| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.111803962G>A | CA128085 | ALDH2 | c.1510G>A (p.Glu504Lys) c.1369G>A (p.Glu457Lys) c.*1386G>A (n.*1386G>A) c.441G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.111803962G= | CA2063461447 | ALDH2 | c.1510G= (p.Glu504=) c.1369G= (p.Glu457=) c.*1386G= (n.*1386G=) c.441G= | dbSNP |