| 基因名 | 突变 |
|---|---|
| HTT(NM_002111,huntingtin,3142aa) | g.4:3076662A>C,c.110A>C,p.Q37P |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3076604_3076609del,c.52_57del,p.18_19del |
| HTT(NM_002111,huntingtin,3142aa) | g.4:3076603_3076604insCAG,c.51_52insCAG,p.17_18ins1aa |
| HTRA4(NM_153692,HtrA serine peptidase 4,476aa) | g.8:38845519G>C,c.1333G>C,p.D445H |
| HTRA4(NM_153692,HtrA serine peptidase 4,476aa) | g.8:38840519G>A,c.1220G>A,p.S407N |
| HTRA4(NM_153692,HtrA serine peptidase 4,476aa) | g.8:38839174_38839176del,c.1002_1004del,p.334_335del |
| HTRA4(NM_153692,HtrA serine peptidase 4,476aa) | g.8:38835650T>A,c.950T>A,p.I317N |
| HTRA4(NM_153692,HtrA serine peptidase 4,476aa) | g.8:38834187G>T,c.700G>T,p.A234S |
| HTRA4(NM_153692,HtrA serine peptidase 4,476aa) | g.8:38832607A>T,c.524A>T,p.E175V |
| HTRA3(NM_053044,HtrA serine peptidase 3,453aa) | g.4:8305985C>T,c.1175C>T,p.A392V |
| HTRA3(NM_053044,HtrA serine peptidase 3,453aa) | g.4:8304226C>T,c.1088C>T,p.T363M |
| HTRA3(NM_053044,HtrA serine peptidase 3,453aa) | g.4:8293200C>T,c.812C>T,p.T271M |
| HTRA3(NM_053044,HtrA serine peptidase 3,453aa) | g.4:8293193G>A,c.805G>A,p.V269M |
| HTRA3(NM_053044,HtrA serine peptidase 3,453aa) | g.4:8271873G>A,c.178G>A,p.E60K |
| HTRA3(NM_053044,HtrA serine peptidase 3,453aa) | g.4:8271775C>G,c.80C>G,p.A27G |
| HTRA2(NM_013247,HtrA serine peptidase 2,458aa) | g.2:74759825G>A,c.1195G>A,p.G399S |
| HTRA2(NM_013247,HtrA serine peptidase 2,458aa) | g.2:74757881C>T,c.644C>T,p.T215M |
| HTRA2(NM_013247,HtrA serine peptidase 2,458aa) | g.2:74757554G>T,c.421G>T,p.A141S |
| HTRA2(NM_013247,HtrA serine peptidase 2,458aa) | g.2:74757348T>C,c.215T>C,p.L72P |
| HTRA2(NM_013247,HtrA serine peptidase 2,458aa) | g.2:74757210G>A,c.77G>A,p.G26E |
| HTRA1(NM_002775,HtrA serine peptidase 1,480aa) | g.10:124271508C>T,c.1201C>T,p.R401W |
| HTRA1(NM_002775,HtrA serine peptidase 1,480aa) | g.10:124221276G>T,c.108G>T,p.G36G |
| HTRA1(NM_002775,HtrA serine peptidase 1,480aa) | g.10:124221276G>C,c.108G>C,p.G36G |
| HTRA1(NM_002775,HtrA serine peptidase 1,480aa) | g.10:124221270C>T,c.102C>T,p.A34A |
| HTRA1(NM_002775,HtrA serine peptidase 1,480aa) | g.10:124221245G>A,c.77G>A,p.R26Q |
| HTRA1(NM_002775,HtrA serine peptidase 1,480aa) | g.10:124221227C>T,c.59C>T,p.A20V |
| HTR7(NM_019859,5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled,479aa) | g.10:92617380G>A,c.49C>T,p.R17C |
| HTR7(NM_019859,5-hydroxytryptamine (serotonin) receptor 7, adenylate cyclase-coupled,479aa) | g.10:92509055G>A,c.836C>T,p.P279L |