| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47879016C>T | CA119018 | VDR | c.98G>A (p.Gly33Asp) c.248G>A (p.Gly83Asp) c.167G>A (p.Gly56Asp) | ClinVar dbSNP gnomAD v4 COSMIC |
| 12 | g.47879016C>G | CA6534080 | VDR | c.98G>C (p.Gly33Ala) c.248G>C (p.Gly83Ala) c.167G>C (p.Gly56Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47879016C= | CA2034429343 | VDR | c.98G= (p.Gly33=) c.248G= (p.Gly83=) c.167G= (p.Gly56=) | dbSNP |