| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699943T>C | CA10586364 | GHR | c.559T>C (p.Trp187Arg) c.493T>C (p.Trp165Arg) c.*171T>C (n.*171T>C) c.580T>C (p.Trp194Arg) c.514T>C (p.Trp172Arg) | ClinVar dbSNP |
| 5 | g.42699943T>G | CA359695630 | GHR | c.559T>G (p.Trp187Gly) c.493T>G (p.Trp165Gly) c.*171T>G (n.*171T>G) c.580T>G (p.Trp194Gly) c.514T>G (p.Trp172Gly) | dbSNP gnomAD v4 |
| 5 | g.42699943T= | CA1542294280 | GHR | c.559T= (p.Trp187=) c.493T= (p.Trp165=) c.*171T= (n.*171T=) c.580T= (p.Trp194=) c.514T= (p.Trp172=) | dbSNP |