| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284647G>T | CA354160569 | CASR | c.2462G>T (p.Arg821Leu) c.2723G>T (p.Arg908Leu) c.2693G>T (p.Arg898Leu) c.2210G>T (p.Arg737Leu) c.2105G>T (p.Arg702Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.122284647G>A | CA119549 | CASR | c.2462G>A (p.Arg821Gln) c.2723G>A (p.Arg908Gln) c.2693G>A (p.Arg898Gln) c.2210G>A (p.Arg737Gln) c.2105G>A (p.Arg702Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |