| 基因名 | 突变 |
|---|---|
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140718683G>A,c.145G>A,p.A49T |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140718566T>C,c.28T>C,p.C10R |
| PCDHGA2(NM_018915,protocadherin gamma subfamily A, 2,932aa) | g.5:140718552A>G,c.14A>G,p.Q5R |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140712586C>T,c.2335C>T,p.L779F |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140712341C>T,c.2090C>T,p.A697V |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140712299A>T,c.2048A>T,p.K683I |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140712256T>C,c.2005T>C,p.S669P |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140711954C>G,c.1703C>G,p.P568R |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140711446G>A,c.1195G>A,p.D399N |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140711097C>G,c.846C>G,p.H282Q |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140711068G>A,c.817G>A,p.A273T |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140710810G>A,c.559G>A,p.D187N |
| PCDHGA1(NM_018912,protocadherin gamma subfamily A, 1,931aa) | g.5:140710705G>A,c.454G>A,p.V152I |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140812467T>A,c.2141T>A,p.L714H |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140812454T>G,c.2128T>G,p.L710V |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140812439C>A,c.2113C>A,p.L705M |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140812178T>G,c.1852T>G,p.S618A |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140812064C>G,c.1738C>G,p.R580G |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140812002C>A,c.1676C>A,p.A559E |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140811854G>A,c.1528G>A,p.D510N |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140811344G>T,c.1018G>T,p.V340L |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140811030C>T,c.704C>T,p.A235V |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140811020G>A,c.694G>A,p.V232I |
| PCDHGA12(NM_003735,protocadherin gamma subfamily A, 12,932aa) | g.5:140810867A>G,c.541A>G,p.I181V |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140803024G>A,c.2230G>A,p.V744M |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140802733G>A,c.1939G>A,p.V647I |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140802677G>A,c.1883G>A,p.R628H |
| PCDHGA11(NM_018914,protocadherin gamma subfamily A, 11,935aa) | g.5:140802490C>T,c.1696C>T,p.P566S |