Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.80168944C>T | CA224315 | BCKDHB | c.547C>T (p.Arg183Trp) c.337C>T (p.Arg113Trp) n.631C>T n.577C>T n.570C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.80168944C>G | CA3902649 | BCKDHB | c.547C>G (p.Arg183Gly) c.337C>G (p.Arg113Gly) n.631C>G n.577C>G n.570C>G | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |