
| 基因名 | 突变 |
|---|---|
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115811273C>T,c.1676G>A,p.R559H |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115811248G>T,c.1701C>A,p.D567E |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115783100G>A,c.2302C>T,p.R768W |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115783019C>T,c.2383G>A,p.G795S |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115782795G>T,c.2607C>A,p.N869K |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115782766G>C,c.2636C>G,p.P879R |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115782730G>T,c.2672C>A,p.P891Q |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115782730G>A,c.2672C>T,p.P891L |
| SEMA6A(NM_020796,sema domain, transmembrane domain (TM), and cytoplasmic domain, (semaphorin) 6A,1030aa) | g.5:115782493T>G,c.2909A>C,p.Q970P |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122680058G>A,c.53C>T,p.P18L |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122680047G>T,c.64C>A,p.P22T |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122667454A>T,c.227T>A,p.L76Q |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122647884C>T,c.496G>A,p.E166K |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122647877G>A,c.503C>T,p.T168M |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122647419C>T,c.581G>A,p.R194Q |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122646835G>A,c.652C>T,p.R218W |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122646834C>T,c.653G>A,p.R218Q |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122646828A>G,c.659T>C,p.I220T |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122645332C>T,c.1043G>A,p.R348H |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122645278G>A,c.1097C>T,p.P366L |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122642588G>C,c.1148C>G,p.A383G |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122642472T>A,c.1264A>T,p.N422Y |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122634697C>T,c.1729G>A,p.G577R |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122634684C>T,c.1742G>A,p.R581H |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122634665G>C,c.1761C>G,p.D587E |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122634459C>T,c.1816G>A,p.V606M |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122632502G>C,c.2159C>G,p.P720R |
| SEMA5B(NM_001256346,sema domain, seven thrombospondin repeats (type 1 and type 1-like), transmembrane domain (TM) and short cytoplasmic domain, (semap | g.3:122632436A>G,c.2225T>C,p.M742T |