| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261714C>T | CA354151112 | CASR | c.679C>T (p.Arg227Ter) c.196C>T (p.Arg66Ter) c.91C>T (p.Arg31Ter) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261714C>A | CA435424232 | CASR | c.679C>A (p.Arg227=) c.196C>A (p.Arg66=) c.91C>A (p.Arg31=) | dbSNP gnomAD v2 |
| 3 | g.122261714C>G | CA354151111 | CASR | c.679C>G (p.Arg227Gly) c.196C>G (p.Arg66Gly) c.91C>G (p.Arg31Gly) | ClinVar dbSNP gnomAD v2 gnomAD v4 |