| 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 |
| 5 | g.42694985G= | CA1542287828 | GHR | c.335G= (p.Cys112=) c.269G= (p.Cys90=) c.205G= (p.Val69=) c.356G= (p.Cys119=) c.290G= (p.Cys97=) | dbSNP |
| 5 | g.42694985G>T | CA359695141 | GHR | c.335G>T (p.Cys112Phe) c.269G>T (p.Cys90Phe) c.205G>T (p.Val69Phe) c.356G>T (p.Cys119Phe) c.290G>T (p.Cys97Phe) | ClinVar dbSNP |