| 基因名 | 突变 |
|---|---|
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62541988G>C,c.872G>C,p.S291T |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62541876C>T,c.760C>T,p.R254C |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62536408G>A,c.611G>A,p.R204Q |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62463155A>C,c.418A>C,p.I140L |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62463129G>T,c.392G>T,p.R131L |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62463054G>T,c.317G>T,p.S106I |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62462981A>C,c.244A>C,p.N82H |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62462835A>G,c.98A>G,p.D33G |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62462766T>C,c.29T>C,p.V10A |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46969435A>G,c.26T>C,p.I9T |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46969401_46969403del,c.58_60del,p.20del |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46969312G>A,c.149C>T,p.T50I |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46968652T>C,c.284A>G,p.E95G |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46967629G>A,c.448C>T,p.R150W |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46967470G>A,c.607C>T,p.R203C |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46965887_46965888insG,c.652-2insC,p.218Acceptorins |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46965018C>G,c.927G>C,p.E309D |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46965017C>T,c.928G>A,p.D310N |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46963852T>C,c.1111A>G,p.M371V |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46962064C>T,c.1172G>A,p.R391H |
| SYT15(NM_031912,synaptotagmin XV,421aa) | g.10:46962062C>T,c.1174G>A,p.G392S |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210334244C>T,c.1411C>T,p.R471C |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210334143G>A,c.1310G>A,p.R437H |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210273357G>A,c.601G>A,p.D201N |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210267896A>T,c.558A>T,p.E186D |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210267894_210267896del,c.556_558del,p.186del |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210267700C>T,c.362C>T,p.P121L |
| SYT14(NM_001256006,synaptotagmin XIV,517aa) | g.1:210194441C>T,c.170C>T,p.A57V |