| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46902542A>C | CA123422 | PTH1R | c.1228A>C (p.Thr410Pro) c.*165A>C (n.*165A>C) c.1135A>C (p.Thr379Pro) c.1267A>C (p.Thr423Pro) c.1249A>C (p.Thr417Pro) c.1263A>C (p.Pro421=) | ClinVar dbSNP |
| 3 | g.46902542A= | CA1362317183 | PTH1R | c.1228A= (p.Thr410=) c.*165A= (n.*165A=) c.1135A= (p.Thr379=) c.1267A= (p.Thr423=) c.1249A= (p.Thr417=) c.1263A= (p.Pro421=) | dbSNP |