| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41423038C>T | CA221176 | BCKDHA | c.1036C>T (p.Arg346Cys) c.1045C>T (p.Arg349Cys) c.1138C>T (p.Arg380Cys) c.949C>T (p.Arg317Cys) c.922+341C>T (n.922+341C>T) c.1033C>T (p.Arg345Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41423038C= | CA2336459409 | BCKDHA | c.1036C= (p.Arg346=) c.1045C= (p.Arg349=) c.1138C= (p.Arg380=) c.949C= (p.Arg317=) c.922+341C= (n.922+341C=) c.1033C= (p.Arg345=) | dbSNP |