| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435419A>G | CA221656 | DHCR7 | c.1384T>C (p.Tyr462His) c.1210T>C (p.Tyr404His) c.1435T>C (p.Tyr479His) c.1420T>C (p.Tyr474His) c.*147T>C (n.*147T>C) n.1424T>C c.799T>C (p.Tyr267His) c.1288T>C (p.Tyr430His) c.885T>C (n.885T>C) c.611+23T>C (n.611+23T>C) c.319+2393T>C | ClinVar dbSNP gnomAD v4 |
| 11 | g.71435419A= | CA1981486801 | DHCR7 | c.1384T= (p.Tyr462=) c.1210T= (p.Tyr404=) c.1435T= (p.Tyr479=) c.1420T= (p.Tyr474=) c.*147T= (n.*147T=) n.1424T= c.799T= (p.Tyr267=) c.1288T= (p.Tyr430=) c.885T= (n.885T=) c.611+23T= (n.611+23T=) c.319+2393T= | dbSNP |