| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47865085C>T | CA119026 | VDR | c.239G>A (p.Arg80Gln) c.*241G>A (n.*241G>A) c.389G>A (p.Arg130Gln) c.308G>A (p.Arg103Gln) | ClinVar dbSNP ExAC gnomAD v4 |
| 12 | g.47865085C= | CA2034418268 | VDR | c.239G= (p.Arg80=) c.*241G= (n.*241G=) c.389G= (p.Arg130=) c.308G= (p.Arg103=) | dbSNP |