| 基因名 | 突变 |
|---|---|
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235961G>A,c.1291G>A,p.A431T |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235672C>T,c.1105C>T,p.R369C |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235651C>T,c.1084C>T,p.R362W |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235523C>T,c.1055C>T,p.T352M |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235477G>A,c.1009G>A,p.V337I |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235297G>A,c.913G>A,p.D305N |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67235291A>T,c.907A>T,p.M303L |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67234821A>G,c.853A>G,p.M285V |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67234412G>A,c.631G>A,p.V211M |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67234254G>A,c.562G>A,p.D188N |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67234219G>A,c.527G>A,p.R176H |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67234134A>G,c.442A>G,p.N148D |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67233618C>G,c.310C>G,p.L104V |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67233266A>C,c.196A>C,p.K66Q |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67233243G>A,c.173G>A,p.R58Q |
| ELMO2(NM_133171,engulfment and cell motility 2,720aa) | g.20:45021740T>C,c.235A>G,p.I79V |
| ELMO2(NM_133171,engulfment and cell motility 2,720aa) | g.20:45017847G>A,c.256C>T,p.R86C |
| ELMO2(NM_133171,engulfment and cell motility 2,720aa) | g.20:45000020_45000021insC,c.1771_1772insG,p.591fs |
| ELMO1(NM_001206482,engulfment and cell motility 1,727aa) | g.7:37355534C>T,c.109G>A,p.V37I |
| ELMO1(NM_001206482,engulfment and cell motility 1,727aa) | g.7:37136280C>T,c.1244G>A,p.R415H |
| ELMO1(NM_001206482,engulfment and cell motility 1,727aa) | g.7:37053009C>T,c.1332G>A,p.M444I |
| ELMO1(NM_001206482,engulfment and cell motility 1,727aa) | g.7:36895295G>A,c.2045C>T,p.T682M |
| ELL(NM_006532,elongation factor RNA polymerase II,621aa) | g.19:18576691G>A,c.221C>T,p.A74V |
| ELL(NM_006532,elongation factor RNA polymerase II,621aa) | g.19:18576640del,c.272del,p.91fs |
| ELL(NM_006532,elongation factor RNA polymerase II,621aa) | g.19:18572570T>C,c.562A>G,p.I188V |
| ELL(NM_006532,elongation factor RNA polymerase II,621aa) | g.19:18572405C>T,c.727G>A,p.D243N |
| ELL(NM_006532,elongation factor RNA polymerase II,621aa) | g.19:18562438C>T,c.890G>A,p.S297N |
| ELL(NM_006532,elongation factor RNA polymerase II,621aa) | g.19:18561668G>A,c.1084C>T,p.R362C |