| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359613G>T | CA10605241 | PDHA1 | c.1154G>T (p.Arg385Leu) c.*825G>T (n.*825G>T) c.1217G>T (p.Arg406Leu) c.1247G>T (p.Arg416Leu) n.928G>T c.*465G>T (n.*465G>T) c.*588G>T (n.*588G>T) c.1133G>T (p.Arg378Leu) c.290G>T (p.Arg97Leu) n.572G>T c.1040G>T (p.Arg347Leu) c.1268G>T (p.Arg423Leu) c.1175G>T (p.Arg392Leu) | ClinVar dbSNP |
| X | g.19359613G>A | CA121205 | PDHA1 | c.1154G>A (p.Arg385His) c.*825G>A (n.*825G>A) c.1217G>A (p.Arg406His) c.1247G>A (p.Arg416His) n.928G>A c.*465G>A (n.*465G>A) c.*588G>A (n.*588G>A) c.1133G>A (p.Arg378His) c.290G>A (p.Arg97His) n.572G>A c.1040G>A (p.Arg347His) c.1268G>A (p.Arg423His) c.1175G>A (p.Arg392His) | ClinVar dbSNP ExAC |