| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168945G>C | CA121789 | BCKDHB | c.548G>C (p.Arg183Pro) c.338G>C (p.Arg113Pro) n.632G>C n.578G>C n.571G>C | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168945G>A | CA142284037 | BCKDHB | c.548G>A (p.Arg183Gln) c.338G>A (p.Arg113Gln) n.632G>A n.578G>A n.571G>A | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |