| 基因名 | 突变 |
|---|---|
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152456276T>G,c.25751A>C,p.D8584A |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152454556A>G,c.25856T>C,p.L8619P |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152454461G>A,c.25951C>T,p.R8651C |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152453291G>A,c.26060C>T,p.T8687I |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152453258G>A,c.26093C>T,p.T8698M |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152443761C>T,c.26204G>A,p.R8735Q |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152443756C>T,c.26209G>A,p.G8737S |
| SYNE1(NM_182961,spectrin repeat containing, nuclear envelope 1,8797aa) | g.6:152443744G>T,c.26221C>A,p.L8741M |
| SYNDIG1(NM_024893,synapse differentiation inducing 1,258aa) | g.20:24524038G>T,c.305G>T,p.W102L |
| SYNDIG1(NM_024893,synapse differentiation inducing 1,258aa) | g.20:24524037_24524038insG,c.304_305insG,p.102fs |
| SYNDIG1(NM_024893,synapse differentiation inducing 1,258aa) | g.20:24523893G>A,c.160G>A,p.G54R |
| SYNDIG1L(NM_001105579,synapse differentiation inducing 1-like,238aa) | g.14:74876355G>C,c.93C>G,p.S31R |
| SYNDIG1L(NM_001105579,synapse differentiation inducing 1-like,238aa) | g.14:74876300C>T,c.148G>A,p.G50R |
| SYNDIG1L(NM_001105579,synapse differentiation inducing 1-like,238aa) | g.14:74874365C>T,c.590G>A,p.R197H |
| SYNDIG1L(NM_001105579,synapse differentiation inducing 1-like,238aa) | g.14:74874342G>A,c.613C>T,p.R205W |
| SYNCRIP(NM_001159677,synaptotagmin binding, cytoplasmic RNA interacting protein,562aa) | g.6:86324946T>A,c.1400A>T,p.Y467F |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33161212T>C,c.487A>G,p.M163V |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160912G>A,c.787C>T,p.R263C |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160911C>T,c.788G>A,p.R263H |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160878C>T,c.821G>A,p.R274Q |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160867T>C,c.832A>G,p.T278A |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160741C>T,c.958G>A,p.E320K |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160644T>G,c.1055A>C,p.E352A |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160526G>T,c.1173C>A,p.N391K |
| SYNC(NM_030786,syncoilin, intermediate filament protein,482aa) | g.1:33160510C>T,c.1189G>A,p.A397T |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:33402628C>T,c.20G>A,p.R7H |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:33402580G>A,c.68C>T,p.T23M |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:33264982C>T,c.589G>A,p.V197I |