| 基因名 | 突变 |
|---|---|
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23908405T>C,c.9610A>G,p.K3204E |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23907909A>G,c.10106T>C,p.V3369A |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23907834T>C,c.10181A>G,p.N3394S |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23907724C>G,c.10291G>C,p.V3431L |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23907106T>C,c.10909A>G,p.M3637V |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23907033G>A,c.10982C>T,p.A3661V |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23906983G>C,c.11032C>G,p.P3678A |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23906359T>C,c.11656A>G,p.R3886G |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23906235G>A,c.11780C>T,p.A3927V |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23905482G>A,c.12533C>T,p.P4178L |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23905047G>A,c.12968C>T,p.S4323L |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23904976T>C,c.13039A>G,p.I4347V |
| SACS(NM_014363,spastic ataxia of Charlevoix-Saguenay (sacsin),4579aa) | g.13:23904298T>G,c.13717A>C,p.N4573H |
| SACM1L(NM_014016,SAC1 suppressor of actin mutations 1-like (yeast),587aa) | g.3:45779136A>T,c.1301A>T,p.Y434F |
| SACM1L(NM_014016,SAC1 suppressor of actin mutations 1-like (yeast),587aa) | g.3:45776753A>G,c.1127A>G,p.Q376R |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64812155G>A,c.1033G>A,p.E345K |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64811994G>A,c.872G>A,p.R291Q |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64811951T>A,c.829T>A,p.F277I |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64811900C>T,c.778C>T,p.R260C |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64811802A>G,c.680A>G,p.N227S |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64809167A>G,c.403A>G,p.T135A |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64809090T>G,c.326T>G,p.L109R |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64809044C>T,c.280C>T,p.R94C |
| SAC3D1(NM_013299,SAC3 domain containing 1,358aa) | g.11:64808852C>T,c.88C>T,p.H30Y |
| SAAL1(NM_138421,serum amyloid A-like 1,474aa) | g.11:18127558_18127559insCGG,c.30_31insCCG,p.10_11ins1aa |
| SAAL1(NM_138421,serum amyloid A-like 1,474aa) | g.11:18127530_18127531insCCTCCT,c.58_59insAGGAGG,p.20ins2aa |
| SAAL1(NM_138421,serum amyloid A-like 1,474aa) | g.11:18127464C>T,c.125G>A,p.G42E |
| SAAL1(NM_138421,serum amyloid A-like 1,474aa) | g.11:18124885G>C,c.144C>G,p.S48R |