| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284337C>T | CA119467 | CASR | c.2152C>T (p.Arg718Trp) c.2413C>T (p.Arg805Trp) c.2383C>T (p.Arg795Trp) c.1900C>T (p.Arg634Trp) c.1795C>T (p.Arg599Trp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122284337C>G | CA354159678 | CASR | c.2152C>G (p.Arg718Gly) c.2413C>G (p.Arg805Gly) c.2383C>G (p.Arg795Gly) c.1900C>G (p.Arg634Gly) c.1795C>G (p.Arg599Gly) | ClinVar dbSNP |
| 3 | g.122284337C= | CA1397872200 | CASR | c.2152C= (p.Arg718=) c.2413C= (p.Arg805=) c.2383C= (p.Arg795=) c.1900C= (p.Arg634=) c.1795C= (p.Arg599=) | dbSNP |
| 3 | g.122284337C>A | CA435425159 | CASR | c.2152C>A (p.Arg718=) c.2413C>A (p.Arg805=) c.2383C>A (p.Arg795=) c.1900C>A (p.Arg634=) c.1795C>A (p.Arg599=) | ClinVar dbSNP gnomAD v4 |