| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41424468A>T | CA279886 | BCKDHA | c.1198A>T (p.Lys400Ter) c.1207A>T (p.Lys403Ter) c.1300A>T (p.Lys434Ter) c.62-34A>T c.922+1771A>T (n.922+1771A>T) c.1195A>T (p.Lys399Ter) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41424468A>G | CA406015277 | BCKDHA | c.1198A>G (p.Lys400Glu) c.1207A>G (p.Lys403Glu) c.1300A>G (p.Lys434Glu) c.62-34A>G c.922+1771A>G (n.922+1771A>G) c.1195A>G (p.Lys399Glu) | dbSNP gnomAD v4 |
| 19 | g.41424468A= | CA2336460032 | BCKDHA | c.1198A= (p.Lys400=) c.1207A= (p.Lys403=) c.1300A= (p.Lys434=) c.62-34A= c.922+1771A= (n.922+1771A=) c.1195A= (p.Lys399=) | dbSNP |