| 基因名 | 突变 |
|---|---|
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133976858G>A,c.2360G>A,p.R787H |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133963537G>A,c.1999G>A,p.A667T |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133963499C>T,c.1961C>T,p.A654V |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133958654G>A,c.1646G>A,p.R549Q |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133958651C>T,c.1643C>T,p.A548V |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133955427A>G,c.1477A>G,p.M493V |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133946961C>T,c.779C>T,p.P260L |
| JAKMIP3(NM_001105521,Janus kinase and microtubule interacting protein 3,844aa) | g.10:133946865A>G,c.683A>G,p.E228G |
| JAKMIP2(NM_001270941,janus kinase and microtubule interacting protein 2,820aa) | g.5:147040822C>T,c.316G>A,p.V106I |
| JAKMIP2(NM_001270941,janus kinase and microtubule interacting protein 2,820aa) | g.5:147040773C>T,c.365G>A,p.R122H |
| JAKMIP2(NM_001270941,janus kinase and microtubule interacting protein 2,820aa) | g.5:147024496C>A,c.1000G>T,p.A334S |
| JAKMIP2(NM_001270941,janus kinase and microtubule interacting protein 2,820aa) | g.5:147024471A>C,c.1025T>G,p.V342G |
| JAKMIP2(NM_001270941,janus kinase and microtubule interacting protein 2,820aa) | g.5:147024436C>T,c.1060G>A,p.V354I |
| JAKMIP1(NM_001099433,janus kinase and microtubule interacting protein 1,831aa) | g.4:6114573G>A,c.5C>T,p.S2L |
| JAKMIP1(NM_001099433,janus kinase and microtubule interacting protein 1,831aa) | g.4:6107528G>A,c.296C>T,p.A99V |
| JAKMIP1(NM_001099433,janus kinase and microtubule interacting protein 1,831aa) | g.4:6086694_6086695insA,c.835-2insT,p.279Acceptorins |
| JAKMIP1(NM_001099433,janus kinase and microtubule interacting protein 1,831aa) | g.4:6082018C>T,c.1123G>A,p.A375T |
| JAKMIP1(NM_001099433,janus kinase and microtubule interacting protein 1,831aa) | g.4:6081975G>A,c.1166C>T,p.T389M |
| JAKMIP1(NM_001099433,janus kinase and microtubule interacting protein 1,831aa) | g.4:6080704A>T,c.1264T>A,p.S422T |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17955204G>A,c.23C>T,p.T8M |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17955169A>T,c.58T>A,p.S20T |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17955109G>A,c.118C>T,p.R40C |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17954707T>C,c.187A>G,p.I63V |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17953950G>C,c.452C>G,p.P151R |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17953337C>T,c.649G>A,p.V217M |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17953321C>T,c.665G>A,p.R222H |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17952349C>T,c.991G>A,p.E331K |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17950435C>T,c.1292G>A,p.R431Q |