| 基因名 | 突变 |
|---|---|
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150384657G>A,c.1645C>T,p.R549C |
| FAM194A(NM_152394,family with sequence similarity 194, member A,663aa) | g.3:150377688T>G,c.1983A>C,p.E661D |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176963668G>A,c.767C>T,p.P256L |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176963626C>G,c.809G>C,p.G270A |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176963392G>A,c.1043C>T,p.P348L |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176959529C>T,c.1190G>A,p.R397Q |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176959455C>T,c.1264G>A,p.G422S |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176952178T>G,c.1304A>C,p.E435A |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176952089C>T,c.1393G>A,p.D465N |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176952020C>T,c.1462G>A,p.A488T |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176951914G>A,c.1568C>T,p.S523F |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176951707T>C,c.1775A>G,p.N592S |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176951392C>T,c.2090G>A,p.R697Q |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176951282G>T,c.2200C>A,p.Q734K |
| FAM193B(NM_001190946,family with sequence similarity 193, member B,822aa) | g.5:176951276A>G,c.2206T>C,p.S736P |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2709969C>T,c.3596C>T,p.S1199L |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2702115A>G,c.3343A>G,p.I1115V |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2702066G>C,c.3294G>C,p.E1098D |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2701816A>G,c.3044A>G,p.K1015R |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2701750C>T,c.2978C>T,p.S993L |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2701672A>G,c.2900A>G,p.N967S |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2701540G>A,c.2768G>A,p.R923Q |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2696701G>A,c.2248G>A,p.E750K |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2695585C>T,c.2203C>T,p.P735S |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2695559C>T,c.2177C>T,p.P726L |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2695529G>A,c.2147G>A,p.R716H |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2692479C>T,c.1712C>T,p.P571L |
| FAM193A(NM_001256666,family with sequence similarity 193, member A,1265aa) | g.4:2664974A>G,c.1165A>G,p.S389G |