| 基因名 | 突变 |
|---|---|
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78805758G>A,c.328G>A,p.V110M |
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78805635A>G,c.205A>G,p.T69A |
| HYKK(NM_001013619,hydroxylysine kinase,373aa) | g.15:78805527A>G,c.97A>G,p.K33E |
| HYI(NM_001243526,hydroxypyruvate isomerase (putative),272aa) | g.1:43919413A>G,c.52T>C,p.S18P |
| HYI(NM_001243526,hydroxypyruvate isomerase (putative),272aa) | g.1:43918611C>T,c.349G>A,p.G117S |
| HYI(NM_001243526,hydroxypyruvate isomerase (putative),272aa) | g.1:43917621C>T,c.565G>A,p.D189N |
| HYI(NM_001243526,hydroxypyruvate isomerase (putative),272aa) | g.1:43917340G>A,c.679C>T,p.R227W |
| HYI(NM_001243526,hydroxypyruvate isomerase (putative),272aa) | g.1:43917105C>T,c.811G>A,p.V271M |
| HYI(NM_001243526,hydroxypyruvate isomerase (putative),272aa) | g.1:43917098C>G,c.817+1G>C,p.273Donor |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71220794G>T,c.5C>A,p.T2K |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71220755A>G,c.44T>C,p.M15T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71220702T>C,c.97A>G,p.S33G |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71220668C>T,c.131G>A,p.R44Q |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71163613G>A,c.1157C>T,p.A386V |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71127814C>G,c.1352G>C,p.R451P |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71122408C>T,c.1466G>A,p.G489D |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71122383C>G,c.1491G>C,p.M497I |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71113844A>G,c.1682T>C,p.I561T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71103393G>T,c.1751C>A,p.T584N |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71103315T>C,c.1829A>G,p.H610R |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71101200T>C,c.2068A>G,p.T690A |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71098649T>C,c.2170A>G,p.N724D |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71098642T>C,c.2177A>G,p.D726G |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71096167T>A,c.2281A>T,p.T761S |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71061573C>T,c.2974G>A,p.A992T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71061525C>T,c.3022G>A,p.G1008S |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71054178T>C,c.3229A>G,p.I1077V |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:71054116T>C,c.3291A>G,p.I1097M |