| 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 |
| X | g.19355713C>A | CA515486095 | PDHA1 | c.808C>A (p.Arg270=) c.*479C>A (n.*479C>A) c.871C>A (p.Arg291=) c.901C>A (p.Arg301=) n.582C>A c.*119C>A (n.*119C>A) c.*242C>A (n.*242C>A) c.787C>A (p.Arg263=) c.-57C>A (n.-57C>A) n.215C>A c.694C>A (p.Arg232=) c.922C>A (p.Arg308=) c.829C>A (p.Arg277=) | dbSNP gnomAD v4 |
| X | g.19355713C= | CA2418223749 | PDHA1 | c.808C= (p.Arg270=) c.*479C= (n.*479C=) c.871C= (p.Arg291=) c.901C= (p.Arg301=) n.582C= c.*119C= (n.*119C=) c.*242C= (n.*242C=) c.787C= (p.Arg263=) c.-57C= (n.-57C=) n.215C= c.694C= (p.Arg232=) c.922C= (p.Arg308=) c.829C= (p.Arg277=) | dbSNP |