| Genename | Variants |
|---|---|
| PSMB4(NM_002796,proteasome (prosome, macropain) subunit, beta type, 4,264aa) | g.1:151373790A>G,c.652A>G,p.M218V |
| PSMB3(NM_002795,proteasome (prosome, macropain) subunit, beta type, 3,205aa) | g.17:36920386T>C,c.584T>C,p.I195T |
| PSMB3(NM_002795,proteasome (prosome, macropain) subunit, beta type, 3,205aa) | g.17:36909499A>T,c.100A>T,p.M34L |
| PSMB2(NM_002794,proteasome (prosome, macropain) subunit, beta type, 2,201aa) | g.1:36074927G>A,c.368C>T,p.A123V |
| PSMB2(NM_002794,proteasome (prosome, macropain) subunit, beta type, 2,201aa) | g.1:36068939T>C,c.535A>G,p.S179G |
| PSMB2(NM_002794,proteasome (prosome, macropain) subunit, beta type, 2,201aa) | g.1:36068891A>C,c.583T>G,p.S195A |
| PSMB2(NM_002794,proteasome (prosome, macropain) subunit, beta type, 2,201aa) | g.1:36068872G>T,c.602C>A,p.S201Y |
| PSMB1(NM_002793,proteasome (prosome, macropain) subunit, beta type, 1,241aa) | g.6:170862300G>C,c.31C>G,p.P11A |
| PSMB1(NM_002793,proteasome (prosome, macropain) subunit, beta type, 1,241aa) | g.6:170862258G>A,c.73C>T,p.P25S |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512329A>G,c.895A>G,p.T299A |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512195C>T,c.761C>T,p.P254L |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512147G>A,c.713G>A,p.R238H |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512059G>A,c.625G>A,p.V209M |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512051G>A,c.617G>A,p.R206H |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512041G>A,c.607G>A,p.A203T |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512012G>A,c.578G>A,p.R193H |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23512011C>T,c.577C>T,p.R193C |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511990G>A,c.556G>A,p.G186S |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511940G>A,c.506G>A,p.R169H |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511939C>T,c.505C>T,p.R169C |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511930G>A,c.496G>A,p.D166N |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511898G>A,c.464G>A,p.R155H |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511778G>A,c.344G>A,p.R115Q |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511772G>A,c.338G>A,p.R113Q |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511607G>A,c.173G>A,p.R58H |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511579G>A,c.145G>A,p.G49S |
| PSMB11(NM_001099780,proteasome (prosome, macropain) subunit, beta type, 11,300aa) | g.14:23511526G>A,c.92G>A,p.R31Q |
| PSMB10(NM_002801,proteasome (prosome, macropain) subunit, beta type, 10,273aa) | g.16:67970596C>T,c.56+1G>A,p.19Donor |