| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17843778G>C | CA404774362 | JAK3 | c.307C>G (p.Arg103Gly) n.407C>G n.397C>G n.324-287C>G c.436C>G (p.Arg146Gly) n.446C>G | dbSNP |
| 19 | g.17843778G>A | CA9302208 | JAK3 | c.307C>T (p.Arg103Cys) n.407C>T n.397C>T n.324-287C>T c.436C>T (p.Arg146Cys) n.446C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 19 | g.17843778G>T | CA306141728 | JAK3 | c.307C>A (p.Arg103Ser) n.407C>A n.397C>A n.324-287C>A c.436C>A (p.Arg146Ser) n.446C>A | dbSNP |