| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19358920C>T | CA121214 | PDHA1 | c.925C>T (p.Arg309Cys) c.*596C>T (n.*596C>T) c.988C>T (p.Arg330Cys) c.1018C>T (p.Arg340Cys) n.699C>T c.*236C>T (n.*236C>T) c.*359C>T (n.*359C>T) c.904C>T (p.Arg302Cys) c.61C>T (p.Arg21Cys) n.343C>T n.332C>T c.811C>T (p.Arg271Cys) c.1039C>T (p.Arg347Cys) c.946C>T (p.Arg316Cys) | ClinVar dbSNP gnomAD v4 |
| X | g.19358920C= | CA2418225218 | PDHA1 | c.925C= (p.Arg309=) c.*596C= (n.*596C=) c.988C= (p.Arg330=) c.1018C= (p.Arg340=) n.699C= c.*236C= (n.*236C=) c.*359C= (n.*359C=) c.904C= (p.Arg302=) c.61C= (p.Arg21=) n.343C= n.332C= c.811C= (p.Arg271=) c.1039C= (p.Arg347=) c.946C= (p.Arg316=) | dbSNP |
| X | g.19358920C>A | CA412396023 | PDHA1 | c.925C>A (p.Arg309Ser) c.*596C>A (n.*596C>A) c.988C>A (p.Arg330Ser) c.1018C>A (p.Arg340Ser) n.699C>A c.*236C>A (n.*236C>A) c.*359C>A (n.*359C>A) c.904C>A (p.Arg302Ser) c.61C>A (p.Arg21Ser) n.343C>A n.332C>A c.811C>A (p.Arg271Ser) c.1039C>A (p.Arg347Ser) c.946C>A (p.Arg316Ser) | dbSNP gnomAD v4 |