| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117610625A>G | CA325705 | CFTR | c.3095A>G (p.Tyr1032Cys) c.*2809A>G (n.*2809A>G) c.2912A>G (p.Tyr971Cys) c.*1395A>G (n.*1395A>G) c.*2919A>G (n.*2919A>G) c.2669A>G (p.Tyr890Cys) c.686A>G (p.Tyr229Cys) c.745A>G c.1877A>G (p.Tyr626Cys) c.3005A>G (p.Tyr1002Cys) c.3185A>G (p.Tyr1062Cys) c.2852A>G (p.Tyr951Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 7 | g.117610625A= | CA1737385062 | CFTR | c.3095A= (p.Tyr1032=) c.*2809A= (n.*2809A=) c.2912A= (p.Tyr971=) c.*1395A= (n.*1395A=) c.*2919A= (n.*2919A=) c.2669A= (p.Tyr890=) c.686A= (p.Tyr229=) c.745A= c.1877A= (p.Tyr626=) c.3005A= (p.Tyr1002=) c.3185A= (p.Tyr1062=) c.2852A= (p.Tyr951=) | dbSNP |