| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424504G>A | CA221182 | BCKDHA | c.1234G>A (p.Val412Met) c.1243G>A (p.Val415Met) c.1336G>A (p.Val446Met) c.64G>A c.922+1807G>A (n.922+1807G>A) c.1231G>A (p.Val411Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424504G= | CA2336460049 | BCKDHA | c.1234G= (p.Val412=) c.1243G= (p.Val415=) c.1336G= (p.Val446=) c.64G= c.922+1807G= (n.922+1807G=) c.1231G= (p.Val411=) | dbSNP |