| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41411004C>T | CA221198 | BCKDHA | c.370C>T (p.Arg124Trp) c.304C>T (p.Arg102Trp) n.496C>T c.472C>T (p.Arg158Trp) c.177C>T c.288+188C>T (n.288+188C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41411004C= | CA2336453951 | BCKDHA | c.370C= (p.Arg124=) c.304C= (p.Arg102=) n.496C= c.472C= (p.Arg158=) c.177C= c.288+188C= (n.288+188C=) | dbSNP |