| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41414149G>A | CA354907 | BCKDHA | c.476G>A (p.Arg159Gln) c.410G>A (p.Arg137Gln) n.602G>A c.578G>A (p.Arg193Gln) c.283G>A c.389G>A (p.Arg130Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 19 | g.41414149G= | CA2336455371 | BCKDHA | c.476G= (p.Arg159=) c.410G= (p.Arg137=) n.602G= c.578G= (p.Arg193=) c.283G= c.389G= (p.Arg130=) | dbSNP |