| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42694953C>A | CA119815 | GHR | c.303C>A (p.Cys101Ter) c.237C>A (p.Cys79Ter) c.173C>A (p.Ala58Asp) c.324C>A (p.Cys108Ter) c.258C>A (p.Cys86Ter) | ClinVar dbSNP |
| 5 | g.42694953C= | CA1542287772 | GHR | c.303C= (p.Cys101=) c.237C= (p.Cys79=) c.173C= (p.Ala58=) c.324C= (p.Cys108=) c.258C= (p.Cys86=) | dbSNP |
| 5 | g.42694953C>T | CA443840451 | GHR | c.303C>T (p.Cys101=) c.237C>T (p.Cys79=) c.173C>T (p.Ala58Val) c.324C>T (p.Cys108=) c.258C>T (p.Cys86=) | dbSNP gnomAD v4 |