| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438980C>T | CA253939 | DHCR7 | c.730G>A (p.Gly244Arg) c.556G>A (p.Gly186Arg) c.781G>A (p.Gly261Arg) c.766G>A (p.Gly256Arg) n.770G>A c.145G>A (p.Gly49Arg) c.634G>A (p.Gly212Arg) c.97G>A (p.Gly33Arg) n.225G>A c.86G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71438980C= | CA1981488585 | DHCR7 | c.730G= (p.Gly244=) c.556G= (p.Gly186=) c.781G= (p.Gly261=) c.766G= (p.Gly256=) n.770G= c.145G= (p.Gly49=) c.634G= (p.Gly212=) c.97G= (p.Gly33=) n.225G= c.86G= | dbSNP |