| 基因名 | 突变 |
|---|---|
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96961334T>G,c.1734A>C,p.E578D |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96955677T>C,c.2800A>G,p.T934A |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96955053T>C,c.3005A>G,p.N1002S |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96952217C>T,c.3835G>A,p.E1279K |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96950323C>T,c.4165G>A,p.V1389I |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96942978C>G,c.5933G>C,p.G1978A |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96942928C>T,c.5983G>A,p.A1995T |
| SNRNP200(NM_014014,small nuclear ribonucleoprotein 200kDa (U5),2136aa) | g.2:96942823G>A,c.6088C>T,p.R2030C |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43389910G>A,c.2159G>A,p.R720Q |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43389858G>A,c.2107G>A,p.G703S |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43389699A>G,c.1948A>G,p.M650V |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43389582G>A,c.1831G>A,p.G611S |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43389157G>A,c.1406G>A,p.R469Q |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43389028C>T,c.1277C>T,p.T426M |
| SNRK(NM_017719,SNF related kinase,765aa) | g.3:43388922C>T,c.1171C>T,p.P391S |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1286481G>A,c.1268G>A,p.R423H |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1286355G>A,c.1142G>A,p.R381H |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1286349T>A,c.1136T>A,p.I379N |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1286147C>T,c.934C>T,p.R312C |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1286091A>G,c.878A>G,p.Y293C |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1286057G>T,c.844G>T,p.G282C |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1285893G>T,c.680G>T,p.R227L |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1285641A>G,c.428A>G,p.K143R |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1277890C>T,c.152C>T,p.T51M |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1277824A>G,c.86A>G,p.Y29C |
| SNPH(NM_014723,syntaphilin,494aa) | g.20:1277061C>T,c.46C>T,p.R16C |
| SNN(NM_003498,stannin,88aa) | g.16:11770177G>A,c.262G>A,p.G88S |
| SNN(NM_003498,stannin,88aa) | g.16:11769964G>A,c.49G>A,p.V17I |