| 基因名 | 突变 |
|---|---|
| STX19(NM_001001850,syntaxin 19,294aa) | g.3:93734044A>C,c.70T>G,p.S24A |
| STX18(NM_016930,syntaxin 18,335aa) | g.4:4543531C>T,c.161G>A,p.R54H |
| STX18(NM_016930,syntaxin 18,335aa) | g.4:4461207T>C,c.244A>G,p.M82V |
| STX18(NM_016930,syntaxin 18,335aa) | g.4:4459224T>C,c.356A>G,p.H119R |
| STX18(NM_016930,syntaxin 18,335aa) | g.4:4440183T>G,c.551A>C,p.E184A |
| STX18(NM_016930,syntaxin 18,335aa) | g.4:4436517A>T,c.682T>A,p.S228T |
| STX17(NM_017919,syntaxin 17,302aa) | g.9:102713432G>A,c.280G>A,p.V94I |
| STX17(NM_017919,syntaxin 17,302aa) | g.9:102677589T>C,c.68T>C,p.I23T |
| STX17(NM_017919,syntaxin 17,302aa) | g.9:102677553G>A,c.32G>A,p.R11H |
| STX17(NM_017919,syntaxin 17,302aa) | g.9:102677552C>T,c.31C>T,p.R11C |
| STX16(NM_001001433,syntaxin 16,325aa) | g.20:57246274G>A,c.713G>A,p.R238Q |
| STX16(NM_001001433,syntaxin 16,325aa) | g.20:57246268G>A,c.707G>A,p.R236Q |
| STX16(NM_001001433,syntaxin 16,325aa) | g.20:57246267C>T,c.706C>T,p.R236W |
| STX16(NM_001001433,syntaxin 16,325aa) | g.20:57245580G>A,c.569G>A,p.R190Q |
| STX16(NM_001001433,syntaxin 16,325aa) | g.20:57244409G>T,c.456G>T,p.E152D |
| STX16(NM_001001433,syntaxin 16,325aa) | g.20:57244396G>A,c.443G>A,p.R148Q |
| STX12(NM_177424,syntaxin 12,276aa) | g.1:28138695G>A,c.492G>A,p.M164I |
| STX12(NM_177424,syntaxin 12,276aa) | g.1:28120102G>C,c.247G>C,p.E83Q |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144508593A>G,c.829A>G,p.T277A |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144508563G>A,c.799G>A,p.V267M |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144508410C>A,c.646C>A,p.R216S |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144508380G>A,c.616G>A,p.E206K |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144508353G>A,c.589G>A,p.V197M |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144507910G>A,c.146G>A,p.R49Q |
| STX11(NM_003764,syntaxin 11,287aa) | g.6:144507790T>G,c.26T>G,p.L9R |
| STX10(NM_001271610,syntaxin 10,246aa) | g.19:13260975C>T,c.13G>A,p.D5N |
| STX10(NM_001271610,syntaxin 10,246aa) | g.19:13255323T>A,c.741A>T,p.X247C |
| STUB1(NM_005861,STIP1 homology and U-box containing protein 1, E3 ubiquitin protein ligase,303aa) | g.16:731539C>T,c.460C>T,p.R154C |