| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435461C>G | CA381700721 | DHCR7 | c.1342G>C (p.Glu448Gln) c.1168G>C (p.Glu390Gln) c.1393G>C (p.Glu465Gln) c.1378G>C (p.Glu460Gln) c.*105G>C (n.*105G>C) n.1382G>C c.757G>C (p.Glu253Gln) c.1246G>C (p.Glu416Gln) c.843G>C (n.843G>C) c.592G>C (p.Glu198Gln) c.319+2351G>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435461C>T | CA118513 | DHCR7 | c.1342G>A (p.Glu448Lys) c.1168G>A (p.Glu390Lys) c.1393G>A (p.Glu465Lys) c.1378G>A (p.Glu460Lys) c.*105G>A (n.*105G>A) n.1382G>A c.757G>A (p.Glu253Lys) c.1246G>A (p.Glu416Lys) c.843G>A (n.843G>A) c.592G>A (p.Glu198Lys) c.319+2351G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 11 | g.71435461C= | CA1981486831 | DHCR7 | c.1342G= (p.Glu448=) c.1168G= (p.Glu390=) c.1393G= (p.Glu465=) c.1378G= (p.Glu460=) c.*105G= (n.*105G=) n.1382G= c.757G= (p.Glu253=) c.1246G= (p.Glu416=) c.843G= (n.843G=) c.592G= (p.Glu198=) c.319+2351G= | dbSNP |
| 11 | g.71435461C>A | CA381700725 | DHCR7 | c.1342G>T (p.Glu448Ter) c.1168G>T (p.Glu390Ter) c.1393G>T (p.Glu465Ter) c.1378G>T (p.Glu460Ter) c.*105G>T (n.*105G>T) n.1382G>T c.757G>T (p.Glu253Ter) c.1246G>T (p.Glu416Ter) c.843G>T (n.843G>T) c.592G>T (p.Glu198Ter) c.319+2351G>T | dbSNP gnomAD v4 |