| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422309C>G | CA115521 | BCKDHA | c.792C>G (p.Cys264Trp) c.726C>G (p.Cys242Trp) n.421C>G c.894C>G (p.Cys298Trp) c.705C>G (p.Cys235Trp) n.420C>G | ClinVar dbSNP gnomAD v4 |
| 19 | g.41422309C= | CA2336459053 | BCKDHA | c.792C= (p.Cys264=) c.726C= (p.Cys242=) n.421C= c.894C= (p.Cys298=) c.705C= (p.Cys235=) n.420C= | dbSNP |