| 基因名 | 突变 |
|---|---|
| HK2(NM_000189,hexokinase 2,917aa) | g.2:75099477A>T,c.426A>T,p.Q142H |
| HK2(NM_000189,hexokinase 2,917aa) | g.2:75081445G>A,c.89G>A,p.R30H |
| HK1(NM_033500,hexokinase 1,905aa) | g.10:71158444_71158445insG,c.2433_2434insG,p.811fs |
| HK1(NM_033500,hexokinase 1,905aa) | g.10:71060610A>G,c.20A>G,p.H7R |
| HK1(NM_033500,hexokinase 1,905aa) | g.10:71060524G>A,c.-66-1G>A,p.5'UTRAcceptor |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234763137T>C,c.10A>G,p.T4A |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234763136G>A,c.11C>T,p.T4M |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234763111G>T,c.36C>A,p.D12E |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234761225C>T,c.226G>A,p.E76K |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234752863C>T,c.562G>A,p.V188M |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234752857C>T,c.568G>A,p.A190T |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234752851C>T,c.574G>A,p.G192R |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750831T>C,c.595A>G,p.R199G |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750805T>A,c.621A>T,p.K207N |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750596G>T,c.830C>A,p.T277K |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750566G>A,c.860C>T,p.T287M |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750542G>C,c.884C>G,p.S295C |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750482C>T,c.944G>A,p.R315H |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750390C>T,c.1036G>A,p.V346I |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234750380C>T,c.1046G>A,p.R349H |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234749871C>T,c.1555G>A,p.D519N |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234749783C>G,c.1643G>C,p.S548T |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234749780G>C,c.1646C>G,p.S549C |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234749722T>G,c.1704A>C,p.E568D |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234749354G>A,c.2072C>T,p.S691F |
| HJURP(NM_018410,Holliday junction recognition protein,748aa) | g.2:234749258T>C,c.2168A>G,p.E723G |
| HIVEP3(NM_024503,human immunodeficiency virus type I enhancer binding protein 3,2406aa) | g.1:42050366C>T,c.103G>A,p.V35I |
| HIVEP3(NM_024503,human immunodeficiency virus type I enhancer binding protein 3,2406aa) | g.1:42050182G>A,c.287C>T,p.P96L |