| 基因名 | 突变 |
|---|---|
| F10(NM_000504,coagulation factor X,488aa) | g.13:113795286G>A,c.424G>A,p.E142K |
| F10(NM_000504,coagulation factor X,488aa) | g.13:113783810A>C,c.115A>C,p.T39P |
| EZR(NM_003379,ezrin,586aa) | g.6:159210399T>C,c.17A>G,p.N6S |
| EZR(NM_003379,ezrin,586aa) | g.6:159206567G>A,c.241C>T,p.R81W |
| EZR(NM_003379,ezrin,586aa) | g.6:159206441C>T,c.367G>A,p.V123M |
| EZR(NM_003379,ezrin,586aa) | g.6:159190925C>T,c.1142G>A,p.R381Q |
| EZR(NM_003379,ezrin,586aa) | g.6:159190398C>T,c.1304G>A,p.R435Q |
| EZR(NM_003379,ezrin,586aa) | g.6:159188477G>A,c.1412C>T,p.P471L |
| EZR(NM_003379,ezrin,586aa) | g.6:159188475G>C,c.1414C>G,p.P472A |
| EZR(NM_003379,ezrin,586aa) | g.6:159188409C>G,c.1480G>C,p.A494P |
| EZR(NM_003379,ezrin,586aa) | g.6:159188408G>A,c.1481C>T,p.A494V |
| EZR(NM_003379,ezrin,586aa) | g.6:159188363C>T,c.1526G>A,p.R509Q |
| EZH2(NM_004456,enhancer of zeste homolog 2 (Drosophila),751aa) | g.7:148526845_148526847del,c.457_459del,p.153del |
| EZH2(NM_004456,enhancer of zeste homolog 2 (Drosophila),751aa) | g.7:148525904C>G,c.553G>C,p.D185H |
| EZH2(NM_004456,enhancer of zeste homolog 2 (Drosophila),751aa) | g.7:148525853C>T,c.604G>A,p.D202N |
| EZH1(NM_001991,enhancer of zeste homolog 1 (Drosophila),747aa) | g.17:40879697C>G,c.202G>C,p.V68L |
| EZH1(NM_001991,enhancer of zeste homolog 1 (Drosophila),747aa) | g.17:40864422G>A,c.1286C>T,p.S429L |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66204970C>T,c.334G>A,p.V112I |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66204945G>C,c.359C>G,p.T120R |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66204945G>A,c.359C>T,p.T120M |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66115255A>G,c.868T>C,p.F290L |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66115219G>A,c.904C>T,p.L302F |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66112410T>A,c.1145A>T,p.N382I |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66063428C>T,c.1382G>A,p.C461Y |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66063381A>G,c.1429T>C,p.F477L |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66054064T>A,c.1466A>T,p.E489V |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66053934T>G,c.1596A>C,p.K532N |
| EYS(NM_001142800,eyes shut homolog (Drosophila),3144aa) | g.6:66044927T>C,c.1712A>G,p.Q571R |