| 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 |