| 基因名 | 突变 |
|---|---|
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5755529A>C,c.1333A>C,p.K445Q |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5755524G>A,c.1328G>A,p.R443Q |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5755516T>A,c.1320T>A,p.F440L |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5754591C>T,c.1127C>T,p.A376V |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5754579C>T,c.1115C>T,p.T372M |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5749975C>T,c.1040C>T,p.T347M |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5749917C>T,c.982C>T,p.L328F |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5747063G>A,c.934G>A,p.D312N |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5746986C>T,c.857C>T,p.S286L |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5743512T>C,c.772T>C,p.Y258H |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5733336G>T,c.569G>T,p.R190L |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5733240C>G,c.473C>G,p.S158C |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5733236C>G,c.469C>G,p.P157A |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5731074C>T,c.341C>T,p.A114V |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5721084A>G,c.284A>G,p.D95G |
| EVC(NM_153717,Ellis van Creveld syndrome,992aa) | g.4:5721021A>C,c.221A>C,p.Q74P |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5696078G>T,c.194C>A,p.P65H |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5690902T>C,c.448A>G,p.S150G |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5690898T>C,c.452A>G,p.K151R |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5687173G>A,c.500C>T,p.T167M |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5687104G>A,c.569C>T,p.S190L |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5664939G>A,c.800C>T,p.P267L |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5642543G>A,c.928C>T,p.R310W |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5642542C>T,c.929G>A,p.R310Q |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5642516G>A,c.955C>T,p.R319X |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5642347G>C,c.1124C>G,p.T375R |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5642249C>T,c.1222G>A,p.G408S |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5633752A>G,c.1238T>C,p.V413A |