| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 7 | g.117611601C>T | CA368991857 | CFTR | c.3160C>T (p.His1054Tyr) c.*2874C>T (n.*2874C>T) c.2977C>T (p.His993Tyr) c.*1460C>T (n.*1460C>T) c.*2984C>T (n.*2984C>T) c.2734C>T (p.His912Tyr) c.751C>T (p.His251Tyr) c.810C>T c.1942C>T (p.His648Tyr) c.3070C>T (p.His1024Tyr) c.3250C>T (p.His1084Tyr) c.2917C>T (p.His973Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 7 | g.117611601C>G | CA327070 | CFTR | c.3160C>G (p.His1054Asp) c.*2874C>G (n.*2874C>G) c.2977C>G (p.His993Asp) c.*1460C>G (n.*1460C>G) c.*2984C>G (n.*2984C>G) c.2734C>G (p.His912Asp) c.751C>G (p.His251Asp) c.810C>G c.1942C>G (p.His648Asp) c.3070C>G (p.His1024Asp) c.3250C>G (p.His1084Asp) c.2917C>G (p.His973Asp) | ClinVar dbSNP gnomAD v4 |
| 7 | g.117611601C= | CA1737386722 | CFTR | c.3160C= (p.His1054=) c.*2874C= (n.*2874C=) c.2977C= (p.His993=) c.*1460C= (n.*1460C=) c.*2984C= (n.*2984C=) c.2734C= (p.His912=) c.751C= (p.His251=) c.810C= c.1942C= (p.His648=) c.3070C= (p.His1024=) c.3250C= (p.His1084=) c.2917C= (p.His973=) | dbSNP |