| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19350033C>T | CA320653 | PDHA1 | c.214C>T (p.Arg72Cys) c.298C>T (p.Arg100Cys) c.328C>T (p.Arg110Cys) n.316C>T | ClinVar dbSNP |
| X | g.19350033C= | CA2418221697 | PDHA1 | c.214C= (p.Arg72=) c.298C= (p.Arg100=) c.328C= (p.Arg110=) n.316C= | dbSNP |