| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.27363079A>G | CA124188 | IL4R | c.1727A>G (p.Gln576Arg) c.1682A>G (p.Gln561Arg) c.230-1024A>G (n.230-1024A>G) c.*1770A>G (n.*1770A>G) c.1247A>G (p.Gln416Arg) c.836A>G (p.Gln279Arg) c.776A>G (p.Gln259Arg) c.1460A>G (p.Gln487Arg) c.1430A>G (p.Gln477Arg) c.1304A>G (p.Gln435Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27363079A>T | CA395300297 | IL4R | c.1727A>T (p.Gln576Leu) c.1682A>T (p.Gln561Leu) c.230-1024A>T (n.230-1024A>T) c.*1770A>T (n.*1770A>T) c.1247A>T (p.Gln416Leu) c.836A>T (p.Gln279Leu) c.776A>T (p.Gln259Leu) c.1460A>T (p.Gln487Leu) c.1430A>T (p.Gln477Leu) c.1304A>T (p.Gln435Leu) | dbSNP |