| 基因名 | 突变 |
|---|---|
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39777821_39777822insCCA,c.604_605insCCA,p.202ins1aa |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39772080G>C,c.361G>C,p.V121L |
| SYNGR1(NM_004711,synaptogyrin 1,233aa) | g.22:39770435G>A,c.214G>A,p.V72M |
| SYNGAP1(NM_006772,synaptic Ras GTPase activating protein 1,1343aa) | g.6:33411673T>C,c.3344T>C,p.I1115T |
| SYNGAP1(NM_006772,synaptic Ras GTPase activating protein 1,1343aa) | g.6:33411463C>G,c.3134C>G,p.A1045G |
| SYNGAP1(NM_006772,synaptic Ras GTPase activating protein 1,1343aa) | g.6:33411174G>A,c.2845G>A,p.G949S |
| SYNGAP1(NM_006772,synaptic Ras GTPase activating protein 1,1343aa) | g.6:33410722C>T,c.2393C>T,p.P798L |
| SYNGAP1(NM_006772,synaptic Ras GTPase activating protein 1,1343aa) | g.6:33410691T>C,c.2362T>C,p.S788P |
| SYNGAP1(NM_006772,synaptic Ras GTPase activating protein 1,1343aa) | g.6:33400485del,c.411del,p.137fs |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36498133T>G,c.317A>C,p.Q106P |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36497747C>G,c.523G>C,p.A175P |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36497554G>A,c.638C>T,p.T213M |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36497428A>G,c.764T>C,p.I255T |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36497358C>G,c.834G>C,p.Q278H |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36496291C>G,c.916G>C,p.G306R |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36494521T>C,c.1025A>G,p.N342S |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36494376G>T,c.1078C>A,p.L360I |
| SYNE4(NM_001039876,spectrin repeat containing, nuclear envelope family member 4,404aa) | g.19:36494328C>T,c.1126G>A,p.A376T |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95942061G>A,c.98C>T,p.T33M |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95942046G>A,c.113C>T,p.A38V |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95934253G>A,c.196C>T,p.R66W |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95934175C>A,c.274G>T,p.A92S |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95923651C>T,c.652G>A,p.V218M |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95923590G>T,c.713C>A,p.A238E |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95923557C>T,c.746G>A,p.R249Q |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95921914G>A,c.937C>T,p.R313C |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95921887G>A,c.964C>T,p.R322W |
| SYNE3(NM_152592,spectrin repeat containing, nuclear envelope family member 3,975aa) | g.14:95921869G>A,c.982C>T,p.R328W |