| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.27362659C>T | CA7974535 | IL4R | c.1307C>T (p.Ser436Leu) c.1262C>T (p.Ser421Leu) c.230-1444C>T (n.230-1444C>T) c.*1350C>T (n.*1350C>T) c.827C>T (p.Ser276Leu) c.416C>T (p.Ser139Leu) c.356C>T (p.Ser119Leu) c.1040C>T (p.Ser347Leu) c.1010C>T (p.Ser337Leu) c.884C>T (p.Ser295Leu) c.*342C>T (n.*342C>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27362659C>G | CA395298433 | IL4R | c.1307C>G (p.Ser436Trp) c.1262C>G (p.Ser421Trp) c.230-1444C>G (n.230-1444C>G) c.*1350C>G (n.*1350C>G) c.827C>G (p.Ser276Trp) c.416C>G (p.Ser139Trp) c.356C>G (p.Ser119Trp) c.1040C>G (p.Ser347Trp) c.1010C>G (p.Ser337Trp) c.884C>G (p.Ser295Trp) c.*342C>G (n.*342C>G) | dbSNP |