| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71444036G>A | CA221665 | DHCR7 | c.278C>T (p.Thr93Met) c.104C>T (p.Thr35Met) n.555C>T c.-308C>T (n.-308C>T) c.182C>T (p.Thr61Met) c.218C>T (p.Thr73Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71444036G= | CA1981491030 | DHCR7 | c.278C= (p.Thr93=) c.104C= (p.Thr35=) n.555C= c.-308C= (n.-308C=) c.182C= (p.Thr61=) c.218C= (p.Thr73=) | dbSNP |
| 11 | g.71444036G>C | CA381696166 | DHCR7 | c.278C>G (p.Thr93Arg) c.104C>G (p.Thr35Arg) n.555C>G c.-308C>G (n.-308C>G) c.182C>G (p.Thr61Arg) c.218C>G (p.Thr73Arg) | dbSNP |
| 11 | g.71444036G>T | CA381696172 | DHCR7 | c.278C>A (p.Thr93Lys) c.104C>A (p.Thr35Lys) n.555C>A c.-308C>A (n.-308C>A) c.182C>A (p.Thr61Lys) c.218C>A (p.Thr73Lys) | ClinVar dbSNP |