| 基因名 | 突变 |
|---|---|
| GOLGA3(NM_005895,golgin A3,1498aa) | g.12:133351888C>T,c.3982G>A,p.V1328I |
| GOLGA3(NM_005895,golgin A3,1498aa) | g.12:133351809G>A,c.4061C>T,p.S1354L |
| GOLGA3(NM_005895,golgin A3,1498aa) | g.12:133351746C>T,c.4124G>A,p.R1375H |
| GOLGA3(NM_005895,golgin A3,1498aa) | g.12:133349749C>T,c.4439G>A,p.R1480H |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131030779G>C,c.232C>G,p.L78V |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131029792G>A,c.425C>T,p.A142V |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131029541G>C,c.493C>G,p.Q165E |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131023505T>C,c.1285A>G,p.M429V |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131023499G>A,c.1291C>T,p.R431W |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131022793C>T,c.1628G>A,p.R543Q |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131022776G>C,c.1645C>G,p.L549V |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131021322G>A,c.2056C>T,p.R686W |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131020818A>C,c.2124T>G,p.D708E |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131020815C>A,c.2127G>T,p.E709D |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131020796_131020798del,c.2144_2146del,p.715_716del |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131020400C>G,c.2286G>C,p.R762S |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019771G>A,c.2671C>T,p.R891W |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019756G>A,c.2686C>T,p.R896C |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019750C>G,c.2692G>C,p.E898Q |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019738T>C,c.2704A>G,p.R902G |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019698G>A,c.2744C>T,p.T915I |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019662G>A,c.2780C>T,p.A927V |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019555A>T,c.2800T>A,p.C934S |
| GOLGA2(NM_004486,golgin A2,1002aa) | g.9:131019435G>A,c.2920C>T,p.R974W |
| GOLGA1(NM_002077,golgin A1,767aa) | g.9:127684074T>C,c.659A>G,p.N220S |
| GOLGA1(NM_002077,golgin A1,767aa) | g.9:127674268G>C,c.881C>G,p.T294R |
| GOLGA1(NM_002077,golgin A1,767aa) | g.9:127674200A>C,c.949T>G,p.L317V |
| GOLGA1(NM_002077,golgin A1,767aa) | g.9:127662792T>A,c.1100A>T,p.E367V |