| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699978A>G | CA119795 | GHR | c.594A>G (p.Glu198=) c.528A>G (p.Glu176=) c.*206A>G (n.*206A>G) c.615A>G (p.Glu205=) c.549A>G (p.Glu183=) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.42699978A= | CA1542294336 | GHR | c.594A= (p.Glu198=) c.528A= (p.Glu176=) c.*206A= (n.*206A=) c.615A= (p.Glu205=) c.549A= (p.Glu183=) | dbSNP |