| 基因名 | 突变 |
|---|---|
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17570691G>A,c.1945G>A,p.V649M |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17567149G>A,c.1652G>A,p.R551H |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17565138A>C,c.1486A>C,p.S496R |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17559441T>A,c.1289T>A,p.I430N |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17559438G>A,c.1286G>A,p.R429Q |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17559399C>T,c.1247C>T,p.P416L |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17559338C>T,c.1186C>T,p.R396W |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17557127_17557128insC,c.1114_1115insC,p.372fs |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17555288_17555289insG,c.821_822insG,p.274fs |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17552584G>T,c.583G>T,p.D195Y |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17552573A>G,c.572A>G,p.D191G |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17552364G>A,c.467G>A,p.R156Q |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17550185G>A,c.343G>A,p.V115I |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17550167G>A,c.325G>A,p.V109M |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17548898C>T,c.206C>T,p.P69L |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17548865G>A,c.173G>A,p.R58H |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17548858C>T,c.166C>T,p.R56C |
| PADI1(NM_013358,peptidyl arginine deiminase, type I,663aa) | g.1:17531750T>C,c.38T>C,p.M13T |
| PACSIN3(NM_001184975,protein kinase C and casein kinase substrate in neurons 3,424aa) | g.11:47204083G>A,c.82C>T,p.R28W |
| PACSIN3(NM_001184975,protein kinase C and casein kinase substrate in neurons 3,424aa) | g.11:47203983G>A,c.182C>T,p.A61V |
| PACSIN3(NM_001184975,protein kinase C and casein kinase substrate in neurons 3,424aa) | g.11:47201041C>T,c.700G>A,p.A234T |
| PACSIN3(NM_001184975,protein kinase C and casein kinase substrate in neurons 3,424aa) | g.11:47199923G>A,c.1153C>T,p.R385X |
| PACSIN2(NM_001184970,protein kinase C and casein kinase substrate in neurons 2,486aa) | g.22:43287171C>T,c.235G>A,p.V79M |
| PACSIN2(NM_001184970,protein kinase C and casein kinase substrate in neurons 2,486aa) | g.22:43280444G>A,c.733C>T,p.R245W |
| PACSIN2(NM_001184970,protein kinase C and casein kinase substrate in neurons 2,486aa) | g.22:43280404G>T,c.773C>A,p.S258Y |
| PACSIN2(NM_001184970,protein kinase C and casein kinase substrate in neurons 2,486aa) | g.22:43280395G>A,c.782C>T,p.A261V |
| PACSIN2(NM_001184970,protein kinase C and casein kinase substrate in neurons 2,486aa) | g.22:43278230T>C,c.866A>G,p.N289S |
| PACSIN2(NM_001184970,protein kinase C and casein kinase substrate in neurons 2,486aa) | g.22:43275082C>T,c.1000G>A,p.D334N |