| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422353A>G | CA9461267 | BCKDHA | c.836A>G (p.Tyr279Cys) c.770A>G (p.Tyr257Cys) n.465A>G c.938A>G (p.Tyr313Cys) c.749A>G (p.Tyr250Cys) n.464A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422353A= | CA2336459073 | BCKDHA | c.836A= (p.Tyr279=) c.770A= (p.Tyr257=) n.465A= c.938A= (p.Tyr313=) c.749A= (p.Tyr250=) n.464A= | dbSNP |