| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47879112A>T | CA236485206 | VDR | c.2T>A (p.Met1Lys) c.152T>A (p.Met51Lys) c.71T>A (p.Met24Lys) | dbSNP gnomAD v4 |
| 12 | g.47879112A>G | CA6534113 | VDR | c.2T>C (p.Met1Thr) c.152T>C (p.Met51Thr) c.71T>C (p.Met24Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47879112A>C | CA236485203 | VDR | c.2T>G (p.Met1Arg) c.152T>G (p.Met51Arg) c.71T>G (p.Met24Arg) | ClinVar dbSNP |