| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47846444G>C | CA119036 | VDR | c.915C>G (p.His305Gln) c.*917C>G (n.*917C>G) c.1065C>G (p.His355Gln) c.984C>G (p.His328Gln) | ClinVar dbSNP |
| 12 | g.47846444G>A | CA479434441 | VDR | c.915C>T (p.His305=) c.*917C>T (n.*917C>T) c.1065C>T (p.His355=) c.984C>T (p.His328=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47846444G= | CA2034409705 | VDR | c.915C= (p.His305=) c.*917C= (n.*917C=) c.1065C= (p.His355=) c.984C= (p.His328=) | dbSNP |