| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424496T>G | CA115510 | BCKDHA | c.1226T>G (p.Phe409Cys) c.1235T>G (p.Phe412Cys) c.1328T>G (p.Phe443Cys) c.62-6T>G c.922+1799T>G (n.922+1799T>G) c.1223T>G (p.Phe408Cys) | ClinVar dbSNP |
| 19 | g.41424496T= | CA2336460044 | BCKDHA | c.1226T= (p.Phe409=) c.1235T= (p.Phe412=) c.1328T= (p.Phe443=) c.62-6T= c.922+1799T= (n.922+1799T=) c.1223T= (p.Phe408=) | dbSNP |