| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.37128579G>T | CA10216406 | IL2RB | c.1173C>A (p.Asp391Glu) c.*1165C>A (n.*1165C>A) c.1191C>A (p.Asp397Glu) c.*973C>A (n.*973C>A) c.*932C>A (n.*932C>A) c.1170C>A (p.Asp390Glu) c.1146C>A (p.Asp382Glu) c.*347C>A (n.*347C>A) c.903+3805C>A (n.903+3805C>A) n.651C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37128579G>C | CA411425092 | IL2RB | c.1173C>G (p.Asp391Glu) c.*1165C>G (n.*1165C>G) c.1191C>G (p.Asp397Glu) c.*973C>G (n.*973C>G) c.*932C>G (n.*932C>G) c.1170C>G (p.Asp390Glu) c.1146C>G (p.Asp382Glu) c.*347C>G (n.*347C>G) c.903+3805C>G (n.903+3805C>G) n.651C>G | dbSNP |
| 22 | g.37128579G>A | CA514586065 | IL2RB | c.1173C>T (p.Asp391=) c.*1165C>T (n.*1165C>T) c.1191C>T (p.Asp397=) c.*973C>T (n.*973C>T) c.*932C>T (n.*932C>T) c.1170C>T (p.Asp390=) c.1146C>T (p.Asp382=) c.*347C>T (n.*347C>T) c.903+3805C>T (n.903+3805C>T) n.651C>T | dbSNP gnomAD v4 |
| 22 | g.37128579G= | CA2404197578 | IL2RB | c.1173C= (p.Asp391=) c.*1165C= (n.*1165C=) c.1191C= (p.Asp397=) c.*973C= (n.*973C=) c.*932C= (n.*932C=) c.1170C= (p.Asp390=) c.1146C= (p.Asp382=) c.*347C= (n.*347C=) c.903+3805C= (n.903+3805C=) n.651C= | dbSNP |