| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17843451G>A | CA16608977 | JAK3 | c.349C>T (p.Arg117Cys) n.449C>T n.439C>T n.364C>T c.478C>T (p.Arg160Cys) n.488C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 19 | g.17843451G= | CA2326057659 | JAK3 | c.349C= (p.Arg117=) n.449C= n.439C= n.364C= c.478C= (p.Arg160=) n.488C= | dbSNP |