| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.58010689T>C | CA7584087 | ALDH1A2 | c.453A>G (p.Ala151=) c.*427A>G (n.*427A>G) c.390A>G (p.Ala130=) c.366A>G (p.Ala122=) n.318+3169A>G c.165A>G (p.Ala55=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.58010689T= | CA2180114068 | ALDH1A2 | c.453A= (p.Ala151=) c.*427A= (n.*427A=) c.390A= (p.Ala130=) c.366A= (p.Ala122=) n.318+3169A= c.165A= (p.Ala55=) | dbSNP |