| 基因名 | 突变 |
|---|---|
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74019453G>A,c.400C>T,p.R134C |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74018597T>C,c.503A>G,p.Y168C |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74018595C>G,c.505G>C,p.G169R |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74017964A>T,c.791T>A,p.V264E |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74017961C>T,c.794G>A,p.R265Q |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74017554G>T,c.1006C>A,p.R336S |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74015697G>A,c.1049C>T,p.A350V |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74014668T>C,c.1298A>G,p.Q433R |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74014634G>T,c.1332C>A,p.D444E |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74011145G>T,c.2074C>A,p.L692I |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74010607C>G,c.2273G>C,p.C758S |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74010541G>C,c.2339C>G,p.P780R |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74006403C>G,c.2883G>C,p.E961D |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74006285C>T,c.3001G>A,p.V1001M |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74006189C>T,c.3097G>A,p.A1033T |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74006156C>T,c.3130G>A,p.G1044R |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005981T>C,c.3305A>G,p.D1102G |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005973G>A,c.3313C>T,p.R1105W |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005880C>A,c.3406G>T,p.V1136L |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005871C>T,c.3415G>A,p.V1139M |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005802C>T,c.3484G>A,p.E1162K |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005763C>T,c.3523G>A,p.D1175N |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005700C>T,c.3586G>A,p.V1196I |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005409G>A,c.3877C>T,p.R1293C |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74005391C>T,c.3895G>A,p.D1299N |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74004613C>T,c.4673G>A,p.R1558Q |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74004589C>T,c.4697G>A,p.R1566Q |
| EVPL(NM_001988,envoplakin,2033aa) | g.17:74004574C>T,c.4712G>A,p.G1571E |