| 基因名 | 突变 |
|---|---|
| SYT9(NM_175733,synaptotagmin IX,491aa) | g.11:7273437C>T,c.20C>T,p.A7V |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858638C>T,c.1183C>T,p.R395C |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858632C>T,c.1177C>T,p.R393C |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858578C>A,c.1123C>A,p.P375T |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858572C>T,c.1117C>T,p.R373W |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858555G>A,c.1100G>A,p.R367Q |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858479G>A,c.1024G>A,p.V342I |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858453G>A,c.998G>A,p.R333H |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858280A>G,c.926A>G,p.N309S |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858262C>T,c.908C>T,p.T303M |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858077G>A,c.818G>A,p.R273H |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1858076C>T,c.817C>T,p.R273C |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1857989G>T,c.730G>T,p.E244X |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1857751C>G,c.655C>G,p.P219A |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1857477C>T,c.521C>T,p.T174M |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1857434A>G,c.478A>G,p.T160A |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1857173T>C,c.358T>C,p.C120R |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1857117T>G,c.302T>G,p.V101G |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1856670G>A,c.281G>A,p.G94D |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1856615C>T,c.226C>T,p.R76C |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1856532G>A,c.143G>A,p.R48H |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1856367C>T,c.74C>T,p.P25L |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1856344C>A,c.51C>A,p.H17Q |
| SYT8(NM_138567,synaptotagmin VIII,401aa) | g.11:1855821G>C,c.20G>C,p.W7S |
| SYT7(NM_001252065,synaptotagmin VII,478aa) | g.11:61313525C>T,c.418G>A,p.A140T |
| SYT7(NM_001252065,synaptotagmin VII,478aa) | g.11:61300525C>T,c.512G>A,p.R171H |
| SYT7(NM_001252065,synaptotagmin VII,478aa) | g.11:61290566C>T,c.1313G>A,p.R438H |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114682286G>A,c.208C>T,p.R70C |