| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80129188G>A | CA224266 | BCKDHB | c.302G>A (p.Gly101Asp) n.216G>A c.92G>A (p.Gly31Asp) n.386G>A n.332G>A n.325G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80129188G>T | CA364659190 | BCKDHB | c.302G>T (p.Gly101Val) n.216G>T c.92G>T (p.Gly31Val) n.386G>T n.332G>T n.325G>T | dbSNP gnomAD v4 |
| 6 | g.80129188G= | CA1640919491 | BCKDHB | c.302G= (p.Gly101=) n.216G= c.92G= (p.Gly31=) n.386G= n.332G= n.325G= | dbSNP |
| 6 | g.80129188G>C | CA364659189 | BCKDHB | c.302G>C (p.Gly101Ala) n.216G>C c.92G>C (p.Gly31Ala) n.386G>C n.332G>C n.325G>C | dbSNP gnomAD v4 |