| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47865106C>T | CA119020 | VDR | c.218G>A (p.Arg73Gln) c.*220G>A (n.*220G>A) c.368G>A (p.Arg123Gln) c.287G>A (p.Arg96Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47865106C= | CA2034418279 | VDR | c.218G= (p.Arg73=) c.*220G= (n.*220G=) c.368G= (p.Arg123=) c.287G= (p.Arg96=) | dbSNP |
| 12 | g.47865106C>G | CA384511483 | VDR | c.218G>C (p.Arg73Pro) c.*220G>C (n.*220G>C) c.368G>C (p.Arg123Pro) c.287G>C (p.Arg96Pro) | dbSNP |