| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699830C>A | CA119808 | GHR | c.446C>A (p.Pro149Gln) c.380C>A (p.Pro127Gln) c.*58C>A (n.*58C>A) c.467C>A (p.Pro156Gln) c.401C>A (p.Pro134Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.42699830C= | CA1542293935 | GHR | c.446C= (p.Pro149=) c.380C= (p.Pro127=) c.*58C= (n.*58C=) c.467C= (p.Pro156=) c.401C= (p.Pro134=) | dbSNP |