| 基因名 | 突变 |
|---|---|
| ECE1(NM_001113347,endothelin converting enzyme 1,758aa) | g.1:21551798C>T,c.1949G>A,p.R650Q |
| ECE1(NM_001113347,endothelin converting enzyme 1,758aa) | g.1:21546474G>C,c.2251C>G,p.P751A |
| ECE1(NM_001113347,endothelin converting enzyme 1,758aa) | g.1:21546459C>T,c.2266G>A,p.E756K |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74923710_74923711del,c.-13-2del,p.5'UTRAcceptordel |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74923670G>T,c.26C>A,p.T9K |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74923562C>T,c.134G>A,p.R45Q |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74916135G>A,c.488C>T,p.T163I |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74912070T>C,c.893A>G,p.H298R |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74899468T>A,c.1254A>T,p.E418D |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74899395C>T,c.1327G>A,p.E443K |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74899134C>G,c.1453G>C,p.E485Q |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74897784A>C,c.1565T>G,p.L522R |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74896664T>C,c.1601A>G,p.N534S |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74896655T>G,c.1610A>C,p.D537A |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74896547T>A,c.1718A>T,p.D573V |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74894550C>T,c.1825G>A,p.D609N |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74894526A>C,c.1849T>G,p.S617A |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74894375T>C,c.2000A>G,p.D667G |
| ECD(NM_001135752,ecdysoneless homolog (Drosophila),677aa) | g.10:74894345del,c.2030del,p.677fs |
| EBP(NM_006579,emopamil binding protein (sterol isomerase),230aa) | g.X:48386664G>A,c.512G>A,p.R171H |
| EBP(NM_006579,emopamil binding protein (sterol isomerase),230aa) | g.X:48386663C>T,c.511C>T,p.R171C |
| EBP(NM_006579,emopamil binding protein (sterol isomerase),230aa) | g.X:48382441A>C,c.282A>C,p.Q94H |
| EBPL(NM_001278636,emopamil binding protein-like,134aa) | g.13:50237254C>A,c.319G>T,p.A107S |
| EBNA1BP2(NM_001159936,EBNA1 binding protein 2,361aa) | g.1:43637597T>C,c.275A>G,p.N92S |
| EBNA1BP2(NM_001159936,EBNA1 binding protein 2,361aa) | g.1:43637246G>C,c.392C>G,p.P131R |
| EBNA1BP2(NM_001159936,EBNA1 binding protein 2,361aa) | g.1:43632536C>T,c.833G>A,p.R278H |
| EBNA1BP2(NM_001159936,EBNA1 binding protein 2,361aa) | g.1:43630460G>A,c.889C>T,p.R297W |
| EBNA1BP2(NM_001159936,EBNA1 binding protein 2,361aa) | g.1:43630339del,c.1010del,p.337fs |