Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
3 | g.46902543C>T | CA2359466 | PTH1R | c.1229C>T (p.Thr410Met) c.*166C>T (n.*166C>T) c.1136C>T (p.Thr379Met) c.1268C>T (p.Thr423Met) c.1250C>T (p.Thr417Met) c.1264C>T (p.Arg422Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
3 | g.46902543C>G | CA123427 | PTH1R | c.1229C>G (p.Thr410Arg) c.*166C>G (n.*166C>G) c.1136C>G (p.Thr379Arg) c.1268C>G (p.Thr423Arg) c.1250C>G (p.Thr417Arg) c.1264C>G (p.Arg422Gly) | ClinVar dbSNP |