| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424572C>A | CA221184 | BCKDHA | c.1302C>A (p.Tyr434Ter) c.1311C>A (p.Tyr437Ter) c.1404C>A (p.Tyr468Ter) c.132C>A c.922+1875C>A (n.922+1875C>A) c.1299C>A (p.Tyr433Ter) | ClinVar dbSNP |
| 19 | g.41424572C>T | CA9461423 | BCKDHA | c.1302C>T (p.Tyr434=) c.1311C>T (p.Tyr437=) c.1404C>T (p.Tyr468=) c.132C>T c.922+1875C>T (n.922+1875C>T) c.1299C>T (p.Tyr433=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |