| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42629069G>A | CA119813 | GHR | c.102G>A (p.Trp34Ter) c.71-59821G>A (n.71-59821G>A) c.123G>A (p.Trp41Ter) c.92-59821G>A (n.92-59821G>A) | ClinVar dbSNP |
| 5 | g.42629069G>C | CA118040331 | GHR | c.102G>C (p.Trp34Cys) c.71-59821G>C (n.71-59821G>C) c.123G>C (p.Trp41Cys) c.92-59821G>C (n.92-59821G>C) | dbSNP gnomAD v3 gnomAD v4 |