| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359612C>T | CA323094 | PDHA1 | c.1153C>T (p.Arg385Cys) c.*824C>T (n.*824C>T) c.1216C>T (p.Arg406Cys) c.1246C>T (p.Arg416Cys) n.927C>T c.*464C>T (n.*464C>T) c.*587C>T (n.*587C>T) c.1132C>T (p.Arg378Cys) c.289C>T (p.Arg97Cys) n.571C>T c.1039C>T (p.Arg347Cys) c.1267C>T (p.Arg423Cys) c.1174C>T (p.Arg392Cys) | ClinVar dbSNP COSMIC COSMIC COSMIC |
| X | g.19359612C= | CA2418225607 | PDHA1 | c.1153C= (p.Arg385=) c.*824C= (n.*824C=) c.1216C= (p.Arg406=) c.1246C= (p.Arg416=) n.927C= c.*464C= (n.*464C=) c.*587C= (n.*587C=) c.1132C= (p.Arg378=) c.289C= (p.Arg97=) n.571C= c.1039C= (p.Arg347=) c.1267C= (p.Arg423=) c.1174C= (p.Arg392=) | dbSNP |