| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261589G>C | CA354150836 | CASR | c.554G>C (p.Arg185Pro) c.71G>C (p.Arg24Pro) c.-35G>C (n.-35G>C) | ClinVar dbSNP |
| 3 | g.122261589G>A | CA119471 | CASR | c.554G>A (p.Arg185Gln) c.71G>A (p.Arg24Gln) c.-35G>A (n.-35G>A) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261589G>T | CA354150837 | CASR | c.554G>T (p.Arg185Leu) c.71G>T (p.Arg24Leu) c.-35G>T (n.-35G>T) | ClinVar dbSNP |