| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438986G>A | CA341827 | DHCR7 | c.724C>T (p.Arg242Cys) c.550C>T (p.Arg184Cys) c.775C>T (p.Arg259Cys) c.760C>T (p.Arg254Cys) n.764C>T c.139C>T (p.Arg47Cys) c.628C>T (p.Arg210Cys) c.91C>T (p.Arg31Cys) n.219C>T c.80C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71438986G= | CA1981488591 | DHCR7 | c.724C= (p.Arg242=) c.550C= (p.Arg184=) c.775C= (p.Arg259=) c.760C= (p.Arg254=) n.764C= c.139C= (p.Arg47=) c.628C= (p.Arg210=) c.91C= (p.Arg31=) n.219C= c.80C= | dbSNP |