| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168905C>T | CA224301 | BCKDHB | c.508C>T (p.Arg170Cys) c.298C>T (p.Arg100Cys) n.592C>T n.538C>T n.531C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC |
| 6 | g.80168905C>A | CA224295 | BCKDHB | c.508C>A (p.Arg170Ser) c.298C>A (p.Arg100Ser) n.592C>A n.538C>A n.531C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.80168905C>G | CA224298 | BCKDHB | c.508C>G (p.Arg170Gly) c.298C>G (p.Arg100Gly) n.592C>G n.538C>G n.531C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |