| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.43877591T>G | CA253368 | ABCG8 | c.1787T>G (p.Leu596Arg) c.1784T>G (p.Leu595Arg) c.1799T>G (p.Leu600Arg) c.1796T>G (p.Leu599Arg) c.1571T>G (p.Leu524Arg) n.2289T>G n.2303T>G | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.43877591T>A | CA346670808 | ABCG8 | c.1787T>A (p.Leu596Gln) c.1784T>A (p.Leu595Gln) c.1799T>A (p.Leu600Gln) c.1796T>A (p.Leu599Gln) c.1571T>A (p.Leu524Gln) n.2289T>A n.2303T>A | dbSNP gnomAD v4 |
| 2 | g.43877591T= | CA2493965017 | ABCG8 | c.1787T= (p.Leu596=) c.1784T= (p.Leu595=) c.1799T= (p.Leu600=) c.1796T= (p.Leu599=) c.1571T= (p.Leu524=) n.2289T= n.2303T= | dbSNP |