| 基因名 | 突变 |
|---|---|
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28275598G>A,c.298G>A,p.D100N |
| SMPDL3B(NM_014474,sphingomyelin phosphodiesterase, acid-like 3B,455aa) | g.1:28271781G>A,c.100G>A,p.D34N |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123130525A>G,c.1334A>G,p.K445R |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123127486G>A,c.1028G>A,p.R343H |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123126192C>T,c.877C>T,p.H293Y |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123126106T>G,c.791T>G,p.I264S |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123124942A>C,c.702A>C,p.E234D |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123122552G>A,c.568+1G>A,p.190Donor |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123122464C>T,c.481C>T,p.P161S |
| SMPDL3A(NM_006714,sphingomyelin phosphodiesterase, acid-like 3A,453aa) | g.6:123110537C>T,c.46C>T,p.H16Y |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130939163G>T,c.12C>A,p.F4L |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130931151G>A,c.322C>T,p.R108C |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130914959G>A,c.1079C>T,p.T360M |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130914181G>A,c.1282C>T,p.P428S |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130913666C>T,c.1348G>A,p.A450T |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130912720G>A,c.1519C>T,p.R507X |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130911372T>C,c.1913A>G,p.Y638C |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130911289G>A,c.1996C>T,p.R666C |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130910924C>T,c.2110G>A,p.G704R |
| SMPD4(NM_017951,sphingomyelin phosphodiesterase 4, neutral membrane (neutral sphingomyelinase-3),866aa) | g.2:130910680C>T,c.2207G>A,p.R736Q |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68405673G>A,c.412C>T,p.L138F |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68405360G>T,c.725C>A,p.A242D |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68405307C>T,c.778G>A,p.D260N |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68405190G>A,c.895C>T,p.R299W |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68405079G>A,c.1006C>T,p.R336C |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68404908C>T,c.1177G>A,p.G393S |
| SMPD3(NM_018667,sphingomyelin phosphodiesterase 3, neutral membrane (neutral sphingomyelinase II),655aa) | g.16:68395522C>T,c.1850G>A,p.C617Y |
| SMPD2(NM_003080,sphingomyelin phosphodiesterase 2, neutral membrane (neutral sphingomyelinase),423aa) | g.6:109765040C>G,c.1204C>G,p.L402V |