Table 2.
Volunteers | All variants in volunteers with raised BA and diagnosis of ICP | Highest BA (umol/L) | |||
---|---|---|---|---|---|
Gene | Variants | Zygosity | Type | ||
3 | ABCB4 | G1254S/G1261S | het | Non-synonymous | 80.1 |
3 | ABCB11 | N591S | het | Non-synonymous | |
4 | ABCB4 | P1050S | het | Non-synonymous | 53 |
5 | TJP2 | Q105K | hom | Non-synonymous | 15 |
6 | ABCB11 | N591S | het | Non-synonymous | 17 |
13 | TJP2 | Q105K | het | Non-synonymous | 25 |
15 | ATP8B1 | R384H | het | Non-synonymous | 31.6 |
15 | TJP2 | Q105K | hom | Non-synonymous | |
18 | ABCB11 | N591S | het | Non-synonymous | 115 |
18 | TJP2 | R21H | het | Non-synonymous | |
20 | ABCB11 | N591S | het | Non-synonymous | 18 |
20 | NH1R4 | M173T | het | Non-synonymous | |
21 | ABCB11 | M677V | het | Non-synonymous | 14 |
21 | NH1R4 | N358H | het | Non-synonymous | |
22 | ABCB11 | N591S | het | Non-synonymous | 14 |
25 | ABCB4 | S99x | het | Frameshift | 55 |
26 | ABCB11 | V284A | het | Non-synonymous | 35 |
26 | ABCB4 | N510S | het | Non-synonymous | |
31 | ABCB4 | T175A | het | Non-synonymous | 32 |
32 | ABCB11 | D1284N | het | Non-synonymous | |
32 | ABCB11 | N591S | het | Non-synonymous | |
38 | ABCB11 | N591S | het | Non-synonymous | 45.2 |
TSBA total serum bile acid concentrations, ICP intrahepatic cholestasis of pregnancy.