| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.24528057C>T | CA251759 | ALDH5A1 | c.1234C>T (p.Arg412Ter) n.349C>T c.853C>T (p.Arg285Ter) c.1197C>T c.1273C>T (p.Arg425Ter) c.1150C>T (p.Arg384Ter) c.1090C>T (p.Arg364Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.24528057C= | CA1616534948 | ALDH5A1 | c.1234C= (p.Arg412=) n.349C= c.853C= (p.Arg285=) c.1197C= c.1273C= (p.Arg425=) c.1150C= (p.Arg384=) c.1090C= (p.Arg364=) | dbSNP |