| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283968C>T | CA354158305 | CASR | c.1783C>T (p.Pro595Ser) c.2044C>T (p.Pro682Ser) c.2014C>T (p.Pro672Ser) c.1531C>T (p.Pro511Ser) c.1426C>T (p.Pro476Ser) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122283968C>A | CA213577 | CASR | c.1783C>A (p.Pro595Thr) c.2044C>A (p.Pro682Thr) c.2014C>A (p.Pro672Thr) c.1531C>A (p.Pro511Thr) c.1426C>A (p.Pro476Thr) | ClinVar dbSNP gnomAD v4 COSMIC |