| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42694931G>A | CA16609443 | GHR | c.281G>A (p.Trp94Ter) c.215G>A (p.Trp72Ter) c.151G>A (p.Gly51Arg) c.302G>A (p.Trp101Ter) c.236G>A (p.Trp79Ter) | ClinVar dbSNP |
| 5 | g.42694931G= | CA1542287732 | GHR | c.281G= (p.Trp94=) c.215G= (p.Trp72=) c.151G= (p.Gly51=) c.302G= (p.Trp101=) c.236G= (p.Trp79=) | dbSNP |