| 基因名 | 突变 |
|---|---|
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140772746A>T,c.366A>T,p.E122D |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140772573C>T,c.193C>T,p.R65C |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140772427T>G,c.47T>G,p.L16R |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140764604C>A,c.2138C>A,p.A713E |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140764394T>G,c.1928T>G,p.V643G |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140764367A>T,c.1901A>T,p.D634V |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140763665A>G,c.1199A>G,p.N400S |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140763370T>C,c.904T>C,p.S302P |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140763182C>T,c.716C>T,p.T239M |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140763100C>T,c.634C>T,p.L212F |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140763071G>C,c.605G>C,p.R202P |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140763029A>G,c.563A>G,p.E188G |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140762993G>A,c.527G>A,p.R176H |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140762972G>T,c.506G>T,p.S169I |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140762896G>A,c.430G>A,p.E144K |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140762837T>C,c.371T>C,p.I124T |
| PCDHGA7(NM_018920,protocadherin gamma subfamily A, 7,932aa) | g.5:140762554C>A,c.88C>A,p.R30S |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140756004A>G,c.2354A>G,p.Y785C |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755929C>G,c.2279C>G,p.T760S |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755901C>A,c.2251C>A,p.Q751K |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755882A>C,c.2232A>C,p.E744D |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755860G>C,c.2210G>C,p.G737A |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755803G>T,c.2153G>T,p.R718L |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755800A>G,c.2150A>G,p.Q717R |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755698A>T,c.2048A>T,p.K683I |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755661A>C,c.2011A>C,p.I671L |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755628C>G,c.1978C>G,p.L660V |
| PCDHGA6(NM_018919,protocadherin gamma subfamily A, 6,932aa) | g.5:140755610C>T,c.1960C>T,p.L654F |