| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80167744C>T | CA3902601 | BCKDHB | c.410C>T (p.Ala137Val) c.200C>T (p.Ala67Val) n.494C>T n.440C>T n.433C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 6 | g.80167744C>A | CA364660495 | BCKDHB | c.410C>A (p.Ala137Glu) c.200C>A (p.Ala67Glu) n.494C>A n.440C>A n.433C>A | ClinVar dbSNP gnomAD v4 |