| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42688937G>A | CA119798 | GHR | c.184G>A (p.Glu62Lys) c.118G>A (p.Glu40Lys) c.137-5980G>A (n.137-5980G>A) c.205G>A (p.Glu69Lys) c.139G>A (p.Glu47Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42688937G= | CA1542276752 | GHR | c.184G= (p.Glu62=) c.118G= (p.Glu40=) c.137-5980G= (n.137-5980G=) c.205G= (p.Glu69=) c.139G= (p.Glu47=) | dbSNP |