| 基因名 | 突变 |
|---|---|
| EPN2(NM_014964,epsin 2,641aa) | g.17:19188994G>T,c.657G>T,p.E219D |
| EPN2(NM_014964,epsin 2,641aa) | g.17:19186521A>G,c.89A>G,p.N30S |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56206311C>T,c.1742C>T,p.P581L |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56206137G>C,c.1568G>C,p.G523A |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56204400G>A,c.1519G>A,p.A507T |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56204322G>A,c.1441G>A,p.G481R |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56203229C>T,c.1130C>T,p.P377L |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56201249G>A,c.953G>A,p.R318H |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56197009C>T,c.809C>T,p.T270M |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56189953G>A,c.293G>A,p.R98H |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56189094G>A,c.226G>A,p.A76T |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56188985C>G,c.117C>G,p.H39Q |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56188968A>C,c.100A>C,p.S34R |
| EPN1(NM_001130071,epsin 1,662aa) | g.19:56188926T>C,c.58T>C,p.F20L |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:146056499C>G,c.136G>C,p.A46P |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:146056472G>T,c.163C>A,p.Q55K |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:146007412G>A,c.322C>T,p.R108C |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:146007358T>C,c.376A>G,p.I126V |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:145956611T>C,c.488A>G,p.N163S |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:145956455T>A,c.644A>T,p.D215V |
| EPM2A(NM_005670,epilepsy, progressive myoclonus type 2A, Lafora disease (laforin),331aa) | g.6:145956419G>A,c.680C>T,p.A227V |
| EPM2AIP1(NM_014805,EPM2A (laforin) interacting protein 1,607aa) | g.3:37034021G>A,c.548C>T,p.A183V |
| EPM2AIP1(NM_014805,EPM2A (laforin) interacting protein 1,607aa) | g.3:37033491C>A,c.1078G>T,p.A360S |
| EPHX3(NM_024794,epoxide hydrolase 3,360aa) | g.19:15338878C>T,c.650G>A,p.R217H |
| EPHX3(NM_024794,epoxide hydrolase 3,360aa) | g.19:15338401C>A,c.930G>T,p.L310F |
| EPHX3(NM_024794,epoxide hydrolase 3,360aa) | g.19:15338334G>A,c.997C>T,p.P333S |
| EPHX2(NM_001979,epoxide hydrolase 2, cytoplasmic,555aa) | g.8:27401294C>A,c.1478C>A,p.A493E |
| EPHX2(NM_001979,epoxide hydrolase 2, cytoplasmic,555aa) | g.8:27399031A>C,c.1421A>C,p.K474T |