| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42688934C>T | CA119791 | GHR | c.181C>T (p.Arg61Ter) c.115C>T (p.Arg39Ter) c.137-5983C>T (n.137-5983C>T) c.202C>T (p.Arg68Ter) c.136C>T (p.Arg46Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42688934C>G | CA3254347 | GHR | c.181C>G (p.Arg61Gly) c.115C>G (p.Arg39Gly) c.137-5983C>G (n.137-5983C>G) c.202C>G (p.Arg68Gly) c.136C>G (p.Arg46Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.42688934C>A | CA443836742 | GHR | c.181C>A (p.Arg61=) c.115C>A (p.Arg39=) c.137-5983C>A (n.137-5983C>A) c.202C>A (p.Arg68=) c.136C>A (p.Arg46=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |