| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.42699868G>T | CA3254418 | GHR | c.484G>T (p.Val162Phe) c.418G>T (p.Val140Phe) c.*96G>T (n.*96G>T) c.505G>T (p.Val169Phe) c.439G>T (p.Val147Phe) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42699868G>A | CA119809 | GHR | c.484G>A (p.Val162Ile) c.418G>A (p.Val140Ile) c.*96G>A (n.*96G>A) c.505G>A (p.Val169Ile) c.439G>A (p.Val147Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.42699868G= | CA1542294024 | GHR | c.484G= (p.Val162=) c.418G= (p.Val140=) c.*96G= (n.*96G=) c.505G= (p.Val169=) c.439G= (p.Val147=) | dbSNP |