| 基因名 | 突变 |
|---|---|
| SAGE1(NM_018666,sarcoma antigen 1,904aa) | g.X:134988656C>T,c.682C>T,p.R228W |
| SAGE1(NM_018666,sarcoma antigen 1,904aa) | g.X:134987551C>T,c.454C>T,p.H152Y |
| SAGE1(NM_018666,sarcoma antigen 1,904aa) | g.X:134983830C>T,c.200C>T,p.S67L |
| SAGE1(NM_018666,sarcoma antigen 1,904aa) | g.X:134978433C>T,c.32C>T,p.P11L |
| SAFB(NM_001201338,scaffold attachment factor B,917aa) | g.19:5667397T>G,c.2493T>G,p.D831E |
| SAFB(NM_001201338,scaffold attachment factor B,917aa) | g.19:5653364G>T,c.1459G>T,p.V487L |
| SAFB(NM_001201338,scaffold attachment factor B,917aa) | g.19:5645377A>T,c.576A>T,p.L192F |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5616342T>G,c.344A>C,p.D115A |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5613477G>A,c.605C>T,p.P202L |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5604901C>T,c.1343G>A,p.R448Q |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5604887C>T,c.1357G>A,p.V453I |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5604875T>C,c.1369A>G,p.T457A |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5604862G>A,c.1382C>T,p.A461V |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5600162G>A,c.1669C>T,p.R557W |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5592866C>T,c.2240G>A,p.R747H |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5590371C>T,c.2443G>A,p.G815S |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5590359G>A,c.2455C>T,p.R819C |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5587748C>T,c.2669G>A,p.G890E |
| SAFB2(NM_014649,scaffold attachment factor B2,953aa) | g.19:5587315C>T,c.2801G>A,p.S934N |
| SAE1(NM_005500,SUMO1 activating enzyme subunit 1,346aa) | g.19:47700631T>C,c.875T>C,p.V292A |
| SAE1(NM_005500,SUMO1 activating enzyme subunit 1,346aa) | g.19:47700600A>G,c.844A>G,p.I282V |
| SAE1(NM_005500,SUMO1 activating enzyme subunit 1,346aa) | g.19:47700572A>G,c.816A>G,p.I272M |
| SAE1(NM_005500,SUMO1 activating enzyme subunit 1,346aa) | g.19:47646845A>T,c.193A>T,p.M65L |
| SAE1(NM_005500,SUMO1 activating enzyme subunit 1,346aa) | g.19:47646779G>A,c.127G>A,p.G43S |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23932594C>T,c.484G>A,p.A162T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23930055A>T,c.696T>A,p.N232K |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23929941A>C,c.810T>G,p.F270L |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23929725T>A,c.1026A>T,p.K342N |