| 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 |
| 16 | g.27363079A>C | CA395300293 | IL4R | c.1727A>C (p.Gln576Pro) c.1682A>C (p.Gln561Pro) c.230-1024A>C (n.230-1024A>C) c.*1770A>C (n.*1770A>C) c.1247A>C (p.Gln416Pro) c.836A>C (p.Gln279Pro) c.776A>C (p.Gln259Pro) c.1460A>C (p.Gln487Pro) c.1430A>C (p.Gln477Pro) c.1304A>C (p.Gln435Pro) | dbSNP gnomAD v4 |
| 16 | g.27363079A= | CA2215170052 | IL4R | c.1727A= (p.Gln576=) c.1682A= (p.Gln561=) c.230-1024A= (n.230-1024A=) c.*1770A= (n.*1770A=) c.1247A= (p.Gln416=) c.836A= (p.Gln279=) c.776A= (p.Gln259=) c.1460A= (p.Gln487=) c.1430A= (p.Gln477=) c.1304A= (p.Gln435=) | dbSNP |