| 基因名 | 突变 |
|---|---|
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44943797T>C,c.1348A>G,p.I450V |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44943757A>G,c.1388T>C,p.F463S |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44925740A>C,c.1698T>G,p.D566E |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44918690C>T,c.2083G>A,p.A695T |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44912566A>G,c.2656T>C,p.Y886H |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44907562T>C,c.3037A>G,p.K1013E |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44905705T>C,c.3068A>G,p.E1023G |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44905697_44905698insT,c.3075_3076insA,p.1025fs |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44900775C>G,c.3320G>C,p.C1107S |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44884629G>A,c.4643C>T,p.P1548L |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44876623del,c.5255del,p.1752fs |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44867131C>T,c.5975G>A,p.R1992Q |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44865000T>C,c.6224A>G,p.N2075S |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44864940A>G,c.6284T>C,p.L2095S |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44864905C>T,c.6319G>A,p.V2107I |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44862790C>T,c.6410G>A,p.R2137Q |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44862776C>T,c.6424G>A,p.A2142T |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44858174G>A,c.6877C>T,p.R2293W |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44858159T>C,c.6892A>G,p.I2298V |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44856764A>G,c.7132T>C,p.F2378L |
| SPESP1(NM_145658,sperm equatorial segment protein 1,350aa) | g.15:69238924T>G,c.1051T>G,p.X351E |
| SPESP1(NM_145658,sperm equatorial segment protein 1,350aa) | g.15:69238445G>A,c.572G>A,p.G191E |
| SPESP1(NM_145658,sperm equatorial segment protein 1,350aa) | g.15:69238272G>T,c.399G>T,p.L133F |
| SPESP1(NM_145658,sperm equatorial segment protein 1,350aa) | g.15:69238196C>T,c.323C>T,p.P108L |
| SPERT(NM_152719,spermatid associated,448aa) | g.13:46288145A>G,c.985A>G,p.K329E |
| SPERT(NM_152719,spermatid associated,448aa) | g.13:46288017C>A,c.857C>A,p.S286X |
| SPERT(NM_152719,spermatid associated,448aa) | g.13:46287995G>A,c.835G>A,p.E279K |
| SPERT(NM_152719,spermatid associated,448aa) | g.13:46287707C>A,c.547C>A,p.R183S |