| 基因名 | 突变 |
|---|---|
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144875154G>A,c.4009C>T,p.P1337S |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144874959G>A,c.4096C>T,p.R1366C |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144874898C>T,c.4157G>A,p.R1386Q |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144874083T>C,c.4658A>G,p.D1553G |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144874078C>T,c.4663G>A,p.G1555S |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144874056G>A,c.4685C>T,p.P1562L |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144873475G>A,c.4826C>T,p.P1609L |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144873405T>A,c.4896A>T,p.E1632D |
| SCRIB(NM_182706,scribbled planar cell polarity protein,1655aa) | g.8:144873362G>A,c.4939C>T,p.R1647C |
| SCRG1(NM_007281,stimulator of chondrogenesis 1,98aa) | g.4:174312441G>A,c.125C>T,p.P42L |
| SCPEP1(NM_021626,serine carboxypeptidase 1,452aa) | g.17:55075766G>A,c.901G>A,p.V301M |
| SCPEP1(NM_021626,serine carboxypeptidase 1,452aa) | g.17:55072931G>A,c.721G>A,p.V241I |
| SCPEP1(NM_021626,serine carboxypeptidase 1,452aa) | g.17:55065622G>A,c.517G>A,p.A173T |
| SCPEP1(NM_021626,serine carboxypeptidase 1,452aa) | g.17:55065126G>A,c.386G>A,p.G129D |
| SCPEP1(NM_021626,serine carboxypeptidase 1,452aa) | g.17:55058558C>A,c.192C>A,p.N64K |
| SCPEP1(NM_021626,serine carboxypeptidase 1,452aa) | g.17:55055527C>G,c.7C>G,p.L3V |
| SCP2(NM_002979,sterol carrier protein 2,547aa) | g.1:53513608C>T,c.1547C>T,p.S516L |
| SCP2(NM_002979,sterol carrier protein 2,547aa) | g.1:53493685C>G,c.1280C>G,p.A427G |
| SCP2(NM_002979,sterol carrier protein 2,547aa) | g.1:53480714A>G,c.1234A>G,p.S412G |
| SCP2(NM_002979,sterol carrier protein 2,547aa) | g.1:53446126C>A,c.884C>A,p.T295K |
| SCP2(NM_002979,sterol carrier protein 2,547aa) | g.1:53443945A>G,c.731A>G,p.K244R |
| SCP2(NM_002979,sterol carrier protein 2,547aa) | g.1:53416541G>A,c.314G>A,p.R105H |
| SCP2D1(NM_178483,SCP2 sterol-binding domain containing 1,156aa) | g.20:18794754C>T,c.295C>T,p.P99S |
| SCP2D1(NM_178483,SCP2 sterol-binding domain containing 1,156aa) | g.20:18794463T>A,c.4T>A,p.W2R |
| SCO2(NM_001169109,SCO2 cytochrome c oxidase assembly protein,266aa) | g.22:50962782C>G,c.59G>C,p.R20P |
| SCO2(NM_001169109,SCO2 cytochrome c oxidase assembly protein,266aa) | g.22:50962668C>T,c.173G>A,p.R58Q |
| SCO2(NM_001169109,SCO2 cytochrome c oxidase assembly protein,266aa) | g.22:50962507G>A,c.334C>T,p.R112W |
| SCO2(NM_001169109,SCO2 cytochrome c oxidase assembly protein,266aa) | g.22:50962483G>A,c.358C>T,p.R120W |