| 基因名 | 突变 |
|---|---|
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179593208G>T,c.563C>A,p.T188N |
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179576912C>T,c.760G>A,p.A254T |
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179533741C>T,c.991G>A,p.E331K |
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179529649A>C,c.1094T>G,p.F365C |
| PEX5L(NM_016559,peroxisomal biogenesis factor 5-like,626aa) | g.3:179526104T>C,c.1474A>G,p.R492G |
| PEX3(NM_003630,peroxisomal biogenesis factor 3,373aa) | g.6:143795969A>G,c.794A>G,p.N265S |
| PEX3(NM_003630,peroxisomal biogenesis factor 3,373aa) | g.6:143792536C>G,c.473C>G,p.P158R |
| PEX3(NM_003630,peroxisomal biogenesis factor 3,373aa) | g.6:143784092A>G,c.245A>G,p.Q82R |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77896146G>A,c.269C>T,p.S90F |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77896133T>A,c.282A>T,p.R94S |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77896111G>T,c.304C>A,p.Q102K |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77896109T>A,c.306A>T,p.Q102H |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77896042G>A,c.373C>T,p.R125X |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77895865A>G,c.550T>C,p.C184R |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77895682C>T,c.733G>A,p.A245T |
| PEX2(NM_001172086,peroxisomal biogenesis factor 2,305aa) | g.8:77895667A>G,c.748T>C,p.W250R |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18570834G>A,c.911G>A,p.R304H |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18567938C>T,c.728C>T,p.A243V |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18566402C>T,c.571C>T,p.R191W |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18566288C>G,c.457C>G,p.L153V |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18566240G>C,c.409G>C,p.V137L |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18562734T>C,c.325T>C,p.Y109H |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18561342A>G,c.200A>G,p.N67S |
| PEX26(NM_001127649,peroxisomal biogenesis factor 26,305aa) | g.22:18561272C>T,c.130C>T,p.L44F |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92147017T>C,c.812A>G,p.N271S |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92146787T>C,c.1042A>G,p.T348A |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92146744G>A,c.1085C>T,p.S362L |
| PEX1(NM_000466,peroxisomal biogenesis factor 1,1283aa) | g.7:92146720_92146721insT,c.1108_1109insA,p.370fs |