| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47846418A>C | CA119038 | VDR | c.941T>G (p.Ile314Ser) c.*943T>G (n.*943T>G) c.1091T>G (p.Ile364Ser) c.1010T>G (p.Ile337Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47846418A= | CA2034409694 | VDR | c.941T= (p.Ile314=) c.*943T= (n.*943T=) c.1091T= (p.Ile364=) c.1010T= (p.Ile337=) | dbSNP |