| 基因名 | 突变 |
|---|---|
| EVI5(NM_005665,ecotropic viral integration site 5,810aa) | g.1:93070928C>T,c.1958G>A,p.R653Q |
| EVI5(NM_005665,ecotropic viral integration site 5,810aa) | g.1:92979410T>C,c.2236A>G,p.I746V |
| EVI5L(NM_145245,ecotropic viral integration site 5-like,794aa) | g.19:7916597G>A,c.928G>A,p.A310T |
| EVI2B(NM_006495,ecotropic viral integration site 2B,448aa) | g.17:29632309T>C,c.319A>G,p.K107E |
| EVI2B(NM_006495,ecotropic viral integration site 2B,448aa) | g.17:29631973T>C,c.655A>G,p.I219V |
| EVI2B(NM_006495,ecotropic viral integration site 2B,448aa) | g.17:29631832G>A,c.796C>T,p.R266C |
| EVI2B(NM_006495,ecotropic viral integration site 2B,448aa) | g.17:29631651A>G,c.977T>C,p.V326A |
| EVI2A(NM_001003927,ecotropic viral integration site 2A,259aa) | g.17:29645994T>C,c.107A>G,p.H36R |
| EVI2A(NM_001003927,ecotropic viral integration site 2A,259aa) | g.17:29645538G>T,c.563C>A,p.S188Y |
| EVI2A(NM_001003927,ecotropic viral integration site 2A,259aa) | g.17:29645505T>C,c.596A>G,p.Q199R |
| EVI2A(NM_001003927,ecotropic viral integration site 2A,259aa) | g.17:29645473C>T,c.628G>A,p.G210S |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5812117A>G,c.2834A>G,p.D945G |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5809990A>T,c.2624A>T,p.H875L |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5806556C>T,c.2549C>T,p.A850V |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5803735G>A,c.2363G>A,p.R788H |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5803707G>A,c.2335G>A,p.V779I |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5800494G>A,c.2279G>A,p.R760Q |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5800491G>A,c.2276G>A,p.S759N |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5798903G>A,c.2041G>A,p.E681K |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5798825G>A,c.1963G>A,p.A655T |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5798790G>A,c.1928G>A,p.R643H |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5795384G>A,c.1826G>A,p.R609Q |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5785442G>A,c.1727G>A,p.R576Q |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5758066G>A,c.1540G>A,p.E514K |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5758054G>A,c.1528G>A,p.V510I |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5755644C>T,c.1448C>T,p.P483L |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5755565G>A,c.1369G>A,p.E457K |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5755542C>A,c.1346C>A,p.T449K |