| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47846679G>T | CA119022 | VDR | c.885C>A (p.Tyr295Ter) c.*887C>A (n.*887C>A) c.1035C>A (p.Tyr345Ter) c.954C>A (p.Tyr318Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846679G= | CA2034409823 | VDR | c.885C= (p.Tyr295=) c.*887C= (n.*887C=) c.1035C= (p.Tyr345=) c.954C= (p.Tyr318=) | dbSNP |
| 12 | g.47846679G>A | CA479434536 | VDR | c.885C>T (p.Tyr295=) c.*887C>T (n.*887C>T) c.1035C>T (p.Tyr345=) c.954C>T (p.Tyr318=) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |