| Genename | Variants |
|---|---|
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:244115G>A,c.170G>A,p.C57Y |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:244108A>G,c.163A>G,p.N55D |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:244106A>G,c.161A>G,p.E54G |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:237087A>G,c.38A>G,p.N13S |
| PSMD12(NM_002816,proteasome (prosome, macropain) 26S subunit, non-ATPase, 12,456aa) | g.17:65353693T>C,c.110A>G,p.E37G |
| PSMD10(NM_002814,proteasome (prosome, macropain) 26S subunit, non-ATPase, 10,226aa) | g.X:107328208C>T,c.677G>A,p.G226D |
| PSMC6(NM_002806,proteasome (prosome, macropain) 26S subunit, ATPase, 6,403aa) | g.14:53190694A>G,c.1033A>G,p.I345V |
| PSMC5(NM_001199163,proteasome (prosome, macropain) 26S subunit, ATPase, 5,398aa) | g.17:61905556T>C,c.59T>C,p.I20T |
| PSMC4(NM_006503,proteasome (prosome, macropain) 26S subunit, ATPase, 4,418aa) | g.19:40477131G>A,c.22G>A,p.V8M |
| PSMC3IP(NM_001256015,PSMC3 interacting protein,138aa) | g.17:40726131C>T,c.86G>A,p.R29H |
| PSMC3IP(NM_001256015,PSMC3 interacting protein,138aa) | g.17:40725379A>T,c.250T>A,p.Y84N |
| PSMB9(NM_002800,proteasome (prosome, macropain) subunit, beta type, 9,219aa) | g.6:32826267C>T,c.517C>T,p.R173C |
| PSMB9(NM_002800,proteasome (prosome, macropain) subunit, beta type, 9,219aa) | g.6:32825090G>A,c.179G>A,p.R60H |
| PSMB9(NM_002800,proteasome (prosome, macropain) subunit, beta type, 9,219aa) | g.6:32825089C>T,c.178C>T,p.R60C |
| PSMB9(NM_002800,proteasome (prosome, macropain) subunit, beta type, 9,219aa) | g.6:32823948G>A,c.94G>A,p.V32I |
| PSMB9(NM_002800,proteasome (prosome, macropain) subunit, beta type, 9,219aa) | g.6:32822032G>A,c.26G>A,p.G9E |
| PSMB8(NM_004159,proteasome (prosome, macropain) subunit, beta type, 8,272aa) | g.6:32810794T>A,c.208A>T,p.T70S |
| PSMB8(NM_004159,proteasome (prosome, macropain) subunit, beta type, 8,272aa) | g.6:32810015G>A,c.421C>T,p.R141C |
| PSMB8(NM_004159,proteasome (prosome, macropain) subunit, beta type, 8,272aa) | g.6:32809961G>A,c.475C>T,p.R159W |
| PSMB8(NM_004159,proteasome (prosome, macropain) subunit, beta type, 8,272aa) | g.6:32809494C>T,c.544G>A,p.V182M |
| PSMB7(NM_002799,proteasome (prosome, macropain) subunit, beta type, 7,277aa) | g.9:127177194T>A,c.83A>T,p.D28V |
| PSMB7(NM_002799,proteasome (prosome, macropain) subunit, beta type, 7,277aa) | g.9:127177161A>G,c.116T>C,p.V39A |
| PSMB7(NM_002799,proteasome (prosome, macropain) subunit, beta type, 7,277aa) | g.9:127174639C>G,c.387G>C,p.M129I |
| PSMB7(NM_002799,proteasome (prosome, macropain) subunit, beta type, 7,277aa) | g.9:127119076C>T,c.689G>A,p.R230H |
| PSMB6(NM_001270481,proteasome (prosome, macropain) subunit, beta type, 6,213aa) | g.17:4700993C>G,c.319C>G,p.P107A |
| PSMB6(NM_001270481,proteasome (prosome, macropain) subunit, beta type, 6,213aa) | g.17:4700854G>A,c.292G>A,p.G98S |
| PSMB5(NM_001144932,proteasome (prosome, macropain) subunit, beta type, 5,203aa) | g.14:23504021G>A,c.70C>T,p.R24C |
| PSMB4(NM_002796,proteasome (prosome, macropain) subunit, beta type, 4,264aa) | g.1:151374025T>C,c.701T>C,p.I234T |