| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71437886T>C | CA381703045 | DHCR7 | c.889A>G (p.Ile297Val) c.715A>G (p.Ile239Val) c.940A>G (p.Ile314Val) c.925A>G (p.Ile309Val) n.929A>G c.304A>G (p.Ile102Val) c.793A>G (p.Ile265Val) c.256A>G (p.Ile86Val) c.139A>G (p.Ile47Val) c.245A>G | dbSNP |
| 11 | g.71437886T>G | CA381703044 | DHCR7 | c.889A>C (p.Ile297Leu) c.715A>C (p.Ile239Leu) c.940A>C (p.Ile314Leu) c.925A>C (p.Ile309Leu) n.929A>C c.304A>C (p.Ile102Leu) c.793A>C (p.Ile265Leu) c.256A>C (p.Ile86Leu) c.139A>C (p.Ile47Leu) c.245A>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 11 | g.71437886T= | CA1981488032 | DHCR7 | c.889A= (p.Ile297=) c.715A= (p.Ile239=) c.940A= (p.Ile314=) c.925A= (p.Ile309=) n.929A= c.304A= (p.Ile102=) c.793A= (p.Ile265=) c.256A= (p.Ile86=) c.139A= (p.Ile47=) c.245A= | dbSNP |