| 基因名 | 突变 |
|---|---|
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70902568C>T,c.11215G>A,p.A3739T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70902559C>T,c.11224G>A,p.V3742I |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70902541G>A,c.11242C>T,p.R3748C |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70900199C>T,c.11344G>A,p.V3782I |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70897062C>T,c.11495G>A,p.R3832H |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70897039C>G,c.11518G>C,p.V3840L |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70896144C>T,c.11584G>A,p.D3862N |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70896122A>C,c.11606T>G,p.M3869R |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70896090C>T,c.11638G>A,p.D3880N |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70896033C>T,c.11695G>A,p.V3899M |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70896016del,c.11712del,p.3904fs |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70895981A>G,c.11747T>C,p.I3916T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70894087T>C,c.12013A>G,p.T4005A |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70894024C>T,c.12076G>A,p.A4026T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70893976C>T,c.12124G>A,p.A4042T |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70891640T>C,c.12263A>G,p.K4088R |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70884524C>G,c.12478G>C,p.E4160Q |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70883694G>A,c.12808C>T,p.H4270Y |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70871768G>C,c.13067C>G,p.T4356S |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70843712G>A,c.14857C>T,p.R4953W |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70841751C>T,c.15098G>A,p.R5033Q |
| HYDIN(NM_001270974,HYDIN, axonemal central pair apparatus protein,5121aa) | g.16:70841658C>T,c.15191G>A,p.R5064H |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123517100G>A,c.1337G>A,p.C446Y |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123516998A>G,c.1235A>G,p.D412G |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123516973A>G,c.1210A>G,p.S404G |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123516961T>G,c.1198T>G,p.L400V |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123514896G>T,c.1036G>T,p.A346S |
| HYAL4(NM_012269,hyaluronoglucosaminidase 4,481aa) | g.7:123508985T>C,c.658T>C,p.Y220H |