| Genename | Variants |
|---|---|
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335373C>T,c.857C>T,p.T286M |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335313C>T,c.797C>T,p.T266M |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:335150C>T,c.745C>T,p.R249C |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334957G>A,c.620G>A,p.R207Q |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334920C>T,c.583C>T,p.Q195X |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334899G>A,c.562G>A,p.A188T |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334890G>A,c.553G>A,p.E185K |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334698G>A,c.446G>A,p.R149Q |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334685G>A,c.433G>A,p.E145K |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334569C>T,c.382C>T,p.R128C |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334543C>G,c.356C>G,p.T119R |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334534A>G,c.347A>G,p.E116G |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:334531C>T,c.344C>T,p.T115M |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:333339G>A,c.170G>A,p.R57Q |
| PDIA2(NM_006849,protein disulfide isomerase family A, member 2,525aa) | g.16:333284C>T,c.115C>T,p.P39S |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:35016550G>A,c.1337G>A,p.R446Q |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:35016546T>G,c.1333T>G,p.F445V |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:35016492G>A,c.1279G>A,p.E427K |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34999682G>C,c.976G>C,p.V326L |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34991758A>G,c.889A>G,p.T297A |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34991707G>A,c.838G>A,p.A280T |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34988311C>T,c.766C>T,p.P256S |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34988294C>T,c.749C>T,p.T250I |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34988219C>T,c.674C>T,p.T225M |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34981990G>A,c.566G>A,p.R189H |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34979123A>G,c.535A>G,p.T179A |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34978956G>A,c.368G>A,p.R123Q |
| PDHX(NM_003477,pyruvate dehydrogenase complex, component X,501aa) | g.11:34969112A>G,c.301A>G,p.T101A |