| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422310C>T | CA115512 | BCKDHA | c.793C>T (p.Arg265Trp) c.727C>T (p.Arg243Trp) n.422C>T c.895C>T (p.Arg299Trp) c.706C>T (p.Arg236Trp) n.421C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422310C= | CA2336459054 | BCKDHA | c.793C= (p.Arg265=) c.727C= (p.Arg243=) n.422C= c.895C= (p.Arg299=) c.706C= (p.Arg236=) n.421C= | dbSNP |