| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24504871G>A | CA251757 | ALDH5A1 | c.612G>A (p.Trp204Ter) c.375G>A (p.Trp125Ter) c.530G>A c.533G>A n.1372G>A c.528G>A (p.Trp176Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.24504871G>C | CA362969979 | ALDH5A1 | c.612G>C (p.Trp204Cys) c.375G>C (p.Trp125Cys) c.530G>C c.533G>C n.1372G>C c.528G>C (p.Trp176Cys) | dbSNP gnomAD v4 |