| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42711291C>T | CA119802 | GHR | c.703C>T (p.Arg235Ter) c.637C>T (p.Arg213Ter) c.*315C>T (n.*315C>T) c.724C>T (p.Arg242Ter) c.658C>T (p.Arg220Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711291C= | CA1542304857 | GHR | c.703C= (p.Arg235=) c.637C= (p.Arg213=) c.*315C= (n.*315C=) c.724C= (p.Arg242=) c.658C= (p.Arg220=) | dbSNP |