| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117603612A>G | CA325529 | CFTR | c.2738A>G (p.Tyr913Cys) c.*2452A>G (n.*2452A>G) c.2555A>G (p.Tyr852Cys) c.*1038A>G (n.*1038A>G) c.*2562A>G (n.*2562A>G) c.2312A>G (p.Tyr771Cys) c.329A>G (p.Tyr110Cys) c.388A>G c.1520A>G (p.Tyr507Cys) c.2648A>G (p.Tyr883Cys) c.2828A>G (p.Tyr943Cys) c.2495A>G (p.Tyr832Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117603612A= | CA1737374718 | CFTR | c.2738A= (p.Tyr913=) c.*2452A= (n.*2452A=) c.2555A= (p.Tyr852=) c.*1038A= (n.*1038A=) c.*2562A= (n.*2562A=) c.2312A= (p.Tyr771=) c.329A= (p.Tyr110=) c.388A= c.1520A= (p.Tyr507=) c.2648A= (p.Tyr883=) c.2828A= (p.Tyr943=) c.2495A= (p.Tyr832=) | dbSNP |