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 |
16 | g.27362659C>A | CA395298432 | IL4R | c.1307C>A (p.Ser436Ter) c.1262C>A (p.Ser421Ter) c.230-1444C>A (n.230-1444C>A) c.*1350C>A (n.*1350C>A) c.827C>A (p.Ser276Ter) c.416C>A (p.Ser139Ter) c.356C>A (p.Ser119Ter) c.1040C>A (p.Ser347Ter) c.1010C>A (p.Ser337Ter) c.884C>A (p.Ser295Ter) c.*342C>A (n.*342C>A) | dbSNP gnomAD v4 |
16 | g.27362659C= | CA2215169599 | IL4R | c.1307C= (p.Ser436=) c.1262C= (p.Ser421=) c.230-1444C= (n.230-1444C=) c.*1350C= (n.*1350C=) c.827C= (p.Ser276=) c.416C= (p.Ser139=) c.356C= (p.Ser119=) c.1040C= (p.Ser347=) c.1010C= (p.Ser337=) c.884C= (p.Ser295=) c.*342C= (n.*342C=) | dbSNP |