| 基因名 | 突变 |
|---|---|
| SCRN2(NM_001145023,secernin 2,378aa) | g.17:45915766T>C,c.989A>G,p.Q330R |
| SCRN1(NM_001145513,secernin 1,414aa) | g.7:30008638G>A,c.46C>T,p.R16C |
| SCRN1(NM_001145513,secernin 1,414aa) | g.7:30008545C>T,c.139G>A,p.E47K |
| SCRN1(NM_001145513,secernin 1,414aa) | g.7:29994945C>G,c.191G>C,p.R64T |
| SCRN1(NM_001145513,secernin 1,414aa) | g.7:29980471C>T,c.566G>A,p.S189N |
| SCRN1(NM_001145513,secernin 1,414aa) | g.7:29966229T>C,c.925A>G,p.I309V |
| SCRN1(NM_001145513,secernin 1,414aa) | g.7:29966141T>C,c.1013A>G,p.Q338R |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144895820C>T,c.433G>A,p.G145R |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144893368G>A,c.1054C>T,p.P352S |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144893317G>A,c.1105C>T,p.R369C |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144893150G>A,c.1199C>T,p.T400M |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144893084G>A,c.1265C>T,p.P422L |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144892984C>T,c.1276G>A,p.D426N |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144892941G>A,c.1319C>T,p.A440V |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144892774C>T,c.1405G>A,p.G469S |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144891813G>C,c.1606C>G,p.P536A |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144891768C>T,c.1651G>A,p.A551T |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144890963C>A,c.1931G>T,p.G644V |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144890907C>T,c.1987G>A,p.E663K |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144890895C>T,c.1999G>A,p.G667S |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144890873A>T,c.2021T>A,p.V674E |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144886809C>T,c.2938G>A,p.G980R |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144886269C>T,c.3067G>A,p.D1023N |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144885669G>C,c.3487C>G,p.Q1163E |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144885597G>C,c.3559C>G,p.L1187V |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144877654T>G,c.3650A>C,p.H1217P |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144875184C>T,c.3979G>A,p.V1327M |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144875168G>A,c.3995C>T,p.P1332L |