| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42688921C>A | CA119793 | GHR | c.168C>A (p.Cys56Ter) c.102C>A (p.Cys34Ter) c.137-5996C>A (n.137-5996C>A) c.189C>A (p.Cys63Ter) c.123C>A (p.Cys41Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42688921C= | CA1542276669 | GHR | c.168C= (p.Cys56=) c.102C= (p.Cys34=) c.137-5996C= (n.137-5996C=) c.189C= (p.Cys63=) c.123C= (p.Cys41=) | dbSNP |