| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168884G>T | CA16041095 | BCKDHB | c.487G>T (p.Glu163Ter) c.277G>T (p.Glu93Ter) n.571G>T n.517G>T n.510G>T | ClinVar dbSNP gnomAD v4 |
| 6 | g.80168884G= | CA1640937739 | BCKDHB | c.487G= (p.Glu163=) c.277G= (p.Glu93=) n.571G= n.517G= n.510G= | dbSNP |