| 基因名 | 突变 |
|---|---|
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32992674C>T,c.757G>A,p.A253T |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32929861C>G,c.1010G>C,p.S337T |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32923920G>T,c.1300C>A,p.R434S |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32923919C>T,c.1301G>A,p.R434H |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32914312C>T,c.1325G>A,p.R442H |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32914209C>A,c.1428G>T,p.Q476H |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32914175G>A,c.1462C>T,p.R488W |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32914090C>T,c.1547G>A,p.R516H |
| SYN3(NM_001135774,synapsin III,579aa) | g.22:32914067C>G,c.1570G>C,p.E524Q |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12224882A>G,c.1376A>G,p.Q459R |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12224866C>A,c.1360C>A,p.P454T |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12187229C>T,c.575C>T,p.A192V |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046364G>C,c.310G>C,p.A104P |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046362G>C,c.308G>C,p.G103A |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046297A>C,c.243A>C,p.L81F |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046222A>C,c.197A>C,p.X66S |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046215G>C,c.190G>C,p.A64P |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046207C>G,c.182C>G,p.T61R |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046168A>C,c.143A>C,p.X48S |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046131A>C,c.106A>C,p.T36P |
| SYN2(NM_003178,synapsin II,477aa) | g.3:12046125G>C,c.100G>C,p.A34P |
| SYN1(NM_006950,synapsin I,705aa) | g.X:47466344C>T,c.527G>A,p.R176Q |
| SYMPK(NM_004819,symplekin,1274aa) | g.19:46357672C>T,c.82G>A,p.D28N |
| SYMPK(NM_004819,symplekin,1274aa) | g.19:46332369C>T,c.1844G>A,p.R615H |
| SYMPK(NM_004819,symplekin,1274aa) | g.19:46320066G>T,c.3248C>A,p.T1083N |
| SYMPK(NM_004819,symplekin,1274aa) | g.19:46319245G>A,c.3551C>T,p.P1184L |
| SYK(NM_003177,spleen tyrosine kinase,635aa) | g.9:93657832G>A,c.1858G>A,p.A620T |
| SYK(NM_003177,spleen tyrosine kinase,635aa) | g.9:93650881G>A,c.1807G>A,p.D603N |