| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71438982G>C | CA6162479 | DHCR7 | c.728C>G (p.Pro243Arg) c.554C>G (p.Pro185Arg) c.779C>G (p.Pro260Arg) c.764C>G (p.Pro255Arg) n.768C>G c.143C>G (p.Pro48Arg) c.632C>G (p.Pro211Arg) c.95C>G (p.Pro32Arg) n.223C>G c.84C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71438982G= | CA1981488587 | DHCR7 | c.728C= (p.Pro243=) c.554C= (p.Pro185=) c.779C= (p.Pro260=) c.764C= (p.Pro255=) n.768C= c.143C= (p.Pro48=) c.632C= (p.Pro211=) c.95C= (p.Pro32=) n.223C= c.84C= | dbSNP |