| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422278C>G | CA406012894 | BCKDHA | c.761C>G (p.Ala254Gly) c.695C>G (p.Ala232Gly) n.390C>G c.863C>G (p.Ala288Gly) c.674C>G (p.Ala225Gly) n.389C>G | dbSNP gnomAD v3 gnomAD v4 |
| 19 | g.41422278C>A | CA221213 | BCKDHA | c.761C>A (p.Ala254Asp) c.695C>A (p.Ala232Asp) n.390C>A c.863C>A (p.Ala288Asp) c.674C>A (p.Ala225Asp) n.389C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |