| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122283867G>T | CA10588349 | CASR | c.1682G>T (p.Arg561Leu) c.1943G>T (p.Arg648Leu) c.1913G>T (p.Arg638Leu) c.1430G>T (p.Arg477Leu) c.1325G>T (p.Arg442Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.122283867G>A | CA2569760 | CASR | c.1682G>A (p.Arg561His) c.1943G>A (p.Arg648His) c.1913G>A (p.Arg638His) c.1430G>A (p.Arg477His) c.1325G>A (p.Arg442His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122283867G= | CA1397871148 | CASR | c.1682G= (p.Arg561=) c.1943G= (p.Arg648=) c.1913G= (p.Arg638=) c.1430G= (p.Arg477=) c.1325G= (p.Arg442=) | dbSNP dbSNP |