| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355713C>G | CA121213 | PDHA1 | c.808C>G (p.Arg270Gly) c.*479C>G (n.*479C>G) c.871C>G (p.Arg291Gly) c.901C>G (p.Arg301Gly) n.582C>G c.*119C>G (n.*119C>G) c.*242C>G (n.*242C>G) c.787C>G (p.Arg263Gly) c.-57C>G (n.-57C>G) n.215C>G c.694C>G (p.Arg232Gly) c.922C>G (p.Arg308Gly) c.829C>G (p.Arg277Gly) | ClinVar dbSNP |
| X | g.19355713C>T | CA412394772 | PDHA1 | c.808C>T (p.Arg270Ter) c.*479C>T (n.*479C>T) c.871C>T (p.Arg291Ter) c.901C>T (p.Arg301Ter) n.582C>T c.*119C>T (n.*119C>T) c.*242C>T (n.*242C>T) c.787C>T (p.Arg263Ter) c.-57C>T (n.-57C>T) n.215C>T c.694C>T (p.Arg232Ter) c.922C>T (p.Arg308Ter) c.829C>T (p.Arg277Ter) | ClinVar dbSNP |