| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699899A>C | CA119804 | GHR | c.515A>C (p.Gln172Pro) c.449A>C (p.Gln150Pro) c.*127A>C (n.*127A>C) c.536A>C (p.Gln179Pro) c.470A>C (p.Gln157Pro) | ClinVar dbSNP gnomAD v4 |
| 5 | g.42699899A>T | CA359695537 | GHR | c.515A>T (p.Gln172Leu) c.449A>T (p.Gln150Leu) c.*127A>T (n.*127A>T) c.536A>T (p.Gln179Leu) c.470A>T (p.Gln157Leu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42699899A= | CA1542294138 | GHR | c.515A= (p.Gln172=) c.449A= (p.Gln150=) c.*127A= (n.*127A=) c.536A= (p.Gln179=) c.470A= (p.Gln157=) | dbSNP |