| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41423039G>A | CA221177 | BCKDHA | c.1037G>A (p.Arg346His) c.1046G>A (p.Arg349His) c.1139G>A (p.Arg380His) c.950G>A (p.Arg317His) c.922+342G>A (n.922+342G>A) c.1034G>A (p.Arg345His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 19 | g.41423039G= | CA2336459410 | BCKDHA | c.1037G= (p.Arg346=) c.1046G= (p.Arg349=) c.1139G= (p.Arg380=) c.950G= (p.Arg317=) c.922+342G= (n.922+342G=) c.1034G= (p.Arg345=) | dbSNP |