| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168906G>A | CA224304 | BCKDHB | c.509G>A (p.Arg170His) c.299G>A (p.Arg100His) n.593G>A n.539G>A n.532G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168906G>C | CA224306 | BCKDHB | c.509G>C (p.Arg170Pro) c.299G>C (p.Arg100Pro) n.593G>C n.539G>C n.532G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |