Subject / Defect
* / ABCG5 Exon 2
R50C / ABCG5
Exon 13
Q604E / ABCG8
Exon 1
D19H / ABCG8
Exon 2
Y54C / ABCG8
Exon 8
T400K / ABCG8
Exon 13
A632V
1 / L572P / RR / QE / DD / YC / TK / AA
2 / L572P / RR / QE / DD / YC / TK / AA
4 / Q442X / CC / QE / HH / YY / TK / AA
5 / Q442X / RC / QE / DH / YC / TK / AV
6 / H510D / RC / QQ / DH / YC / TT / AA
7 / Q442X / RC / QE / DH / YY / TK / AA
8 / L572P / RR / QE / DD / YC / TK / AV
9 / - / RR / QQ / DD / YY / TT / VV
10 / - / RC / EE / HH / YY / TT / AA
11 / - / RR / EE / DD / YY / TT / AA
12 / - / RC / EE / DH / YY / TT / AA
13 / - / RR / QQ / DD / YC / TT / AA
15 / - / RR / QQ / DD / YC / TK / AV
17 / - / RC / QE / DH / YY / TT / AA
18 / - / RR / QQ / DD / YC / TT / AA
20 / - / RR / QE / DD / YC / TK / AA
21 / - / RR / QQ / DD / YC / TT / AV
* Defects were in ABCG8 with exception of H510D, a defect in ABCG5. Four controls homozygous for common variants ABCG5 604EE or ABCG8 632VV (subgroup 2) are shaded.