| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71439040C>T | CA6162492 | DHCR7 | c.670G>A (p.Glu224Lys) c.496G>A (p.Glu166Lys) c.721G>A (p.Glu241Lys) c.706G>A (p.Glu236Lys) n.710G>A c.85G>A (p.Glu29Lys) c.574G>A (p.Glu192Lys) c.37G>A (p.Glu13Lys) n.165G>A c.26G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71439040C= | CA1981488613 | DHCR7 | c.670G= (p.Glu224=) c.496G= (p.Glu166=) c.721G= (p.Glu241=) c.706G= (p.Glu236=) n.710G= c.85G= (p.Glu29=) c.574G= (p.Glu192=) c.37G= (p.Glu13=) n.165G= c.26G= | dbSNP |