| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444022G>A | CA273887 | DHCR7 | c.292C>T (p.Gln98Ter) c.118C>T (p.Gln40Ter) n.569C>T c.-294C>T (n.-294C>T) c.196C>T (p.Gln66Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444022G= | CA1981491022 | DHCR7 | c.292C= (p.Gln98=) c.118C= (p.Gln40=) n.569C= c.-294C= (n.-294C=) c.196C= (p.Gln66=) | dbSNP |
| 11 | g.71444022G>C | CA381696045 | DHCR7 | c.292C>G (p.Gln98Glu) c.118C>G (p.Gln40Glu) n.569C>G c.-294C>G (n.-294C>G) c.196C>G (p.Gln66Glu) | dbSNP gnomAD v4 |