Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122284611G>A | CA354160502 | CASR | c.2426G>A (p.Arg809Gln) c.2687G>A (p.Arg896Gln) c.2657G>A (p.Arg886Gln) c.2174G>A (p.Arg725Gln) c.2069G>A (p.Arg690Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
3 | g.122284611G>C | CA16604355 | CASR | c.2426G>C (p.Arg809Pro) c.2687G>C (p.Arg896Pro) c.2657G>C (p.Arg886Pro) c.2174G>C (p.Arg725Pro) c.2069G>C (p.Arg690Pro) | ClinVar dbSNP gnomAD v4 |