| 基因名 | 突变 |
|---|---|
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138363727C>T,c.64G>A,p.A22T |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138347869C>T,c.295G>A,p.V99I |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138344720G>A,c.359C>T,p.S120L |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138333869G>T,c.548C>A,p.A183E |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138333819C>T,c.598G>A,p.G200R |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138329572G>A,c.679C>T,p.R227W |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138329520C>T,c.731G>A,p.R244H |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138314859_138314861del,c.796_798del,p.266del |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138312915C>T,c.1057G>A,p.G353S |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138312122A>C,c.1154T>G,p.F385C |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138305852C>A,c.1292G>T,p.G431V |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138281188T>C,c.1441A>G,p.I481V |
| SVOPL(NM_001139456,SVOP-like,492aa) | g.7:138279366G>T,c.1468C>A,p.Q490K |
| SVIP(NM_148893,small VCP/p97-interacting protein,77aa) | g.11:22851270C>T,c.25G>A,p.G9R |
| SVIP(NM_148893,small VCP/p97-interacting protein,77aa) | g.11:22848820C>A,c.152G>T,p.R51I |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29839787A>G,c.566T>C,p.V189A |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29839731C>A,c.622G>T,p.G208C |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29822358T>C,c.938A>G,p.E313G |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29822154G>A,c.1142C>T,p.T381M |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29822073G>A,c.1223C>T,p.T408M |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29822032C>T,c.1264G>A,p.V422I |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29822026C>T,c.1270G>A,p.E424K |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29821947T>A,c.1349A>T,p.E450V |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29821801G>A,c.1495C>T,p.P499S |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29821758C>T,c.1538G>A,p.S513N |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29821714C>A,c.1582G>T,p.A528S |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29821683G>A,c.1613C>T,p.S538L |
| SVIL(NM_021738,supervillin,2214aa) | g.10:29821660G>A,c.1636C>T,p.R546C |