| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.41422692del | CA221229 | BCKDHA | c.917del (p.Val306AspfsTer24) c.851del (p.Val284AspfsTer24) n.546del c.1019del (p.Val340AspfsTer24) c.830del (p.Val277AspfsTer24) n.545del c.917del (p.Val306AspfsTer28) c.914del (p.Val305AspfsTer24) | ClinVar dbSNP |
| 19 | g.41422692T= | CA3233696187 | BCKDHA | c.917T= (p.Val306=) c.851T= (p.Val284=) n.546T= c.1019T= (p.Val340=) c.830T= (p.Val277=) n.545T= c.914T= (p.Val305=) | dbSNP |