| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24503350G>A | CA16604920 | ALDH5A1 | c.526G>A (p.Gly176Arg) c.289G>A (p.Gly97Arg) c.444G>A c.447G>A n.1286G>A c.442G>A (p.Gly148Arg) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24503350G>C | CA362969573 | ALDH5A1 | c.526G>C (p.Gly176Arg) c.289G>C (p.Gly97Arg) c.444G>C c.447G>C n.1286G>C c.442G>C (p.Gly148Arg) | dbSNP gnomAD v4 |
| 6 | g.24503350G= | CA1616510348 | ALDH5A1 | c.526G= (p.Gly176=) c.289G= (p.Gly97=) c.444G= c.447G= n.1286G= c.442G= (p.Gly148=) | dbSNP |