| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80200990C>G | CA3902760 | BCKDHB | c.799C>G (p.Gln267Glu) c.589C>G (p.Gln197Glu) n.977C>G n.829C>G n.916C>G | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.80200990C>T | CA274241 | BCKDHB | c.799C>T (p.Gln267Ter) c.589C>T (p.Gln197Ter) n.977C>T n.829C>T n.916C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80200990C= | CA1640952058 | BCKDHB | c.799C= (p.Gln267=) c.589C= (p.Gln197=) n.977C= n.829C= n.916C= | dbSNP |