| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42711314G>C | CA119800 | GHR | c.726G>C (p.Glu242Asp) c.660G>C (p.Glu220Asp) c.*338G>C (n.*338G>C) c.747G>C (p.Glu249Asp) c.681G>C (p.Glu227Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711314G= | CA1542304912 | GHR | c.726G= (p.Glu242=) c.660G= (p.Glu220=) c.*338G= (n.*338G=) c.747G= (p.Glu249=) c.681G= (p.Glu227=) | dbSNP |
| 5 | g.42711314G>A | CA443847944 | GHR | c.726G>A (p.Glu242=) c.660G>A (p.Glu220=) c.*338G>A (n.*338G>A) c.747G>A (p.Glu249=) c.681G>A (p.Glu227=) | ClinVar dbSNP |