| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122261612C>T | CA16617814 | CASR | c.577C>T (p.Gln193Ter) c.94C>T (p.Gln32Ter) c.-12C>T (n.-12C>T) | ClinVar dbSNP |
| 3 | g.122261612C>A | CA354150884 | CASR | c.577C>A (p.Gln193Lys) c.94C>A (p.Gln32Lys) c.-12C>A (n.-12C>A) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122261612C= | CA1397872907 | CASR | c.577C= (p.Gln193=) c.94C= (p.Gln32=) c.-12C= (n.-12C=) | dbSNP |