| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41410665C>A | CA9461009 | BCKDHA | c.137C>A (p.Ser46Ter) c.71C>A (p.Ser24Ter) n.157C>A c.239C>A (p.Ser80Ter) n.379C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41410665C>G | CA406004592 | BCKDHA | c.137C>G (p.Ser46Ter) c.71C>G (p.Ser24Ter) n.157C>G c.239C>G (p.Ser80Ter) n.379C>G | dbSNP |
| 19 | g.41410665C= | CA2336453769 | BCKDHA | c.137C= (p.Ser46=) c.71C= (p.Ser24=) n.157C= c.239C= (p.Ser80=) n.379C= | dbSNP |