| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437934C>T | CA221680 | DHCR7 | c.841G>A (p.Val281Met) c.667G>A (p.Val223Met) c.892G>A (p.Val298Met) c.877G>A (p.Val293Met) n.881G>A c.256G>A (p.Val86Met) c.745G>A (p.Val249Met) c.208G>A (p.Val70Met) c.91G>A (p.Val31Met) c.197G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437934C= | CA1981488057 | DHCR7 | c.841G= (p.Val281=) c.667G= (p.Val223=) c.892G= (p.Val298=) c.877G= (p.Val293=) n.881G= c.256G= (p.Val86=) c.745G= (p.Val249=) c.208G= (p.Val70=) c.91G= (p.Val31=) c.197G= | dbSNP |