| 基因名 | 突变 |
|---|---|
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74205345C>T,c.1367G>A,p.R456Q |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74203983T>G,c.1467A>C,p.E489D |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74203789G>A,c.1661C>T,p.P554L |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74188164T>C,c.2773A>G,p.S925G |
| ELMSAN1(NM_194278,ELM2 and Myb/SANT-like domain containing 1,1045aa) | g.14:74188001G>A,c.2936C>T,p.S979L |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85617310G>A,c.865G>A,p.A289T |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85617272G>A,c.827G>A,p.R276Q |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85604596A>T,c.737A>T,p.Q246L |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85604565G>A,c.706G>A,p.E236K |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85604537G>A,c.678G>A,p.M226I |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85598254C>T,c.406C>T,p.R136X |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85596906A>G,c.313A>G,p.S105G |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85595863T>G,c.254T>G,p.I85S |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85595818C>T,c.209C>T,p.T70I |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85590286C>T,c.196C>T,p.R66C |
| ELMOD3(NM_032213,ELMO/CED-12 domain containing 3,391aa) | g.2:85581953G>A,c.-233+1G>A,p.5'UTRDonor |
| ELMOD2(NM_153702,ELMO/CED-12 domain containing 2,293aa) | g.4:141461350A>C,c.428A>C,p.K143T |
| ELMOD2(NM_153702,ELMO/CED-12 domain containing 2,293aa) | g.4:141446698T>G,c.116T>G,p.V39G |
| ELMOD2(NM_153702,ELMO/CED-12 domain containing 2,293aa) | g.4:141446611A>G,c.29A>G,p.Y10C |
| ELMOD1(NM_018712,ELMO/CED-12 domain containing 1,334aa) | g.11:107535894G>A,c.976G>A,p.A326T |
| ELMOD1(NM_018712,ELMO/CED-12 domain containing 1,334aa) | g.11:107526750G>A,c.790G>A,p.A264T |
| ELMOD1(NM_018712,ELMO/CED-12 domain containing 1,334aa) | g.11:107524930G>T,c.680G>T,p.R227M |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67237668A>G,c.2210A>G,p.K737R |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67237090G>A,c.1903G>A,p.A635T |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67236899G>A,c.1826G>A,p.R609Q |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67236872C>T,c.1799C>T,p.T600M |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67236599C>T,c.1627C>T,p.R543X |
| ELMO3(NM_024712,engulfment and cell motility 3,773aa) | g.16:67236131G>A,c.1364G>A,p.R455Q |