| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47844974A>T | CA479696557 | VDR | c.1056T>A (p.Ile352=) c.*1058T>A (n.*1058T>A) c.1206T>A (p.Ile402=) c.1125T>A (p.Ile375=) | dbSNP gnomAD v4 |
| 12 | g.47844974A>G | CA6533764 | VDR | c.1056T>C (p.Ile352=) c.*1058T>C (n.*1058T>C) c.1206T>C (p.Ile402=) c.1125T>C (p.Ile375=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |