| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47846374C>T | CA119024 | VDR | c.985G>A (p.Glu329Lys) c.*987G>A (n.*987G>A) c.1135G>A (p.Glu379Lys) c.1054G>A (p.Glu352Lys) | ClinVar dbSNP |
| 12 | g.47846374C>A | CA384515474 | VDR | c.985G>T (p.Glu329Ter) c.*987G>T (n.*987G>T) c.1135G>T (p.Glu379Ter) c.1054G>T (p.Glu352Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47846374C= | CA2034409676 | VDR | c.985G= (p.Glu329=) c.*987G= (n.*987G=) c.1135G= (p.Glu379=) c.1054G= (p.Glu352=) | dbSNP |
| 12 | g.47846374C>G | CA384515475 | VDR | c.985G>C (p.Glu329Gln) c.*987G>C (n.*987G>C) c.1135G>C (p.Glu379Gln) c.1054G>C (p.Glu352Gln) | ClinVar dbSNP |