| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.27362643T>C | CA7974530 | IL4R | c.1291T>C (p.Cys431Arg) c.1246T>C (p.Cys416Arg) c.230-1460T>C (n.230-1460T>C) c.*1334T>C (n.*1334T>C) c.811T>C (p.Cys271Arg) c.400T>C (p.Cys134Arg) c.340T>C (p.Cys114Arg) c.1024T>C (p.Cys342Arg) c.994T>C (p.Cys332Arg) c.868T>C (p.Cys290Arg) c.*326T>C (n.*326T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27362643T= | CA2215169569 | IL4R | c.1291T= (p.Cys431=) c.1246T= (p.Cys416=) c.230-1460T= (n.230-1460T=) c.*1334T= (n.*1334T=) c.811T= (p.Cys271=) c.400T= (p.Cys134=) c.340T= (p.Cys114=) c.1024T= (p.Cys342=) c.994T= (p.Cys332=) c.868T= (p.Cys290=) c.*326T= (n.*326T=) | dbSNP |