| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441308C>T | CA6162538 | DHCR7 | c.545G>A (p.Trp182Ter) c.371G>A (p.Trp124Ter) c.581G>A (p.Trp194Ter) n.822G>A c.-41G>A (n.-41G>A) c.449G>A (p.Trp150Ter) n.40G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71441308C>A | CA381694456 | DHCR7 | c.545G>T (p.Trp182Leu) c.371G>T (p.Trp124Leu) c.581G>T (p.Trp194Leu) n.822G>T c.-41G>T (n.-41G>T) c.449G>T (p.Trp150Leu) n.40G>T | dbSNP |