| Genename | Variants |
|---|---|
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28511997C>G,c.982C>G,p.Q328E |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28511884G>A,c.869G>A,p.R290Q |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28508024C>T,c.607C>T,p.R203C |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28507974A>G,c.557A>G,p.H186R |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28505174A>C,c.257A>C,p.K86T |
| NSRP1(NM_032141,nuclear speckle splicing regulatory protein 1,558aa) | g.17:28505167A>G,c.250A>G,p.K84E |
| NSMF(NM_001130969,NMDA receptor synaptonuclear signaling and neuronal migration factor,530aa) | g.9:140350923C>T,c.644G>A,p.R215H |
| NSMF(NM_001130969,NMDA receptor synaptonuclear signaling and neuronal migration factor,530aa) | g.9:140343854C>T,c.1585G>A,p.V529I |
| NSMCE4A(NM_017615,non-SMC element 4 homolog A (S. cerevisiae),385aa) | g.10:123733533G>A,c.356C>T,p.T119I |
| NSMCE4A(NM_017615,non-SMC element 4 homolog A (S. cerevisiae),385aa) | g.10:123724890T>A,c.664A>T,p.I222L |
| NSMCE4A(NM_017615,non-SMC element 4 homolog A (S. cerevisiae),385aa) | g.10:123724884C>T,c.670G>A,p.G224R |
| NSMCE4A(NM_017615,non-SMC element 4 homolog A (S. cerevisiae),385aa) | g.10:123724863G>A,c.691C>T,p.P231S |
| NSMCE4A(NM_017615,non-SMC element 4 homolog A (S. cerevisiae),385aa) | g.10:123721026G>A,c.851C>T,p.T284I |
| NSMCE4A(NM_017615,non-SMC element 4 homolog A (S. cerevisiae),385aa) | g.10:123719026C>T,c.1073G>A,p.R358H |
| NSMCE2(NM_173685,non-SMC element 2, MMS21 homolog (S. cerevisiae),247aa) | g.8:126379041A>G,c.658A>G,p.I220V |
| NSMCE2(NM_173685,non-SMC element 2, MMS21 homolog (S. cerevisiae),247aa) | g.8:126370044C>T,c.610C>T,p.R204W |
| NSMCE2(NM_173685,non-SMC element 2, MMS21 homolog (S. cerevisiae),247aa) | g.8:126194457T>G,c.377T>G,p.F126C |
| NSMCE2(NM_173685,non-SMC element 2, MMS21 homolog (S. cerevisiae),247aa) | g.8:126163472C>T,c.217C>T,p.R73W |
| NSMCE1(NM_145080,non-SMC element 1 homolog (S. cerevisiae),266aa) | g.16:27268779G>C,c.113C>G,p.T38R |
| NSMCE1(NM_145080,non-SMC element 1 homolog (S. cerevisiae),266aa) | g.16:27246617T>C,c.140A>G,p.N47S |
| NSMCE1(NM_145080,non-SMC element 1 homolog (S. cerevisiae),266aa) | g.16:27246609C>T,c.148G>A,p.V50I |
| NSMCE1(NM_145080,non-SMC element 1 homolog (S. cerevisiae),266aa) | g.16:27246571A>C,c.186T>G,p.S62R |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59572148G>C,c.43C>G,p.L15V |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59520366G>A,c.721C>T,p.R241C |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59512582T>C,c.1281-2A>G,p.427Acceptor |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59512321G>C,c.1441C>G,p.P481A |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59508134T>C,c.1877A>G,p.Y626C |
| NSMAF(NM_003580,neutral sphingomyelinase (N-SMase) activation associated factor,917aa) | g.8:59502106G>A,c.2116C>T,p.R706C |