| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17843169G>T | CA404773448 | JAK3 | c.424C>A (p.Arg142Ser) n.524C>A n.514C>A n.439C>A c.553C>A (p.Arg185Ser) n.563C>A | dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.17843169G>A | CA9302164 | JAK3 | c.424C>T (p.Arg142Cys) n.524C>T n.514C>T n.439C>T c.553C>T (p.Arg185Cys) n.563C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |