| 基因名 | 突变 |
|---|---|
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114682276C>T,c.218G>A,p.R73Q |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114680448A>G,c.485T>C,p.I162T |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114680396G>T,c.537C>A,p.S179R |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114680329G>A,c.604C>T,p.R202C |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114680310G>A,c.623C>T,p.T208I |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114680218G>A,c.715C>T,p.R239C |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114680119T>C,c.814A>G,p.S272G |
| SYT6(NM_001270805,synaptotagmin VI,425aa) | g.1:114636415C>A,c.1271G>T,p.R424L |
| SYT5(NM_003180,synaptotagmin V,386aa) | g.19:55687413C>T,c.332G>A,p.R111Q |
| SYT5(NM_003180,synaptotagmin V,386aa) | g.19:55685931T>C,c.914A>G,p.Y305C |
| SYT4(NM_020783,synaptotagmin IV,425aa) | g.18:40853969C>T,c.425G>A,p.S142N |
| SYT4(NM_020783,synaptotagmin IV,425aa) | g.18:40853900A>T,c.494T>A,p.F165Y |
| SYT4(NM_020783,synaptotagmin IV,425aa) | g.18:40853889C>T,c.505G>A,p.A169T |
| SYT3(NM_032298,synaptotagmin III,590aa) | g.19:51135954C>A,c.263G>T,p.G88V |
| SYT3(NM_032298,synaptotagmin III,590aa) | g.19:51133106C>T,c.997G>A,p.G333S |
| SYT3(NM_032298,synaptotagmin III,590aa) | g.19:51132676C>T,c.1156G>A,p.V386I |
| SYT2(NM_001136504,synaptotagmin II,419aa) | g.1:202573729C>T,c.199G>A,p.A67T |
| SYT2(NM_001136504,synaptotagmin II,419aa) | g.1:202571661C>T,c.478G>A,p.V160I |
| SYT2(NM_001136504,synaptotagmin II,419aa) | g.1:202569556G>C,c.848C>G,p.T283R |
| SYT2(NM_001136504,synaptotagmin II,419aa) | g.1:202568417C>T,c.982G>A,p.V328M |
| SYT2(NM_001136504,synaptotagmin II,419aa) | g.1:202566003G>A,c.1142C>T,p.T381M |
| SYT1(NM_001135805,synaptotagmin I,422aa) | g.12:79842893G>A,c.1258G>A,p.V420I |
| SYT17(NM_016524,synaptotagmin XVII,474aa) | g.16:19278369G>A,c.1396G>A,p.V466M |
| SYT17(NM_016524,synaptotagmin XVII,474aa) | g.16:19194885G>A,c.367G>A,p.D123N |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62551020C>T,c.1541C>T,p.S514L |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62547879C>T,c.1321C>T,p.R441W |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62547873G>A,c.1315G>A,p.A439T |
| SYT16(NM_031914,synaptotagmin XVI,645aa) | g.14:62547748G>A,c.1190G>A,p.G397D |