| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19355393A>C | CA121228 | PDHA1 | c.669A>C (p.Leu223Phe) c.*340A>C (n.*340A>C) c.732A>C (p.Leu244Phe) c.762A>C (p.Leu254Phe) n.443A>C c.463A>C (p.Thr155Pro) c.*103A>C (n.*103A>C) c.648A>C (p.Leu216Phe) n.483A>C n.76A>C c.555A>C (p.Leu185Phe) c.783A>C (p.Leu261Phe) c.690A>C (p.Leu230Phe) | ClinVar dbSNP |
| X | g.19355393A= | CA2418223600 | PDHA1 | c.669A= (p.Leu223=) c.*340A= (n.*340A=) c.732A= (p.Leu244=) c.762A= (p.Leu254=) n.443A= c.463A= (p.Thr155=) c.*103A= (n.*103A=) c.648A= (p.Leu216=) n.483A= n.76A= c.555A= (p.Leu185=) c.783A= (p.Leu261=) c.690A= (p.Leu230=) | dbSNP |