| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43872294C>A | CA203669 | ABCG8 | c.1199C>A (p.Thr400Lys) c.1211C>A (p.Thr404Lys) c.1196C>A (p.Thr399Lys) c.1208C>A (p.Thr403Lys) c.983C>A (p.Thr328Lys) n.1701C>A n.1715C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43872294C>T | CA1637336 | ABCG8 | c.1199C>T (p.Thr400Met) c.1211C>T (p.Thr404Met) c.1196C>T (p.Thr399Met) c.1208C>T (p.Thr403Met) c.983C>T (p.Thr328Met) n.1701C>T n.1715C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.43872294C= | CA2493961940 | ABCG8 | c.1199C= (p.Thr400=) c.1211C= (p.Thr404=) c.1196C= (p.Thr399=) c.1208C= (p.Thr403=) c.983C= (p.Thr328=) n.1701C= n.1715C= | dbSNP |