| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283896C>A | CA82748651 | CASR | c.1711C>A (p.Arg571=) c.1972C>A (p.Arg658=) c.1942C>A (p.Arg648=) c.1459C>A (p.Arg487=) c.1354C>A (p.Arg452=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283896C>T | CA119517 | CASR | c.1711C>T (p.Arg571Ter) c.1972C>T (p.Arg658Ter) c.1942C>T (p.Arg648Ter) c.1459C>T (p.Arg487Ter) c.1354C>T (p.Arg452Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.122283896C>G | CA2569762 | CASR | c.1711C>G (p.Arg571Gly) c.1972C>G (p.Arg658Gly) c.1942C>G (p.Arg648Gly) c.1459C>G (p.Arg487Gly) c.1354C>G (p.Arg452Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |