| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435575C>G | CA381701371 | DHCR7 | c.1228G>C (p.Gly410Arg) c.1054G>C (p.Gly352Arg) c.1279G>C (p.Gly427Arg) c.1264G>C (p.Gly422Arg) c.1236G>C (p.Ser412=) n.1268G>C c.643G>C (p.Gly215Arg) c.1132G>C (p.Gly378Arg) c.729G>C (p.Ser243=) c.478G>C (p.Gly160Arg) c.319+2237G>C c.1362G>C (p.Ser454=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435575C>T | CA221650 | DHCR7 | c.1228G>A (p.Gly410Ser) c.1054G>A (p.Gly352Ser) c.1279G>A (p.Gly427Ser) c.1264G>A (p.Gly422Ser) c.1236G>A (p.Ser412=) n.1268G>A c.643G>A (p.Gly215Ser) c.1132G>A (p.Gly378Ser) c.729G>A (p.Ser243=) c.478G>A (p.Gly160Ser) c.319+2237G>A c.1362G>A (p.Ser454=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |