| 基因名 | 突变 |
|---|---|
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231065616G>A,c.1114C>T,p.R372X |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231050715A>G,c.1274T>C,p.L425S |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231048312A>G,c.1324T>C,p.F442L |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231042873C>T,c.1447G>A,p.G483R |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231042291A>G,c.1553T>C,p.I518T |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231042276A>G,c.1568T>C,p.M523T |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231037675G>A,c.1591C>T,p.R531W |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231036860C>T,c.1737G>A,p.M579I |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231035398G>A,c.1967C>T,p.T656M |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231035380C>T,c.1985G>A,p.R662Q |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231035359C>T,c.2006G>A,p.R669H |
| SP110(NM_080424,SP110 nuclear body protein,713aa) | g.2:231033896T>C,c.2086A>G,p.K696E |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231406680T>C,c.2477T>C,p.M826T |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231406629C>T,c.2426C>T,p.P809L |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231406623A>C,c.2420A>C,p.Q807P |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231406070G>A,c.2386G>A,p.A796T |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231404024C>T,c.2137C>T,p.R713W |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231338156G>A,c.1546+1G>A,p.516Donor |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231338119G>A,c.1510G>A,p.A504T |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231333763A>G,c.1297A>G,p.M433V |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231326081T>C,c.925T>C,p.C309R |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231326031G>A,c.875G>A,p.R292Q |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231311570A>G,c.476A>G,p.E159G |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231307717A>G,c.173A>G,p.K58R |
| SP100(NM_001080391,SP100 nuclear antigen,885aa) | g.2:231281027G>A,c.16G>A,p.G6S |
| SOX8(NM_014587,SRY (sex determining region Y)-box 8,446aa) | g.16:1035277C>T,c.1232C>T,p.P411L |
| SOX8(NM_014587,SRY (sex determining region Y)-box 8,446aa) | g.16:1035120G>A,c.1075G>A,p.G359S |
| SOX8(NM_014587,SRY (sex determining region Y)-box 8,446aa) | g.16:1031954C>T,c.32C>T,p.P11L |