| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46898097C>T | CA2359185 | PTH1R | c.448C>T (p.Arg150Cys) n.468C>T c.355C>T (p.Arg119Cys) c.487C>T (p.Arg163Cys) c.469C>T (p.Arg157Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.46898097C= | CA1362309983 | PTH1R | c.448C= (p.Arg150=) n.468C= c.355C= (p.Arg119=) c.487C= (p.Arg163=) c.469C= (p.Arg157=) | dbSNP |