| 基因名 | 突变 |
|---|---|
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37581071G>A,c.550G>A,p.A184T |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37581015C>T,c.494C>T,p.T165M |
| DOPEY2(NM_005128,dopey family member 2,2298aa) | g.21:37572667C>T,c.359C>T,p.S120L |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83877729G>A,c.7274G>A,p.R2425Q |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83866901A>G,c.6578A>G,p.E2193G |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83861720G>A,c.5996G>A,p.G1999E |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83850049A>T,c.5315A>T,p.Q1772L |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83848605A>G,c.4817A>G,p.E1606G |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83847825G>A,c.4037G>A,p.R1346Q |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83838973A>G,c.2060A>G,p.N687S |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83838955A>C,c.2042A>C,p.N681T |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83838852G>A,c.1939G>A,p.V647I |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83838673G>A,c.1760G>A,p.R587Q |
| DOPEY1(NM_001199942,dopey family member 1,2476aa) | g.6:83831730C>T,c.1154C>T,p.T385I |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34960634G>C,c.314C>G,p.P105R |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34956929T>C,c.752A>G,p.D251G |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34954486C>T,c.1031G>A,p.S344N |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34951831C>A,c.1388G>T,p.G463V |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34951753T>G,c.1466A>C,p.K489T |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34951753T>C,c.1466A>G,p.K489R |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34951673C>G,c.1546G>C,p.D516H |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34950728G>A,c.1586C>T,p.T529I |
| DONSON(NM_017613,downstream neighbor of SON,566aa) | g.21:34950699C>T,c.1615G>A,p.E539K |
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131709203A>G,c.380T>C,p.V127A |
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131708994C>T,c.589G>A,p.V197I |
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131708883T>C,c.700A>G,p.M234V |
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131708707G>C,c.876C>G,p.F292L |
| DOLK(NM_014908,dolichol kinase,538aa) | g.9:131708504T>C,c.1079A>G,p.Y360C |