| 基因名 | 突变 |
|---|---|
| ROBO2(NM_002942,roundabout, axon guidance receptor, homolog 2 (Drosophila),1378aa) | g.3:77607341A>G,c.1437+41A>G,p.479CrypticDonor |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78719439C>T,c.1247G>A,p.R416Q |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78717676G>A,c.1480C>T,p.P494S |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78710311G>A,c.2081C>T,p.T694M |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78688899C>T,c.2897G>A,p.R966H |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78685024C>T,c.3137G>A,p.S1046N |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78680431_78680432insCCC,c.3370_3371insGGG,p.1124ins1aa |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78676694C>T,c.3517G>A,p.V1173M |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78676535G>A,c.3676C>T,p.L1226F |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78666943del,c.3989del,p.1330fs |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78663947C>T,c.4151G>A,p.R1384H |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78663873C>A,c.4225G>T,p.V1409L |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78656114G>A,c.4378C>T,p.P1460S |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78656062G>A,c.4430C>T,p.S1477L |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78655939C>T,c.4553G>A,p.R1518H |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78649457C>T,c.4612G>A,p.D1538N |
| ROBO1(NM_133631,roundabout, axon guidance receptor, homolog 1 (Drosophila),1606aa) | g.3:78649399C>T,c.4670G>A,p.S1557N |
| RNPS1(NM_080594,RNA binding protein S1, serine-rich domain,305aa) | g.16:2314228C>T,c.176G>A,p.R59Q |
| RNPS1(NM_080594,RNA binding protein S1, serine-rich domain,305aa) | g.16:2313135_2313137del,c.379_381del,p.127del |
| RNPEP(NM_020216,arginyl aminopeptidase (aminopeptidase B),650aa) | g.1:201973565G>A,c.1735G>A,p.V579I |
| RNPEP(NM_020216,arginyl aminopeptidase (aminopeptidase B),650aa) | g.1:201970542G>A,c.1243G>A,p.E415K |
| RNPEP(NM_020216,arginyl aminopeptidase (aminopeptidase B),650aa) | g.1:201970506G>A,c.1207G>A,p.V403I |
| RNPEP(NM_020216,arginyl aminopeptidase (aminopeptidase B),650aa) | g.1:201966652G>A,c.1060G>A,p.A354T |
| RNPEP(NM_020216,arginyl aminopeptidase (aminopeptidase B),650aa) | g.1:201965317G>T,c.780G>T,p.K260N |
| RNPEP(NM_020216,arginyl aminopeptidase (aminopeptidase B),650aa) | g.1:201958628G>A,c.706G>A,p.G236R |
| RNPEPL1(NM_018226,arginyl aminopeptidase (aminopeptidase B)-like 1,725aa) | g.2:241517226G>A,c.2095G>A,p.D699N |
| RNPEPL1(NM_018226,arginyl aminopeptidase (aminopeptidase B)-like 1,725aa) | g.2:241513756G>A,c.1165G>A,p.E389K |
| RNPEPL1(NM_018226,arginyl aminopeptidase (aminopeptidase B)-like 1,725aa) | g.2:241512581G>A,c.724G>A,p.E242K |