| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284403G>A | CA16043395 | CASR | c.2218G>A (p.Val740Ile) c.2479G>A (p.Val827Ile) c.2449G>A (p.Val817Ile) c.1966G>A (p.Val656Ile) c.1861G>A (p.Val621Ile) | ClinVar dbSNP COSMIC |
| 3 | g.122284403G>C | CA354159828 | CASR | c.2218G>C (p.Val740Leu) c.2479G>C (p.Val827Leu) c.2449G>C (p.Val817Leu) c.1966G>C (p.Val656Leu) c.1861G>C (p.Val621Leu) | ClinVar dbSNP |