| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.80168906G>A | CA224304 | BCKDHB | c.509G>A (p.Arg170His) c.299G>A (p.Arg100His) n.593G>A n.539G>A n.532G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168906G>C | CA224306 | BCKDHB | c.509G>C (p.Arg170Pro) c.299G>C (p.Arg100Pro) n.593G>C n.539G>C n.532G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.80168906G= | CA1640937755 | BCKDHB | c.509G= (p.Arg170=) c.299G= (p.Arg100=) n.593G= n.539G= n.532G= | dbSNP |
| 6 | g.80168906G>T | CA364657752 | BCKDHB | c.509G>T (p.Arg170Leu) c.299G>T (p.Arg100Leu) n.593G>T n.539G>T n.532G>T | dbSNP gnomAD v4 |