| 基因名 | 突变 |
|---|---|
| SPHKAP(NM_001142644,SPHK1 interactor, AKAP domain containing,1700aa) | g.2:228846564C>G,c.4972G>C,p.V1658L |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49133020G>A,c.1955G>A,p.R652Q |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49132867G>C,c.1802G>C,p.G601A |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49132655C>G,c.1590C>G,p.D530E |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49132581G>T,c.1516G>T,p.A506S |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49132534del,c.1469del,p.490fs |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49132035G>T,c.970G>T,p.A324S |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49129605T>G,c.497T>G,p.L166R |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49129169G>A,c.61G>A,p.G21R |
| SPHK2(NM_020126,sphingosine kinase 2,654aa) | g.19:49123796G>A,c.25G>A,p.E9K |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74383648C>T,c.1394C>T,p.P465L |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74383602G>A,c.1348G>A,p.G450S |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74383560G>A,c.1306G>A,p.V436M |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74383554G>A,c.1300G>A,p.E434K |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74383509G>A,c.1255G>A,p.D419N |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74383210C>T,c.956C>T,p.P319L |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74381682C>T,c.215C>T,p.T72I |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74381567G>A,c.100G>A,p.A34T |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74381562C>T,c.95C>T,p.A32V |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74381562C>A,c.95C>A,p.A32D |
| SPHK1(NM_182965,sphingosine kinase 1,470aa) | g.17:74381555G>A,c.88G>A,p.A30T |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89623301A>G,c.2188A>G,p.N730D |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89620328G>A,c.2063G>A,p.R688Q |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89616924C>G,c.1686C>G,p.I562M |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89613145C>T,c.1529C>T,p.A510V |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89613139G>A,c.1523G>A,p.R508H |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89613123A>G,c.1507A>G,p.T503A |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89613073G>A,c.1457G>A,p.R486Q |