| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.168972025C>T | CA1951559 | ABCB11 | c.1460G>A (p.Arg487His) c.8G>A (p.Arg3His) c.1502G>A (p.Arg501His) c.1562G>A (p.Arg521His) c.-356G>A (n.-356G>A) c.791G>A (p.Arg264His) c.245G>A (p.Arg82His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.168972025C>G | CA349116096 | ABCB11 | c.1460G>C (p.Arg487Pro) c.8G>C (p.Arg3Pro) c.1502G>C (p.Arg501Pro) c.1562G>C (p.Arg521Pro) c.-356G>C (n.-356G>C) c.791G>C (p.Arg264Pro) c.245G>C (p.Arg82Pro) | ClinVar dbSNP |