| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41419282C>T | CA221206 | BCKDHA | c.632C>T (p.Thr211Met) c.566C>T (p.Thr189Met) n.261C>T n.758C>T c.734C>T (p.Thr245Met) c.532C>T c.545C>T (p.Thr182Met) n.260C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41419282C= | CA2336457611 | BCKDHA | c.632C= (p.Thr211=) c.566C= (p.Thr189=) n.261C= n.758C= c.734C= (p.Thr245=) c.532C= c.545C= (p.Thr182=) n.260C= | dbSNP |