| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441278G>A | CA6162531 | DHCR7 | c.575C>T (p.Ser192Phe) c.401C>T (p.Ser134Phe) c.611C>T (p.Ser204Phe) n.852C>T c.-11C>T (n.-11C>T) c.479C>T (p.Ser160Phe) n.70C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 11 | g.71441278G>C | CA381694392 | DHCR7 | c.575C>G (p.Ser192Cys) c.401C>G (p.Ser134Cys) c.611C>G (p.Ser204Cys) n.852C>G c.-11C>G (n.-11C>G) c.479C>G (p.Ser160Cys) n.70C>G | ClinVar dbSNP |
| 11 | g.71441278G= | CA1981489703 | DHCR7 | c.575C= (p.Ser192=) c.401C= (p.Ser134=) c.611C= (p.Ser204=) n.852C= c.-11C= (n.-11C=) c.479C= (p.Ser160=) n.70C= | dbSNP |