| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47878977C>T | CA119034 | VDR | c.137G>A (p.Gly46Asp) c.287G>A (p.Gly96Asp) c.206G>A (p.Gly69Asp) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47878977C>G | CA6534069 | VDR | c.137G>C (p.Gly46Ala) c.287G>C (p.Gly96Ala) c.206G>C (p.Gly69Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47878977C>A | CA6534068 | VDR | c.137G>T (p.Gly46Val) c.287G>T (p.Gly96Val) c.206G>T (p.Gly69Val) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |