| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80129228T>G | CA224273 | BCKDHB | c.342T>G (p.Tyr114Ter) n.256T>G c.132T>G (p.Tyr44Ter) n.426T>G n.372T>G n.365T>G | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 6 | g.80129228T>C | CA451073079 | BCKDHB | c.342T>C (p.Tyr114=) n.256T>C c.132T>C (p.Tyr44=) n.426T>C n.372T>C n.365T>C | dbSNP gnomAD v2 gnomAD v4 |