| 基因名 | 突变 |
|---|---|
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89611118G>A,c.1387G>A,p.G463S |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89598369G>A,c.1045G>A,p.G349S |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89592774T>C,c.656T>C,p.I219T |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89592756G>A,c.638G>A,p.R213Q |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89590615A>G,c.578A>G,p.E193G |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89590608G>A,c.571G>A,p.V191M |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89590584G>A,c.547G>A,p.V183I |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89579416C>T,c.347C>T,p.S116L |
| SPG7(NM_003119,spastic paraplegia 7 (pure and complicated autosomal recessive),795aa) | g.16:89576947T>A,c.233T>A,p.L78X |
| SPG21(NM_016630,spastic paraplegia 21 (autosomal recessive, Mast syndrome),308aa) | g.15:65273363T>C,c.64A>G,p.I22V |
| SPG21(NM_016630,spastic paraplegia 21 (autosomal recessive, Mast syndrome),308aa) | g.15:65273323T>C,c.104A>G,p.Y35C |
| SPG21(NM_016630,spastic paraplegia 21 (autosomal recessive, Mast syndrome),308aa) | g.15:65262475C>T,c.538G>A,p.A180T |
| SPG20(NM_015087,spastic paraplegia 20 (Troyer syndrome),666aa) | g.13:36909607C>A,c.361G>T,p.D121Y |
| SPG20(NM_015087,spastic paraplegia 20 (Troyer syndrome),666aa) | g.13:36900828T>C,c.1172A>G,p.D391G |
| SPG20(NM_015087,spastic paraplegia 20 (Troyer syndrome),666aa) | g.13:36888471C>T,c.1376G>A,p.R459Q |
| SPG20(NM_015087,spastic paraplegia 20 (Troyer syndrome),666aa) | g.13:36886360A>C,c.1655T>G,p.V552G |
| SPG20(NM_015087,spastic paraplegia 20 (Troyer syndrome),666aa) | g.13:36886318T>C,c.1697A>G,p.N566S |
| SPG20(NM_015087,spastic paraplegia 20 (Troyer syndrome),666aa) | g.13:36878734G>A,c.1769C>T,p.A590V |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44955830C>T,c.16G>A,p.G6R |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44955823G>C,c.23C>G,p.A8G |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44955782T>C,c.64A>G,p.M22V |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44952635T>C,c.437A>G,p.D146G |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44949425C>T,c.737G>A,p.C246Y |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44949354C>T,c.808G>A,p.V270I |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44949329T>C,c.833A>G,p.N278S |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44944366T>C,c.968A>G,p.Y323C |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44944037C>T,c.1108G>A,p.E370K |
| SPG11(NM_025137,spastic paraplegia 11 (autosomal recessive),2443aa) | g.15:44943958T>C,c.1187A>G,p.Y396C |