| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437936T>C | CA253949 | DHCR7 | c.839A>G (p.Tyr280Cys) c.665A>G (p.Tyr222Cys) c.890A>G (p.Tyr297Cys) c.875A>G (p.Tyr292Cys) n.879A>G c.254A>G (p.Tyr85Cys) c.743A>G (p.Tyr248Cys) c.206A>G (p.Tyr69Cys) c.89A>G (p.Tyr30Cys) c.195A>G | ClinVar dbSNP |
| 11 | g.71437936T= | CA1981488059 | DHCR7 | c.839A= (p.Tyr280=) c.665A= (p.Tyr222=) c.890A= (p.Tyr297=) c.875A= (p.Tyr292=) n.879A= c.254A= (p.Tyr85=) c.743A= (p.Tyr248=) c.206A= (p.Tyr69=) c.89A= (p.Tyr30=) c.195A= | dbSNP |