| 基因名 | 突变 |
|---|---|
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17946804G>A,c.1843C>T,p.R615C |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17945798T>A,c.2062A>T,p.I688F |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17945696C>T,c.2164G>A,p.V722I |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17943490G>A,c.2518C>T,p.R840C |
| JAK3(NM_000215,Janus kinase 3,1124aa) | g.19:17943348C>T,c.2660G>A,p.R887H |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5126343G>A,c.3188G>A,p.R1063H |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5123102A>G,c.3158A>G,p.K1053R |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5123096T>C,c.3152T>C,p.I1051T |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5089798T>C,c.2696T>C,p.I899T |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5089776C>G,c.2674C>G,p.L892V |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5080268T>C,c.2171T>C,p.I724T |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5072541G>T,c.1691G>T,p.R564L |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5065003C>G,c.1177C>G,p.L393V |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5065000G>A,c.1174G>A,p.V392M |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5044458A>T,c.406A>T,p.I136L |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5044432G>A,c.380G>A,p.G127D |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5029893C>G,c.337C>G,p.L113V |
| JAK2(NM_004972,Janus kinase 2,1132aa) | g.9:5022042A>G,c.55A>G,p.I19V |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65339171T>C,c.365A>G,p.N122S |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65332659del,c.880del,p.294fs |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65321324G>A,c.1516C>T,p.R506C |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65316561_65316562insT,c.1680_1681insA,p.560fs |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65311209G>A,c.2102C>T,p.A701V |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65304196G>T,c.2919C>A,p.N973K |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65301105G>A,c.3343C>T,p.P1115S |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65301101C>T,c.3347G>A,p.C1116Y |
| JAK1(NM_002227,Janus kinase 1,1154aa) | g.1:65300247A>G,c.3463T>C,p.X1155Q |
| JAGN1(NM_032492,jagunal homolog 1 (Drosophila),183aa) | g.3:9934753A>G,c.244A>G,p.I82V |