| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122257275A>C | CA119473 | CASR | c.380A>C (p.Glu127Ala) n.299A>C n.239A>C c.9+2901A>C (n.9+2901A>C) | ClinVar dbSNP |
| 3 | g.122257275A>G | CA213599 | CASR | c.380A>G (p.Glu127Gly) n.299A>G n.239A>G c.9+2901A>G (n.9+2901A>G) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122257275A= | CA1397870956 | CASR | c.380A= (p.Glu127=) n.299A= n.239A= c.9+2901A= (n.9+2901A=) | dbSNP |