| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19359505T>G | CA16608807 | PDHA1 | c.1046T>G (p.Val349Gly) c.*717T>G (n.*717T>G) c.1109T>G (p.Val370Gly) c.1139T>G (p.Val380Gly) n.820T>G c.*357T>G (n.*357T>G) c.*480T>G (n.*480T>G) c.1025T>G (p.Val342Gly) c.182T>G (p.Val61Gly) n.464T>G c.932T>G (p.Val311Gly) c.1160T>G (p.Val387Gly) c.1067T>G (p.Val356Gly) | ClinVar dbSNP gnomAD v4 |
| X | g.19359505T= | CA2418225564 | PDHA1 | c.1046T= (p.Val349=) c.*717T= (n.*717T=) c.1109T= (p.Val370=) c.1139T= (p.Val380=) n.820T= c.*357T= (n.*357T=) c.*480T= (n.*480T=) c.1025T= (p.Val342=) c.182T= (p.Val61=) n.464T= c.932T= (p.Val311=) c.1160T= (p.Val387=) c.1067T= (p.Val356=) | dbSNP |