| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699892G>C | CA119811 | GHR | c.508G>C (p.Asp170His) c.442G>C (p.Asp148His) c.*120G>C (n.*120G>C) c.529G>C (p.Asp177His) c.463G>C (p.Asp155His) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42699892G= | CA1542294115 | GHR | c.508G= (p.Asp170=) c.442G= (p.Asp148=) c.*120G= (n.*120G=) c.529G= (p.Asp177=) c.463G= (p.Asp155=) | dbSNP |