| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42694991T>C | CA119790 | GHR | c.341T>C (p.Phe114Ser) c.275T>C (p.Phe92Ser) c.211T>C (p.Leu71=) c.362T>C (p.Phe121Ser) c.296T>C (p.Phe99Ser) | ClinVar dbSNP |
| 5 | g.42694991T>G | CA359695156 | GHR | c.341T>G (p.Phe114Cys) c.275T>G (p.Phe92Cys) c.211T>G (p.Leu71Val) c.362T>G (p.Phe121Cys) c.296T>G (p.Phe99Cys) | dbSNP gnomAD v4 |
| 5 | g.42694991T= | CA1542287856 | GHR | c.341T= (p.Phe114=) c.275T= (p.Phe92=) c.211T= (p.Leu71=) c.362T= (p.Phe121=) c.296T= (p.Phe99=) | dbSNP |