| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.46898112G>A | CA2359189 | PTH1R | c.463G>A (p.Glu155Lys) n.483G>A c.370G>A (p.Glu124Lys) c.502G>A (p.Glu168Lys) c.484G>A (p.Glu162Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.46898112G>T | CA123432 | PTH1R | c.463G>T (p.Glu155Ter) n.483G>T c.370G>T (p.Glu124Ter) c.502G>T (p.Glu168Ter) c.484G>T (p.Glu162Ter) | ClinVar dbSNP |