| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437868C>T | CA275430 | DHCR7 | c.907G>A (p.Gly303Arg) c.733G>A (p.Gly245Arg) c.958G>A (p.Gly320Arg) c.943G>A (p.Gly315Arg) n.947G>A c.322G>A (p.Gly108Arg) c.811G>A (p.Gly271Arg) c.274G>A (p.Gly92Arg) c.157G>A (p.Gly53Arg) c.263G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437868C>A | CA6162404 | DHCR7 | c.907G>T (p.Gly303Trp) c.733G>T (p.Gly245Trp) c.958G>T (p.Gly320Trp) c.943G>T (p.Gly315Trp) n.947G>T c.322G>T (p.Gly108Trp) c.811G>T (p.Gly271Trp) c.274G>T (p.Gly92Trp) c.157G>T (p.Gly53Trp) c.263G>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |