| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699902T>G | CA119807 | GHR | c.518T>G (p.Val173Gly) c.452T>G (p.Val151Gly) c.*130T>G (n.*130T>G) c.539T>G (p.Val180Gly) c.473T>G (p.Val158Gly) | ClinVar dbSNP |
| 5 | g.42699902T>A | CA118048244 | GHR | c.518T>A (p.Val173Glu) c.452T>A (p.Val151Glu) c.*130T>A (n.*130T>A) c.539T>A (p.Val180Glu) c.473T>A (p.Val158Glu) | dbSNP |