| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437869G>A | CA247591 | DHCR7 | c.906C>T (p.Phe302=) c.732C>T (p.Phe244=) c.957C>T (p.Phe319=) c.942C>T (p.Phe314=) n.946C>T c.321C>T (p.Phe107=) c.810C>T (p.Phe270=) c.273C>T (p.Phe91=) c.156C>T (p.Phe52=) c.262C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71437869G>C | CA341833 | DHCR7 | c.906C>G (p.Phe302Leu) c.732C>G (p.Phe244Leu) c.957C>G (p.Phe319Leu) c.942C>G (p.Phe314Leu) n.946C>G c.321C>G (p.Phe107Leu) c.810C>G (p.Phe270Leu) c.273C>G (p.Phe91Leu) c.156C>G (p.Phe52Leu) c.262C>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71437869G>T | CA381703001 | DHCR7 | c.906C>A (p.Phe302Leu) c.732C>A (p.Phe244Leu) c.957C>A (p.Phe319Leu) c.942C>A (p.Phe314Leu) n.946C>A c.321C>A (p.Phe107Leu) c.810C>A (p.Phe270Leu) c.273C>A (p.Phe91Leu) c.156C>A (p.Phe52Leu) c.262C>A | dbSNP |