| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24528049G>A | CA251762 | ALDH5A1 | c.1226G>A (p.Gly409Asp) n.341G>A c.845G>A (p.Gly282Asp) c.1189G>A c.1265G>A (p.Gly422Asp) c.1142G>A (p.Gly381Asp) c.1082G>A (p.Gly361Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24528049G= | CA1616534947 | ALDH5A1 | c.1226G= (p.Gly409=) n.341G= c.845G= (p.Gly282=) c.1189G= c.1265G= (p.Gly422=) c.1142G= (p.Gly381=) c.1082G= (p.Gly361=) | dbSNP |
| 6 | g.24528049G>T | CA362978226 | ALDH5A1 | c.1226G>T (p.Gly409Val) n.341G>T c.845G>T (p.Gly282Val) c.1189G>T c.1265G>T (p.Gly422Val) c.1142G>T (p.Gly381Val) c.1082G>T (p.Gly361Val) | dbSNP gnomAD v4 |