| 基因名 | 突变 |
|---|---|
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50161091A>G,c.3692A>G,p.K1231R |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50157946T>C,c.3437T>C,p.M1146T |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50156827G>A,c.3181G>A,p.A1061T |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50156329A>G,c.2683A>G,p.T895A |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50155970G>A,c.2324G>A,p.G775E |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50155798C>T,c.2152C>T,p.P718S |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50155362_50155367del,c.1716_1721del,p.572_574del |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50154904A>C,c.1258A>C,p.T420P |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50154459G>C,c.813G>C,p.E271D |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50154190G>A,c.544G>A,p.G182R |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50150066G>T,c.457G>T,p.A153S |
| SCAF1(NM_021228,SR-related CTD-associated factor 1,1312aa) | g.19:50149813G>T,c.292G>T,p.A98S |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46345461T>G,c.269A>C,p.K90T |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46325313T>G,c.817A>C,p.S273R |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46322568T>C,c.916A>G,p.N306D |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46322526T>C,c.958A>G,p.T320A |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46322436C>T,c.1048G>A,p.G350S |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46321732T>C,c.1752A>G,p.I584M |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46321514A>T,c.1970T>A,p.F657Y |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46321482G>C,c.2002C>G,p.L668V |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46321231G>C,c.2253C>G,p.H751Q |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46320980G>A,c.2504C>T,p.P835L |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46320957G>A,c.2527C>T,p.R843W |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46320944C>T,c.2540G>A,p.R847H |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46320876C>A,c.2608G>T,p.D870Y |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46320354C>G,c.3130G>C,p.E1044Q |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46320311G>T,c.3173C>A,p.S1058Y |
| SCAF11(NM_004719,SR-related CTD-associated factor 11,1463aa) | g.12:46318636C>G,c.3781G>C,p.V1261L |