| 基因名 | 突变 |
|---|---|
| HACE1(NM_020771,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,909aa) | g.6:105243556C>T,c.821G>A,p.R274Q |
| HACE1(NM_020771,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,909aa) | g.6:105239465C>T,c.988G>A,p.V330I |
| HACE1(NM_020771,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,909aa) | g.6:105239401_105239402insT,c.1051_1052insA,p.351fs |
| HACE1(NM_020771,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,909aa) | g.6:105233073T>C,c.1196A>G,p.D399G |
| HACE1(NM_020771,HECT domain and ankyrin repeat containing E3 ubiquitin protein ligase 1,909aa) | g.6:105219863C>T,c.1951G>A,p.A651T |
| HABP4(NM_014282,hyaluronan binding protein 4,413aa) | g.9:99250506C>T,c.1135C>T,p.R379W |
| HABP4(NM_014282,hyaluronan binding protein 4,413aa) | g.9:99246847A>G,c.931A>G,p.I311V |
| HABP4(NM_014282,hyaluronan binding protein 4,413aa) | g.9:99227725G>A,c.619G>A,p.A207T |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115348082T>C,c.1637T>C,p.F546S |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115348046G>A,c.1601G>A,p.G534E |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115348000G>A,c.1555G>A,p.G519S |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115343100T>G,c.1220T>G,p.I407S |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115343057G>C,c.1177G>C,p.E393Q |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115341758C>T,c.962C>T,p.T321M |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115341743G>A,c.947G>A,p.G316E |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115340416G>A,c.803G>A,p.W268X |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115340365C>T,c.752C>T,p.A251V |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115338424C>T,c.607C>T,p.R203X |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115337823G>A,c.487G>A,p.A163T |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115336941C>T,c.364C>T,p.R122W |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115335700G>A,c.268G>A,p.V90I |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115334144A>G,c.203A>G,p.Y68C |
| HABP2(NM_004132,hyaluronan binding protein 2,560aa) | g.10:115327273G>T,c.95G>T,p.S32I |
| HAAO(NM_012205,3-hydroxyanthranilate 3,4-dioxygenase,286aa) | g.2:43015719T>C,c.109A>G,p.I37V |
| HAAO(NM_012205,3-hydroxyanthranilate 3,4-dioxygenase,286aa) | g.2:43015704T>A,c.124A>T,p.T42S |
| HAAO(NM_012205,3-hydroxyanthranilate 3,4-dioxygenase,286aa) | g.2:42995058T>C,c.641A>G,p.Y214C |
| HAAO(NM_012205,3-hydroxyanthranilate 3,4-dioxygenase,286aa) | g.2:42994814C>G,c.703G>C,p.G235R |
| HAAO(NM_012205,3-hydroxyanthranilate 3,4-dioxygenase,286aa) | g.2:42994787G>A,c.730C>T,p.R244W |