| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122282180C>T | CA2569722 | CASR | c.1445C>T (p.Pro482Leu) c.1706C>T (p.Pro569Leu) c.1676C>T (p.Pro559Leu) c.1193C>T (p.Pro398Leu) c.1088C>T (p.Pro363Leu) | dbSNP ExAC gnomAD v2 |
| 3 | g.122282180C>A | CA213567 | CASR | c.1445C>A (p.Pro482His) c.1706C>A (p.Pro569His) c.1676C>A (p.Pro559His) c.1193C>A (p.Pro398His) c.1088C>A (p.Pro363His) | ClinVar dbSNP |
| 3 | g.122282180C= | CA1397885820 | CASR | c.1445C= (p.Pro482=) c.1706C= (p.Pro569=) c.1676C= (p.Pro559=) c.1193C= (p.Pro398=) c.1088C= (p.Pro363=) | dbSNP |