| 基因名 | 突变 |
|---|---|
| PSMG3(NM_032302,proteasome (prosome, macropain) assembly chaperone 3,122aa) | g.7:1607380C>T,c.323G>A,p.G108E |
| PSMG2(NM_020232,proteasome (prosome, macropain) assembly chaperone 2,264aa) | g.18:12720640G>A,c.539G>A,p.R180H |
| PSMG2(NM_020232,proteasome (prosome, macropain) assembly chaperone 2,264aa) | g.18:12718612C>T,c.385C>T,p.R129C |
| PSMG2(NM_020232,proteasome (prosome, macropain) assembly chaperone 2,264aa) | g.18:12706654A>C,c.163A>C,p.M55L |
| PSMG2(NM_020232,proteasome (prosome, macropain) assembly chaperone 2,264aa) | g.18:12703146G>A,c.40G>A,p.G14S |
| PSMG2(NM_020232,proteasome (prosome, macropain) assembly chaperone 2,264aa) | g.18:12703140C>T,c.34C>T,p.L12F |
| PSMG1(NM_003720,proteasome (prosome, macropain) assembly chaperone 1,288aa) | g.21:40552341A>G,c.263T>C,p.M88T |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1145110A>T,c.754A>T,p.S252C |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1145081G>A,c.725G>A,p.R242H |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1145062G>A,c.706G>A,p.A236T |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1144967G>A,c.611G>A,p.R204Q |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1144966C>T,c.610C>T,p.R204W |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1143797T>C,c.575T>C,p.V192A |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1143791C>T,c.569C>T,p.P190L |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1115919A>G,c.521A>G,p.H174R |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1115870T>A,c.472T>A,p.F158I |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1115865G>A,c.467G>A,p.R156Q |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1115796G>A,c.398G>A,p.R133H |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1115789C>T,c.391C>T,p.R131W |
| PSMF1(NM_006814,proteasome (prosome, macropain) inhibitor subunit 1 (PI31),271aa) | g.20:1099523T>G,c.107T>G,p.F36C |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54197829C>A,c.93G>T,p.E31D |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54176397T>G,c.266A>C,p.K89T |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54164633C>T,c.590G>A,p.R197Q |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54164538T>C,c.685A>G,p.K229E |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54161745C>G,c.954G>C,p.M318I |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54159891G>A,c.964C>T,p.P322S |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54146292T>C,c.2512A>G,p.N838D |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54135968C>A,c.2582G>T,p.R861L |