Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.122283997G>T | CA119479 | CASR | c.1812G>T (p.Gln604His) c.2073G>T (p.Gln691His) c.2043G>T (p.Gln681His) c.1560G>T (p.Gln520His) c.1455G>T (p.Gln485His) | ClinVar dbSNP |
3 | g.122283997G= | CA1397871451 | CASR | c.1812G= (p.Gln604=) c.2073G= (p.Gln691=) c.2043G= (p.Gln681=) c.1560G= (p.Gln520=) c.1455G= (p.Gln485=) | dbSNP |