| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 19 | g.17843786T>C | CA120300 | JAK3 | c.299A>G (p.Tyr100Cys) n.399A>G n.389A>G n.324-295A>G c.428A>G (p.Tyr143Cys) n.438A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 19 | g.17843786T>G | CA404774391 | JAK3 | c.299A>C (p.Tyr100Ser) n.399A>C n.389A>C n.324-295A>C c.428A>C (p.Tyr143Ser) n.438A>C | dbSNP gnomAD v4 |
| 19 | g.17843786T= | CA2326057785 | JAK3 | c.299A= (p.Tyr100=) n.399A= n.389A= n.324-295A= c.428A= (p.Tyr143=) n.438A= | dbSNP |