| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71439028G>A | CA6162491 | DHCR7 | c.682C>T (p.Arg228Trp) c.508C>T (p.Arg170Trp) c.733C>T (p.Arg245Trp) c.718C>T (p.Arg240Trp) n.722C>T c.97C>T (p.Arg33Trp) c.586C>T (p.Arg196Trp) c.49C>T (p.Arg17Trp) n.177C>T c.38C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71439028G= | CA1981488610 | DHCR7 | c.682C= (p.Arg228=) c.508C= (p.Arg170=) c.733C= (p.Arg245=) c.718C= (p.Arg240=) n.722C= c.97C= (p.Arg33=) c.586C= (p.Arg196=) c.49C= (p.Arg17=) n.177C= c.38C= | dbSNP |