| Genename | Variants |
|---|---|
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49442940G>A,c.601G>A,p.G201R |
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49442850del,c.511del,p.171fs |
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49442849_49442850insG,c.510_511insG,p.170fs |
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49438363G>A,c.197G>A,p.S66N |
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49437055G>C,c.77G>C,p.R26P |
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49436982G>C,c.4G>C,p.A2P |
| DHDH(NM_014475,dihydrodiol dehydrogenase (dimeric),334aa) | g.19:49436980T>A,c.2T>A,p.M1K |
| DHDDS(NM_024887,dehydrodolichyl diphosphate synthase,334aa) | g.1:26795437G>T,c.820G>T,p.D274Y |
| DHDDS(NM_024887,dehydrodolichyl diphosphate synthase,334aa) | g.1:26786627G>A,c.757G>A,p.V253M |
| DHDDS(NM_024887,dehydrodolichyl diphosphate synthase,334aa) | g.1:26774085G>A,c.476G>A,p.R159H |
| DHDDS(NM_024887,dehydrodolichyl diphosphate synthase,334aa) | g.1:26764735G>A,c.140G>A,p.R47Q |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71155922T>G,c.77A>C,p.Q26P |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71155910C>G,c.89G>C,p.G30A |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71155233C>T,c.127G>A,p.V43I |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71155134C>T,c.226G>A,p.V76I |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71150098T>G,c.658A>C,p.M220L |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71150032G>A,c.724C>T,p.R242C |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71150026C>T,c.730G>A,p.G244R |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71146837C>T,c.1012G>A,p.V338M |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71146508G>A,c.1341C>T,p.D447D |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71146495C>T,c.1354G>A,p.A452T |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71146468G>A,c.1381C>T,p.R461C |
| DHCR7(NM_001360,7-dehydrocholesterol reductase,475aa) | g.11:71146443C>T,c.1406G>A,p.R469H |
| DHCR24(NM_014762,24-dehydrocholesterol reductase,516aa) | g.1:55337162C>T,c.737G>A,p.R246Q |
| DGUOK(NM_080916,deoxyguanosine kinase,277aa) | g.2:74185323A>G,c.758A>G,p.N253S |
| DGUOK(NM_080916,deoxyguanosine kinase,277aa) | g.2:74177777A>G,c.509A>G,p.Q170R |
| DGUOK(NM_080916,deoxyguanosine kinase,277aa) | g.2:74173927T>C,c.337T>C,p.F113L |
| DGUOK(NM_080916,deoxyguanosine kinase,277aa) | g.2:74154054T>A,c.17T>A,p.L6H |