| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.27362551A>G | CA7974511 | IL4R | c.1199A>G (p.Glu400Gly) c.1154A>G (p.Glu385Gly) c.230-1552A>G (n.230-1552A>G) c.*1242A>G (n.*1242A>G) c.719A>G (p.Glu240Gly) c.308A>G (p.Glu103Gly) c.248A>G (p.Glu83Gly) c.932A>G (p.Glu311Gly) c.902A>G (p.Glu301Gly) c.776A>G (p.Glu259Gly) c.*234A>G (n.*234A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27362551A>C | CA7974510 | IL4R | c.1199A>C (p.Glu400Ala) c.1154A>C (p.Glu385Ala) c.230-1552A>C (n.230-1552A>C) c.*1242A>C (n.*1242A>C) c.719A>C (p.Glu240Ala) c.308A>C (p.Glu103Ala) c.248A>C (p.Glu83Ala) c.932A>C (p.Glu311Ala) c.902A>C (p.Glu301Ala) c.776A>C (p.Glu259Ala) c.*234A>C (n.*234A>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.27362551A>T | CA7974512 | IL4R | c.1199A>T (p.Glu400Val) c.1154A>T (p.Glu385Val) c.230-1552A>T (n.230-1552A>T) c.*1242A>T (n.*1242A>T) c.719A>T (p.Glu240Val) c.308A>T (p.Glu103Val) c.248A>T (p.Glu83Val) c.932A>T (p.Glu311Val) c.902A>T (p.Glu301Val) c.776A>T (p.Glu259Val) c.*234A>T (n.*234A>T) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |