| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168944C>T | CA224315 | BCKDHB | c.547C>T (p.Arg183Trp) c.337C>T (p.Arg113Trp) n.631C>T n.577C>T n.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168944C>G | CA3902649 | BCKDHB | c.547C>G (p.Arg183Gly) c.337C>G (p.Arg113Gly) n.631C>G n.577C>G n.570C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168944C= | CA1640937776 | BCKDHB | c.547C= (p.Arg183=) c.337C= (p.Arg113=) n.631C= n.577C= n.570C= | dbSNP |
| 6 | g.80168944C>A | CA451072828 | BCKDHB | c.547C>A (p.Arg183=) c.337C>A (p.Arg113=) n.631C>A n.577C>A n.570C>A | dbSNP gnomAD v4 |