
| Genename | Variants |
|---|---|
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144689289C>T,c.206G>A,p.R69Q |
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144689146C>T,c.349G>A,p.V117M |
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144688744C>T,c.478G>A,p.E160K |
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144688736C>G,c.486G>C,p.K162N |
| PYCRL(NM_023078,pyrroline-5-carboxylate reductase-like,286aa) | g.8:144688288C>T,c.622G>A,p.V208I |
| PYCR2(NM_013328,pyrroline-5-carboxylate reductase family, member 2,320aa) | g.1:226110029C>T,c.193G>A,p.V65I |
| PYCR2(NM_013328,pyrroline-5-carboxylate reductase family, member 2,320aa) | g.1:226109278T>C,c.607A>G,p.I203V |
| PYCR2(NM_013328,pyrroline-5-carboxylate reductase family, member 2,320aa) | g.1:226108277C>T,c.841G>A,p.A281T |
| PYCR2(NM_013328,pyrroline-5-carboxylate reductase family, member 2,320aa) | g.1:226108177G>C,c.941C>G,p.A314G |
| PYCR1(NM_006907,pyrroline-5-carboxylate reductase 1,319aa) | g.17:79893278C>T,c.253G>A,p.D85N |
| PYCR1(NM_006907,pyrroline-5-carboxylate reductase 1,319aa) | g.17:79893013G>A,c.329C>T,p.A110V |
| PYCR1(NM_006907,pyrroline-5-carboxylate reductase 1,319aa) | g.17:79893008G>A,c.334C>T,p.R112W |
| PYCR1(NM_006907,pyrroline-5-carboxylate reductase 1,319aa) | g.17:79892956C>T,c.386G>A,p.R129Q |
| PYCR1(NM_006907,pyrroline-5-carboxylate reductase 1,319aa) | g.17:79892230C>T,c.769G>A,p.A257T |
| PYCARD(NM_013258,PYD and CARD domain containing,195aa) | g.16:31213040C>T,c.454G>A,p.E152K |
| PXT1(NM_152990,peroxisomal, testis specific 1,134aa) | g.6:36393816A>G,c.44T>C,p.V15A |
| PXN(NM_001243756,paxillin,605aa) | g.12:120661977T>C,c.217A>G,p.S73G |
| PXN(NM_001243756,paxillin,605aa) | g.12:120660780C>T,c.379G>A,p.A127T |
| PXN(NM_001243756,paxillin,605aa) | g.12:120660762C>T,c.397G>A,p.V133I |
| PXN(NM_001243756,paxillin,605aa) | g.12:120660505T>C,c.542A>G,p.Y181C |
| PXN(NM_001243756,paxillin,605aa) | g.12:120652732C>T,c.1216G>A,p.G406R |
| PXN(NM_001243756,paxillin,605aa) | g.12:120652725C>T,c.1223G>A,p.R408Q |
| PXN(NM_001243756,paxillin,605aa) | g.12:120652642C>T,c.1306G>A,p.G436S |
| PXN(NM_001243756,paxillin,605aa) | g.12:120651761G>A,c.1435C>T,p.R479C |
| PXMP4(NM_007238,peroxisomal membrane protein 4, 24kDa,212aa) | g.20:32308007C>T,c.7G>A,p.A3T |
| PXMP4(NM_007238,peroxisomal membrane protein 4, 24kDa,212aa) | g.20:32295716C>G,c.435G>C,p.K145N |
| PXMP4(NM_007238,peroxisomal membrane protein 4, 24kDa,212aa) | g.20:32295541C>T,c.610G>A,p.V204I |
| PXMP4(NM_007238,peroxisomal membrane protein 4, 24kDa,212aa) | g.20:32295525C>T,c.626G>A,p.R209H |