| 基因名 | 突变 |
|---|---|
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154925C>T,c.424G>A,p.V142I |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154910G>A,c.439C>T,p.P147S |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154697C>G,c.568G>C,p.G190R |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154676C>T,c.589G>A,p.V197I |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154282G>A,c.820C>T,p.R274W |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154281C>T,c.821G>A,p.R274Q |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154257C>G,c.845G>C,p.S282T |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154222G>A,c.880C>T,p.P294S |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145154099G>C,c.932C>G,p.P311R |
| SHARPIN(NM_030974,SHANK-associated RH domain interactor,387aa) | g.8:145153851C>T,c.1094G>A,p.R365H |
| SHANK3(NM_033517,SH3 and multiple ankyrin repeat domains 3,1717aa) | g.22:51159778G>A,c.3475G>A,p.A1159T |
| SHANK3(NM_033517,SH3 and multiple ankyrin repeat domains 3,1717aa) | g.22:51153371G>A,c.2119G>A,p.A707T |
| SHANK3(NM_033517,SH3 and multiple ankyrin repeat domains 3,1717aa) | g.22:51143462G>A,c.1925G>A,p.R642H |
| SHANK3(NM_033517,SH3 and multiple ankyrin repeat domains 3,1717aa) | g.22:51121780C>T,c.898C>T,p.R300C |
| SHANK3(NM_033517,SH3 and multiple ankyrin repeat domains 3,1717aa) | g.22:51117580T>C,c.734T>C,p.I245T |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51219998C>T,c.179G>A,p.R60H |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51206988G>T,c.1322C>A,p.T441N |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51205831C>T,c.1640G>A,p.R547Q |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51192120A>G,c.2153T>C,p.M718T |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51172526G>C,c.2691C>G,p.D897E |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51170706A>G,c.4511T>C,p.V1504A |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51169830C>T,c.5387G>A,p.G1796E |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51169797G>A,c.5420C>T,p.P1807L |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51169485T>C,c.5732A>G,p.Y1911C |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51165821C>T,c.5887G>A,p.A1963T |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51165775G>A,c.5933C>T,p.T1978M |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51165752C>T,c.5956G>A,p.V1986M |
| SHANK1(NM_016148,SH3 and multiple ankyrin repeat domains 1,2161aa) | g.19:51165632C>T,c.6076G>A,p.G2026R |