| 基因名 | 突变 |
|---|---|
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140867123A>G,c.2383A>G,p.M795V |
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140867087G>A,c.2347G>A,p.D783N |
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140866890G>A,c.2150G>A,p.R717H |
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140866832G>C,c.2092G>C,p.V698L |
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140866608G>A,c.1868G>A,p.R623Q |
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140866067C>T,c.1327C>T,p.L443F |
| PCDHGC4(NM_018928,protocadherin gamma subfamily C, 4,938aa) | g.5:140865264A>G,c.524A>G,p.N175S |
| PCDHGC3(NM_002588,protocadherin gamma subfamily C, 3,934aa) | g.5:140857775C>G,c.2092C>G,p.L698V |
| PCDHGC3(NM_002588,protocadherin gamma subfamily C, 3,934aa) | g.5:140857010G>T,c.1327G>T,p.V443L |
| PCDHGC3(NM_002588,protocadherin gamma subfamily C, 3,934aa) | g.5:140856363G>A,c.680G>A,p.S227N |
| PCDHGC3(NM_002588,protocadherin gamma subfamily C, 3,934aa) | g.5:140855954C>G,c.271C>G,p.R91G |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140799812G>A,c.2386G>A,p.V796I |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140799180G>T,c.1754G>T,p.G585V |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140798639G>C,c.1213G>C,p.V405L |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140798450G>A,c.1024G>A,p.D342N |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140798156C>G,c.730C>G,p.Q244E |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140797664C>G,c.238C>G,p.Q80E |
| PCDHGB7(NM_018927,protocadherin gamma subfamily B, 7,929aa) | g.5:140797619G>A,c.193G>A,p.E65K |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140790021C>T,c.2252C>T,p.S751F |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140789933G>A,c.2164G>A,p.A722T |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140789819C>T,c.2050C>T,p.P684S |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140789404C>G,c.1635C>G,p.N545K |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140789304G>C,c.1535G>C,p.G512A |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140788731C>T,c.962C>T,p.A321V |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140788592G>T,c.823G>T,p.A275S |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140788107C>T,c.338C>T,p.P113L |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140788013G>A,c.244G>A,p.G82R |
| PCDHGB6(NM_018926,protocadherin gamma subfamily B, 6,930aa) | g.5:140787964G>C,c.195G>C,p.K65N |