2	ICP127	Novel-1	12	100904880	C/T	Ser145Phe	0 (D)	0.999 (D)	0/(1029*2)	Not present	Not present	0	–	–	0.018
Exon3	ICP53	Novel-2	12	100926313	A/T	Met185Leu	0.005 (D)	0.981 (D)	0/(1029*2)	Not present	Not present	0	–	–	0.018
Exon4	ICP12	rs180957965	12	100928727	G/T	Ala230Ser	0.815 (T)	0.015 (T)	0/(1029*2)	0.00080	0.00018	0.0029	0.17	0.036	0.44
Exon5	ICP1,69,107	rs147030757	12	100930352	C/T	Asn275Asn	–	–	0/(1029*2)	0.001	0.00022	0.0057	0.0027	1.63e−05	0.11

Significant differences were underlined
P¹ the significance of differences in frequencies between 197 ICP patients and 1000G_ALL, P² the significance of differences in frequencies between 197 ICP patients and ExAC, P³ the significance of differences in frequencies between 197 ICP patients and ChinaMAP

ISSN: 1755-8794