| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47844994C>T | CA119044 | VDR | c.1036G>A (p.Val346Met) c.*1038G>A (n.*1038G>A) c.1186G>A (p.Val396Met) c.1105G>A (p.Val369Met) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47844994C>A | CA384514632 | VDR | c.1036G>T (p.Val346Leu) c.*1038G>T (n.*1038G>T) c.1186G>T (p.Val396Leu) c.1105G>T (p.Val369Leu) | dbSNP gnomAD v4 |
| 12 | g.47844994C= | CA2034409024 | VDR | c.1036G= (p.Val346=) c.*1038G= (n.*1038G=) c.1186G= (p.Val396=) c.1105G= (p.Val369=) | dbSNP |