| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699896T>C | CA119812 | GHR | c.512T>C (p.Ile171Thr) c.446T>C (p.Ile149Thr) c.*124T>C (n.*124T>C) c.533T>C (p.Ile178Thr) c.467T>C (p.Ile156Thr) | ClinVar dbSNP gnomAD v4 |
| 5 | g.42699896T= | CA1542294128 | GHR | c.512T= (p.Ile171=) c.446T= (p.Ile149=) c.*124T= (n.*124T=) c.533T= (p.Ile178=) c.467T= (p.Ile156=) | dbSNP |
| 5 | g.42699896T>A | CA359695531 | GHR | c.512T>A (p.Ile171Asn) c.446T>A (p.Ile149Asn) c.*124T>A (n.*124T>A) c.533T>A (p.Ile178Asn) c.467T>A (p.Ile156Asn) | dbSNP gnomAD v4 |