| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422262G>A | CA115515 | BCKDHA | c.745G>A (p.Gly249Ser) c.679G>A (p.Gly227Ser) n.374G>A c.847G>A (p.Gly283Ser) c.658G>A (p.Gly220Ser) n.373G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 19 | g.41422262G>T | CA406012858 | BCKDHA | c.745G>T (p.Gly249Cys) c.679G>T (p.Gly227Cys) n.374G>T c.847G>T (p.Gly283Cys) c.658G>T (p.Gly220Cys) n.373G>T | ClinVar dbSNP |
| 19 | g.41422262G= | CA2336459032 | BCKDHA | c.745G= (p.Gly249=) c.679G= (p.Gly227=) n.374G= c.847G= (p.Gly283=) c.658G= (p.Gly220=) n.373G= | dbSNP |