| 基因名 | 突变 |
|---|---|
| SRPRB(NM_021203,signal recognition particle receptor, B subunit,271aa) | g.3:133534472G>A,c.449G>A,p.R150Q |
| SRPRB(NM_021203,signal recognition particle receptor, B subunit,271aa) | g.3:133534466T>C,c.443T>C,p.F148S |
| SRPRB(NM_021203,signal recognition particle receptor, B subunit,271aa) | g.3:133524717G>C,c.25G>C,p.V9L |
| SRPK3(NM_014370,SRSF protein kinase 3,567aa) | g.X:153050572_153050573insC,c.1463_1464insC,p.488fs |
| SRPK3(NM_014370,SRSF protein kinase 3,567aa) | g.X:153049557G>A,c.1036G>A,p.A346T |
| SRPK3(NM_014370,SRSF protein kinase 3,567aa) | g.X:153049488G>A,c.967G>A,p.G323R |
| SRPK3(NM_014370,SRSF protein kinase 3,567aa) | g.X:153048325G>A,c.574G>A,p.V192M |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35855851C>A,c.340G>T,p.A114S |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35854500C>T,c.478+1G>A,p.160Donor |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35842021del,c.574del,p.192fs |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35840349C>T,c.742G>A,p.G248R |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35837547T>C,c.1123A>G,p.R375G |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35837529G>A,c.1141C>T,p.H381Y |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35825142T>C,c.1516A>G,p.K506E |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35803116C>T,c.1933G>A,p.A645T |
| SRPK1(NM_003137,SRSF protein kinase 1,655aa) | g.6:35803103C>T,c.1946G>A,p.R649Q |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57357683T>C,c.1589T>C,p.I530T |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57356577A>G,c.1399A>G,p.I467V |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57344588A>G,c.686A>G,p.H229R |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57342849G>A,c.623G>A,p.R208H |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57340514A>C,c.567A>C,p.Q189H |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57340510G>A,c.563G>A,p.G188D |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57340458C>T,c.511C>T,p.L171F |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57340271G>A,c.406G>A,p.V136I |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57333859C>T,c.58C>T,p.R20W |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57333820G>T,c.19G>T,p.G7W |
| SRP72(NM_006947,signal recognition particle 72kDa,671aa) | g.4:57333820G>C,c.19G>C,p.G7R |
| SRP68(NM_014230,signal recognition particle 68kDa,627aa) | g.17:74063385C>T,c.278G>A,p.R93H |