| 基因名 | 突变 |
|---|---|
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25284759A>C,c.263T>G,p.V88G |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25284706_25284707insA,c.315_316insT,p.105fs |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25284654G>A,c.368C>T,p.P123L |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25279456T>C,c.530A>G,p.Q177R |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25279418C>T,c.568G>A,p.D190N |
| ENKUR(NM_145010,enkurin, TRPC channel interacting protein,256aa) | g.10:25273744T>C,c.685A>G,p.R229G |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67700102G>C,c.152C>G,p.T51S |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67699054G>A,c.298C>T,p.H100Y |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67697922C>T,c.497G>A,p.R166Q |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67697633C>T,c.670G>A,p.A224T |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67697448C>T,c.755G>A,p.R252H |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67697373G>A,c.830C>T,p.T277M |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67697370C>T,c.833G>A,p.R278H |
| ENKD1(NM_032140,enkurin domain containing 1,346aa) | g.16:67697180C>T,c.925G>A,p.A309T |
| ENHO(NM_198573,energy homeostasis associated,76aa) | g.9:34521576C>T,c.118G>A,p.D40N |
| ENHO(NM_198573,energy homeostasis associated,76aa) | g.9:34521478G>A,c.216C>T,p.Y72Y |
| ENG(NM_000118,endoglin,625aa) | g.9:130616621G>A,c.14C>T,p.T5M |
| ENG(NM_000118,endoglin,625aa) | g.9:130605374G>A,c.218C>T,p.T73M |
| ENG(NM_000118,endoglin,625aa) | g.9:130591982G>A,c.344C>T,p.P115L |
| ENG(NM_000118,endoglin,625aa) | g.9:130588920G>A,c.392C>T,p.P131L |
| ENG(NM_000118,endoglin,625aa) | g.9:130588091C>T,c.572G>A,p.G191D |
| ENG(NM_000118,endoglin,625aa) | g.9:130587118G>T,c.952C>A,p.P318T |
| ENG(NM_000118,endoglin,625aa) | g.9:130586621C>G,c.1096G>C,p.D366H |
| ENG(NM_000118,endoglin,625aa) | g.9:130581107T>G,c.1316A>C,p.K439T |
| ENG(NM_000118,endoglin,625aa) | g.9:130580638C>T,c.1447G>A,p.V483I |
| ENG(NM_000118,endoglin,625aa) | g.9:130579457C>T,c.1712G>A,p.R571H |
| ENG(NM_000118,endoglin,625aa) | g.9:130578230G>A,c.1844C>T,p.S615L |
| ENGASE(NM_001042573,endo-beta-N-acetylglucosaminidase,743aa) | g.17:77082390G>A,c.2191G>A,p.E731K |