| 基因名 | 突变 |
|---|---|
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23929378G>A,c.1373C>T,p.T458I |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23929288G>A,c.1463C>T,p.P488L |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23928810C>A,c.1941G>T,p.K647N |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23928671C>T,c.2080G>A,p.A694T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23927963G>A,c.2146C>T,p.H716Y |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23915372C>G,c.2643G>C,p.E881D |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23915224T>A,c.2791A>T,p.N931Y |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23915032C>A,c.2983G>T,p.V995F |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23914588G>T,c.3427C>A,p.Q1143K |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23914263A>G,c.3752T>C,p.I1251T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23913939A>G,c.4076T>C,p.M1359T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23913760T>C,c.4255A>G,p.I1419V |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23913549T>C,c.4466A>G,p.N1489S |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23912793G>A,c.5222C>T,p.T1741I |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23912596C>T,c.5419G>A,p.E1807K |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23912554A>G,c.5461T>C,p.C1821R |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23911638A>G,c.6377T>C,p.I2126T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23911234G>T,c.6781C>A,p.L2261I |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23911063C>T,c.6952G>A,p.A2318T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23909676A>C,c.8339T>G,p.F2780C |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23909533T>C,c.8482A>G,p.S2828G |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23909436T>C,c.8579A>G,p.N2860S |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23909142T>C,c.8873A>G,p.K2958R |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23909067T>C,c.8948A>G,p.N2983S |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23908764A>G,c.9251T>C,p.I3084T |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23908716G>T,c.9299C>A,p.S3100Y |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23908628del,c.9387del,p.3129fs |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23908465G>A,c.9550C>T,p.R3184C |