| 基因名 | 突变 |
|---|---|
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99361704A>T,c.791A>T,p.D264V |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99361682T>G,c.769T>G,p.C257G |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99361634G>A,c.721G>A,p.A241T |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99361628G>A,c.715G>A,p.V239I |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99359888C>T,c.668C>T,p.S223L |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99359522C>T,c.554C>T,p.T185M |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99358872G>A,c.367G>A,p.V123I |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99358619T>C,c.299T>C,p.M100T |
| HOGA1(NM_138413,4-hydroxy-2-oxoglutarate aldolase 1,327aa) | g.10:99344480G>C,c.20G>C,p.W7S |
| HNRNPU(NM_031844,heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A),825aa) | g.1:245027527T>C,c.83A>G,p.K28R |
| HNRNPU(NM_031844,heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A),825aa) | g.1:245021488G>T,c.1319C>A,p.A440D |
| HNRNPU(NM_031844,heterogeneous nuclear ribonucleoprotein U (scaffold attachment factor A),825aa) | g.1:245021347C>G,c.1460G>C,p.G487A |
| HNRNPUL2(NM_001079559,heterogeneous nuclear ribonucleoprotein U-like 2,747aa) | g.11:62494375_62494377del,c.252_254del,p.84_85del |
| HNRNPUL2(NM_001079559,heterogeneous nuclear ribonucleoprotein U-like 2,747aa) | g.11:62491822A>T,c.615T>A,p.D205E |
| HNRNPUL2(NM_001079559,heterogeneous nuclear ribonucleoprotein U-like 2,747aa) | g.11:62490341G>C,c.926C>G,p.T309R |
| HNRNPUL2(NM_001079559,heterogeneous nuclear ribonucleoprotein U-like 2,747aa) | g.11:62484463T>C,c.1979A>G,p.Y660C |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41811689G>A,c.2371G>A,p.G791S |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41808803G>A,c.1921G>A,p.G641S |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41782163G>A,c.746G>A,p.S249N |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41779892G>A,c.578G>A,p.R193H |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41774242A>G,c.410A>G,p.Y137C |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41774205G>A,c.373G>A,p.E125K |
| HNRNPUL1(NM_007040,heterogeneous nuclear ribonucleoprotein U-like 1,856aa) | g.19:41774140A>G,c.308A>G,p.N103S |
| HNRNPR(NM_001102398,heterogeneous nuclear ribonucleoprotein R,636aa) | g.1:23660015G>A,c.494C>T,p.T165M |
| HNRNPR(NM_001102398,heterogeneous nuclear ribonucleoprotein R,636aa) | g.1:23637249del,c.1609del,p.537fs |
| HNRNPR(NM_001102398,heterogeneous nuclear ribonucleoprotein R,636aa) | g.1:23637146T>C,c.1712A>G,p.N571S |
| HNRNPM(NM_005968,heterogeneous nuclear ribonucleoprotein M,730aa) | g.19:8550789G>A,c.1477G>A,p.G493S |
| HNRNPM(NM_005968,heterogeneous nuclear ribonucleoprotein M,730aa) | g.19:8509905C>T,c.23C>T,p.A8V |