| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47844859G>A | CA119040 | VDR | c.1171C>T (p.Arg391Cys) c.*1173C>T (n.*1173C>T) c.1321C>T (p.Arg441Cys) c.1240C>T (p.Arg414Cys) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47844859G>T | CA10588005 | VDR | c.1171C>A (p.Arg391Ser) c.*1173C>A (n.*1173C>A) c.1321C>A (p.Arg441Ser) c.1240C>A (p.Arg414Ser) | ClinVar dbSNP |
| 12 | g.47844859G= | CA2034408959 | VDR | c.1171C= (p.Arg391=) c.*1173C= (n.*1173C=) c.1321C= (p.Arg441=) c.1240C= (p.Arg414=) | dbSNP |