| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261531A>C | CA354150711 | CASR | c.496A>C (p.Ser166Arg) c.13A>C (p.Ser5Arg) c.-93A>C (n.-93A>C) | ClinVar dbSNP |
| 3 | g.122261531A>G | CA213601 | CASR | c.496A>G (p.Ser166Gly) c.13A>G (p.Ser5Gly) c.-93A>G (n.-93A>G) | ClinVar dbSNP |
| 3 | g.122261531A= | CA1397872817 | CASR | c.496A= (p.Ser166=) c.13A= (p.Ser5=) c.-93A= (n.-93A=) | dbSNP |