| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42719137A>C | CA200655 | GHR | c.1630A>C (p.Ile544Leu) c.1564A>C (p.Ile522Leu) c.*1242A>C (n.*1242A>C) c.1651A>C (p.Ile551Leu) c.*672A>C (n.*672A>C) c.1585A>C (p.Ile529Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42719137A>G | CA359630656 | GHR | c.1630A>G (p.Ile544Val) c.1564A>G (p.Ile522Val) c.*1242A>G (n.*1242A>G) c.1651A>G (p.Ile551Val) c.*672A>G (n.*672A>G) c.1585A>G (p.Ile529Val) | ClinVar dbSNP gnomAD v4 |
| 5 | g.42719137A= | CA1542264859 | GHR | c.1630A= (p.Ile544=) c.1564A= (p.Ile522=) c.*1242A= (n.*1242A=) c.1651A= (p.Ile551=) c.*672A= (n.*672A=) c.1585A= (p.Ile529=) | dbSNP |