| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261715G>A | CA212891 | CASR | c.680G>A (p.Arg227Gln) c.197G>A (p.Arg66Gln) c.92G>A (p.Arg31Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 3 | g.122261715G>T | CA119475 | CASR | c.680G>T (p.Arg227Leu) c.197G>T (p.Arg66Leu) c.92G>T (p.Arg31Leu) | ClinVar dbSNP |
| 3 | g.122261715G= | CA1397873011 | CASR | c.680G= (p.Arg227=) c.197G= (p.Arg66=) c.92G= (p.Arg31=) | dbSNP |