| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437923G>T | CA224326709 | DHCR7 | c.852C>A (p.Phe284Leu) c.678C>A (p.Phe226Leu) c.903C>A (p.Phe301Leu) c.888C>A (p.Phe296Leu) n.892C>A c.267C>A (p.Phe89Leu) c.756C>A (p.Phe252Leu) c.219C>A (p.Phe73Leu) c.102C>A (p.Phe34Leu) c.208C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71437923G= | CA1981488055 | DHCR7 | c.852C= (p.Phe284=) c.678C= (p.Phe226=) c.903C= (p.Phe301=) c.888C= (p.Phe296=) n.892C= c.267C= (p.Phe89=) c.756C= (p.Phe252=) c.219C= (p.Phe73=) c.102C= (p.Phe34=) c.208C= | dbSNP |