| 基因名 | 突变 |
|---|---|
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5633647T>C,c.1343A>G,p.Q448R |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5630442A>G,c.1490T>C,p.M497T |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5630349C>T,c.1583G>A,p.R528H |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5630290C>T,c.1642G>A,p.E548K |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5627634C>T,c.1648G>A,p.A550T |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5624705C>T,c.1820G>A,p.R607H |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5624670T>C,c.1855A>G,p.T619A |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5624402G>A,c.2123C>T,p.A708V |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5624349C>T,c.2176G>A,p.V726M |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5624286G>A,c.2239C>T,p.R747C |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5620296C>T,c.2375G>A,p.R792Q |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5620268C>G,c.2403G>C,p.Q801H |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5620263G>A,c.2408C>T,p.A803V |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5620257C>T,c.2414G>A,p.R805Q |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5617239C>G,c.2499G>C,p.K833N |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5586544G>A,c.2623C>T,p.R875W |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5586543C>T,c.2624G>A,p.R875Q |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5586478G>A,c.2689C>T,p.R897W |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5586384G>A,c.2783C>T,p.S928L |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5586367G>C,c.2800C>G,p.L934V |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5578101G>C,c.2898C>G,p.S966R |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5570346G>T,c.3142C>A,p.L1048M |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5570315G>A,c.3173C>T,p.T1058M |
| EVC2(NM_001166136,Ellis van Creveld syndrome 2,1228aa) | g.4:5570184C>T,c.3304G>A,p.V1102M |
| EVA1C(NM_058187,eva-1 homolog C (C. elegans),441aa) | g.21:33887469C>T,c.1295C>T,p.S432L |
| EVA1C(NM_058187,eva-1 homolog C (C. elegans),441aa) | g.21:33887355G>T,c.1181G>T,p.C394F |
| EVA1C(NM_058187,eva-1 homolog C (C. elegans),441aa) | g.21:33887318T>A,c.1144T>A,p.S382T |
| EVA1C(NM_058187,eva-1 homolog C (C. elegans),441aa) | g.21:33887228C>T,c.1054C>T,p.R352C |