| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261588C>A | CA2569506 | CASR | c.553C>A (p.Arg185=) c.70C>A (p.Arg24=) c.-36C>A (n.-36C>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.122261588C>T | CA119523 | CASR | c.553C>T (p.Arg185Ter) c.70C>T (p.Arg24Ter) c.-36C>T (n.-36C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.122261588C= | CA1397872879 | CASR | c.553C= (p.Arg185=) c.70C= (p.Arg24=) c.-36C= (n.-36C=) | dbSNP |