| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.71110603T>G | CA10443884 | IL2RG | c.355A>C (p.Lys119Gln) n.406A>C n.719A>C n.761A>C n.740A>C c.-362A>C (n.-362A>C) c.24+822A>C (n.24+822A>C) c.223A>C (p.Lys75Gln) c.292A>C (p.Lys98Gln) c.319A>C (p.Lys107Gln) n.422A>C | dbSNP ExAC gnomAD v2 gnomAD v4 |
| X | g.71110603T>A | CA254974 | IL2RG | c.355A>T (p.Lys119Ter) n.406A>T n.719A>T n.761A>T n.740A>T c.-362A>T (n.-362A>T) c.24+822A>T (n.24+822A>T) c.223A>T (p.Lys75Ter) c.292A>T (p.Lys98Ter) c.319A>T (p.Lys107Ter) n.422A>T | ClinVar dbSNP |