| 基因名 | 突变 |
|---|---|
| PCDHGA4(NM_018917,protocadherin gamma subfamily A, 4,962aa) | g.5:140734855C>G,c.181C>G,p.Q61E |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140725828C>T,c.2228C>T,p.A743V |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140725635G>A,c.2035G>A,p.E679K |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140725582C>T,c.1982C>T,p.T661I |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140725363T>C,c.1763T>C,p.V588A |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140725299C>T,c.1699C>T,p.L567F |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140724888C>G,c.1288C>G,p.P430A |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140724591G>T,c.991G>T,p.A331S |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140724544A>G,c.944A>G,p.Y315C |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140724124A>G,c.524A>G,p.N175S |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140724060A>C,c.460A>C,p.I154L |
| PCDHGA3(NM_018916,protocadherin gamma subfamily A, 3,932aa) | g.5:140723835C>T,c.235C>T,p.P79S |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720954T>C,c.2416T>C,p.F806L |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720936G>C,c.2398G>C,p.E800Q |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720586T>A,c.2048T>A,p.I683K |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720543C>T,c.2005C>T,p.P669S |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720516C>G,c.1978C>G,p.L660V |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720403A>G,c.1865A>G,p.H622R |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720358A>G,c.1820A>G,p.H607R |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140720142G>A,c.1604G>A,p.R535Q |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140719676G>A,c.1138G>A,p.A380T |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140719283A>T,c.745A>T,p.I249L |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140719224G>A,c.686G>A,p.C229Y |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140719191G>T,c.653G>T,p.G218V |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140719025G>C,c.487G>C,p.G163R |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140718994T>G,c.456T>G,p.I152M |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140718897A>G,c.359A>G,p.E120G |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140718750G>T,c.212G>T,p.R71M |