| 基因名 | 突变 |
|---|---|
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54135936T>C,c.2614A>G,p.I872V |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54131247T>A,c.2990A>T,p.Y997F |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54127040C>T,c.3400G>A,p.E1134K |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54122796T>C,c.3766A>G,p.I1256V |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54120025A>T,c.4111T>A,p.S1371T |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54112870G>A,c.4772C>T,p.T1591I |
| PSME4(NM_014614,proteasome (prosome, macropain) activator subunit 4,1843aa) | g.2:54096528T>C,c.5248A>G,p.T1750A |
| PSME3(NM_001267045,proteasome (prosome, macropain) activator subunit 3 (PA28 gamma; Ki),265aa) | g.17:40985792G>C,c.-252-1G>C,p.5'UTRAcceptor |
| PSME2(NM_002818,proteasome (prosome, macropain) activator subunit 2 (PA28 beta),239aa) | g.14:24614361T>G,c.266A>C,p.H89P |
| PSME1(NM_176783,proteasome (prosome, macropain) activator subunit 1 (PA28 alpha),250aa) | g.14:24607842G>A,c.742G>A,p.A248T |
| PSME1(NM_176783,proteasome (prosome, macropain) activator subunit 1 (PA28 alpha),250aa) | g.14:24607804G>A,c.704G>A,p.R235K |
| PSME1(NM_176783,proteasome (prosome, macropain) activator subunit 1 (PA28 alpha),250aa) | g.14:24606913_24606914insC,c.297_298insC,p.99fs |
| PSME1(NM_176783,proteasome (prosome, macropain) activator subunit 1 (PA28 alpha),250aa) | g.14:24606543A>G,c.149A>G,p.N50S |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122353826G>T,c.620G>T,p.R207L |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122353796A>G,c.590A>G,p.E197G |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122340955A>G,c.497A>G,p.N166S |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122337718C>G,c.420C>G,p.N140K |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122332727C>T,c.221C>T,p.T74I |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122332697G>A,c.191G>A,p.R64Q |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122332696C>T,c.190C>T,p.R64W |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122326812T>C,c.50T>C,p.V17A |
| PSMD9(NM_002813,proteasome (prosome, macropain) 26S subunit, non-ATPase, 9,223aa) | g.12:122326793G>A,c.31G>A,p.G11S |
| PSMD8(NM_002812,proteasome (prosome, macropain) 26S subunit, non-ATPase, 8,350aa) | g.19:38874008G>A,c.1031G>A,p.R344Q |
| PSMD8(NM_002812,proteasome (prosome, macropain) 26S subunit, non-ATPase, 8,350aa) | g.19:38869984G>A,c.641G>A,p.R214Q |
| PSMD7(NM_002811,proteasome (prosome, macropain) 26S subunit, non-ATPase, 7,324aa) | g.16:74339606A>G,c.950A>G,p.K317R |
| PSMD7(NM_002811,proteasome (prosome, macropain) 26S subunit, non-ATPase, 7,324aa) | g.16:74339302G>A,c.646G>A,p.A216T |
| PSMD7(NM_002811,proteasome (prosome, macropain) 26S subunit, non-ATPase, 7,324aa) | g.16:74339243A>G,c.587A>G,p.H196R |
| PSMD6(NM_001271779,proteasome (prosome, macropain) 26S subunit, non-ATPase, 6,442aa) | g.3:64008963C>T,c.133G>A,p.V45I |