| 基因名 | 突变 |
|---|---|
| EFNA5(NM_001962,ephrin-A5,228aa) | g.5:106722966C>T,c.535G>A,p.D179N |
| EFNA5(NM_001962,ephrin-A5,228aa) | g.5:106716975G>A,c.668C>T,p.A223V |
| EFNA4(NM_005227,ephrin-A4,201aa) | g.1:155039441C>A,c.349C>A,p.P117T |
| EFNA3(NM_004952,ephrin-A3,238aa) | g.1:155058663G>A,c.568G>A,p.V190M |
| EFNA3(NM_004952,ephrin-A3,238aa) | g.1:155057650T>C,c.212T>C,p.V71A |
| EFNA3(NM_004952,ephrin-A3,238aa) | g.1:155057646_155057657del,c.208_219del,p.70_73del |
| EFNA1(NM_004428,ephrin-A1,205aa) | g.1:155106227A>T,c.476A>T,p.D159V |
| EFNA1(NM_004428,ephrin-A1,205aa) | g.1:155103859A>G,c.137A>G,p.Y46C |
| EFNA1(NM_004428,ephrin-A1,205aa) | g.1:155103819C>T,c.97C>T,p.R33W |
| EFHD2(NM_024329,EF-hand domain family, member D2,240aa) | g.1:15753662G>A,c.473G>A,p.R158H |
| EFHD2(NM_024329,EF-hand domain family, member D2,240aa) | g.1:15736601C>T,c.134C>T,p.A45V |
| EFHD1(NM_025202,EF-hand domain family, member D1,239aa) | g.2:233546412G>A,c.703G>A,p.A235T |
| EFHD1(NM_025202,EF-hand domain family, member D1,239aa) | g.2:233537125A>G,c.557A>G,p.K186R |
| EFHD1(NM_025202,EF-hand domain family, member D1,239aa) | g.2:233537071G>T,c.503G>T,p.G168V |
| EFHD1(NM_025202,EF-hand domain family, member D1,239aa) | g.2:233537043G>A,c.475G>A,p.A159T |
| EFHD1(NM_025202,EF-hand domain family, member D1,239aa) | g.2:233498506C>T,c.92C>T,p.A31V |
| EFHD1(NM_025202,EF-hand domain family, member D1,239aa) | g.2:233498431T>G,c.17T>G,p.L6R |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44171953T>C,c.92A>G,p.N31S |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44171875C>T,c.170G>A,p.C57Y |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44120533G>A,c.394C>T,p.R132W |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44120523C>T,c.404G>A,p.R135Q |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44101434G>A,c.1213C>T,p.R405C |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44094685G>T,c.1289C>A,p.S430Y |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44094618C>T,c.1356G>A,p.M452I |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44094566T>C,c.1408A>G,p.I470V |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44091888C>T,c.1459G>A,p.V487I |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44091831C>T,c.1516G>A,p.E506K |
| EFHC2(NM_025184,EF-hand domain (C-terminal) containing 2,749aa) | g.X:44091828C>G,c.1519G>C,p.E507Q |