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 |