| 基因名 | 突变 |
|---|---|
| STYX(NM_145251,serine/threonine/tyrosine interacting protein,223aa) | g.14:53217443A>G,c.187A>G,p.I63V |
| STYX(NM_145251,serine/threonine/tyrosine interacting protein,223aa) | g.14:53197235A>G,c.43A>G,p.K15E |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75657971G>A,c.154C>T,p.R52X |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75651253C>T,c.223G>A,p.V75M |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75643151T>C,c.362A>G,p.H121R |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75643089G>A,c.424C>T,p.R142W |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75634638T>C,c.538A>G,p.K180E |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75633160C>T,c.613G>A,p.A205T |
| STYXL1(NM_016086,serine/threonine/tyrosine interacting-like 1,313aa) | g.7:75625797G>C,c.931C>G,p.P311A |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10783893G>A,c.202C>T,p.P68S |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10782115T>C,c.610A>G,p.S204G |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10782097G>A,c.628C>T,p.R210W |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10780278_10780279insT,c.678_679insA,p.226fs |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10780247A>G,c.710T>C,p.L237S |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10777335del,c.841del,p.281fs |
| STYK1(NM_018423,serine/threonine/tyrosine kinase 1,422aa) | g.12:10772876C>T,c.1136G>A,p.R379H |
| STXBP5(NM_001127715,syntaxin binding protein 5 (tomosyn),1151aa) | g.6:147636753A>G,c.1505A>G,p.Y502C |
| STXBP5(NM_001127715,syntaxin binding protein 5 (tomosyn),1151aa) | g.6:147635413A>G,c.1307A>G,p.N436S |
| STXBP5(NM_001127715,syntaxin binding protein 5 (tomosyn),1151aa) | g.6:147635108C>G,c.1234C>G,p.L412V |
| STXBP5(NM_001127715,syntaxin binding protein 5 (tomosyn),1151aa) | g.6:147581752G>A,c.433G>A,p.V145I |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:121126425G>T,c.2995G>T,p.A999S |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:121100283G>A,c.2563G>A,p.V855I |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:121001127C>T,c.2125C>T,p.R709C |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:120978000G>A,c.1943G>A,p.S648N |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:120976051C>G,c.1703C>G,p.T568S |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:120973807G>A,c.1507G>A,p.G503R |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:120957901C>T,c.1268C>T,p.P423L |
| STXBP5L(NM_014980,syntaxin binding protein 5-like,1186aa) | g.3:120952486G>A,c.1135G>A,p.V379M |