| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42711312G>A | CA3254478 | GHR | c.724G>A (p.Glu242Lys) c.658G>A (p.Glu220Lys) c.*336G>A (n.*336G>A) c.745G>A (p.Glu249Lys) c.679G>A (p.Glu227Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42711312G>T | CA119805 | GHR | c.724G>T (p.Glu242Ter) c.658G>T (p.Glu220Ter) c.*336G>T (n.*336G>T) c.745G>T (p.Glu249Ter) c.679G>T (p.Glu227Ter) | ClinVar dbSNP |