| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699919C>T | CA119799 | GHR | c.535C>T (p.Arg179Cys) c.469C>T (p.Arg157Cys) c.*147C>T (n.*147C>T) c.556C>T (p.Arg186Cys) c.490C>T (p.Arg164Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42699919C>G | CA359695579 | GHR | c.535C>G (p.Arg179Gly) c.469C>G (p.Arg157Gly) c.*147C>G (n.*147C>G) c.556C>G (p.Arg186Gly) c.490C>G (p.Arg164Gly) | dbSNP gnomAD v4 |
| 5 | g.42699919C= | CA1542294189 | GHR | c.535C= (p.Arg179=) c.469C= (p.Arg157=) c.*147C= (n.*147C=) c.556C= (p.Arg186=) c.490C= (p.Arg164=) | dbSNP |