| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47846743C>A | CA119032 | VDR | c.821G>T (p.Arg274Leu) c.*823G>T (n.*823G>T) c.971G>T (p.Arg324Leu) c.890G>T (p.Arg297Leu) | ClinVar dbSNP |
| 12 | g.47846743C>T | CA384516583 | VDR | c.821G>A (p.Arg274His) c.*823G>A (n.*823G>A) c.971G>A (p.Arg324His) c.890G>A (p.Arg297His) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47846743C>G | CA384516581 | VDR | c.821G>C (p.Arg274Pro) c.*823G>C (n.*823G>C) c.971G>C (p.Arg324Pro) c.890G>C (p.Arg297Pro) | ClinVar dbSNP |
| 12 | g.47846743C= | CA2034409837 | VDR | c.821G= (p.Arg274=) c.*823G= (n.*823G=) c.971G= (p.Arg324=) c.890G= (p.Arg297=) | dbSNP |