| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 22 | g.37135396G>C | CA514487800 | IL2RB | c.750C>G (p.Gly250=) c.*742C>G (n.*742C>G) c.768C>G (p.Gly256=) c.*550C>G (n.*550C>G) c.*509C>G (n.*509C>G) c.747C>G (p.Gly249=) c.723C>G (p.Gly241=) n.228C>G | dbSNP |
| 22 | g.37135396G>A | CA10216529 | IL2RB | c.750C>T (p.Gly250=) c.*742C>T (n.*742C>T) c.768C>T (p.Gly256=) c.*550C>T (n.*550C>T) c.*509C>T (n.*509C>T) c.747C>T (p.Gly249=) c.723C>T (p.Gly241=) n.228C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 22 | g.37135396G>T | CA514487802 | IL2RB | c.750C>A (p.Gly250=) c.*742C>A (n.*742C>A) c.768C>A (p.Gly256=) c.*550C>A (n.*550C>A) c.*509C>A (n.*509C>A) c.747C>A (p.Gly249=) c.723C>A (p.Gly241=) n.228C>A | ClinVar dbSNP gnomAD v4 |
| 22 | g.37135396G= | CA2404200482 | IL2RB | c.750C= (p.Gly250=) c.*742C= (n.*742C=) c.768C= (p.Gly256=) c.*550C= (n.*550C=) c.*509C= (n.*509C=) c.747C= (p.Gly249=) c.723C= (p.Gly241=) n.228C= | dbSNP |