| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 3 | g.122275828G>A | CA119537 | CASR | c.1378-6285G>A (n.1378-6285G>A) c.1394G>A (p.Arg465Gln) c.911G>A (p.Arg304Gln) c.806G>A (p.Arg269Gln) | ClinVar dbSNP gnomAD v4 |
| 3 | g.122275828G>T | CA354154832 | CASR | c.1378-6285G>T (n.1378-6285G>T) c.1394G>T (p.Arg465Leu) c.911G>T (p.Arg304Leu) c.806G>T (p.Arg269Leu) | dbSNP gnomAD v4 |