| 基因名 | 突变 |
|---|---|
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140730158A>G,c.331A>G,p.M111V |
| PCDHGB1(NM_018922,protocadherin gamma subfamily B, 1,927aa) | g.5:140729999G>C,c.172G>C,p.E58Q |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784942C>T,c.2423C>T,p.P808L |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784913G>T,c.2394G>T,p.K798N |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784896G>A,c.2377G>A,p.V793I |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784695C>T,c.2176C>T,p.R726W |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784684C>T,c.2165C>T,p.S722L |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784435A>G,c.1916A>G,p.K639R |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784258G>T,c.1739G>T,p.R580L |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784254C>T,c.1735C>T,p.P579S |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140784141C>G,c.1622C>G,p.P541R |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140783900C>T,c.1381C>T,p.L461F |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140783334G>C,c.815G>C,p.G272A |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140783285C>T,c.766C>T,p.P256S |
| PCDHGA9(NM_018921,protocadherin gamma subfamily A, 9,932aa) | g.5:140783184G>A,c.665G>A,p.R222H |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140774749C>T,c.2369C>T,p.S790F |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140774689T>C,c.2309T>C,p.F770S |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140774268C>T,c.1888C>T,p.R630X |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773888C>G,c.1508C>G,p.S503W |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773812G>A,c.1432G>A,p.D478N |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773738C>T,c.1358C>T,p.P453L |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773719G>A,c.1339G>A,p.D447N |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773510G>A,c.1130G>A,p.G377E |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773111A>G,c.731A>G,p.H244R |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773081A>T,c.701A>T,p.D234V |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140773042C>G,c.662C>G,p.P221R |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140772941T>G,c.561T>G,p.N187K |
| PCDHGA8(NM_032088,protocadherin gamma subfamily A, 8,932aa) | g.5:140772899del,c.519del,p.173fs |