| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435713T>C | CA381702076 | DHCR7 | c.1090A>G (p.Thr364Ala) c.916A>G (p.Thr306Ala) c.1141A>G (p.Thr381Ala) c.1126A>G (p.Thr376Ala) c.1098A>G (p.Ala366=) n.1130A>G c.505A>G (p.Thr169Ala) c.994A>G (p.Thr332Ala) c.591A>G (p.Ala197=) c.340A>G (p.Thr114Ala) c.319+2099A>G c.1224A>G (p.Ala408=) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71435713T= | CA1981486974 | DHCR7 | c.1090A= (p.Thr364=) c.916A= (p.Thr306=) c.1141A= (p.Thr381=) c.1126A= (p.Thr376=) c.1098A= (p.Ala366=) n.1130A= c.505A= (p.Thr169=) c.994A= (p.Thr332=) c.591A= (p.Ala197=) c.340A= (p.Thr114=) c.319+2099A= c.1224A= (p.Ala408=) | dbSNP |