| 基因名 | 突变 |
|---|---|
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:120941860A>G,c.967A>G,p.I323V |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53158532C>T,c.1477C>T,p.L493F |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53158523C>T,c.1468C>T,p.R490C |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53158485C>T,c.1430C>T,p.T477M |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53155544C>T,c.1294C>T,p.H432Y |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53077063T>C,c.358T>C,p.C120R |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53077021A>C,c.316A>C,p.I106L |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53076799G>A,c.274G>A,p.G92R |
| STXBP4(NM_178509,syntaxin binding protein 4,553aa) | g.17:53076705G>A,c.181-1G>A,p.61Acceptor |
| STXBP3(NM_007269,syntaxin binding protein 3,592aa) | g.1:109351427_109351428insA,c.1707_1708insA,p.569fs |
| STXBP3(NM_007269,syntaxin binding protein 3,592aa) | g.1:109350079T>A,c.1592T>A,p.L531Q |
| STXBP3(NM_007269,syntaxin binding protein 3,592aa) | g.1:109325118G>A,c.884G>A,p.R295Q |
| STXBP3(NM_007269,syntaxin binding protein 3,592aa) | g.1:109315383G>A,c.535G>A,p.D179N |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7712364A>G,c.1696A>G,p.R566G |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7712277A>G,c.1609A>G,p.I537V |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7712054G>A,c.1492G>A,p.V498M |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7711153C>T,c.1408C>T,p.R470W |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7710134C>T,c.1331C>T,p.A444V |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7710082G>C,c.1280-1G>C,p.427Acceptor |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7709596G>A,c.1237G>A,p.D413N |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7708058C>T,c.1067C>T,p.T356M |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7707702C>T,c.986C>T,p.T329M |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7707328G>T,c.841G>T,p.G281W |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7706736G>A,c.608G>A,p.R203H |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7706729C>T,c.601C>T,p.R201C |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7706658C>T,c.530C>T,p.T177M |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7706656C>T,c.528C>T,p.R176R |
| STXBP2(NM_001272034,syntaxin binding protein 2,604aa) | g.19:7705588A>G,c.251A>G,p.Q84R |