| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.71441392G>A | CA274131 | DHCR7 | c.461C>T (p.Thr154Met) c.287C>T (p.Thr96Met) c.497C>T (p.Thr166Met) n.738C>T c.-125C>T (n.-125C>T) c.365C>T (p.Thr122Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.71441392G>C | CA233884 | DHCR7 | c.461C>G (p.Thr154Arg) c.287C>G (p.Thr96Arg) c.497C>G (p.Thr166Arg) n.738C>G c.-125C>G (n.-125C>G) c.365C>G (p.Thr122Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |