| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284208C>T | CA213584 | CASR | c.2023C>T (p.Arg675Cys) c.2284C>T (p.Arg762Cys) c.2254C>T (p.Arg752Cys) c.1771C>T (p.Arg591Cys) c.1666C>T (p.Arg556Cys) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284208C>A | CA354159191 | CASR | c.2023C>A (p.Arg675Ser) c.2284C>A (p.Arg762Ser) c.2254C>A (p.Arg752Ser) c.1771C>A (p.Arg591Ser) c.1666C>A (p.Arg556Ser) | ClinVar dbSNP |
| 3 | g.122284208C>G | CA354159192 | CASR | c.2023C>G (p.Arg675Gly) c.2284C>G (p.Arg762Gly) c.2254C>G (p.Arg752Gly) c.1771C>G (p.Arg591Gly) c.1666C>G (p.Arg556Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |