| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435664C>T | CA274343 | DHCR7 | c.1139G>A (p.Cys380Tyr) c.965G>A (p.Cys322Tyr) c.1190G>A (p.Cys397Tyr) c.1175G>A (p.Cys392Tyr) c.1147G>A (p.Ala383Thr) n.1179G>A c.554G>A (p.Cys185Tyr) c.1043G>A (p.Cys348Tyr) c.640G>A (p.Ala214Thr) c.389G>A (p.Cys130Tyr) c.319+2148G>A c.1273G>A (p.Ala425Thr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435664C>A | CA6162304 | DHCR7 | c.1139G>T (p.Cys380Phe) c.965G>T (p.Cys322Phe) c.1190G>T (p.Cys397Phe) c.1175G>T (p.Cys392Phe) c.1147G>T (p.Ala383Ser) n.1179G>T c.554G>T (p.Cys185Phe) c.1043G>T (p.Cys348Phe) c.640G>T (p.Ala214Ser) c.389G>T (p.Cys130Phe) c.319+2148G>T c.1273G>T (p.Ala425Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |