| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435812G>A | CA16041548 | DHCR7 | c.991C>T (p.Gln331Ter) c.817C>T (p.Gln273Ter) c.1042C>T (p.Gln348Ter) c.1027C>T (p.Gln343Ter) c.999C>T (p.Cys333=) n.1031C>T c.406C>T (p.Gln136Ter) c.895C>T (p.Gln299Ter) c.492C>T (p.Cys164=) c.241C>T (p.Gln81Ter) c.319+2000C>T c.1125C>T (p.Cys375=) | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435812G>C | CA381702517 | DHCR7 | c.991C>G (p.Gln331Glu) c.817C>G (p.Gln273Glu) c.1042C>G (p.Gln348Glu) c.1027C>G (p.Gln343Glu) c.999C>G (p.Cys333Trp) n.1031C>G c.406C>G (p.Gln136Glu) c.895C>G (p.Gln299Glu) c.492C>G (p.Cys164Trp) c.241C>G (p.Gln81Glu) c.319+2000C>G c.1125C>G (p.Cys375Trp) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |