| Genename | Variants |
|---|---|
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:64008370T>G,c.253A>C,p.I85L |
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:64008349G>A,c.274C>T,p.P92S |
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:64004978G>A,c.650C>T,p.A217V |
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:64004627T>C,c.743A>G,p.K248R |
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:64004301C>T,c.959G>A,p.R320H |
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:63996606C>T,c.1180G>A,p.G394R |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123605169C>T,c.19G>A,p.A7T |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123605139C>A,c.49G>T,p.A17S |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123605126T>C,c.62A>G,p.E21G |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123594111G>A,c.431C>T,p.A144V |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123593626G>A,c.544C>T,p.R182X |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123586913T>G,c.865A>C,p.I289L |
| PSMD5(NM_005047,proteasome (prosome, macropain) 26S subunit, non-ATPase, 5,504aa) | g.9:123583727C>T,c.1022G>A,p.R341H |
| PSMD3(NM_002809,proteasome (prosome, macropain) 26S subunit, non-ATPase, 3,534aa) | g.17:38142955G>A,c.539G>A,p.R180H |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184026665A>G,c.2714A>G,p.N905S |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184024201A>G,c.1868A>G,p.K623R |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184020542G>T,c.939G>T,p.E313D |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184019834G>A,c.679G>A,p.A227T |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184019681G>A,c.526G>A,p.A176T |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184019325C>T,c.358C>T,p.R120C |
| PSMD2(NM_002808,proteasome (prosome, macropain) 26S subunit, non-ATPase, 2,908aa) | g.3:184017075C>G,c.21C>G,p.D7E |
| PSMD1(NM_002807,proteasome (prosome, macropain) 26S subunit, non-ATPase, 1,953aa) | g.2:232011040G>C,c.2085G>C,p.M695I |
| PSMD1(NM_002807,proteasome (prosome, macropain) 26S subunit, non-ATPase, 1,953aa) | g.2:231931766A>G,c.451A>G,p.I151V |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:249023G>A,c.746G>A,p.R249Q |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:249016G>A,c.739G>A,p.V247I |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:247329C>T,c.455C>T,p.S152L |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:244141G>A,c.196G>A,p.A66T |
| PSMD13(NM_175932,proteasome (prosome, macropain) 26S subunit, non-ATPase, 13,378aa) | g.11:244129C>T,c.184C>T,p.R62W |