| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24533701G>A | CA3656974 | ALDH5A1 | c.1597G>A (p.Gly533Arg) n.712G>A c.1216G>A (p.Gly406Arg) c.1560G>A c.1636G>A (p.Gly546Arg) c.1513G>A (p.Gly505Arg) n.363G>A c.1453G>A (p.Gly485Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24533701G>C | CA362967987 | ALDH5A1 | c.1597G>C (p.Gly533Arg) n.712G>C c.1216G>C (p.Gly406Arg) c.1560G>C c.1636G>C (p.Gly546Arg) c.1513G>C (p.Gly505Arg) n.363G>C c.1453G>C (p.Gly485Arg) | dbSNP |
| 6 | g.24533701G= | CA1616537313 | ALDH5A1 | c.1597G= (p.Gly533=) n.712G= c.1216G= (p.Gly406=) c.1560G= c.1636G= (p.Gly546=) c.1513G= (p.Gly505=) n.363G= c.1453G= (p.Gly485=) | dbSNP |