| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47879026G>A | CA119042 | VDR | c.88C>T (p.Arg30Ter) c.238C>T (p.Arg80Ter) c.157C>T (p.Arg53Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47879026G>C | CA6534083 | VDR | c.88C>G (p.Arg30Gly) c.238C>G (p.Arg80Gly) c.157C>G (p.Arg53Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |