| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.19353114G>A | CA325123 | PDHA1 | c.472G>A (p.Gly158Arg) c.451G>A (p.Gly151Arg) c.535G>A (p.Gly179Arg) c.565G>A (p.Gly189Arg) c.418+1707G>A (n.418+1707G>A) c.419-1377G>A (n.419-1377G>A) n.286G>A c.586G>A (p.Gly196Arg) | dbSNP |
| X | g.19353114G= | CA2418222788 | PDHA1 | c.472G= (p.Gly158=) c.451G= (p.Gly151=) c.535G= (p.Gly179=) c.565G= (p.Gly189=) c.418+1707G= (n.418+1707G=) c.419-1377G= (n.419-1377G=) n.286G= c.586G= (p.Gly196=) | dbSNP |