| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71435665A>G | CA6162305 | DHCR7 | c.1138T>C (p.Cys380Arg) c.964T>C (p.Cys322Arg) c.1189T>C (p.Cys397Arg) c.1174T>C (p.Cys392Arg) c.1146T>C (p.Ser382=) n.1178T>C c.553T>C (p.Cys185Arg) c.1042T>C (p.Cys348Arg) c.639T>C (p.Ser213=) c.388T>C (p.Cys130Arg) c.319+2147T>C c.1272T>C (p.Ser424=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71435665A= | CA1981486947 | DHCR7 | c.1138T= (p.Cys380=) c.964T= (p.Cys322=) c.1189T= (p.Cys397=) c.1174T= (p.Cys392=) c.1146T= (p.Ser382=) n.1178T= c.553T= (p.Cys185=) c.1042T= (p.Cys348=) c.639T= (p.Ser213=) c.388T= (p.Cys130=) c.319+2147T= c.1272T= (p.Ser424=) | dbSNP |