| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122284910G>A | CA354161140 | CASR | c.2725G>A (p.Ala909Thr) c.2986G>A (p.Ala996Thr) c.2956G>A (p.Ala986Thr) c.2473G>A (p.Ala825Thr) c.2368G>A (p.Ala790Thr) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122284910G>T | CA119531 | CASR | c.2725G>T (p.Ala909Ser) c.2986G>T (p.Ala996Ser) c.2956G>T (p.Ala986Ser) c.2473G>T (p.Ala825Ser) c.2368G>T (p.Ala790Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |