| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47845003G>A | CA16606541 | VDR | c.1027C>T (p.Arg343Cys) c.*1029C>T (n.*1029C>T) c.1177C>T (p.Arg393Cys) c.1096C>T (p.Arg366Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47845003G= | CA2034409028 | VDR | c.1027C= (p.Arg343=) c.*1029C= (n.*1029C=) c.1177C= (p.Arg393=) c.1096C= (p.Arg366=) | dbSNP |