| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358926C>T | CA321113 | PDHA1 | c.931C>T (p.Arg311Ter) c.*602C>T (n.*602C>T) c.994C>T (p.Arg332Ter) c.1024C>T (p.Arg342Ter) n.705C>T c.*242C>T (n.*242C>T) c.*365C>T (n.*365C>T) c.910C>T (p.Arg304Ter) c.67C>T (p.Arg23Ter) n.349C>T n.338C>T c.817C>T (p.Arg273Ter) c.1045C>T (p.Arg349Ter) c.952C>T (p.Arg318Ter) | ClinVar dbSNP gnomAD v4 |
| X | g.19358926C= | CA2418225221 | PDHA1 | c.931C= (p.Arg311=) c.*602C= (n.*602C=) c.994C= (p.Arg332=) c.1024C= (p.Arg342=) n.705C= c.*242C= (n.*242C=) c.*365C= (n.*365C=) c.910C= (p.Arg304=) c.67C= (p.Arg23=) n.349C= n.338C= c.817C= (p.Arg273=) c.1045C= (p.Arg349=) c.952C= (p.Arg318=) | dbSNP |