| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47865175C>A | CA384511778 | VDR | c.149G>T (p.Arg50Leu) c.*151G>T (n.*151G>T) c.299G>T (p.Arg100Leu) c.218G>T (p.Arg73Leu) | dbSNP |
| 12 | g.47865175C>T | CA119028 | VDR | c.149G>A (p.Arg50Gln) c.*151G>A (n.*151G>A) c.299G>A (p.Arg100Gln) c.218G>A (p.Arg73Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |