| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699888T>G | CA119819 | GHR | c.504T>G (p.His168Gln) c.438T>G (p.His146Gln) c.*116T>G (n.*116T>G) c.525T>G (p.His175Gln) c.459T>G (p.His153Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42699888T>C | CA3254423 | GHR | c.504T>C (p.His168=) c.438T>C (p.His146=) c.*116T>C (n.*116T>C) c.525T>C (p.His175=) c.459T>C (p.His153=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |