| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42694985G>A | CA359695140 | GHR | c.335G>A (p.Cys112Tyr) c.269G>A (p.Cys90Tyr) c.205G>A (p.Val69Ile) c.356G>A (p.Cys119Tyr) c.290G>A (p.Cys97Tyr) | dbSNP |
| 5 | g.42694985G>C | CA119817 | GHR | c.335G>C (p.Cys112Ser) c.269G>C (p.Cys90Ser) c.205G>C (p.Val69Leu) c.356G>C (p.Cys119Ser) c.290G>C (p.Cys97Ser) | ClinVar dbSNP |