| 基因名 | 突变 |
|---|---|
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231149108G>A,c.1546G>A,p.E516K |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231149097T>C,c.1535T>C,p.M512T |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231120239G>A,c.1232G>A,p.R411H |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231120238C>T,c.1231C>T,p.R411C |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231120209G>C,c.1202G>C,p.R401P |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231118041A>C,c.1068A>C,p.L356F |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231118030G>A,c.1058-1G>A,p.353Acceptor |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231110582C>T,c.669C>T,p.S223S |
| SP140(NM_007237,SP140 nuclear body protein,867aa) | g.2:231108496G>A,c.541G>A,p.A181T |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231266520A>G,c.1642A>G,p.K548E |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231258150C>T,c.1129C>T,p.P377S |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231256934G>A,c.1097G>A,p.R366Q |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231256910G>A,c.1073G>A,p.R358H |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231248279A>G,c.692A>G,p.N231S |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231248261C>T,c.674C>T,p.T225M |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231226365G>A,c.476G>A,p.R159Q |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231222675T>C,c.263T>C,p.M88T |
| SP140L(NM_138402,SP140 nuclear body protein-like,580aa) | g.2:231192003G>C,c.19G>C,p.D7H |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077725A>G,c.334T>C,p.W112R |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077683C>T,c.376G>A,p.G126S |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077676G>A,c.383C>T,p.A128V |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077601G>A,c.458C>T,p.A153V |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077517A>C,c.542T>G,p.L181R |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077112G>A,c.617C>T,p.A206V |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231077110C>T,c.619G>A,p.E207K |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231076191T>C,c.745A>G,p.M249V |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231072709C>T,c.895G>A,p.G299R |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231067354G>A,c.989C>T,p.T330M |