Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117602152_117612006delCA325806CFTRc.2620-674_3367+198del
c.*2334-674_*3081+198del
c.2437-674_3184+198del
c.*920-674_*1667+198del
c.*2444-674_*3191+198del
c.2194-674_2941+198del
c.211-674_958+198del
c.270-674_1017+198del
c.1402-674_2149+198del
c.2530-674_3277+198del
c.2710-674_3457+198del
c.2377-674_3124+198del
7g.117602152_117612040delCA2499218685CFTRc.2620-674_3367+232del
c.*2334-674_*3081+232del
c.2437-674_3184+232del
c.*920-674_*1667+232del
c.*2444-674_*3191+232del
c.2194-674_2941+232del
c.211-674_958+232del
c.270-674_1017+232del
c.1402-674_2149+232del
c.2530-674_3277+232del
c.2710-674_3457+232del
c.2377-674_3124+232del
 ClinVar
7g.117603551G>ACA368986408CFTRc.2677G>A (p.Gly893Arg)
c.*2391G>A (n.*2391G>A)
c.2494G>A (p.Gly832Arg)
c.*977G>A (n.*977G>A)
c.*2501G>A (n.*2501G>A)
c.2251G>A (p.Gly751Arg)
c.268G>A (p.Gly90Arg)
c.327G>A
c.1459G>A (p.Gly487Arg)
c.2587G>A (p.Gly863Arg)
c.2767G>A (p.Gly923Arg)
c.2434G>A (p.Gly812Arg)
 ClinVar dbSNP COSMIC
7g.117603551G>CCA368986409CFTRc.2677G>C (p.Gly893Arg)
c.*2391G>C (n.*2391G>C)
c.2494G>C (p.Gly832Arg)
c.*977G>C (n.*977G>C)
c.*2501G>C (n.*2501G>C)
c.2251G>C (p.Gly751Arg)
c.268G>C (p.Gly90Arg)
c.327G>C
c.1459G>C (p.Gly487Arg)
c.2587G>C (p.Gly863Arg)
c.2767G>C (p.Gly923Arg)
c.2434G>C (p.Gly812Arg)
7g.117603551G=CA1737374458CFTRc.2677G= (p.Gly893=)
c.*2391G= (n.*2391G=)
c.2494G= (p.Gly832=)
c.*977G= (n.*977G=)
c.*2501G= (n.*2501G=)
c.2251G= (p.Gly751=)
c.268G= (p.Gly90=)
c.327G=
c.1459G= (p.Gly487=)
c.2587G= (p.Gly863=)
c.2767G= (p.Gly923=)
c.2434G= (p.Gly812=)
7g.117603551G>TCA368986410CFTRc.2677G>T (p.Gly893Trp)
c.*2391G>T (n.*2391G>T)
c.2494G>T (p.Gly832Trp)
c.*977G>T (n.*977G>T)
c.*2501G>T (n.*2501G>T)
c.2251G>T (p.Gly751Trp)
c.268G>T (p.Gly90Trp)
c.327G>T
c.1459G>T (p.Gly487Trp)
c.2587G>T (p.Gly863Trp)
c.2767G>T (p.Gly923Trp)
c.2434G>T (p.Gly812Trp)
7g.117603552G>ACA368986411CFTRc.2678G>A (p.Gly893Glu)
c.*2392G>A (n.*2392G>A)
c.2495G>A (p.Gly832Glu)
c.*978G>A (n.*978G>A)
c.*2502G>A (n.*2502G>A)
c.2252G>A (p.Gly751Glu)
c.269G>A (p.Gly90Glu)
c.328G>A
c.1460G>A (p.Gly487Glu)
c.2588G>A (p.Gly863Glu)
c.2768G>A (p.Gly923Glu)
c.2435G>A (p.Gly812Glu)
7g.117603552G>CCA368986412CFTRc.2678G>C (p.Gly893Ala)
c.*2392G>C (n.*2392G>C)
c.2495G>C (p.Gly832Ala)
c.*978G>C (n.*978G>C)
c.*2502G>C (n.*2502G>C)
c.2252G>C (p.Gly751Ala)
c.269G>C (p.Gly90Ala)
c.328G>C
c.1460G>C (p.Gly487Ala)
c.2588G>C (p.Gly863Ala)
c.2768G>C (p.Gly923Ala)
c.2435G>C (p.Gly812Ala)
7g.117603552G>TCA368986413CFTRc.2678G>T (p.Gly893Val)
c.*2392G>T (n.*2392G>T)
c.2495G>T (p.Gly832Val)
c.*978G>T (n.*978G>T)
c.*2502G>T (n.*2502G>T)
c.2252G>T (p.Gly751Val)
c.269G>T (p.Gly90Val)
c.328G>T
c.1460G>T (p.Gly487Val)
c.2588G>T (p.Gly863Val)
c.2768G>T (p.Gly923Val)
c.2435G>T (p.Gly812Val)
 COSMIC
7g.117603553G>ACA457227872CFTRc.2679G>A (p.Gly893=)
c.*2393G>A (n.*2393G>A)
c.2496G>A (p.Gly832=)
c.*979G>A (n.*979G>A)
c.*2503G>A (n.*2503G>A)
c.2253G>A (p.Gly751=)
c.270G>A (p.Gly90=)
c.329G>A
c.1461G>A (p.Gly487=)
c.2589G>A (p.Gly863=)
c.2769G>A (p.Gly923=)
c.2436G>A (p.Gly812=)
 COSMIC
7g.117603553G>CCA457227873CFTRc.2679G>C (p.Gly893=)
c.*2393G>C (n.*2393G>C)
c.2496G>C (p.Gly832=)
c.*979G>C (n.*979G>C)
c.*2503G>C (n.*2503G>C)
c.2253G>C (p.Gly751=)
c.270G>C (p.Gly90=)
c.329G>C
c.1461G>C (p.Gly487=)
c.2589G>C (p.Gly863=)
c.2769G>C (p.Gly923=)
c.2436G>C (p.Gly812=)
 gnomAD v4
7g.117603553G=CA1737374466CFTRc.2679G= (p.Gly893=)
c.*2393G= (n.*2393G=)
c.2496G= (p.Gly832=)
c.*979G= (n.*979G=)
c.*2503G= (n.*2503G=)
c.2253G= (p.Gly751=)
c.270G= (p.Gly90=)
c.329G=
c.1461G= (p.Gly487=)
c.2589G= (p.Gly863=)
c.2769G= (p.Gly923=)
c.2436G= (p.Gly812=)
7g.117603553G>TCA326886CFTRc.2679G>T (p.Gly893=)
c.*2393G>T (n.*2393G>T)
c.2496G>T (p.Gly832=)
c.*979G>T (n.*979G>T)
c.*2503G>T (n.*2503G>T)
c.2253G>T (p.Gly751=)
c.270G>T (p.Gly90=)
c.329G>T
c.1461G>T (p.Gly487=)
c.2589G>T (p.Gly863=)
c.2769G>T (p.Gly923=)
c.2436G>T (p.Gly812=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117603554A>CCA368986414CFTRc.2680A>C (p.Asn894His)
c.*2394A>C (n.*2394A>C)
c.2497A>C (p.Asn833His)
c.*980A>C (n.*980A>C)
c.*2504A>C (n.*2504A>C)
c.2254A>C (p.Asn752His)
c.271A>C (p.Asn91His)
c.330A>C
c.1462A>C (p.Asn488His)
c.2590A>C (p.Asn864His)
c.2770A>C (p.Asn924His)
c.2437A>C (p.Asn813His)
7g.117603554A>GCA368986415CFTRc.2680A>G (p.Asn894Asp)
c.*2394A>G (n.*2394A>G)
c.2497A>G (p.Asn833Asp)
c.*980A>G (n.*980A>G)
c.*2504A>G (n.*2504A>G)
c.2254A>G (p.Asn752Asp)
c.271A>G (p.Asn91Asp)
c.330A>G
c.1462A>G (p.Asn488Asp)
c.2590A>G (p.Asn864Asp)
c.2770A>G (p.Asn924Asp)
c.2437A>G (p.Asn813Asp)
7g.117603554A>TCA368986416CFTRc.2680A>T (p.Asn894Tyr)
c.*2394A>T (n.*2394A>T)
c.2497A>T (p.Asn833Tyr)
c.*980A>T (n.*980A>T)
c.*2504A>T (n.*2504A>T)
c.2254A>T (p.Asn752Tyr)
c.271A>T (p.Asn91Tyr)
c.330A>T
c.1462A>T (p.Asn488Tyr)
c.2590A>T (p.Asn864Tyr)
c.2770A>T (p.Asn924Tyr)
c.2437A>T (p.Asn813Tyr)
7g.117603555A=CA1737374475CFTRc.2681A= (p.Asn894=)
c.*2395A= (n.*2395A=)
c.2498A= (p.Asn833=)
c.*981A= (n.*981A=)
c.*2505A= (n.*2505A=)
c.2255A= (p.Asn752=)
c.272A= (p.Asn91=)
c.331A=
c.1463A= (p.Asn488=)
c.2591A= (p.Asn864=)
c.2771A= (p.Asn924=)
c.2438A= (p.Asn813=)
7g.117603555A>CCA368986419CFTRc.2681A>C (p.Asn894Thr)
c.*2395A>C (n.*2395A>C)
c.2498A>C (p.Asn833Thr)
c.*981A>C (n.*981A>C)
c.*2505A>C (n.*2505A>C)
c.2255A>C (p.Asn752Thr)
c.272A>C (p.Asn91Thr)
c.331A>C
c.1463A>C (p.Asn488Thr)
c.2591A>C (p.Asn864Thr)
c.2771A>C (p.Asn924Thr)
c.2438A>C (p.Asn813Thr)
 ClinVar dbSNP
7g.117603555A>GCA368986417CFTRc.2681A>G (p.Asn894Ser)
c.*2395A>G (n.*2395A>G)
c.2498A>G (p.Asn833Ser)
c.*981A>G (n.*981A>G)
c.*2505A>G (n.*2505A>G)
c.2255A>G (p.Asn752Ser)
c.272A>G (p.Asn91Ser)
c.331A>G
c.1463A>G (p.Asn488Ser)
c.2591A>G (p.Asn864Ser)
c.2771A>G (p.Asn924Ser)
c.2438A>G (p.Asn813Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603555A>TCA368986418CFTRc.2681A>T (p.Asn894Ile)
c.*2395A>T (n.*2395A>T)
c.2498A>T (p.Asn833Ile)
c.*981A>T (n.*981A>T)
c.*2505A>T (n.*2505A>T)
c.2255A>T (p.Asn752Ile)
c.272A>T (p.Asn91Ile)
c.331A>T
c.1463A>T (p.Asn488Ile)
c.2591A>T (p.Asn864Ile)
c.2771A>T (p.Asn924Ile)
c.2438A>T (p.Asn813Ile)
7g.117603556T>ACA368986420CFTRc.2682T>A (p.Asn894Lys)
c.*2396T>A (n.*2396T>A)
c.2499T>A (p.Asn833Lys)
c.*982T>A (n.*982T>A)
c.*2506T>A (n.*2506T>A)
c.2256T>A (p.Asn752Lys)
c.273T>A (p.Asn91Lys)
c.332T>A
c.1464T>A (p.Asn488Lys)
c.2592T>A (p.Asn864Lys)
c.2772T>A (p.Asn924Lys)
c.2439T>A (p.Asn813Lys)
7g.117603556T>CCA457227874CFTRc.2682T>C (p.Asn894=)
c.*2396T>C (n.*2396T>C)
c.2499T>C (p.Asn833=)
c.*982T>C (n.*982T>C)
c.*2506T>C (n.*2506T>C)
c.2256T>C (p.Asn752=)
c.273T>C (p.Asn91=)
c.332T>C
c.1464T>C (p.Asn488=)
c.2592T>C (p.Asn864=)
c.2772T>C (p.Asn924=)
c.2439T>C (p.Asn813=)
7g.117603556T>GCA368986421CFTRc.2682T>G (p.Asn894Lys)
c.*2396T>G (n.*2396T>G)
c.2499T>G (p.Asn833Lys)
c.*982T>G (n.*982T>G)
c.*2506T>G (n.*2506T>G)
c.2256T>G (p.Asn752Lys)
c.273T>G (p.Asn91Lys)
c.332T>G
c.1464T>G (p.Asn488Lys)
c.2592T>G (p.Asn864Lys)
c.2772T>G (p.Asn924Lys)
c.2439T>G (p.Asn813Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.117603556T=CA1737374477CFTRc.2682T= (p.Asn894=)
c.*2396T= (n.*2396T=)
c.2499T= (p.Asn833=)
c.*982T= (n.*982T=)
c.*2506T= (n.*2506T=)
c.2256T= (p.Asn752=)
c.273T= (p.Asn91=)
c.332T=
c.1464T= (p.Asn488=)
c.2592T= (p.Asn864=)
c.2772T= (p.Asn924=)
c.2439T= (p.Asn813=)
7g.117603557A=CA1737374479CFTRc.2683A= (p.Ser895=)
c.*2397A= (n.*2397A=)
c.2500A= (p.Ser834=)
c.*983A= (n.*983A=)
c.*2507A= (n.*2507A=)
c.2257A= (p.Ser753=)
c.274A= (p.Ser92=)
c.333A=
c.1465A= (p.Ser489=)
c.2593A= (p.Ser865=)
c.2773A= (p.Ser925=)
c.2440A= (p.Ser814=)
7g.117603557A>CCA368986422CFTRc.2683A>C (p.Ser895Arg)
c.*2397A>C (n.*2397A>C)
c.2500A>C (p.Ser834Arg)
c.*983A>C (n.*983A>C)
c.*2507A>C (n.*2507A>C)
c.2257A>C (p.Ser753Arg)
c.274A>C (p.Ser92Arg)
c.333A>C
c.1465A>C (p.Ser489Arg)
c.2593A>C (p.Ser865Arg)
c.2773A>C (p.Ser925Arg)
c.2440A>C (p.Ser814Arg)
 gnomAD v4
7g.117603557A>GCA368986423CFTRc.2683A>G (p.Ser895Gly)
c.*2397A>G (n.*2397A>G)
c.2500A>G (p.Ser834Gly)
c.*983A>G (n.*983A>G)
c.*2507A>G (n.*2507A>G)
c.2257A>G (p.Ser753Gly)
c.274A>G (p.Ser92Gly)
c.333A>G
c.1465A>G (p.Ser489Gly)
c.2593A>G (p.Ser865Gly)
c.2773A>G (p.Ser925Gly)
c.2440A>G (p.Ser814Gly)
 ClinVar dbSNP
7g.117603557A>TCA368986424CFTRc.2683A>T (p.Ser895Cys)
c.*2397A>T (n.*2397A>T)
c.2500A>T (p.Ser834Cys)
c.*983A>T (n.*983A>T)
c.*2507A>T (n.*2507A>T)
c.2257A>T (p.Ser753Cys)
c.274A>T (p.Ser92Cys)
c.333A>T
c.1465A>T (p.Ser489Cys)
c.2593A>T (p.Ser865Cys)
c.2773A>T (p.Ser925Cys)
c.2440A>T (p.Ser814Cys)
7g.117603558G>ACA326888CFTRc.2684G>A (p.Ser895Asn)
c.*2398G>A (n.*2398G>A)
c.2501G>A (p.Ser834Asn)
c.*984G>A (n.*984G>A)
c.*2508G>A (n.*2508G>A)
c.2258G>A (p.Ser753Asn)
c.275G>A (p.Ser92Asn)
c.334G>A
c.1466G>A (p.Ser489Asn)
c.2594G>A (p.Ser865Asn)
c.2774G>A (p.Ser925Asn)
c.2441G>A (p.Ser814Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603558G>CCA4451273CFTRc.2684G>C (p.Ser895Thr)
c.*2398G>C (n.*2398G>C)
c.2501G>C (p.Ser834Thr)
c.*984G>C (n.*984G>C)
c.*2508G>C (n.*2508G>C)
c.2258G>C (p.Ser753Thr)
c.275G>C (p.Ser92Thr)
c.334G>C
c.1466G>C (p.Ser489Thr)
c.2594G>C (p.Ser865Thr)
c.2774G>C (p.Ser925Thr)
c.2441G>C (p.Ser814Thr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603558G=CA1737374486CFTRc.2684G= (p.Ser895=)
c.*2398G= (n.*2398G=)
c.2501G= (p.Ser834=)
c.*984G= (n.*984G=)
c.*2508G= (n.*2508G=)
c.2258G= (p.Ser753=)
c.275G= (p.Ser92=)
c.334G=
c.1466G= (p.Ser489=)
c.2594G= (p.Ser865=)
c.2774G= (p.Ser925=)
c.2441G= (p.Ser814=)
7g.117603558G>TCA368986425CFTRc.2684G>T (p.Ser895Ile)
c.*2398G>T (n.*2398G>T)
c.2501G>T (p.Ser834Ile)
c.*984G>T (n.*984G>T)
c.*2508G>T (n.*2508G>T)
c.2258G>T (p.Ser753Ile)
c.275G>T (p.Ser92Ile)
c.334G>T
c.1466G>T (p.Ser489Ile)
c.2594G>T (p.Ser865Ile)
c.2774G>T (p.Ser925Ile)
c.2441G>T (p.Ser814Ile)
7g.117603559T>ACA368986426CFTRc.2685T>A (p.Ser895Arg)
c.*2399T>A (n.*2399T>A)
c.2502T>A (p.Ser834Arg)
c.*985T>A (n.*985T>A)
c.*2509T>A (n.*2509T>A)
c.2259T>A (p.Ser753Arg)
c.276T>A (p.Ser92Arg)
c.335T>A
c.1467T>A (p.Ser489Arg)
c.2595T>A (p.Ser865Arg)
c.2775T>A (p.Ser925Arg)
c.2442T>A (p.Ser814Arg)
7g.117603559T>CCA457227876CFTRc.2685T>C (p.Ser895=)
c.*2399T>C (n.*2399T>C)
c.2502T>C (p.Ser834=)
c.*985T>C (n.*985T>C)
c.*2509T>C (n.*2509T>C)
c.2259T>C (p.Ser753=)
c.276T>C (p.Ser92=)
c.335T>C
c.1467T>C (p.Ser489=)
c.2595T>C (p.Ser865=)
c.2775T>C (p.Ser925=)
c.2442T>C (p.Ser814=)
 COSMIC
7g.117603559T>GCA368986427CFTRc.2685T>G (p.Ser895Arg)
c.*2399T>G (n.*2399T>G)
c.2502T>G (p.Ser834Arg)
c.*985T>G (n.*985T>G)
c.*2509T>G (n.*2509T>G)
c.2259T>G (p.Ser753Arg)
c.276T>G (p.Ser92Arg)
c.335T>G
c.1467T>G (p.Ser489Arg)
c.2595T>G (p.Ser865Arg)
c.2775T>G (p.Ser925Arg)
c.2442T>G (p.Ser814Arg)
7g.117603560A>CCA368986430CFTRc.2686A>C (p.Thr896Pro)
c.*2400A>C (n.*2400A>C)
c.2503A>C (p.Thr835Pro)
c.*986A>C (n.*986A>C)
c.*2510A>C (n.*2510A>C)
c.2260A>C (p.Thr754Pro)
c.277A>C (p.Thr93Pro)
c.336A>C
c.1468A>C (p.Thr490Pro)
c.2596A>C (p.Thr866Pro)
c.2776A>C (p.Thr926Pro)
c.2443A>C (p.Thr815Pro)
7g.117603560A>GCA368986429CFTRc.2686A>G (p.Thr896Ala)
c.*2400A>G (n.*2400A>G)
c.2503A>G (p.Thr835Ala)
c.*986A>G (n.*986A>G)
c.*2510A>G (n.*2510A>G)
c.2260A>G (p.Thr754Ala)
c.277A>G (p.Thr93Ala)
c.336A>G
c.1468A>G (p.Thr490Ala)
c.2596A>G (p.Thr866Ala)
c.2776A>G (p.Thr926Ala)
c.2443A>G (p.Thr815Ala)
7g.117603560A>TCA368986428CFTRc.2686A>T (p.Thr896Ser)
c.*2400A>T (n.*2400A>T)
c.2503A>T (p.Thr835Ser)
c.*986A>T (n.*986A>T)
c.*2510A>T (n.*2510A>T)
c.2260A>T (p.Thr754Ser)
c.277A>T (p.Thr93Ser)
c.336A>T
c.1468A>T (p.Thr490Ser)
c.2596A>T (p.Thr866Ser)
c.2776A>T (p.Thr926Ser)
c.2443A>T (p.Thr815Ser)
7g.117603560_117603564delinsACTCACA1737374498CFTRc.2686_2690delinsACTCA (p.Thr896=)
c.*2400_*2404delinsACTCA (n.*2400_*2404delinsACTCA)
c.2503_2507delinsACTCA (p.Thr835=)
c.*986_*990delinsACTCA (n.*986_*990delinsACTCA)
c.*2510_*2514delinsACTCA (n.*2510_*2514delinsACTCA)
c.2260_2264delinsACTCA (p.Thr754=)
c.277_281delinsACTCA (p.Thr93=)
c.336_340delinsACTCA
c.1468_1472delinsACTCA (p.Thr490=)
c.2596_2600delinsACTCA (p.Thr866=)
c.2776_2780delinsACTCA (p.Thr926=)
c.2443_2447delinsACTCA (p.Thr815=)
7g.117603561delCA2579000228CFTRc.2687del (p.Thr896IlefsTer10)
c.*2401del (n.*2401del)
c.2504del (p.Thr835IlefsTer10)
c.*987del (n.*987del)
c.*2511del (n.*2511del)
c.2261del (p.Thr754IlefsTer10)
c.278del (p.Thr93IlefsTer10)
c.337del
c.1469del (p.Thr490IlefsTer10)
c.2597del (p.Thr866IlefsTer10)
c.2777del (p.Thr926IlefsTer10)
c.2444del (p.Thr815IlefsTer10)
7g.117603561C>ACA368986431CFTRc.2687C>A (p.Thr896Asn)
c.*2401C>A (n.*2401C>A)
c.2504C>A (p.Thr835Asn)
c.*987C>A (n.*987C>A)
c.*2511C>A (n.*2511C>A)
c.2261C>A (p.Thr754Asn)
c.278C>A (p.Thr93Asn)
c.337C>A
c.1469C>A (p.Thr490Asn)
c.2597C>A (p.Thr866Asn)
c.2777C>A (p.Thr926Asn)
c.2444C>A (p.Thr815Asn)
7g.117603561C=CA1737374506CFTRc.2687C= (p.Thr896=)
c.*2401C= (n.*2401C=)
c.2504C= (p.Thr835=)
c.*987C= (n.*987C=)
c.*2511C= (n.*2511C=)
c.2261C= (p.Thr754=)
c.278C= (p.Thr93=)
c.337C=
c.1469C= (p.Thr490=)
c.2597C= (p.Thr866=)
c.2777C= (p.Thr926=)
c.2444C= (p.Thr815=)
7g.117603561C>GCA368986432CFTRc.2687C>G (p.Thr896Ser)
c.*2401C>G (n.*2401C>G)
c.2504C>G (p.Thr835Ser)
c.*987C>G (n.*987C>G)
c.*2511C>G (n.*2511C>G)
c.2261C>G (p.Thr754Ser)
c.278C>G (p.Thr93Ser)
c.337C>G
c.1469C>G (p.Thr490Ser)
c.2597C>G (p.Thr866Ser)
c.2777C>G (p.Thr926Ser)
c.2444C>G (p.Thr815Ser)
7g.117603561C>TCA4451274CFTRc.2687C>T (p.Thr896Ile)
c.*2401C>T (n.*2401C>T)
c.2504C>T (p.Thr835Ile)
c.*987C>T (n.*987C>T)
c.*2511C>T (n.*2511C>T)
c.2261C>T (p.Thr754Ile)
c.278C>T (p.Thr93Ile)
c.337C>T
c.1469C>T (p.Thr490Ile)
c.2597C>T (p.Thr866Ile)
c.2777C>T (p.Thr926Ile)
c.2444C>T (p.Thr815Ile)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603561_117603564delinsTGAGTACTATGAGCA326890CFTRc.2687_2690delinsTGAGTACTATGAG (p.Thr896_His897delinsMetSerThrMetSer)
c.*2401_*2404delinsTGAGTACTATGAG (n.*2401_*2404delinsTGAGTACTATGAG)
c.2504_2507delinsTGAGTACTATGAG (p.Thr835_His836delinsMetSerThrMetSer)
c.*987_*990delinsTGAGTACTATGAG (n.*987_*990delinsTGAGTACTATGAG)
c.*2511_*2514delinsTGAGTACTATGAG (n.*2511_*2514delinsTGAGTACTATGAG)
c.2261_2264delinsTGAGTACTATGAG (p.Thr754_His755delinsMetSerThrMetSer)
c.278_281delinsTGAGTACTATGAG (p.Thr93_His94delinsMetSerThrMetSer)
c.337_340delinsTGAGTACTATGAG
c.1469_1472delinsTGAGTACTATGAG (p.Thr490_His491delinsMetSerThrMetSer)
c.2597_2600delinsTGAGTACTATGAG (p.Thr866_His867delinsMetSerThrMetSer)
c.2777_2780delinsTGAGTACTATGAG (p.Thr926_His927delinsMetSerThrMetSer)
c.2444_2447delinsTGAGTACTATGAG (p.Thr815_His816delinsMetSerThrMetSer)
 ClinVar dbSNP
7g.117603562T>ACA457227879CFTRc.2688T>A (p.Thr896=)
c.*2402T>A (n.*2402T>A)
c.2505T>A (p.Thr835=)
c.*988T>A (n.*988T>A)
c.*2512T>A (n.*2512T>A)
c.2262T>A (p.Thr754=)
c.279T>A (p.Thr93=)
c.338T>A
c.1470T>A (p.Thr490=)
c.2598T>A (p.Thr866=)
c.2778T>A (p.Thr926=)
c.2445T>A (p.Thr815=)
7g.117603562T>CCA457227880CFTRc.2688T>C (p.Thr896=)
c.*2402T>C (n.*2402T>C)
c.2505T>C (p.Thr835=)
c.*988T>C (n.*988T>C)
c.*2512T>C (n.*2512T>C)
c.2262T>C (p.Thr754=)
c.279T>C (p.Thr93=)
c.338T>C
c.1470T>C (p.Thr490=)
c.2598T>C (p.Thr866=)
c.2778T>C (p.Thr926=)
c.2445T>C (p.Thr815=)
7g.117603562T>GCA457227881CFTRc.2688T>G (p.Thr896=)
c.*2402T>G (n.*2402T>G)
c.2505T>G (p.Thr835=)
c.*988T>G (n.*988T>G)
c.*2512T>G (n.*2512T>G)
c.2262T>G (p.Thr754=)
c.279T>G (p.Thr93=)
c.338T>G
c.1470T>G (p.Thr490=)
c.2598T>G (p.Thr866=)
c.2778T>G (p.Thr926=)
c.2445T>G (p.Thr815=)
7g.117603563C>ACA368986433CFTRc.2689C>A (p.His897Asn)
c.*2403C>A (n.*2403C>A)
c.2506C>A (p.His836Asn)
c.*989C>A (n.*989C>A)
c.*2513C>A (n.*2513C>A)
c.2263C>A (p.His755Asn)
c.280C>A (p.His94Asn)
c.339C>A
c.1471C>A (p.His491Asn)
c.2599C>A (p.His867Asn)
c.2779C>A (p.His927Asn)
c.2446C>A (p.His816Asn)
7g.117603563C=CA1737374515CFTRc.2689C= (p.His897=)
c.*2403C= (n.*2403C=)
c.2506C= (p.His836=)
c.*989C= (n.*989C=)
c.*2513C= (n.*2513C=)
c.2263C= (p.His755=)
c.280C= (p.His94=)
c.339C=
c.1471C= (p.His491=)
c.2599C= (p.His867=)
c.2779C= (p.His927=)
c.2446C= (p.His816=)
7g.117603563C>GCA368986434CFTRc.2689C>G (p.His897Asp)
c.*2403C>G (n.*2403C>G)
c.2506C>G (p.His836Asp)
c.*989C>G (n.*989C>G)
c.*2513C>G (n.*2513C>G)
c.2263C>G (p.His755Asp)
c.280C>G (p.His94Asp)
c.339C>G
c.1471C>G (p.His491Asp)
c.2599C>G (p.His867Asp)
c.2779C>G (p.His927Asp)
c.2446C>G (p.His816Asp)
7g.117603563C>TCA4451275CFTRc.2689C>T (p.His897Tyr)
c.*2403C>T (n.*2403C>T)
c.2506C>T (p.His836Tyr)
c.*989C>T (n.*989C>T)
c.*2513C>T (n.*2513C>T)
c.2263C>T (p.His755Tyr)
c.280C>T (p.His94Tyr)
c.339C>T
c.1471C>T (p.His491Tyr)
c.2599C>T (p.His867Tyr)
c.2779C>T (p.His927Tyr)
c.2446C>T (p.His816Tyr)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603564A>CCA368986435CFTRc.2690A>C (p.His897Pro)
c.*2404A>C (n.*2404A>C)
c.2507A>C (p.His836Pro)
c.*990A>C (n.*990A>C)
c.*2514A>C (n.*2514A>C)
c.2264A>C (p.His755Pro)
c.281A>C (p.His94Pro)
c.340A>C
c.1472A>C (p.His491Pro)
c.2600A>C (p.His867Pro)
c.2780A>C (p.His927Pro)
c.2447A>C (p.His816Pro)
7g.117603564A>GCA368986436CFTRc.2690A>G (p.His897Arg)
c.*2404A>G (n.*2404A>G)
c.2507A>G (p.His836Arg)
c.*990A>G (n.*990A>G)
c.*2514A>G (n.*2514A>G)
c.2264A>G (p.His755Arg)
c.281A>G (p.His94Arg)
c.340A>G
c.1472A>G (p.His491Arg)
c.2600A>G (p.His867Arg)
c.2780A>G (p.His927Arg)
c.2447A>G (p.His816Arg)
 gnomAD v4
7g.117603564A>TCA368986437CFTRc.2690A>T (p.His897Leu)
c.*2404A>T (n.*2404A>T)
c.2507A>T (p.His836Leu)
c.*990A>T (n.*990A>T)
c.*2514A>T (n.*2514A>T)
c.2264A>T (p.His755Leu)
c.281A>T (p.His94Leu)
c.340A>T
c.1472A>T (p.His491Leu)
c.2600A>T (p.His867Leu)
c.2780A>T (p.His927Leu)
c.2447A>T (p.His816Leu)
7g.117603564_117603565insGTACTATGAGCA2579000229CFTRc.2690_2691insGTACTATGAG (p.His897GlnfsTer5)
c.*2404_*2405insGTACTATGAG (n.*2404_*2405insGTACTATGAG)
c.2507_2508insGTACTATGAG (p.His836GlnfsTer5)
c.*990_*991insGTACTATGAG (n.*990_*991insGTACTATGAG)
c.*2514_*2515insGTACTATGAG (n.*2514_*2515insGTACTATGAG)
c.2264_2265insGTACTATGAG (p.His755GlnfsTer5)
c.281_282insGTACTATGAG (p.His94GlnfsTer5)
c.340_341insGTACTATGAG
c.1472_1473insGTACTATGAG (p.His491GlnfsTer5)
c.2600_2601insGTACTATGAG (p.His867GlnfsTer5)
c.2780_2781insGTACTATGAG (p.His927GlnfsTer5)
c.2447_2448insGTACTATGAG (p.His816GlnfsTer5)
7g.117603565T>ACA368986438CFTRc.2691T>A (p.His897Gln)
c.*2405T>A (n.*2405T>A)
c.2508T>A (p.His836Gln)
c.*991T>A (n.*991T>A)
c.*2515T>A (n.*2515T>A)
c.2265T>A (p.His755Gln)
c.282T>A (p.His94Gln)
c.341T>A
c.1473T>A (p.His491Gln)
c.2601T>A (p.His867Gln)
c.2781T>A (p.His927Gln)
c.2448T>A (p.His816Gln)
7g.117603565T>CCA457227884CFTRc.2691T>C (p.His897=)
c.*2405T>C (n.*2405T>C)
c.2508T>C (p.His836=)
c.*991T>C (n.*991T>C)
c.*2515T>C (n.*2515T>C)
c.2265T>C (p.His755=)
c.282T>C (p.His94=)
c.341T>C
c.1473T>C (p.His491=)
c.2601T>C (p.His867=)
c.2781T>C (p.His927=)
c.2448T>C (p.His816=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603565T>GCA368986439CFTRc.2691T>G (p.His897Gln)
c.*2405T>G (n.*2405T>G)
c.2508T>G (p.His836Gln)
c.*991T>G (n.*991T>G)
c.*2515T>G (n.*2515T>G)
c.2265T>G (p.His755Gln)
c.282T>G (p.His94Gln)
c.341T>G
c.1473T>G (p.His491Gln)
c.2601T>G (p.His867Gln)
c.2781T>G (p.His927Gln)
c.2448T>G (p.His816Gln)
7g.117603565T=CA1737374520CFTRc.2691T= (p.His897=)
c.*2405T= (n.*2405T=)
c.2508T= (p.His836=)
c.*991T= (n.*991T=)
c.*2515T= (n.*2515T=)
c.2265T= (p.His755=)
c.282T= (p.His94=)
c.341T=
c.1473T= (p.His491=)
c.2601T= (p.His867=)
c.2781T= (p.His927=)
c.2448T= (p.His816=)
7g.117603566A=CA1737374525CFTRc.2692A= (p.Ser898=)
c.*2406A= (n.*2406A=)
c.2509A= (p.Ser837=)
c.*992A= (n.*992A=)
c.*2516A= (n.*2516A=)
c.2266A= (p.Ser756=)
c.283A= (p.Ser95=)
c.342A=
c.1474A= (p.Ser492=)
c.2602A= (p.Ser868=)
c.2782A= (p.Ser928=)
c.2449A= (p.Ser817=)
7g.117603566A>CCA368986442CFTRc.2692A>C (p.Ser898Arg)
c.*2406A>C (n.*2406A>C)
c.2509A>C (p.Ser837Arg)
c.*992A>C (n.*992A>C)
c.*2516A>C (n.*2516A>C)
c.2266A>C (p.Ser756Arg)
c.283A>C (p.Ser95Arg)
c.342A>C
c.1474A>C (p.Ser492Arg)
c.2602A>C (p.Ser868Arg)
c.2782A>C (p.Ser928Arg)
c.2449A>C (p.Ser817Arg)
 dbSNP gnomAD v2 gnomAD v4
7g.117603566A>GCA368986441CFTRc.2692A>G (p.Ser898Gly)
c.*2406A>G (n.*2406A>G)
c.2509A>G (p.Ser837Gly)
c.*992A>G (n.*992A>G)
c.*2516A>G (n.*2516A>G)
c.2266A>G (p.Ser756Gly)
c.283A>G (p.Ser95Gly)
c.342A>G
c.1474A>G (p.Ser492Gly)
c.2602A>G (p.Ser868Gly)
c.2782A>G (p.Ser928Gly)
c.2449A>G (p.Ser817Gly)
 ClinVar
7g.117603566A>TCA368986440CFTRc.2692A>T (p.Ser898Cys)
c.*2406A>T (n.*2406A>T)
c.2509A>T (p.Ser837Cys)
c.*992A>T (n.*992A>T)
c.*2516A>T (n.*2516A>T)
c.2266A>T (p.Ser756Cys)
c.283A>T (p.Ser95Cys)
c.342A>T
c.1474A>T (p.Ser492Cys)
c.2602A>T (p.Ser868Cys)
c.2782A>T (p.Ser928Cys)
c.2449A>T (p.Ser817Cys)
7g.117603567G>ACA368986443CFTRc.2693G>A (p.Ser898Asn)
c.*2407G>A (n.*2407G>A)
c.2510G>A (p.Ser837Asn)
c.*993G>A (n.*993G>A)
c.*2517G>A (n.*2517G>A)
c.2267G>A (p.Ser756Asn)
c.284G>A (p.Ser95Asn)
c.343G>A
c.1475G>A (p.Ser492Asn)
c.2603G>A (p.Ser868Asn)
c.2783G>A (p.Ser928Asn)
c.2450G>A (p.Ser817Asn)
 gnomAD v4
7g.117603567G>CCA368986444CFTRc.2693G>C (p.Ser898Thr)
c.*2407G>C (n.*2407G>C)
c.2510G>C (p.Ser837Thr)
c.*993G>C (n.*993G>C)
c.*2517G>C (n.*2517G>C)
c.2267G>C (p.Ser756Thr)
c.284G>C (p.Ser95Thr)
c.343G>C
c.1475G>C (p.Ser492Thr)
c.2603G>C (p.Ser868Thr)
c.2783G>C (p.Ser928Thr)
c.2450G>C (p.Ser817Thr)
7g.117603567G>TCA368986445CFTRc.2693G>T (p.Ser898Ile)
c.*2407G>T (n.*2407G>T)
c.2510G>T (p.Ser837Ile)
c.*993G>T (n.*993G>T)
c.*2517G>T (n.*2517G>T)
c.2267G>T (p.Ser756Ile)
c.284G>T (p.Ser95Ile)
c.343G>T
c.1475G>T (p.Ser492Ile)
c.2603G>T (p.Ser868Ile)
c.2783G>T (p.Ser928Ile)
c.2450G>T (p.Ser817Ile)
7g.117603568T>ACA368986446CFTRc.2694T>A (p.Ser898Arg)
c.*2408T>A (n.*2408T>A)
c.2511T>A (p.Ser837Arg)
c.*994T>A (n.*994T>A)
c.*2518T>A (n.*2518T>A)
c.2268T>A (p.Ser756Arg)
c.285T>A (p.Ser95Arg)
c.344T>A
c.1476T>A (p.Ser492Arg)
c.2604T>A (p.Ser868Arg)
c.2784T>A (p.Ser928Arg)
c.2451T>A (p.Ser817Arg)
7g.117603568T>CCA457227886CFTRc.2694T>C (p.Ser898=)
c.*2408T>C (n.*2408T>C)
c.2511T>C (p.Ser837=)
c.*994T>C (n.*994T>C)
c.*2518T>C (n.*2518T>C)
c.2268T>C (p.Ser756=)
c.285T>C (p.Ser95=)
c.344T>C
c.1476T>C (p.Ser492=)
c.2604T>C (p.Ser868=)
c.2784T>C (p.Ser928=)
c.2451T>C (p.Ser817=)
 ClinVar dbSNP gnomAD v4
7g.117603568T>GCA368986447CFTRc.2694T>G (p.Ser898Arg)
c.*2408T>G (n.*2408T>G)
c.2511T>G (p.Ser837Arg)
c.*994T>G (n.*994T>G)
c.*2518T>G (n.*2518T>G)
c.2268T>G (p.Ser756Arg)
c.285T>G (p.Ser95Arg)
c.344T>G
c.1476T>G (p.Ser492Arg)
c.2604T>G (p.Ser868Arg)
c.2784T>G (p.Ser928Arg)
c.2451T>G (p.Ser817Arg)
7g.117603569A>CCA457227921CFTRc.2695A>C (p.Arg899=)
c.*2409A>C (n.*2409A>C)
c.2512A>C (p.Arg838=)
c.*995A>C (n.*995A>C)
c.*2519A>C (n.*2519A>C)
c.2269A>C (p.Arg757=)
c.286A>C (p.Arg96=)
c.345A>C
c.1477A>C (p.Arg493=)
c.2605A>C (p.Arg869=)
c.2785A>C (p.Arg929=)
c.2452A>C (p.Arg818=)
7g.117603569A>GCA368986448CFTRc.2695A>G (p.Arg899Gly)
c.*2409A>G (n.*2409A>G)
c.2512A>G (p.Arg838Gly)
c.*995A>G (n.*995A>G)
c.*2519A>G (n.*2519A>G)
c.2269A>G (p.Arg757Gly)
c.286A>G (p.Arg96Gly)
c.345A>G
c.1477A>G (p.Arg493Gly)
c.2605A>G (p.Arg869Gly)
c.2785A>G (p.Arg929Gly)
c.2452A>G (p.Arg818Gly)
 ClinVar
7g.117603569A>TCA368986449CFTRc.2695A>T (p.Arg899Ter)
c.*2409A>T (n.*2409A>T)
c.2512A>T (p.Arg838Ter)
c.*995A>T (n.*995A>T)
c.*2519A>T (n.*2519A>T)
c.2269A>T (p.Arg757Ter)
c.286A>T (p.Arg96Ter)
c.345A>T
c.1477A>T (p.Arg493Ter)
c.2605A>T (p.Arg869Ter)
c.2785A>T (p.Arg929Ter)
c.2452A>T (p.Arg818Ter)
7g.117603570G>ACA368986450CFTRc.2696G>A (p.Arg899Lys)
c.*2410G>A (n.*2410G>A)
c.2513G>A (p.Arg838Lys)
c.*996G>A (n.*996G>A)
c.*2520G>A (n.*2520G>A)
c.2270G>A (p.Arg757Lys)
c.287G>A (p.Arg96Lys)
c.346G>A
c.1478G>A (p.Arg493Lys)
c.2606G>A (p.Arg869Lys)
c.2786G>A (p.Arg929Lys)
c.2453G>A (p.Arg818Lys)
7g.117603570G>CCA368986451CFTRc.2696G>C (p.Arg899Thr)
c.*2410G>C (n.*2410G>C)
c.2513G>C (p.Arg838Thr)
c.*996G>C (n.*996G>C)
c.*2520G>C (n.*2520G>C)
c.2270G>C (p.Arg757Thr)
c.287G>C (p.Arg96Thr)
c.346G>C
c.1478G>C (p.Arg493Thr)
c.2606G>C (p.Arg869Thr)
c.2786G>C (p.Arg929Thr)
c.2453G>C (p.Arg818Thr)
7g.117603570G>TCA368986452CFTRc.2696G>T (p.Arg899Ile)
c.*2410G>T (n.*2410G>T)
c.2513G>T (p.Arg838Ile)
c.*996G>T (n.*996G>T)
c.*2520G>T (n.*2520G>T)
c.2270G>T (p.Arg757Ile)
c.287G>T (p.Arg96Ile)
c.346G>T
c.1478G>T (p.Arg493Ile)
c.2606G>T (p.Arg869Ile)
c.2786G>T (p.Arg929Ile)
c.2453G>T (p.Arg818Ile)
7g.117603571A>CCA368986453CFTRc.2697A>C (p.Arg899Ser)
c.*2411A>C (n.*2411A>C)
c.2514A>C (p.Arg838Ser)
c.*997A>C (n.*997A>C)
c.*2521A>C (n.*2521A>C)
c.2271A>C (p.Arg757Ser)
c.288A>C (p.Arg96Ser)
c.347A>C
c.1479A>C (p.Arg493Ser)
c.2607A>C (p.Arg869Ser)
c.2787A>C (p.Arg929Ser)
c.2454A>C (p.Arg818Ser)
7g.117603571A>GCA457227922CFTRc.2697A>G (p.Arg899=)
c.*2411A>G (n.*2411A>G)
c.2514A>G (p.Arg838=)
c.*997A>G (n.*997A>G)
c.*2521A>G (n.*2521A>G)
c.2271A>G (p.Arg757=)
c.288A>G (p.Arg96=)
c.347A>G
c.1479A>G (p.Arg493=)
c.2607A>G (p.Arg869=)
c.2787A>G (p.Arg929=)
c.2454A>G (p.Arg818=)
 ClinVar dbSNP
7g.117603571A>TCA368986454CFTRc.2697A>T (p.Arg899Ser)
c.*2411A>T (n.*2411A>T)
c.2514A>T (p.Arg838Ser)
c.*997A>T (n.*997A>T)
c.*2521A>T (n.*2521A>T)
c.2271A>T (p.Arg757Ser)
c.288A>T (p.Arg96Ser)
c.347A>T
c.1479A>T (p.Arg493Ser)
c.2607A>T (p.Arg869Ser)
c.2787A>T (p.Arg929Ser)
c.2454A>T (p.Arg818Ser)
7g.117603572A>CCA368986457CFTRc.2698A>C (p.Asn900His)
c.*2412A>C (n.*2412A>C)
c.2515A>C (p.Asn839His)
c.*998A>C (n.*998A>C)
c.*2522A>C (n.*2522A>C)
c.2272A>C (p.Asn758His)
c.289A>C (p.Asn97His)
c.348A>C
c.1480A>C (p.Asn494His)
c.2608A>C (p.Asn870His)
c.2788A>C (p.Asn930His)
c.2455A>C (p.Asn819His)
7g.117603572A>GCA368986456CFTRc.2698A>G (p.Asn900Asp)
c.*2412A>G (n.*2412A>G)
c.2515A>G (p.Asn839Asp)
c.*998A>G (n.*998A>G)
c.*2522A>G (n.*2522A>G)
c.2272A>G (p.Asn758Asp)
c.289A>G (p.Asn97Asp)
c.348A>G
c.1480A>G (p.Asn494Asp)
c.2608A>G (p.Asn870Asp)
c.2788A>G (p.Asn930Asp)
c.2455A>G (p.Asn819Asp)
7g.117603572A>TCA368986455CFTRc.2698A>T (p.Asn900Tyr)
c.*2412A>T (n.*2412A>T)
c.2515A>T (p.Asn839Tyr)
c.*998A>T (n.*998A>T)
c.*2522A>T (n.*2522A>T)
c.2272A>T (p.Asn758Tyr)
c.289A>T (p.Asn97Tyr)
c.348A>T
c.1480A>T (p.Asn494Tyr)
c.2608A>T (p.Asn870Tyr)
c.2788A>T (p.Asn930Tyr)
c.2455A>T (p.Asn819Tyr)
7g.117603573A>CCA368986458CFTRc.2699A>C (p.Asn900Thr)
c.*2413A>C (n.*2413A>C)
c.2516A>C (p.Asn839Thr)
c.*999A>C (n.*999A>C)
c.*2523A>C (n.*2523A>C)
c.2273A>C (p.Asn758Thr)
c.290A>C (p.Asn97Thr)
c.349A>C
c.1481A>C (p.Asn494Thr)
c.2609A>C (p.Asn870Thr)
c.2789A>C (p.Asn930Thr)
c.2456A>C (p.Asn819Thr)
7g.117603573A>GCA368986460CFTRc.2699A>G (p.Asn900Ser)
c.*2413A>G (n.*2413A>G)
c.2516A>G (p.Asn839Ser)
c.*999A>G (n.*999A>G)
c.*2523A>G (n.*2523A>G)
c.2273A>G (p.Asn758Ser)
c.290A>G (p.Asn97Ser)
c.349A>G
c.1481A>G (p.Asn494Ser)
c.2609A>G (p.Asn870Ser)
c.2789A>G (p.Asn930Ser)
c.2456A>G (p.Asn819Ser)
7g.117603573A>TCA368986459CFTRc.2699A>T (p.Asn900Ile)
c.*2413A>T (n.*2413A>T)
c.2516A>T (p.Asn839Ile)
c.*999A>T (n.*999A>T)
c.*2523A>T (n.*2523A>T)
c.2273A>T (p.Asn758Ile)
c.290A>T (p.Asn97Ile)
c.349A>T
c.1481A>T (p.Asn494Ile)
c.2609A>T (p.Asn870Ile)
c.2789A>T (p.Asn930Ile)
c.2456A>T (p.Asn819Ile)
7g.117603574T>ACA273030CFTRc.2700T>A (p.Asn900Lys)
c.*2414T>A (n.*2414T>A)
c.2517T>A (p.Asn839Lys)
c.*1000T>A (n.*1000T>A)
c.*2524T>A (n.*2524T>A)
c.2274T>A (p.Asn758Lys)
c.291T>A (p.Asn97Lys)
c.350T>A
c.1482T>A (p.Asn494Lys)
c.2610T>A (p.Asn870Lys)
c.2790T>A (p.Asn930Lys)
c.2457T>A (p.Asn819Lys)
 ClinVar dbSNP gnomAD v4
7g.117603574T>CCA164959969CFTRc.2700T>C (p.Asn900=)
c.*2414T>C (n.*2414T>C)
c.2517T>C (p.Asn839=)
c.*1000T>C (n.*1000T>C)
c.*2524T>C (n.*2524T>C)
c.2274T>C (p.Asn758=)
c.291T>C (p.Asn97=)
c.350T>C
c.1482T>C (p.Asn494=)
c.2610T>C (p.Asn870=)
c.2790T>C (p.Asn930=)
c.2457T>C (p.Asn819=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603574T>GCA368986461CFTRc.2700T>G (p.Asn900Lys)
c.*2414T>G (n.*2414T>G)
c.2517T>G (p.Asn839Lys)
c.*1000T>G (n.*1000T>G)
c.*2524T>G (n.*2524T>G)
c.2274T>G (p.Asn758Lys)
c.291T>G (p.Asn97Lys)
c.350T>G
c.1482T>G (p.Asn494Lys)
c.2610T>G (p.Asn870Lys)
c.2790T>G (p.Asn930Lys)
c.2457T>G (p.Asn819Lys)
7g.117603574T=CA1737374534CFTRc.2700T= (p.Asn900=)
c.*2414T= (n.*2414T=)
c.2517T= (p.Asn839=)
c.*1000T= (n.*1000T=)
c.*2524T= (n.*2524T=)
c.2274T= (p.Asn758=)
c.291T= (p.Asn97=)
c.350T=
c.1482T= (p.Asn494=)
c.2610T= (p.Asn870=)
c.2790T= (p.Asn930=)
c.2457T= (p.Asn819=)
7g.117603575A>CCA368986462CFTRc.2701A>C (p.Asn901His)
c.*2415A>C (n.*2415A>C)
c.2518A>C (p.Asn840His)
c.*1001A>C (n.*1001A>C)
c.*2525A>C (n.*2525A>C)
c.2275A>C (p.Asn759His)
c.292A>C (p.Asn98His)
c.351A>C
c.1483A>C (p.Asn495His)
c.2611A>C (p.Asn871His)
c.2791A>C (p.Asn931His)
c.2458A>C (p.Asn820His)
7g.117603575A>GCA368986463CFTRc.2701A>G (p.Asn901Asp)
c.*2415A>G (n.*2415A>G)
c.2518A>G (p.Asn840Asp)
c.*1001A>G (n.*1001A>G)
c.*2525A>G (n.*2525A>G)
c.2275A>G (p.Asn759Asp)
c.292A>G (p.Asn98Asp)
c.351A>G
c.1483A>G (p.Asn495Asp)
c.2611A>G (p.Asn871Asp)
c.2791A>G (p.Asn931Asp)
c.2458A>G (p.Asn820Asp)
 gnomAD v4
7g.117603575A>TCA368986464CFTRc.2701A>T (p.Asn901Tyr)
c.*2415A>T (n.*2415A>T)
c.2518A>T (p.Asn840Tyr)
c.*1001A>T (n.*1001A>T)
c.*2525A>T (n.*2525A>T)
c.2275A>T (p.Asn759Tyr)
c.292A>T (p.Asn98Tyr)
c.351A>T
c.1483A>T (p.Asn495Tyr)
c.2611A>T (p.Asn871Tyr)
c.2791A>T (p.Asn931Tyr)
c.2458A>T (p.Asn820Tyr)
7g.117603576A=CA1737374542CFTRc.2702A= (p.Asn901=)
c.*2416A= (n.*2416A=)
c.2519A= (p.Asn840=)
c.*1002A= (n.*1002A=)
c.*2526A= (n.*2526A=)
c.2276A= (p.Asn759=)
c.293A= (p.Asn98=)
c.352A=
c.1484A= (p.Asn495=)
c.2612A= (p.Asn871=)
c.2792A= (p.Asn931=)
c.2459A= (p.Asn820=)
7g.117603576A>CCA368986465CFTRc.2702A>C (p.Asn901Thr)
c.*2416A>C (n.*2416A>C)
c.2519A>C (p.Asn840Thr)
c.*1002A>C (n.*1002A>C)
c.*2526A>C (n.*2526A>C)
c.2276A>C (p.Asn759Thr)
c.293A>C (p.Asn98Thr)
c.352A>C
c.1484A>C (p.Asn495Thr)
c.2612A>C (p.Asn871Thr)
c.2792A>C (p.Asn931Thr)
c.2459A>C (p.Asn820Thr)
7g.117603576A>GCA368986466CFTRc.2702A>G (p.Asn901Ser)
c.*2416A>G (n.*2416A>G)
c.2519A>G (p.Asn840Ser)
c.*1002A>G (n.*1002A>G)
c.*2526A>G (n.*2526A>G)
c.2276A>G (p.Asn759Ser)
c.293A>G (p.Asn98Ser)
c.352A>G
c.1484A>G (p.Asn495Ser)
c.2612A>G (p.Asn871Ser)
c.2792A>G (p.Asn931Ser)
c.2459A>G (p.Asn820Ser)
7g.117603576A>TCA368986467CFTRc.2702A>T (p.Asn901Ile)
c.*2416A>T (n.*2416A>T)
c.2519A>T (p.Asn840Ile)
c.*1002A>T (n.*1002A>T)
c.*2526A>T (n.*2526A>T)
c.2276A>T (p.Asn759Ile)
c.293A>T (p.Asn98Ile)
c.352A>T
c.1484A>T (p.Asn495Ile)
c.2612A>T (p.Asn871Ile)
c.2792A>T (p.Asn931Ile)
c.2459A>T (p.Asn820Ile)
 ClinVar dbSNP gnomAD v2
7g.117603577C>ACA368986468CFTRc.2703C>A (p.Asn901Lys)
c.*2417C>A (n.*2417C>A)
c.2520C>A (p.Asn840Lys)
c.*1003C>A (n.*1003C>A)
c.*2527C>A (n.*2527C>A)
c.2277C>A (p.Asn759Lys)
c.294C>A (p.Asn98Lys)
c.353C>A
c.1485C>A (p.Asn495Lys)
c.2613C>A (p.Asn871Lys)
c.2793C>A (p.Asn931Lys)
c.2460C>A (p.Asn820Lys)
7g.117603577C=CA1737374555CFTRc.2703C= (p.Asn901=)
c.*2417C= (n.*2417C=)
c.2520C= (p.Asn840=)
c.*1003C= (n.*1003C=)
c.*2527C= (n.*2527C=)
c.2277C= (p.Asn759=)
c.294C= (p.Asn98=)
c.353C=
c.1485C= (p.Asn495=)
c.2613C= (p.Asn871=)
c.2793C= (p.Asn931=)
c.2460C= (p.Asn820=)
7g.117603577C>GCA368986469CFTRc.2703C>G (p.Asn901Lys)
c.*2417C>G (n.*2417C>G)
c.2520C>G (p.Asn840Lys)
c.*1003C>G (n.*1003C>G)
c.*2527C>G (n.*2527C>G)
c.2277C>G (p.Asn759Lys)
c.294C>G (p.Asn98Lys)
c.353C>G
c.1485C>G (p.Asn495Lys)
c.2613C>G (p.Asn871Lys)
c.2793C>G (p.Asn931Lys)
c.2460C>G (p.Asn820Lys)
7g.117603577C>TCA4451276CFTRc.2703C>T (p.Asn901=)
c.*2417C>T (n.*2417C>T)
c.2520C>T (p.Asn840=)
c.*1003C>T (n.*1003C>T)
c.*2527C>T (n.*2527C>T)
c.2277C>T (p.Asn759=)
c.294C>T (p.Asn98=)
c.353C>T
c.1485C>T (p.Asn495=)
c.2613C>T (p.Asn871=)
c.2793C>T (p.Asn931=)
c.2460C>T (p.Asn820=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117603578A>CCA368986470CFTRc.2704A>C (p.Ser902Arg)
c.*2418A>C (n.*2418A>C)
c.2521A>C (p.Ser841Arg)
c.*1004A>C (n.*1004A>C)
c.*2528A>C (n.*2528A>C)
c.2278A>C (p.Ser760Arg)
c.295A>C (p.Ser99Arg)
c.354A>C
c.1486A>C (p.Ser496Arg)
c.2614A>C (p.Ser872Arg)
c.2794A>C (p.Ser932Arg)
c.2461A>C (p.Ser821Arg)
7g.117603578A>GCA368986471CFTRc.2704A>G (p.Ser902Gly)
c.*2418A>G (n.*2418A>G)
c.2521A>G (p.Ser841Gly)
c.*1004A>G (n.*1004A>G)
c.*2528A>G (n.*2528A>G)
c.2278A>G (p.Ser760Gly)
c.295A>G (p.Ser99Gly)
c.354A>G
c.1486A>G (p.Ser496Gly)
c.2614A>G (p.Ser872Gly)
c.2794A>G (p.Ser932Gly)
c.2461A>G (p.Ser821Gly)
7g.117603578A>TCA368986472CFTRc.2704A>T (p.Ser902Cys)
c.*2418A>T (n.*2418A>T)
c.2521A>T (p.Ser841Cys)
c.*1004A>T (n.*1004A>T)
c.*2528A>T (n.*2528A>T)
c.2278A>T (p.Ser760Cys)
c.295A>T (p.Ser99Cys)
c.354A>T
c.1486A>T (p.Ser496Cys)
c.2614A>T (p.Ser872Cys)
c.2794A>T (p.Ser932Cys)
c.2461A>T (p.Ser821Cys)
7g.117603579delCA2580076329CFTRc.2705del (p.Ser902ThrfsTer4)
c.*2419del (n.*2419del)
c.2522del (p.Ser841ThrfsTer4)
c.*1005del (n.*1005del)
c.*2529del (n.*2529del)
c.2279del (p.Ser760ThrfsTer4)
c.296del (p.Ser99ThrfsTer4)
c.355del
c.1487del (p.Ser496ThrfsTer4)
c.2615del (p.Ser872ThrfsTer4)
c.2795del (p.Ser932ThrfsTer4)
c.2462del (p.Ser821ThrfsTer4)
 ClinVar
7g.117603579G>ACA368986475CFTRc.2705G>A (p.Ser902Asn)
c.*2419G>A (n.*2419G>A)
c.2522G>A (p.Ser841Asn)
c.*1005G>A (n.*1005G>A)
c.*2529G>A (n.*2529G>A)
c.2279G>A (p.Ser760Asn)
c.296G>A (p.Ser99Asn)
c.355G>A
c.1487G>A (p.Ser496Asn)
c.2615G>A (p.Ser872Asn)
c.2795G>A (p.Ser932Asn)
c.2462G>A (p.Ser821Asn)
7g.117603579G>CCA368986474CFTRc.2705G>C (p.Ser902Thr)
c.*2419G>C (n.*2419G>C)
c.2522G>C (p.Ser841Thr)
c.*1005G>C (n.*1005G>C)
c.*2529G>C (n.*2529G>C)
c.2279G>C (p.Ser760Thr)
c.296G>C (p.Ser99Thr)
c.355G>C
c.1487G>C (p.Ser496Thr)
c.2615G>C (p.Ser872Thr)
c.2795G>C (p.Ser932Thr)
c.2462G>C (p.Ser821Thr)
 ClinVar dbSNP
7g.117603579G>TCA368986473CFTRc.2705G>T (p.Ser902Ile)
c.*2419G>T (n.*2419G>T)
c.2522G>T (p.Ser841Ile)
c.*1005G>T (n.*1005G>T)
c.*2529G>T (n.*2529G>T)
c.2279G>T (p.Ser760Ile)
c.296G>T (p.Ser99Ile)
c.355G>T
c.1487G>T (p.Ser496Ile)
c.2615G>T (p.Ser872Ile)
c.2795G>T (p.Ser932Ile)
c.2462G>T (p.Ser821Ile)
7g.117603580C>ACA368986476CFTRc.2706C>A (p.Ser902Arg)
c.*2420C>A (n.*2420C>A)
c.2523C>A (p.Ser841Arg)
c.*1006C>A (n.*1006C>A)
c.*2530C>A (n.*2530C>A)
c.2280C>A (p.Ser760Arg)
c.297C>A (p.Ser99Arg)
c.356C>A
c.1488C>A (p.Ser496Arg)
c.2616C>A (p.Ser872Arg)
c.2796C>A (p.Ser932Arg)
c.2463C>A (p.Ser821Arg)
7g.117603580C=CA1737374563CFTRc.2706C= (p.Ser902=)
c.*2420C= (n.*2420C=)
c.2523C= (p.Ser841=)
c.*1006C= (n.*1006C=)
c.*2530C= (n.*2530C=)
c.2280C= (p.Ser760=)
c.297C= (p.Ser99=)
c.356C=
c.1488C= (p.Ser496=)
c.2616C= (p.Ser872=)
c.2796C= (p.Ser932=)
c.2463C= (p.Ser821=)
7g.117603580C>GCA326894CFTRc.2706C>G (p.Ser902Arg)
c.*2420C>G (n.*2420C>G)
c.2523C>G (p.Ser841Arg)
c.*1006C>G (n.*1006C>G)
c.*2530C>G (n.*2530C>G)
c.2280C>G (p.Ser760Arg)
c.297C>G (p.Ser99Arg)
c.356C>G
c.1488C>G (p.Ser496Arg)
c.2616C>G (p.Ser872Arg)
c.2796C>G (p.Ser932Arg)
c.2463C>G (p.Ser821Arg)
 ClinVar dbSNP
7g.117603580C>TCA457227923CFTRc.2706C>T (p.Ser902=)
c.*2420C>T (n.*2420C>T)
c.2523C>T (p.Ser841=)
c.*1006C>T (n.*1006C>T)
c.*2530C>T (n.*2530C>T)
c.2280C>T (p.Ser760=)
c.297C>T (p.Ser99=)
c.356C>T
c.1488C>T (p.Ser496=)
c.2616C>T (p.Ser872=)
c.2796C>T (p.Ser932=)
c.2463C>T (p.Ser821=)
 ClinVar gnomAD v4
7g.117603581T>ACA368986477CFTRc.2707T>A (p.Tyr903Asn)
c.*2421T>A (n.*2421T>A)
c.2524T>A (p.Tyr842Asn)
c.*1007T>A (n.*1007T>A)
c.*2531T>A (n.*2531T>A)
c.2281T>A (p.Tyr761Asn)
c.298T>A (p.Tyr100Asn)
c.357T>A
c.1489T>A (p.Tyr497Asn)
c.2617T>A (p.Tyr873Asn)
c.2797T>A (p.Tyr933Asn)
c.2464T>A (p.Tyr822Asn)
7g.117603581T>CCA164959996CFTRc.2707T>C (p.Tyr903His)
c.*2421T>C (n.*2421T>C)
c.2524T>C (p.Tyr842His)
c.*1007T>C (n.*1007T>C)
c.*2531T>C (n.*2531T>C)
c.2281T>C (p.Tyr761His)
c.298T>C (p.Tyr100His)
c.357T>C
c.1489T>C (p.Tyr497His)
c.2617T>C (p.Tyr873His)
c.2797T>C (p.Tyr933His)
c.2464T>C (p.Tyr822His)
 dbSNP
7g.117603581T>GCA368986478CFTRc.2707T>G (p.Tyr903Asp)
c.*2421T>G (n.*2421T>G)
c.2524T>G (p.Tyr842Asp)
c.*1007T>G (n.*1007T>G)
c.*2531T>G (n.*2531T>G)
c.2281T>G (p.Tyr761Asp)
c.298T>G (p.Tyr100Asp)
c.357T>G
c.1489T>G (p.Tyr497Asp)
c.2617T>G (p.Tyr873Asp)
c.2797T>G (p.Tyr933Asp)
c.2464T>G (p.Tyr822Asp)
7g.117603581T=CA1737374573CFTRc.2707T= (p.Tyr903=)
c.*2421T= (n.*2421T=)
c.2524T= (p.Tyr842=)
c.*1007T= (n.*1007T=)
c.*2531T= (n.*2531T=)
c.2281T= (p.Tyr761=)
c.298T= (p.Tyr100=)
c.357T=
c.1489T= (p.Tyr497=)
c.2617T= (p.Tyr873=)
c.2797T= (p.Tyr933=)
c.2464T= (p.Tyr822=)
7g.117603582A=CA1737374582CFTRc.2708A= (p.Tyr903=)
c.*2422A= (n.*2422A=)
c.2525A= (p.Tyr842=)
c.*1008A= (n.*1008A=)
c.*2532A= (n.*2532A=)
c.2282A= (p.Tyr761=)
c.299A= (p.Tyr100=)
c.358A=
c.1490A= (p.Tyr497=)
c.2618A= (p.Tyr873=)
c.2798A= (p.Tyr933=)
c.2465A= (p.Tyr822=)
7g.117603582A>CCA368986479CFTRc.2708A>C (p.Tyr903Ser)
c.*2422A>C (n.*2422A>C)
c.2525A>C (p.Tyr842Ser)
c.*1008A>C (n.*1008A>C)
c.*2532A>C (n.*2532A>C)
c.2282A>C (p.Tyr761Ser)
c.299A>C (p.Tyr100Ser)
c.358A>C
c.1490A>C (p.Tyr497Ser)
c.2618A>C (p.Tyr873Ser)
c.2798A>C (p.Tyr933Ser)
c.2465A>C (p.Tyr822Ser)
7g.117603582A>GCA4451277CFTRc.2708A>G (p.Tyr903Cys)
c.*2422A>G (n.*2422A>G)
c.2525A>G (p.Tyr842Cys)
c.*1008A>G (n.*1008A>G)
c.*2532A>G (n.*2532A>G)
c.2282A>G (p.Tyr761Cys)
c.299A>G (p.Tyr100Cys)
c.358A>G
c.1490A>G (p.Tyr497Cys)
c.2618A>G (p.Tyr873Cys)
c.2798A>G (p.Tyr933Cys)
c.2465A>G (p.Tyr822Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603582A>TCA368986480CFTRc.2708A>T (p.Tyr903Phe)
c.*2422A>T (n.*2422A>T)
c.2525A>T (p.Tyr842Phe)
c.*1008A>T (n.*1008A>T)
c.*2532A>T (n.*2532A>T)
c.2282A>T (p.Tyr761Phe)
c.299A>T (p.Tyr100Phe)
c.358A>T
c.1490A>T (p.Tyr497Phe)
c.2618A>T (p.Tyr873Phe)
c.2798A>T (p.Tyr933Phe)
c.2465A>T (p.Tyr822Phe)
 gnomAD v4
7g.117603582_117603583delinsATCA1737374585CFTRc.2708_2709delinsAT (p.Tyr903=)
c.*2422_*2423delinsAT (n.*2422_*2423delinsAT)
c.2525_2526delinsAT (p.Tyr842=)
c.*1008_*1009delinsAT (n.*1008_*1009delinsAT)
c.*2532_*2533delinsAT (n.*2532_*2533delinsAT)
c.2282_2283delinsAT (p.Tyr761=)
c.299_300delinsAT (p.Tyr100=)
c.358_359delinsAT
c.1490_1491delinsAT (p.Tyr497=)
c.2618_2619delinsAT (p.Tyr873=)
c.2798_2799delinsAT (p.Tyr933=)
c.2465_2466delinsAT (p.Tyr822=)
7g.117603583delCA1737374587CFTRc.2709del (p.Tyr903Ter)
c.*2423del (n.*2423del)
c.2526del (p.Tyr842Ter)
c.*1009del (n.*1009del)
c.*2533del (n.*2533del)
c.2283del (p.Tyr761Ter)
c.300del (p.Tyr100Ter)
c.359del
c.1491del (p.Tyr497Ter)
c.2619del (p.Tyr873Ter)
c.2799del (p.Tyr933Ter)
c.2466del (p.Tyr822Ter)
 dbSNP
7g.117603583T>ACA368986481CFTRc.2709T>A (p.Tyr903Ter)
c.*2423T>A (n.*2423T>A)
c.2526T>A (p.Tyr842Ter)
c.*1009T>A (n.*1009T>A)
c.*2533T>A (n.*2533T>A)
c.2283T>A (p.Tyr761Ter)
c.300T>A (p.Tyr100Ter)
c.359T>A
c.1491T>A (p.Tyr497Ter)
c.2619T>A (p.Tyr873Ter)
c.2799T>A (p.Tyr933Ter)
c.2466T>A (p.Tyr822Ter)
7g.117603583T>CCA457227924CFTRc.2709T>C (p.Tyr903=)
c.*2423T>C (n.*2423T>C)
c.2526T>C (p.Tyr842=)
c.*1009T>C (n.*1009T>C)
c.*2533T>C (n.*2533T>C)
c.2283T>C (p.Tyr761=)
c.300T>C (p.Tyr100=)
c.359T>C
c.1491T>C (p.Tyr497=)
c.2619T>C (p.Tyr873=)
c.2799T>C (p.Tyr933=)
c.2466T>C (p.Tyr822=)
 ClinVar
7g.117603583T>GCA368986482CFTRc.2709T>G (p.Tyr903Ter)
c.*2423T>G (n.*2423T>G)
c.2526T>G (p.Tyr842Ter)
c.*1009T>G (n.*1009T>G)
c.*2533T>G (n.*2533T>G)
c.2283T>G (p.Tyr761Ter)
c.300T>G (p.Tyr100Ter)
c.359T>G
c.1491T>G (p.Tyr497Ter)
c.2619T>G (p.Tyr873Ter)
c.2799T>G (p.Tyr933Ter)
c.2466T>G (p.Tyr822Ter)
7g.117603584G>ACA368986483CFTRc.2710G>A (p.Ala904Thr)
c.*2424G>A (n.*2424G>A)
c.2527G>A (p.Ala843Thr)
c.*1010G>A (n.*1010G>A)
c.*2534G>A (n.*2534G>A)
c.2284G>A (p.Ala762Thr)
c.301G>A (p.Ala101Thr)
c.360G>A
c.1492G>A (p.Ala498Thr)
c.2620G>A (p.Ala874Thr)
c.2800G>A (p.Ala934Thr)
c.2467G>A (p.Ala823Thr)
7g.117603584G>CCA368986484CFTRc.2710G>C (p.Ala904Pro)
c.*2424G>C (n.*2424G>C)
c.2527G>C (p.Ala843Pro)
c.*1010G>C (n.*1010G>C)
c.*2534G>C (n.*2534G>C)
c.2284G>C (p.Ala762Pro)
c.301G>C (p.Ala101Pro)
c.360G>C
c.1492G>C (p.Ala498Pro)
c.2620G>C (p.Ala874Pro)
c.2800G>C (p.Ala934Pro)
c.2467G>C (p.Ala823Pro)
7g.117603584G>TCA368986485CFTRc.2710G>T (p.Ala904Ser)
c.*2424G>T (n.*2424G>T)
c.2527G>T (p.Ala843Ser)
c.*1010G>T (n.*1010G>T)
c.*2534G>T (n.*2534G>T)
c.2284G>T (p.Ala762Ser)
c.301G>T (p.Ala101Ser)
c.360G>T
c.1492G>T (p.Ala498Ser)
c.2620G>T (p.Ala874Ser)
c.2800G>T (p.Ala934Ser)
c.2467G>T (p.Ala823Ser)
7g.117603585C>ACA368986487CFTRc.2711C>A (p.Ala904Glu)
c.*2425C>A (n.*2425C>A)
c.2528C>A (p.Ala843Glu)
c.*1011C>A (n.*1011C>A)
c.*2535C>A (n.*2535C>A)
c.2285C>A (p.Ala762Glu)
c.302C>A (p.Ala101Glu)
c.361C>A
c.1493C>A (p.Ala498Glu)
c.2621C>A (p.Ala874Glu)
c.2801C>A (p.Ala934Glu)
c.2468C>A (p.Ala823Glu)
7g.117603585C=CA1737374590CFTRc.2711C= (p.Ala904=)
c.*2425C= (n.*2425C=)
c.2528C= (p.Ala843=)
c.*1011C= (n.*1011C=)
c.*2535C= (n.*2535C=)
c.2285C= (p.Ala762=)
c.302C= (p.Ala101=)
c.361C=
c.1493C= (p.Ala498=)
c.2621C= (p.Ala874=)
c.2801C= (p.Ala934=)
c.2468C= (p.Ala823=)
7g.117603585C>GCA368986488CFTRc.2711C>G (p.Ala904Gly)
c.*2425C>G (n.*2425C>G)
c.2528C>G (p.Ala843Gly)
c.*1011C>G (n.*1011C>G)
c.*2535C>G (n.*2535C>G)
c.2285C>G (p.Ala762Gly)
c.302C>G (p.Ala101Gly)
c.361C>G
c.1493C>G (p.Ala498Gly)
c.2621C>G (p.Ala874Gly)
c.2801C>G (p.Ala934Gly)
c.2468C>G (p.Ala823Gly)
7g.117603585C>TCA368986486CFTRc.2711C>T (p.Ala904Val)
c.*2425C>T (n.*2425C>T)
c.2528C>T (p.Ala843Val)
c.*1011C>T (n.*1011C>T)
c.*2535C>T (n.*2535C>T)
c.2285C>T (p.Ala762Val)
c.302C>T (p.Ala101Val)
c.361C>T
c.1493C>T (p.Ala498Val)
c.2621C>T (p.Ala874Val)
c.2801C>T (p.Ala934Val)
c.2468C>T (p.Ala823Val)
 dbSNP gnomAD v3 gnomAD v4
7g.117603586A>CCA457227925CFTRc.2712A>C (p.Ala904=)
c.*2426A>C (n.*2426A>C)
c.2529A>C (p.Ala843=)
c.*1012A>C (n.*1012A>C)
c.*2536A>C (n.*2536A>C)
c.2286A>C (p.Ala762=)
c.303A>C (p.Ala101=)
c.362A>C
c.1494A>C (p.Ala498=)
c.2622A>C (p.Ala874=)
c.2802A>C (p.Ala934=)
c.2469A>C (p.Ala823=)
7g.117603586A>GCA457227926CFTRc.2712A>G (p.Ala904=)
c.*2426A>G (n.*2426A>G)
c.2529A>G (p.Ala843=)
c.*1012A>G (n.*1012A>G)
c.*2536A>G (n.*2536A>G)
c.2286A>G (p.Ala762=)
c.303A>G (p.Ala101=)
c.362A>G
c.1494A>G (p.Ala498=)
c.2622A>G (p.Ala874=)
c.2802A>G (p.Ala934=)
c.2469A>G (p.Ala823=)
7g.117603586A>TCA457227927CFTRc.2712A>T (p.Ala904=)
c.*2426A>T (n.*2426A>T)
c.2529A>T (p.Ala843=)
c.*1012A>T (n.*1012A>T)
c.*2536A>T (n.*2536A>T)
c.2286A>T (p.Ala762=)
c.303A>T (p.Ala101=)
c.362A>T
c.1494A>T (p.Ala498=)
c.2622A>T (p.Ala874=)
c.2802A>T (p.Ala934=)
c.2469A>T (p.Ala823=)
7g.117603587G>ACA368986489CFTRc.2713G>A (p.Val905Met)
c.*2427G>A (n.*2427G>A)
c.2530G>A (p.Val844Met)
c.*1013G>A (n.*1013G>A)
c.*2537G>A (n.*2537G>A)
c.2287G>A (p.Val763Met)
c.304G>A (p.Val102Met)
c.363G>A
c.1495G>A (p.Val499Met)
c.2623G>A (p.Val875Met)
c.2803G>A (p.Val935Met)
c.2470G>A (p.Val824Met)
7g.117603587G>CCA164960001CFTRc.2713G>C (p.Val905Leu)
c.*2427G>C (n.*2427G>C)
c.2530G>C (p.Val844Leu)
c.*1013G>C (n.*1013G>C)
c.*2537G>C (n.*2537G>C)
c.2287G>C (p.Val763Leu)
c.304G>C (p.Val102Leu)
c.363G>C
c.1495G>C (p.Val499Leu)
c.2623G>C (p.Val875Leu)
c.2803G>C (p.Val935Leu)
c.2470G>C (p.Val824Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603587G=CA1737374594CFTRc.2713G= (p.Val905=)
c.*2427G= (n.*2427G=)
c.2530G= (p.Val844=)
c.*1013G= (n.*1013G=)
c.*2537G= (n.*2537G=)
c.2287G= (p.Val763=)
c.304G= (p.Val102=)
c.363G=
c.1495G= (p.Val499=)
c.2623G= (p.Val875=)
c.2803G= (p.Val935=)
c.2470G= (p.Val824=)
7g.117603587G>TCA368986490CFTRc.2713G>T (p.Val905Leu)
c.*2427G>T (n.*2427G>T)
c.2530G>T (p.Val844Leu)
c.*1013G>T (n.*1013G>T)
c.*2537G>T (n.*2537G>T)
c.2287G>T (p.Val763Leu)
c.304G>T (p.Val102Leu)
c.363G>T
c.1495G>T (p.Val499Leu)
c.2623G>T (p.Val875Leu)
c.2803G>T (p.Val935Leu)
c.2470G>T (p.Val824Leu)
7g.117603588T>ACA368986491CFTRc.2714T>A (p.Val905Glu)
c.*2428T>A (n.*2428T>A)
c.2531T>A (p.Val844Glu)
c.*1014T>A (n.*1014T>A)
c.*2538T>A (n.*2538T>A)
c.2288T>A (p.Val763Glu)
c.305T>A (p.Val102Glu)
c.364T>A
c.1496T>A (p.Val499Glu)
c.2624T>A (p.Val875Glu)
c.2804T>A (p.Val935Glu)
c.2471T>A (p.Val824Glu)
7g.117603588T>CCA368986492CFTRc.2714T>C (p.Val905Ala)
c.*2428T>C (n.*2428T>C)
c.2531T>C (p.Val844Ala)
c.*1014T>C (n.*1014T>C)
c.*2538T>C (n.*2538T>C)
c.2288T>C (p.Val763Ala)
c.305T>C (p.Val102Ala)
c.364T>C
c.1496T>C (p.Val499Ala)
c.2624T>C (p.Val875Ala)
c.2804T>C (p.Val935Ala)
c.2471T>C (p.Val824Ala)
7g.117603588T>GCA368986493CFTRc.2714T>G (p.Val905Gly)
c.*2428T>G (n.*2428T>G)
c.2531T>G (p.Val844Gly)
c.*1014T>G (n.*1014T>G)
c.*2538T>G (n.*2538T>G)
c.2288T>G (p.Val763Gly)
c.305T>G (p.Val102Gly)
c.364T>G
c.1496T>G (p.Val499Gly)
c.2624T>G (p.Val875Gly)
c.2804T>G (p.Val935Gly)
c.2471T>G (p.Val824Gly)
7g.117603589G>ACA457227928CFTRc.2715G>A (p.Val905=)
c.*2429G>A (n.*2429G>A)
c.2532G>A (p.Val844=)
c.*1015G>A (n.*1015G>A)
c.*2539G>A (n.*2539G>A)
c.2289G>A (p.Val763=)
c.306G>A (p.Val102=)
c.365G>A
c.1497G>A (p.Val499=)
c.2625G>A (p.Val875=)
c.2805G>A (p.Val935=)
c.2472G>A (p.Val824=)
 ClinVar
7g.117603589G>CCA457227929CFTRc.2715G>C (p.Val905=)
c.*2429G>C (n.*2429G>C)
c.2532G>C (p.Val844=)
c.*1015G>C (n.*1015G>C)
c.*2539G>C (n.*2539G>C)
c.2289G>C (p.Val763=)
c.306G>C (p.Val102=)
c.365G>C
c.1497G>C (p.Val499=)
c.2625G>C (p.Val875=)
c.2805G>C (p.Val935=)
c.2472G>C (p.Val824=)
7g.117603589G>TCA457227930CFTRc.2715G>T (p.Val905=)
c.*2429G>T (n.*2429G>T)
c.2532G>T (p.Val844=)
c.*1015G>T (n.*1015G>T)
c.*2539G>T (n.*2539G>T)
c.2289G>T (p.Val763=)
c.306G>T (p.Val102=)
c.365G>T
c.1497G>T (p.Val499=)
c.2625G>T (p.Val875=)
c.2805G>T (p.Val935=)
c.2472G>T (p.Val824=)
7g.117603590A>CCA368986494CFTRc.2716A>C (p.Ile906Leu)
c.*2430A>C (n.*2430A>C)
c.2533A>C (p.Ile845Leu)
c.*1016A>C (n.*1016A>C)
c.*2540A>C (n.*2540A>C)
c.2290A>C (p.Ile764Leu)
c.307A>C (p.Ile103Leu)
c.366A>C
c.1498A>C (p.Ile500Leu)
c.2626A>C (p.Ile876Leu)
c.2806A>C (p.Ile936Leu)
c.2473A>C (p.Ile825Leu)
7g.117603590A>GCA368986495CFTRc.2716A>G (p.Ile906Val)
c.*2430A>G (n.*2430A>G)
c.2533A>G (p.Ile845Val)
c.*1016A>G (n.*1016A>G)
c.*2540A>G (n.*2540A>G)
c.2290A>G (p.Ile764Val)
c.307A>G (p.Ile103Val)
c.366A>G
c.1498A>G (p.Ile500Val)
c.2626A>G (p.Ile876Val)
c.2806A>G (p.Ile936Val)
c.2473A>G (p.Ile825Val)
7g.117603590A>TCA368986496CFTRc.2716A>T (p.Ile906Phe)
c.*2430A>T (n.*2430A>T)
c.2533A>T (p.Ile845Phe)
c.*1016A>T (n.*1016A>T)
c.*2540A>T (n.*2540A>T)
c.2290A>T (p.Ile764Phe)
c.307A>T (p.Ile103Phe)
c.366A>T
c.1498A>T (p.Ile500Phe)
c.2626A>T (p.Ile876Phe)
c.2806A>T (p.Ile936Phe)
c.2473A>T (p.Ile825Phe)
7g.117603591T>ACA368986497CFTRc.2717T>A (p.Ile906Asn)
c.*2431T>A (n.*2431T>A)
c.2534T>A (p.Ile845Asn)
c.*1017T>A (n.*1017T>A)
c.*2541T>A (n.*2541T>A)
c.2291T>A (p.Ile764Asn)
c.308T>A (p.Ile103Asn)
c.367T>A
c.1499T>A (p.Ile500Asn)
c.2627T>A (p.Ile876Asn)
c.2807T>A (p.Ile936Asn)
c.2474T>A (p.Ile825Asn)
 ClinVar
7g.117603591T>CCA368986498CFTRc.2717T>C (p.Ile906Thr)
c.*2431T>C (n.*2431T>C)
c.2534T>C (p.Ile845Thr)
c.*1017T>C (n.*1017T>C)
c.*2541T>C (n.*2541T>C)
c.2291T>C (p.Ile764Thr)
c.308T>C (p.Ile103Thr)
c.367T>C
c.1499T>C (p.Ile500Thr)
c.2627T>C (p.Ile876Thr)
c.2807T>C (p.Ile936Thr)
c.2474T>C (p.Ile825Thr)
 gnomAD v4
7g.117603591T>GCA368986499CFTRc.2717T>G (p.Ile906Ser)
c.*2431T>G (n.*2431T>G)
c.2534T>G (p.Ile845Ser)
c.*1017T>G (n.*1017T>G)
c.*2541T>G (n.*2541T>G)
c.2291T>G (p.Ile764Ser)
c.308T>G (p.Ile103Ser)
c.367T>G
c.1499T>G (p.Ile500Ser)
c.2627T>G (p.Ile876Ser)
c.2807T>G (p.Ile936Ser)
c.2474T>G (p.Ile825Ser)
 gnomAD v4
7g.117603592T>ACA457227931CFTRc.2718T>A (p.Ile906=)
c.*2432T>A (n.*2432T>A)
c.2535T>A (p.Ile845=)
c.*1018T>A (n.*1018T>A)
c.*2542T>A (n.*2542T>A)
c.2292T>A (p.Ile764=)
c.309T>A (p.Ile103=)
c.368T>A
c.1500T>A (p.Ile500=)
c.2628T>A (p.Ile876=)
c.2808T>A (p.Ile936=)
c.2475T>A (p.Ile825=)
7g.117603592T>CCA457227932CFTRc.2718T>C (p.Ile906=)
c.*2432T>C (n.*2432T>C)
c.2535T>C (p.Ile845=)
c.*1018T>C (n.*1018T>C)
c.*2542T>C (n.*2542T>C)
c.2292T>C (p.Ile764=)
c.309T>C (p.Ile103=)
c.368T>C
c.1500T>C (p.Ile500=)
c.2628T>C (p.Ile876=)
c.2808T>C (p.Ile936=)
c.2475T>C (p.Ile825=)
7g.117603592T>GCA368986500CFTRc.2718T>G (p.Ile906Met)
c.*2432T>G (n.*2432T>G)
c.2535T>G (p.Ile845Met)
c.*1018T>G (n.*1018T>G)
c.*2542T>G (n.*2542T>G)
c.2292T>G (p.Ile764Met)
c.309T>G (p.Ile103Met)
c.368T>G
c.1500T>G (p.Ile500Met)
c.2628T>G (p.Ile876Met)
c.2808T>G (p.Ile936Met)
c.2475T>G (p.Ile825Met)
 gnomAD v4
7g.117603593A=CA1737374597CFTRc.2719A= (p.Ile907=)
c.*2433A= (n.*2433A=)
c.2536A= (p.Ile846=)
c.*1019A= (n.*1019A=)
c.*2543A= (n.*2543A=)
c.2293A= (p.Ile765=)
c.310A= (p.Ile104=)
c.369A=
c.1501A= (p.Ile501=)
c.2629A= (p.Ile877=)
c.2809A= (p.Ile937=)
c.2476A= (p.Ile826=)
7g.117603593A>CCA368986501CFTRc.2719A>C (p.Ile907Leu)
c.*2433A>C (n.*2433A>C)
c.2536A>C (p.Ile846Leu)
c.*1019A>C (n.*1019A>C)
c.*2543A>C (n.*2543A>C)
c.2293A>C (p.Ile765Leu)
c.310A>C (p.Ile104Leu)
c.369A>C
c.1501A>C (p.Ile501Leu)
c.2629A>C (p.Ile877Leu)
c.2809A>C (p.Ile937Leu)
c.2476A>C (p.Ile826Leu)
7g.117603593A>GCA326896CFTRc.2719A>G (p.Ile907Val)
c.*2433A>G (n.*2433A>G)
c.2536A>G (p.Ile846Val)
c.*1019A>G (n.*1019A>G)
c.*2543A>G (n.*2543A>G)
c.2293A>G (p.Ile765Val)
c.310A>G (p.Ile104Val)
c.369A>G
c.1501A>G (p.Ile501Val)
c.2629A>G (p.Ile877Val)
c.2809A>G (p.Ile937Val)
c.2476A>G (p.Ile826Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603593A>TCA368986502CFTRc.2719A>T (p.Ile907Phe)
c.*2433A>T (n.*2433A>T)
c.2536A>T (p.Ile846Phe)
c.*1019A>T (n.*1019A>T)
c.*2543A>T (n.*2543A>T)
c.2293A>T (p.Ile765Phe)
c.310A>T (p.Ile104Phe)
c.369A>T
c.1501A>T (p.Ile501Phe)
c.2629A>T (p.Ile877Phe)
c.2809A>T (p.Ile937Phe)
c.2476A>T (p.Ile826Phe)
7g.117603594T>ACA368986503CFTRc.2720T>A (p.Ile907Asn)
c.*2434T>A (n.*2434T>A)
c.2537T>A (p.Ile846Asn)
c.*1020T>A (n.*1020T>A)
c.*2544T>A (n.*2544T>A)
c.2294T>A (p.Ile765Asn)
c.311T>A (p.Ile104Asn)
c.370T>A
c.1502T>A (p.Ile501Asn)
c.2630T>A (p.Ile877Asn)
c.2810T>A (p.Ile937Asn)
c.2477T>A (p.Ile826Asn)
 ClinVar
7g.117603594T>CCA368986504CFTRc.2720T>C (p.Ile907Thr)
c.*2434T>C (n.*2434T>C)
c.2537T>C (p.Ile846Thr)
c.*1020T>C (n.*1020T>C)
c.*2544T>C (n.*2544T>C)
c.2294T>C (p.Ile765Thr)
c.311T>C (p.Ile104Thr)
c.370T>C
c.1502T>C (p.Ile501Thr)
c.2630T>C (p.Ile877Thr)
c.2810T>C (p.Ile937Thr)
c.2477T>C (p.Ile826Thr)
7g.117603594T>GCA4451278CFTRc.2720T>G (p.Ile907Ser)
c.*2434T>G (n.*2434T>G)
c.2537T>G (p.Ile846Ser)
c.*1020T>G (n.*1020T>G)
c.*2544T>G (n.*2544T>G)
c.2294T>G (p.Ile765Ser)
c.311T>G (p.Ile104Ser)
c.370T>G
c.1502T>G (p.Ile501Ser)
c.2630T>G (p.Ile877Ser)
c.2810T>G (p.Ile937Ser)
c.2477T>G (p.Ile826Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603594T=CA1737374601CFTRc.2720T= (p.Ile907=)
c.*2434T= (n.*2434T=)
c.2537T= (p.Ile846=)
c.*1020T= (n.*1020T=)
c.*2544T= (n.*2544T=)
c.2294T= (p.Ile765=)
c.311T= (p.Ile104=)
c.370T=
c.1502T= (p.Ile501=)
c.2630T= (p.Ile877=)
c.2810T= (p.Ile937=)
c.2477T= (p.Ile826=)
7g.117603595C>ACA457227933CFTRc.2721C>A (p.Ile907=)
c.*2435C>A (n.*2435C>A)
c.2538C>A (p.Ile846=)
c.*1021C>A (n.*1021C>A)
c.*2545C>A (n.*2545C>A)
c.2295C>A (p.Ile765=)
c.312C>A (p.Ile104=)
c.371C>A
c.1503C>A (p.Ile501=)
c.2631C>A (p.Ile877=)
c.2811C>A (p.Ile937=)
c.2478C>A (p.Ile826=)
7g.117603595C=CA1737374606CFTRc.2721C= (p.Ile907=)
c.*2435C= (n.*2435C=)
c.2538C= (p.Ile846=)
c.*1021C= (n.*1021C=)
c.*2545C= (n.*2545C=)
c.2295C= (p.Ile765=)
c.312C= (p.Ile104=)
c.371C=
c.1503C= (p.Ile501=)
c.2631C= (p.Ile877=)
c.2811C= (p.Ile937=)
c.2478C= (p.Ile826=)
7g.117603595C>GCA368986505CFTRc.2721C>G (p.Ile907Met)
c.*2435C>G (n.*2435C>G)
c.2538C>G (p.Ile846Met)
c.*1021C>G (n.*1021C>G)
c.*2545C>G (n.*2545C>G)
c.2295C>G (p.Ile765Met)
c.312C>G (p.Ile104Met)
c.371C>G
c.1503C>G (p.Ile501Met)
c.2631C>G (p.Ile877Met)
c.2811C>G (p.Ile937Met)
c.2478C>G (p.Ile826Met)
7g.117603595C>TCA457227934CFTRc.2721C>T (p.Ile907=)
c.*2435C>T (n.*2435C>T)
c.2538C>T (p.Ile846=)
c.*1021C>T (n.*1021C>T)
c.*2545C>T (n.*2545C>T)
c.2295C>T (p.Ile765=)
c.312C>T (p.Ile104=)
c.371C>T
c.1503C>T (p.Ile501=)
c.2631C>T (p.Ile877=)
c.2811C>T (p.Ile937=)
c.2478C>T (p.Ile826=)
 dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117603597_117603599delCA1139573579CFTRc.2723_2725del (p.Thr908del)
c.*2437_*2439del (n.*2437_*2439del)
c.2540_2542del (p.Thr847del)
c.*1023_*1025del (n.*1023_*1025del)
c.*2547_*2549del (n.*2547_*2549del)
c.2297_2299del (p.Thr766del)
c.314_316del (p.Thr105del)
c.373_375del
c.1505_1507del (p.Thr502del)
c.2633_2635del (p.Thr878del)
c.2813_2815del (p.Thr938del)
c.2480_2482del (p.Thr827del)
7g.117603596A>CCA368986506CFTRc.2722A>C (p.Thr908Pro)
c.*2436A>C (n.*2436A>C)
c.2539A>C (p.Thr847Pro)
c.*1022A>C (n.*1022A>C)
c.*2546A>C (n.*2546A>C)
c.2296A>C (p.Thr766Pro)
c.313A>C (p.Thr105Pro)
c.372A>C
c.1504A>C (p.Thr502Pro)
c.2632A>C (p.Thr878Pro)
c.2812A>C (p.Thr938Pro)
c.2479A>C (p.Thr827Pro)
7g.117603596A>GCA368986507CFTRc.2722A>G (p.Thr908Ala)
c.*2436A>G (n.*2436A>G)
c.2539A>G (p.Thr847Ala)
c.*1022A>G (n.*1022A>G)
c.*2546A>G (n.*2546A>G)
c.2296A>G (p.Thr766Ala)
c.313A>G (p.Thr105Ala)
c.372A>G
c.1504A>G (p.Thr502Ala)
c.2632A>G (p.Thr878Ala)
c.2812A>G (p.Thr938Ala)
c.2479A>G (p.Thr827Ala)
7g.117603596A>TCA368986508CFTRc.2722A>T (p.Thr908Ser)
c.*2436A>T (n.*2436A>T)
c.2539A>T (p.Thr847Ser)
c.*1022A>T (n.*1022A>T)
c.*2546A>T (n.*2546A>T)
c.2296A>T (p.Thr766Ser)
c.313A>T (p.Thr105Ser)
c.372A>T
c.1504A>T (p.Thr502Ser)
c.2632A>T (p.Thr878Ser)
c.2812A>T (p.Thr938Ser)
c.2479A>T (p.Thr827Ser)
7g.117603597C>ACA326898CFTRc.2723C>A (p.Thr908Asn)
c.*2437C>A (n.*2437C>A)
c.2540C>A (p.Thr847Asn)
c.*1023C>A (n.*1023C>A)
c.*2547C>A (n.*2547C>A)
c.2297C>A (p.Thr766Asn)
c.314C>A (p.Thr105Asn)
c.373C>A
c.1505C>A (p.Thr502Asn)
c.2633C>A (p.Thr878Asn)
c.2813C>A (p.Thr938Asn)
c.2480C>A (p.Thr827Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603597C=CA1737374616CFTRc.2723C= (p.Thr908=)
c.*2437C= (n.*2437C=)
c.2540C= (p.Thr847=)
c.*1023C= (n.*1023C=)
c.*2547C= (n.*2547C=)
c.2297C= (p.Thr766=)
c.314C= (p.Thr105=)
c.373C=
c.1505C= (p.Thr502=)
c.2633C= (p.Thr878=)
c.2813C= (p.Thr938=)
c.2480C= (p.Thr827=)
7g.117603597C>GCA368986509CFTRc.2723C>G (p.Thr908Ser)
c.*2437C>G (n.*2437C>G)
c.2540C>G (p.Thr847Ser)
c.*1023C>G (n.*1023C>G)
c.*2547C>G (n.*2547C>G)
c.2297C>G (p.Thr766Ser)
c.314C>G (p.Thr105Ser)
c.373C>G
c.1505C>G (p.Thr502Ser)
c.2633C>G (p.Thr878Ser)
c.2813C>G (p.Thr938Ser)
c.2480C>G (p.Thr827Ser)
 ClinVar dbSNP gnomAD v4
7g.117603597C>TCA368986510CFTRc.2723C>T (p.Thr908Ile)
c.*2437C>T (n.*2437C>T)
c.2540C>T (p.Thr847Ile)
c.*1023C>T (n.*1023C>T)
c.*2547C>T (n.*2547C>T)
c.2297C>T (p.Thr766Ile)
c.314C>T (p.Thr105Ile)
c.373C>T
c.1505C>T (p.Thr502Ile)
c.2633C>T (p.Thr878Ile)
c.2813C>T (p.Thr938Ile)
c.2480C>T (p.Thr827Ile)
7g.117603598C>ACA457227935CFTRc.2724C>A (p.Thr908=)
c.*2438C>A (n.*2438C>A)
c.2541C>A (p.Thr847=)
c.*1024C>A (n.*1024C>A)
c.*2548C>A (n.*2548C>A)
c.2298C>A (p.Thr766=)
c.315C>A (p.Thr105=)
c.374C>A
c.1506C>A (p.Thr502=)
c.2634C>A (p.Thr878=)
c.2814C>A (p.Thr938=)
c.2481C>A (p.Thr827=)
7g.117603598C>GCA457227936CFTRc.2724C>G (p.Thr908=)
c.*2438C>G (n.*2438C>G)
c.2541C>G (p.Thr847=)
c.*1024C>G (n.*1024C>G)
c.*2548C>G (n.*2548C>G)
c.2298C>G (p.Thr766=)
c.315C>G (p.Thr105=)
c.374C>G
c.1506C>G (p.Thr502=)
c.2634C>G (p.Thr878=)
c.2814C>G (p.Thr938=)
c.2481C>G (p.Thr827=)
7g.117603598C>TCA457227937CFTRc.2724C>T (p.Thr908=)
c.*2438C>T (n.*2438C>T)
c.2541C>T (p.Thr847=)
c.*1024C>T (n.*1024C>T)
c.*2548C>T (n.*2548C>T)
c.2298C>T (p.Thr766=)
c.315C>T (p.Thr105=)
c.374C>T
c.1506C>T (p.Thr502=)
c.2634C>T (p.Thr878=)
c.2814C>T (p.Thr938=)
c.2481C>T (p.Thr827=)
 ClinVar
7g.117603599A=CA1737374624CFTRc.2725A= (p.Ser909=)
c.*2439A= (n.*2439A=)
c.2542A= (p.Ser848=)
c.*1025A= (n.*1025A=)
c.*2549A= (n.*2549A=)
c.2299A= (p.Ser767=)
c.316A= (p.Ser106=)
c.375A=
c.1507A= (p.Ser503=)
c.2635A= (p.Ser879=)
c.2815A= (p.Ser939=)
c.2482A= (p.Ser828=)
7g.117603599A>CCA368986512CFTRc.2725A>C (p.Ser909Arg)
c.*2439A>C (n.*2439A>C)
c.2542A>C (p.Ser848Arg)
c.*1025A>C (n.*1025A>C)
c.*2549A>C (n.*2549A>C)
c.2299A>C (p.Ser767Arg)
c.316A>C (p.Ser106Arg)
c.375A>C
c.1507A>C (p.Ser503Arg)
c.2635A>C (p.Ser879Arg)
c.2815A>C (p.Ser939Arg)
c.2482A>C (p.Ser828Arg)
 COSMIC
7g.117603599A>GCA368986513CFTRc.2725A>G (p.Ser909Gly)
c.*2439A>G (n.*2439A>G)
c.2542A>G (p.Ser848Gly)
c.*1025A>G (n.*1025A>G)
c.*2549A>G (n.*2549A>G)
c.2299A>G (p.Ser767Gly)
c.316A>G (p.Ser106Gly)
c.375A>G
c.1507A>G (p.Ser503Gly)
c.2635A>G (p.Ser879Gly)
c.2815A>G (p.Ser939Gly)
c.2482A>G (p.Ser828Gly)
 ClinVar dbSNP gnomAD v4
7g.117603599A>TCA368986511CFTRc.2725A>T (p.Ser909Cys)
c.*2439A>T (n.*2439A>T)
c.2542A>T (p.Ser848Cys)
c.*1025A>T (n.*1025A>T)
c.*2549A>T (n.*2549A>T)
c.2299A>T (p.Ser767Cys)
c.316A>T (p.Ser106Cys)
c.375A>T
c.1507A>T (p.Ser503Cys)
c.2635A>T (p.Ser879Cys)
c.2815A>T (p.Ser939Cys)
c.2482A>T (p.Ser828Cys)
7g.117603600G>ACA368986515CFTRc.2726G>A (p.Ser909Asn)
c.*2440G>A (n.*2440G>A)
c.2543G>A (p.Ser848Asn)
c.*1026G>A (n.*1026G>A)
c.*2550G>A (n.*2550G>A)
c.2300G>A (p.Ser767Asn)
c.317G>A (p.Ser106Asn)
c.376G>A
c.1508G>A (p.Ser503Asn)
c.2636G>A (p.Ser879Asn)
c.2816G>A (p.Ser939Asn)
c.2483G>A (p.Ser828Asn)
7g.117603600G>CCA368986514CFTRc.2726G>C (p.Ser909Thr)
c.*2440G>C (n.*2440G>C)
c.2543G>C (p.Ser848Thr)
c.*1026G>C (n.*1026G>C)
c.*2550G>C (n.*2550G>C)
c.2300G>C (p.Ser767Thr)
c.317G>C (p.Ser106Thr)
c.376G>C
c.1508G>C (p.Ser503Thr)
c.2636G>C (p.Ser879Thr)
c.2816G>C (p.Ser939Thr)
c.2483G>C (p.Ser828Thr)
7g.117603600G=CA1737374629CFTRc.2726G= (p.Ser909=)
c.*2440G= (n.*2440G=)
c.2543G= (p.Ser848=)
c.*1026G= (n.*1026G=)
c.*2550G= (n.*2550G=)
c.2300G= (p.Ser767=)
c.317G= (p.Ser106=)
c.376G=
c.1508G= (p.Ser503=)
c.2636G= (p.Ser879=)
c.2816G= (p.Ser939=)
c.2483G= (p.Ser828=)
7g.117603600G>TCA164960034CFTRc.2726G>T (p.Ser909Ile)
c.*2440G>T (n.*2440G>T)
c.2543G>T (p.Ser848Ile)
c.*1026G>T (n.*1026G>T)
c.*2550G>T (n.*2550G>T)
c.2300G>T (p.Ser767Ile)
c.317G>T (p.Ser106Ile)
c.376G>T
c.1508G>T (p.Ser503Ile)
c.2636G>T (p.Ser879Ile)
c.2816G>T (p.Ser939Ile)
c.2483G>T (p.Ser828Ile)
 dbSNP gnomAD v3 gnomAD v4
7g.117603601C>ACA368986516CFTRc.2727C>A (p.Ser909Arg)
c.*2441C>A (n.*2441C>A)
c.2544C>A (p.Ser848Arg)
c.*1027C>A (n.*1027C>A)
c.*2551C>A (n.*2551C>A)
c.2301C>A (p.Ser767Arg)
c.318C>A (p.Ser106Arg)
c.377C>A
c.1509C>A (p.Ser503Arg)
c.2637C>A (p.Ser879Arg)
c.2817C>A (p.Ser939Arg)
c.2484C>A (p.Ser828Arg)
7g.117603601C>GCA368986517CFTRc.2727C>G (p.Ser909Arg)
c.*2441C>G (n.*2441C>G)
c.2544C>G (p.Ser848Arg)
c.*1027C>G (n.*1027C>G)
c.*2551C>G (n.*2551C>G)
c.2301C>G (p.Ser767Arg)
c.318C>G (p.Ser106Arg)
c.377C>G
c.1509C>G (p.Ser503Arg)
c.2637C>G (p.Ser879Arg)
c.2817C>G (p.Ser939Arg)
c.2484C>G (p.Ser828Arg)
7g.117603601C>TCA457227938CFTRc.2727C>T (p.Ser909=)
c.*2441C>T (n.*2441C>T)
c.2544C>T (p.Ser848=)
c.*1027C>T (n.*1027C>T)
c.*2551C>T (n.*2551C>T)
c.2301C>T (p.Ser767=)
c.318C>T (p.Ser106=)
c.377C>T
c.1509C>T (p.Ser503=)
c.2637C>T (p.Ser879=)
c.2817C>T (p.Ser939=)
c.2484C>T (p.Ser828=)
7g.117603602A>CCA368986518CFTRc.2728A>C (p.Thr910Pro)
c.*2442A>C (n.*2442A>C)
c.2545A>C (p.Thr849Pro)
c.*1028A>C (n.*1028A>C)
c.*2552A>C (n.*2552A>C)
c.2302A>C (p.Thr768Pro)
c.319A>C (p.Thr107Pro)
c.378A>C
c.1510A>C (p.Thr504Pro)
c.2638A>C (p.Thr880Pro)
c.2818A>C (p.Thr940Pro)
c.2485A>C (p.Thr829Pro)
7g.117603602A>GCA368986519CFTRc.2728A>G (p.Thr910Ala)
c.*2442A>G (n.*2442A>G)
c.2545A>G (p.Thr849Ala)
c.*1028A>G (n.*1028A>G)
c.*2552A>G (n.*2552A>G)
c.2302A>G (p.Thr768Ala)
c.319A>G (p.Thr107Ala)
c.378A>G
c.1510A>G (p.Thr504Ala)
c.2638A>G (p.Thr880Ala)
c.2818A>G (p.Thr940Ala)
c.2485A>G (p.Thr829Ala)
7g.117603602A>TCA368986520CFTRc.2728A>T (p.Thr910Ser)
c.*2442A>T (n.*2442A>T)
c.2545A>T (p.Thr849Ser)
c.*1028A>T (n.*1028A>T)
c.*2552A>T (n.*2552A>T)
c.2302A>T (p.Thr768Ser)
c.319A>T (p.Thr107Ser)
c.378A>T
c.1510A>T (p.Thr504Ser)
c.2638A>T (p.Thr880Ser)
c.2818A>T (p.Thr940Ser)
c.2485A>T (p.Thr829Ser)
7g.117603603C>ACA368986521CFTRc.2729C>A (p.Thr910Asn)
c.*2443C>A (n.*2443C>A)
c.2546C>A (p.Thr849Asn)
c.*1029C>A (n.*1029C>A)
c.*2553C>A (n.*2553C>A)
c.2303C>A (p.Thr768Asn)
c.320C>A (p.Thr107Asn)
c.379C>A
c.1511C>A (p.Thr504Asn)
c.2639C>A (p.Thr880Asn)
c.2819C>A (p.Thr940Asn)
c.2486C>A (p.Thr829Asn)
7g.117603603C=CA1737374634CFTRc.2729C= (p.Thr910=)
c.*2443C= (n.*2443C=)
c.2546C= (p.Thr849=)
c.*1029C= (n.*1029C=)
c.*2553C= (n.*2553C=)
c.2303C= (p.Thr768=)
c.320C= (p.Thr107=)
c.379C=
c.1511C= (p.Thr504=)
c.2639C= (p.Thr880=)
c.2819C= (p.Thr940=)
c.2486C= (p.Thr829=)
7g.117603603C>GCA368986522CFTRc.2729C>G (p.Thr910Ser)
c.*2443C>G (n.*2443C>G)
c.2546C>G (p.Thr849Ser)
c.*1029C>G (n.*1029C>G)
c.*2553C>G (n.*2553C>G)
c.2303C>G (p.Thr768Ser)
c.320C>G (p.Thr107Ser)
c.379C>G
c.1511C>G (p.Thr504Ser)
c.2639C>G (p.Thr880Ser)
c.2819C>G (p.Thr940Ser)
c.2486C>G (p.Thr829Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603603C>TCA368986523CFTRc.2729C>T (p.Thr910Ile)
c.*2443C>T (n.*2443C>T)
c.2546C>T (p.Thr849Ile)
c.*1029C>T (n.*1029C>T)
c.*2553C>T (n.*2553C>T)
c.2303C>T (p.Thr768Ile)
c.320C>T (p.Thr107Ile)
c.379C>T
c.1511C>T (p.Thr504Ile)
c.2639C>T (p.Thr880Ile)
c.2819C>T (p.Thr940Ile)
c.2486C>T (p.Thr829Ile)
7g.117603604C>ACA457227941CFTRc.2730C>A (p.Thr910=)
c.*2444C>A (n.*2444C>A)
c.2547C>A (p.Thr849=)
c.*1030C>A (n.*1030C>A)
c.*2554C>A (n.*2554C>A)
c.2304C>A (p.Thr768=)
c.321C>A (p.Thr107=)
c.380C>A
c.1512C>A (p.Thr504=)
c.2640C>A (p.Thr880=)
c.2820C>A (p.Thr940=)
c.2487C>A (p.Thr829=)
 ClinVar dbSNP
7g.117603604C>GCA457227940CFTRc.2730C>G (p.Thr910=)
c.*2444C>G (n.*2444C>G)
c.2547C>G (p.Thr849=)
c.*1030C>G (n.*1030C>G)
c.*2554C>G (n.*2554C>G)
c.2304C>G (p.Thr768=)
c.321C>G (p.Thr107=)
c.380C>G
c.1512C>G (p.Thr504=)
c.2640C>G (p.Thr880=)
c.2820C>G (p.Thr940=)
c.2487C>G (p.Thr829=)
 ClinVar
7g.117603604C>TCA457227939CFTRc.2730C>T (p.Thr910=)
c.*2444C>T (n.*2444C>T)
c.2547C>T (p.Thr849=)
c.*1030C>T (n.*1030C>T)
c.*2554C>T (n.*2554C>T)
c.2304C>T (p.Thr768=)
c.321C>T (p.Thr107=)
c.380C>T
c.1512C>T (p.Thr504=)
c.2640C>T (p.Thr880=)
c.2820C>T (p.Thr940=)
c.2487C>T (p.Thr829=)
 ClinVar
7g.117603605A=CA1737374638CFTRc.2731A= (p.Ser911=)
c.*2445A= (n.*2445A=)
c.2548A= (p.Ser850=)
c.*1031A= (n.*1031A=)
c.*2555A= (n.*2555A=)
c.2305A= (p.Ser769=)
c.322A= (p.Ser108=)
c.381A=
c.1513A= (p.Ser505=)
c.2641A= (p.Ser881=)
c.2821A= (p.Ser941=)
c.2488A= (p.Ser830=)
7g.117603605A>CCA368986524CFTRc.2731A>C (p.Ser911Arg)
c.*2445A>C (n.*2445A>C)
c.2548A>C (p.Ser850Arg)
c.*1031A>C (n.*1031A>C)
c.*2555A>C (n.*2555A>C)
c.2305A>C (p.Ser769Arg)
c.322A>C (p.Ser108Arg)
c.381A>C
c.1513A>C (p.Ser505Arg)
c.2641A>C (p.Ser881Arg)
c.2821A>C (p.Ser941Arg)
c.2488A>C (p.Ser830Arg)
7g.117603605A>GCA368986525CFTRc.2731A>G (p.Ser911Gly)
c.*2445A>G (n.*2445A>G)
c.2548A>G (p.Ser850Gly)
c.*1031A>G (n.*1031A>G)
c.*2555A>G (n.*2555A>G)
c.2305A>G (p.Ser769Gly)
c.322A>G (p.Ser108Gly)
c.381A>G
c.1513A>G (p.Ser505Gly)
c.2641A>G (p.Ser881Gly)
c.2821A>G (p.Ser941Gly)
c.2488A>G (p.Ser830Gly)
 dbSNP
7g.117603605A>TCA368986526CFTRc.2731A>T (p.Ser911Cys)
c.*2445A>T (n.*2445A>T)
c.2548A>T (p.Ser850Cys)
c.*1031A>T (n.*1031A>T)
c.*2555A>T (n.*2555A>T)
c.2305A>T (p.Ser769Cys)
c.322A>T (p.Ser108Cys)
c.381A>T
c.1513A>T (p.Ser505Cys)
c.2641A>T (p.Ser881Cys)
c.2821A>T (p.Ser941Cys)
c.2488A>T (p.Ser830Cys)
7g.117603606G>ACA4451279CFTRc.2732G>A (p.Ser911Asn)
c.*2446G>A (n.*2446G>A)
c.2549G>A (p.Ser850Asn)
c.*1032G>A (n.*1032G>A)
c.*2556G>A (n.*2556G>A)
c.2306G>A (p.Ser769Asn)
c.323G>A (p.Ser108Asn)
c.382G>A
c.1514G>A (p.Ser505Asn)
c.2642G>A (p.Ser881Asn)
c.2822G>A (p.Ser941Asn)
c.2489G>A (p.Ser830Asn)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603606G>CCA368986528CFTRc.2732G>C (p.Ser911Thr)
c.*2446G>C (n.*2446G>C)
c.2549G>C (p.Ser850Thr)
c.*1032G>C (n.*1032G>C)
c.*2556G>C (n.*2556G>C)
c.2306G>C (p.Ser769Thr)
c.323G>C (p.Ser108Thr)
c.382G>C
c.1514G>C (p.Ser505Thr)
c.2642G>C (p.Ser881Thr)
c.2822G>C (p.Ser941Thr)
c.2489G>C (p.Ser830Thr)
 ClinVar dbSNP
7g.117603606G=CA1737374645CFTRc.2732G= (p.Ser911=)
c.*2446G= (n.*2446G=)
c.2549G= (p.Ser850=)
c.*1032G= (n.*1032G=)
c.*2556G= (n.*2556G=)
c.2306G= (p.Ser769=)
c.323G= (p.Ser108=)
c.382G=
c.1514G= (p.Ser505=)
c.2642G= (p.Ser881=)
c.2822G= (p.Ser941=)
c.2489G= (p.Ser830=)
7g.117603606G>TCA368986527CFTRc.2732G>T (p.Ser911Ile)
c.*2446G>T (n.*2446G>T)
c.2549G>T (p.Ser850Ile)
c.*1032G>T (n.*1032G>T)
c.*2556G>T (n.*2556G>T)
c.2306G>T (p.Ser769Ile)
c.323G>T (p.Ser108Ile)
c.382G>T
c.1514G>T (p.Ser505Ile)
c.2642G>T (p.Ser881Ile)
c.2822G>T (p.Ser941Ile)
c.2489G>T (p.Ser830Ile)
7g.117603607T>ACA368986529CFTRc.2733T>A (p.Ser911Arg)
c.*2447T>A (n.*2447T>A)
c.2550T>A (p.Ser850Arg)
c.*1033T>A (n.*1033T>A)
c.*2557T>A (n.*2557T>A)
c.2307T>A (p.Ser769Arg)
c.324T>A (p.Ser108Arg)
c.383T>A
c.1515T>A (p.Ser505Arg)
c.2643T>A (p.Ser881Arg)
c.2823T>A (p.Ser941Arg)
c.2490T>A (p.Ser830Arg)
7g.117603607T>CCA457227942CFTRc.2733T>C (p.Ser911=)
c.*2447T>C (n.*2447T>C)
c.2550T>C (p.Ser850=)
c.*1033T>C (n.*1033T>C)
c.*2557T>C (n.*2557T>C)
c.2307T>C (p.Ser769=)
c.324T>C (p.Ser108=)
c.383T>C
c.1515T>C (p.Ser505=)
c.2643T>C (p.Ser881=)
c.2823T>C (p.Ser941=)
c.2490T>C (p.Ser830=)
 ClinVar
7g.117603607T>GCA368986530CFTRc.2733T>G (p.Ser911Arg)
c.*2447T>G (n.*2447T>G)
c.2550T>G (p.Ser850Arg)
c.*1033T>G (n.*1033T>G)
c.*2557T>G (n.*2557T>G)
c.2307T>G (p.Ser769Arg)
c.324T>G (p.Ser108Arg)
c.383T>G
c.1515T>G (p.Ser505Arg)
c.2643T>G (p.Ser881Arg)
c.2823T>G (p.Ser941Arg)
c.2490T>G (p.Ser830Arg)
 ClinVar dbSNP
7g.117603607T=CA1737374652CFTRc.2733T= (p.Ser911=)
c.*2447T= (n.*2447T=)
c.2550T= (p.Ser850=)
c.*1033T= (n.*1033T=)
c.*2557T= (n.*2557T=)
c.2307T= (p.Ser769=)
c.324T= (p.Ser108=)
c.383T=
c.1515T= (p.Ser505=)
c.2643T= (p.Ser881=)
c.2823T= (p.Ser941=)
c.2490T= (p.Ser830=)
7g.117603608T>ACA368986531CFTRc.2734T>A (p.Ser912Thr)
c.*2448T>A (n.*2448T>A)
c.2551T>A (p.Ser851Thr)
c.*1034T>A (n.*1034T>A)
c.*2558T>A (n.*2558T>A)
c.2308T>A (p.Ser770Thr)
c.325T>A (p.Ser109Thr)
c.384T>A
c.1516T>A (p.Ser506Thr)
c.2644T>A (p.Ser882Thr)
c.2824T>A (p.Ser942Thr)
c.2491T>A (p.Ser831Thr)
 ClinVar dbSNP
7g.117603608T>CCA368986532CFTRc.2734T>C (p.Ser912Pro)
c.*2448T>C (n.*2448T>C)
c.2551T>C (p.Ser851Pro)
c.*1034T>C (n.*1034T>C)
c.*2558T>C (n.*2558T>C)
c.2308T>C (p.Ser770Pro)
c.325T>C (p.Ser109Pro)
c.384T>C
c.1516T>C (p.Ser506Pro)
c.2644T>C (p.Ser882Pro)
c.2824T>C (p.Ser942Pro)
c.2491T>C (p.Ser831Pro)
7g.117603608T>GCA368986533CFTRc.2734T>G (p.Ser912Ala)
c.*2448T>G (n.*2448T>G)
c.2551T>G (p.Ser851Ala)
c.*1034T>G (n.*1034T>G)
c.*2558T>G (n.*2558T>G)
c.2308T>G (p.Ser770Ala)
c.325T>G (p.Ser109Ala)
c.384T>G
c.1516T>G (p.Ser506Ala)
c.2644T>G (p.Ser882Ala)
c.2824T>G (p.Ser942Ala)
c.2491T>G (p.Ser831Ala)
7g.117603608T=CA1737374663CFTRc.2734T= (p.Ser912=)
c.*2448T= (n.*2448T=)
c.2551T= (p.Ser851=)
c.*1034T= (n.*1034T=)
c.*2558T= (n.*2558T=)
c.2308T= (p.Ser770=)
c.325T= (p.Ser109=)
c.384T=
c.1516T= (p.Ser506=)
c.2644T= (p.Ser882=)
c.2824T= (p.Ser942=)
c.2491T= (p.Ser831=)
7g.117603609C>ACA326900CFTRc.2735C>A (p.Ser912Ter)
c.*2449C>A (n.*2449C>A)
c.2552C>A (p.Ser851Ter)
c.*1035C>A (n.*1035C>A)
c.*2559C>A (n.*2559C>A)
c.2309C>A (p.Ser770Ter)
c.326C>A (p.Ser109Ter)
c.385C>A
c.1517C>A (p.Ser506Ter)
c.2645C>A (p.Ser882Ter)
c.2825C>A (p.Ser942Ter)
c.2492C>A (p.Ser831Ter)
 ClinVar dbSNP
7g.117603609C=CA1737374679CFTRc.2735C= (p.Ser912=)
c.*2449C= (n.*2449C=)
c.2552C= (p.Ser851=)
c.*1035C= (n.*1035C=)
c.*2559C= (n.*2559C=)
c.2309C= (p.Ser770=)
c.326C= (p.Ser109=)
c.385C=
c.1517C= (p.Ser506=)
c.2645C= (p.Ser882=)
c.2825C= (p.Ser942=)
c.2492C= (p.Ser831=)
7g.117603609C>GCA368986536CFTRc.2735C>G (p.Ser912Trp)
c.*2449C>G (n.*2449C>G)
c.2552C>G (p.Ser851Trp)
c.*1035C>G (n.*1035C>G)
c.*2559C>G (n.*2559C>G)
c.2309C>G (p.Ser770Trp)
c.326C>G (p.Ser109Trp)
c.385C>G
c.1517C>G (p.Ser506Trp)
c.2645C>G (p.Ser882Trp)
c.2825C>G (p.Ser942Trp)
c.2492C>G (p.Ser831Trp)
 gnomAD v4
7g.117603609C>TCA325592CFTRc.2735C>T (p.Ser912Leu)
c.*2449C>T (n.*2449C>T)
c.2552C>T (p.Ser851Leu)
c.*1035C>T (n.*1035C>T)
c.*2559C>T (n.*2559C>T)
c.2309C>T (p.Ser770Leu)
c.326C>T (p.Ser109Leu)
c.385C>T
c.1517C>T (p.Ser506Leu)
c.2645C>T (p.Ser882Leu)
c.2825C>T (p.Ser942Leu)
c.2492C>T (p.Ser831Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.[117603609C>T;117642451G>T]CA357860CFTRc.[2735C>T;3531G>T] (p.[Ser912Leu;Gly1177=])
c.[*2449C>T;*3445G>T] (n.[*2449C>T;*3445G>T])
c.[2552C>T;3548G>T] (p.[Ser851Leu;Gly1183Val])
c.[2735C>T;3731G>T] (p.[Ser912Leu;Gly1244Val])
c.[2735C>T;*384G>T] ([p.Ser912Leu;n.*384G>T])
c.[2735C>T;*392G>T] ([p.Ser912Leu;n.*392G>T])
c.[*1035C>T;*2106G>T] (n.[*1035C>T;*2106G>T])
c.[2735C>T;3725G>T] (p.[Ser912Leu;Gly1242Val])
c.[*2559C>T;*3555G>T] (n.[*2559C>T;*3555G>T])
c.[2309C>T;3305G>T] (p.[Ser770Leu;Gly1102Val])
c.[326C>T;1518G>T] ([p.Ser109Leu;n.1518G>T])
c.[385C>T;1181G>T]
c.[2645C>T;3641G>T] (p.[Ser882Leu;Gly1214Val])
c.[2825C>T;3821G>T] (p.[Ser942Leu;Gly1274Val])
c.[2492C>T;3488G>T] (p.[Ser831Leu;Gly1163Val])
 ClinVar
7g.117603610G>ACA240842CFTRc.2736G>A (p.Ser912=)
c.*2450G>A (n.*2450G>A)
c.2553G>A (p.Ser851=)
c.*1036G>A (n.*1036G>A)
c.*2560G>A (n.*2560G>A)
c.2310G>A (p.Ser770=)
c.327G>A (p.Ser109=)
c.386G>A
c.1518G>A (p.Ser506=)
c.2646G>A (p.Ser882=)
c.2826G>A (p.Ser942=)
c.2493G>A (p.Ser831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603610G>CCA4451280CFTRc.2736G>C (p.Ser912=)
c.*2450G>C (n.*2450G>C)
c.2553G>C (p.Ser851=)
c.*1036G>C (n.*1036G>C)
c.*2560G>C (n.*2560G>C)
c.2310G>C (p.Ser770=)
c.327G>C (p.Ser109=)
c.386G>C
c.1518G>C (p.Ser506=)
c.2646G>C (p.Ser882=)
c.2826G>C (p.Ser942=)
c.2493G>C (p.Ser831=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603610G=CA1737374704CFTRc.2736G= (p.Ser912=)
c.*2450G= (n.*2450G=)
c.2553G= (p.Ser851=)
c.*1036G= (n.*1036G=)
c.*2560G= (n.*2560G=)
c.2310G= (p.Ser770=)
c.327G= (p.Ser109=)
c.386G=
c.1518G= (p.Ser506=)
c.2646G= (p.Ser882=)
c.2826G= (p.Ser942=)
c.2493G= (p.Ser831=)
7g.117603610G>TCA4451281CFTRc.2736G>T (p.Ser912=)
c.*2450G>T (n.*2450G>T)
c.2553G>T (p.Ser851=)
c.*1036G>T (n.*1036G>T)
c.*2560G>T (n.*2560G>T)
c.2310G>T (p.Ser770=)
c.327G>T (p.Ser109=)
c.386G>T
c.1518G>T (p.Ser506=)
c.2646G>T (p.Ser882=)
c.2826G>T (p.Ser942=)
c.2493G>T (p.Ser831=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603610dupCA326902CFTRc.2736dup (p.Tyr913ValfsTer?)
c.*2450dup (n.*2450dup)
c.2553dup (p.Tyr852ValfsTer?)
c.*1036dup (n.*1036dup)
c.*2560dup (n.*2560dup)
c.2310dup (p.Tyr771ValfsTer?)
c.327dup (p.Tyr110ValfsTer?)
c.386dup
c.1518dup (p.Tyr507ValfsTer?)
c.2646dup (p.Tyr883ValfsTer?)
c.2826dup (p.Tyr943ValfsTer?)
c.2493dup (p.Tyr832ValfsTer?)
 dbSNP
7g.117603611T>ACA368986545CFTRc.2737T>A (p.Tyr913Asn)
c.*2451T>A (n.*2451T>A)
c.2554T>A (p.Tyr852Asn)
c.*1037T>A (n.*1037T>A)
c.*2561T>A (n.*2561T>A)
c.2311T>A (p.Tyr771Asn)
c.328T>A (p.Tyr110Asn)
c.387T>A
c.1519T>A (p.Tyr507Asn)
c.2647T>A (p.Tyr883Asn)
c.2827T>A (p.Tyr943Asn)
c.2494T>A (p.Tyr832Asn)
7g.117603611T>CCA368986548CFTRc.2737T>C (p.Tyr913His)
c.*2451T>C (n.*2451T>C)
c.2554T>C (p.Tyr852His)
c.*1037T>C (n.*1037T>C)
c.*2561T>C (n.*2561T>C)
c.2311T>C (p.Tyr771His)
c.328T>C (p.Tyr110His)
c.387T>C
c.1519T>C (p.Tyr507His)
c.2647T>C (p.Tyr883His)
c.2827T>C (p.Tyr943His)
c.2494T>C (p.Tyr832His)
7g.117603611T>GCA368986544CFTRc.2737T>G (p.Tyr913Asp)
c.*2451T>G (n.*2451T>G)
c.2554T>G (p.Tyr852Asp)
c.*1037T>G (n.*1037T>G)
c.*2561T>G (n.*2561T>G)
c.2311T>G (p.Tyr771Asp)
c.328T>G (p.Tyr110Asp)
c.387T>G
c.1519T>G (p.Tyr507Asp)
c.2647T>G (p.Tyr883Asp)
c.2827T>G (p.Tyr943Asp)
c.2494T>G (p.Tyr832Asp)
7g.117603611T=CA1737374711CFTRc.2737T= (p.Tyr913=)
c.*2451T= (n.*2451T=)
c.2554T= (p.Tyr852=)
c.*1037T= (n.*1037T=)
c.*2561T= (n.*2561T=)
c.2311T= (p.Tyr771=)
c.328T= (p.Tyr110=)
c.387T=
c.1519T= (p.Tyr507=)
c.2647T= (p.Tyr883=)
c.2827T= (p.Tyr943=)
c.2494T= (p.Tyr832=)
7g.117603611_117603612insGCA325544CFTRc.2737_2738insG (p.Tyr913Ter)
c.*2451_*2452insG (n.*2451_*2452insG)
c.2554_2555insG (p.Tyr852Ter)
c.*1037_*1038insG (n.*1037_*1038insG)
c.*2561_*2562insG (n.*2561_*2562insG)
c.2311_2312insG (p.Tyr771Ter)
c.328_329insG (p.Tyr110Ter)
c.387_388insG
c.1519_1520insG (p.Tyr507Ter)
c.2647_2648insG (p.Tyr883Ter)
c.2827_2828insG (p.Tyr943Ter)
c.2494_2495insG (p.Tyr832Ter)
 ClinVar dbSNP
7g.117603612A=CA1737374718CFTRc.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=)
7g.117603612A>CCA368986553CFTRc.2738A>C (p.Tyr913Ser)
c.*2452A>C (n.*2452A>C)
c.2555A>C (p.Tyr852Ser)
c.*1038A>C (n.*1038A>C)
c.*2562A>C (n.*2562A>C)
c.2312A>C (p.Tyr771Ser)
c.329A>C (p.Tyr110Ser)
c.388A>C
c.1520A>C (p.Tyr507Ser)
c.2648A>C (p.Tyr883Ser)
c.2828A>C (p.Tyr943Ser)
c.2495A>C (p.Tyr832Ser)
7g.117603612A>GCA325529CFTRc.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
7g.117603612A>TCA368986564CFTRc.2738A>T (p.Tyr913Phe)
c.*2452A>T (n.*2452A>T)
c.2555A>T (p.Tyr852Phe)
c.*1038A>T (n.*1038A>T)
c.*2562A>T (n.*2562A>T)
c.2312A>T (p.Tyr771Phe)
c.329A>T (p.Tyr110Phe)
c.388A>T
c.1520A>T (p.Tyr507Phe)
c.2648A>T (p.Tyr883Phe)
c.2828A>T (p.Tyr943Phe)
c.2495A>T (p.Tyr832Phe)
7g.117603613T>ACA326903CFTRc.2739T>A (p.Tyr913Ter)
c.*2453T>A (n.*2453T>A)
c.2556T>A (p.Tyr852Ter)
c.*1039T>A (n.*1039T>A)
c.*2563T>A (n.*2563T>A)
c.2313T>A (p.Tyr771Ter)
c.330T>A (p.Tyr110Ter)
c.389T>A
c.1521T>A (p.Tyr507Ter)
c.2649T>A (p.Tyr883Ter)
c.2829T>A (p.Tyr943Ter)
c.2496T>A (p.Tyr832Ter)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603613T>CCA457227943CFTRc.2739T>C (p.Tyr913=)
c.*2453T>C (n.*2453T>C)
c.2556T>C (p.Tyr852=)
c.*1039T>C (n.*1039T>C)
c.*2563T>C (n.*2563T>C)
c.2313T>C (p.Tyr771=)
c.330T>C (p.Tyr110=)
c.389T>C
c.1521T>C (p.Tyr507=)
c.2649T>C (p.Tyr883=)
c.2829T>C (p.Tyr943=)
c.2496T>C (p.Tyr832=)
 ClinVar dbSNP
7g.117603613T>GCA368986574CFTRc.2739T>G (p.Tyr913Ter)
c.*2453T>G (n.*2453T>G)
c.2556T>G (p.Tyr852Ter)
c.*1039T>G (n.*1039T>G)
c.*2563T>G (n.*2563T>G)
c.2313T>G (p.Tyr771Ter)
c.330T>G (p.Tyr110Ter)
c.389T>G
c.1521T>G (p.Tyr507Ter)
c.2649T>G (p.Tyr883Ter)
c.2829T>G (p.Tyr943Ter)
c.2496T>G (p.Tyr832Ter)
 ClinVar
7g.117603613T=CA1737374723CFTRc.2739T= (p.Tyr913=)
c.*2453T= (n.*2453T=)
c.2556T= (p.Tyr852=)
c.*1039T= (n.*1039T=)
c.*2563T= (n.*2563T=)
c.2313T= (p.Tyr771=)
c.330T= (p.Tyr110=)
c.389T=
c.1521T= (p.Tyr507=)
c.2649T= (p.Tyr883=)
c.2829T= (p.Tyr943=)
c.2496T= (p.Tyr832=)
7g.117603614T>ACA368986577CFTRc.2740T>A (p.Tyr914Asn)
c.*2454T>A (n.*2454T>A)
c.2557T>A (p.Tyr853Asn)
c.*1040T>A (n.*1040T>A)
c.*2564T>A (n.*2564T>A)
c.2314T>A (p.Tyr772Asn)
c.331T>A (p.Tyr111Asn)
c.390T>A
c.1522T>A (p.Tyr508Asn)
c.2650T>A (p.Tyr884Asn)
c.2830T>A (p.Tyr944Asn)
c.2497T>A (p.Tyr833Asn)
7g.117603614T>CCA368986579CFTRc.2740T>C (p.Tyr914His)
c.*2454T>C (n.*2454T>C)
c.2557T>C (p.Tyr853His)
c.*1040T>C (n.*1040T>C)
c.*2564T>C (n.*2564T>C)
c.2314T>C (p.Tyr772His)
c.331T>C (p.Tyr111His)
c.390T>C
c.1522T>C (p.Tyr508His)
c.2650T>C (p.Tyr884His)
c.2830T>C (p.Tyr944His)
c.2497T>C (p.Tyr833His)
7g.117603614T>GCA368986582CFTRc.2740T>G (p.Tyr914Asp)
c.*2454T>G (n.*2454T>G)
c.2557T>G (p.Tyr853Asp)
c.*1040T>G (n.*1040T>G)
c.*2564T>G (n.*2564T>G)
c.2314T>G (p.Tyr772Asp)
c.331T>G (p.Tyr111Asp)
c.390T>G
c.1522T>G (p.Tyr508Asp)
c.2650T>G (p.Tyr884Asp)
c.2830T>G (p.Tyr944Asp)
c.2497T>G (p.Tyr833Asp)
7g.117603615A>CCA368986584CFTRc.2741A>C (p.Tyr914Ser)
c.*2455A>C (n.*2455A>C)
c.2558A>C (p.Tyr853Ser)
c.*1041A>C (n.*1041A>C)
c.*2565A>C (n.*2565A>C)
c.2315A>C (p.Tyr772Ser)
c.332A>C (p.Tyr111Ser)
c.391A>C
c.1523A>C (p.Tyr508Ser)
c.2651A>C (p.Tyr884Ser)
c.2831A>C (p.Tyr944Ser)
c.2498A>C (p.Tyr833Ser)
7g.117603615A>GCA368986585CFTRc.2741A>G (p.Tyr914Cys)
c.*2455A>G (n.*2455A>G)
c.2558A>G (p.Tyr853Cys)
c.*1041A>G (n.*1041A>G)
c.*2565A>G (n.*2565A>G)
c.2315A>G (p.Tyr772Cys)
c.332A>G (p.Tyr111Cys)
c.391A>G
c.1523A>G (p.Tyr508Cys)
c.2651A>G (p.Tyr884Cys)
c.2831A>G (p.Tyr944Cys)
c.2498A>G (p.Tyr833Cys)
7g.117603615A>TCA368986588CFTRc.2741A>T (p.Tyr914Phe)
c.*2455A>T (n.*2455A>T)
c.2558A>T (p.Tyr853Phe)
c.*1041A>T (n.*1041A>T)
c.*2565A>T (n.*2565A>T)
c.2315A>T (p.Tyr772Phe)
c.332A>T (p.Tyr111Phe)
c.391A>T
c.1523A>T (p.Tyr508Phe)
c.2651A>T (p.Tyr884Phe)
c.2831A>T (p.Tyr944Phe)
c.2498A>T (p.Tyr833Phe)
7g.117603616T>ACA368986596CFTRc.2742T>A (p.Tyr914Ter)
c.*2456T>A (n.*2456T>A)
c.2559T>A (p.Tyr853Ter)
c.*1042T>A (n.*1042T>A)
c.*2566T>A (n.*2566T>A)
c.2316T>A (p.Tyr772Ter)
c.333T>A (p.Tyr111Ter)
c.392T>A
c.1524T>A (p.Tyr508Ter)
c.2652T>A (p.Tyr884Ter)
c.2832T>A (p.Tyr944Ter)
c.2499T>A (p.Tyr833Ter)
7g.117603616T>CCA164960091CFTRc.2742T>C (p.Tyr914=)
c.*2456T>C (n.*2456T>C)
c.2559T>C (p.Tyr853=)
c.*1042T>C (n.*1042T>C)
c.*2566T>C (n.*2566T>C)
c.2316T>C (p.Tyr772=)
c.333T>C (p.Tyr111=)
c.392T>C
c.1524T>C (p.Tyr508=)
c.2652T>C (p.Tyr884=)
c.2832T>C (p.Tyr944=)
c.2499T>C (p.Tyr833=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603616T>GCA368986592CFTRc.2742T>G (p.Tyr914Ter)
c.*2456T>G (n.*2456T>G)
c.2559T>G (p.Tyr853Ter)
c.*1042T>G (n.*1042T>G)
c.*2566T>G (n.*2566T>G)
c.2316T>G (p.Tyr772Ter)
c.333T>G (p.Tyr111Ter)
c.392T>G
c.1524T>G (p.Tyr508Ter)
c.2652T>G (p.Tyr884Ter)
c.2832T>G (p.Tyr944Ter)
c.2499T>G (p.Tyr833Ter)
 ClinVar
7g.117603616T=CA1737374735CFTRc.2742T= (p.Tyr914=)
c.*2456T= (n.*2456T=)
c.2559T= (p.Tyr853=)
c.*1042T= (n.*1042T=)
c.*2566T= (n.*2566T=)
c.2316T= (p.Tyr772=)
c.333T= (p.Tyr111=)
c.392T=
c.1524T= (p.Tyr508=)
c.2652T= (p.Tyr884=)
c.2832T= (p.Tyr944=)
c.2499T= (p.Tyr833=)
7g.117603617G>ACA368986600CFTRc.2743G>A (p.Val915Met)
c.*2457G>A (n.*2457G>A)
c.2560G>A (p.Val854Met)
c.*1043G>A (n.*1043G>A)
c.*2567G>A (n.*2567G>A)
c.2317G>A (p.Val773Met)
c.334G>A (p.Val112Met)
c.393G>A
c.1525G>A (p.Val509Met)
c.2653G>A (p.Val885Met)
c.2833G>A (p.Val945Met)
c.2500G>A (p.Val834Met)
7g.117603617G>CCA4451282CFTRc.2743G>C (p.Val915Leu)
c.*2457G>C (n.*2457G>C)
c.2560G>C (p.Val854Leu)
c.*1043G>C (n.*1043G>C)
c.*2567G>C (n.*2567G>C)
c.2317G>C (p.Val773Leu)
c.334G>C (p.Val112Leu)
c.393G>C
c.1525G>C (p.Val509Leu)
c.2653G>C (p.Val885Leu)
c.2833G>C (p.Val945Leu)
c.2500G>C (p.Val834Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603617G=CA1737374746CFTRc.2743G= (p.Val915=)
c.*2457G= (n.*2457G=)
c.2560G= (p.Val854=)
c.*1043G= (n.*1043G=)
c.*2567G= (n.*2567G=)
c.2317G= (p.Val773=)
c.334G= (p.Val112=)
c.393G=
c.1525G= (p.Val509=)
c.2653G= (p.Val885=)
c.2833G= (p.Val945=)
c.2500G= (p.Val834=)
7g.117603617G>TCA368986603CFTRc.2743G>T (p.Val915Leu)
c.*2457G>T (n.*2457G>T)
c.2560G>T (p.Val854Leu)
c.*1043G>T (n.*1043G>T)
c.*2567G>T (n.*2567G>T)
c.2317G>T (p.Val773Leu)
c.334G>T (p.Val112Leu)
c.393G>T
c.1525G>T (p.Val509Leu)
c.2653G>T (p.Val885Leu)
c.2833G>T (p.Val945Leu)
c.2500G>T (p.Val834Leu)
7g.117603617_117603619delinsACA2580076338CFTRc.2743_2745delinsA (p.Val915IlefsTer?)
c.*2457_*2459delinsA (n.*2457_*2459delinsA)
c.2560_2562delinsA (p.Val854IlefsTer?)
c.*1043_*1045delinsA (n.*1043_*1045delinsA)
c.*2567_*2569delinsA (n.*2567_*2569delinsA)
c.2317_2319delinsA (p.Val773IlefsTer?)
c.334_336delinsA (p.Val112IlefsTer?)
c.393_395delinsA
c.1525_1527delinsA (p.Val509IlefsTer?)
c.2653_2655delinsA (p.Val885IlefsTer?)
c.2833_2835delinsA (p.Val945IlefsTer?)
c.2500_2502delinsA (p.Val834IlefsTer?)
 ClinVar
7g.117603618T>ACA368986612CFTRc.2744T>A (p.Val915Glu)
c.*2458T>A (n.*2458T>A)
c.2561T>A (p.Val854Glu)
c.*1044T>A (n.*1044T>A)
c.*2568T>A (n.*2568T>A)
c.2318T>A (p.Val773Glu)
c.335T>A (p.Val112Glu)
c.394T>A
c.1526T>A (p.Val509Glu)
c.2654T>A (p.Val885Glu)
c.2834T>A (p.Val945Glu)
c.2501T>A (p.Val834Glu)
7g.117603618T>CCA368986615CFTRc.2744T>C (p.Val915Ala)
c.*2458T>C (n.*2458T>C)
c.2561T>C (p.Val854Ala)
c.*1044T>C (n.*1044T>C)
c.*2568T>C (n.*2568T>C)
c.2318T>C (p.Val773Ala)
c.335T>C (p.Val112Ala)
c.394T>C
c.1526T>C (p.Val509Ala)
c.2654T>C (p.Val885Ala)
c.2834T>C (p.Val945Ala)
c.2501T>C (p.Val834Ala)
7g.117603618T>GCA368986616CFTRc.2744T>G (p.Val915Gly)
c.*2458T>G (n.*2458T>G)
c.2561T>G (p.Val854Gly)
c.*1044T>G (n.*1044T>G)
c.*2568T>G (n.*2568T>G)
c.2318T>G (p.Val773Gly)
c.335T>G (p.Val112Gly)
c.394T>G
c.1526T>G (p.Val509Gly)
c.2654T>G (p.Val885Gly)
c.2834T>G (p.Val945Gly)
c.2501T>G (p.Val834Gly)
7g.117603619G>ACA457227944CFTRc.2745G>A (p.Val915=)
c.*2459G>A (n.*2459G>A)
c.2562G>A (p.Val854=)
c.*1045G>A (n.*1045G>A)
c.*2569G>A (n.*2569G>A)
c.2319G>A (p.Val773=)
c.336G>A (p.Val112=)
c.395G>A
c.1527G>A (p.Val509=)
c.2655G>A (p.Val885=)
c.2835G>A (p.Val945=)
c.2502G>A (p.Val834=)
 ClinVar dbSNP gnomAD v4
7g.117603619G>CCA457227945CFTRc.2745G>C (p.Val915=)
c.*2459G>C (n.*2459G>C)
c.2562G>C (p.Val854=)
c.*1045G>C (n.*1045G>C)
c.*2569G>C (n.*2569G>C)
c.2319G>C (p.Val773=)
c.336G>C (p.Val112=)
c.395G>C
c.1527G>C (p.Val509=)
c.2655G>C (p.Val885=)
c.2835G>C (p.Val945=)
c.2502G>C (p.Val834=)
7g.117603619G=CA1737374753CFTRc.2745G= (p.Val915=)
c.*2459G= (n.*2459G=)
c.2562G= (p.Val854=)
c.*1045G= (n.*1045G=)
c.*2569G= (n.*2569G=)
c.2319G= (p.Val773=)
c.336G= (p.Val112=)
c.395G=
c.1527G= (p.Val509=)
c.2655G= (p.Val885=)
c.2835G= (p.Val945=)
c.2502G= (p.Val834=)
7g.117603619G>TCA457227946CFTRc.2745G>T (p.Val915=)
c.*2459G>T (n.*2459G>T)
c.2562G>T (p.Val854=)
c.*1045G>T (n.*1045G>T)
c.*2569G>T (n.*2569G>T)
c.2319G>T (p.Val773=)
c.336G>T (p.Val112=)
c.395G>T
c.1527G>T (p.Val509=)
c.2655G>T (p.Val885=)
c.2835G>T (p.Val945=)
c.2502G>T (p.Val834=)
7g.117603620T>ACA368986621CFTRc.2746T>A (p.Phe916Ile)
c.*2460T>A (n.*2460T>A)
c.2563T>A (p.Phe855Ile)
c.*1046T>A (n.*1046T>A)
c.*2570T>A (n.*2570T>A)
c.2320T>A (p.Phe774Ile)
c.337T>A (p.Phe113Ile)
c.396T>A
c.1528T>A (p.Phe510Ile)
c.2656T>A (p.Phe886Ile)
c.2836T>A (p.Phe946Ile)
c.2503T>A (p.Phe835Ile)
 COSMIC
7g.117603620T>CCA368986618CFTRc.2746T>C (p.Phe916Leu)
c.*2460T>C (n.*2460T>C)
c.2563T>C (p.Phe855Leu)
c.*1046T>C (n.*1046T>C)
c.*2570T>C (n.*2570T>C)
c.2320T>C (p.Phe774Leu)
c.337T>C (p.Phe113Leu)
c.396T>C
c.1528T>C (p.Phe510Leu)
c.2656T>C (p.Phe886Leu)
c.2836T>C (p.Phe946Leu)
c.2503T>C (p.Phe835Leu)
7g.117603620T>GCA368986619CFTRc.2746T>G (p.Phe916Val)
c.*2460T>G (n.*2460T>G)
c.2563T>G (p.Phe855Val)
c.*1046T>G (n.*1046T>G)
c.*2570T>G (n.*2570T>G)
c.2320T>G (p.Phe774Val)
c.337T>G (p.Phe113Val)
c.396T>G
c.1528T>G (p.Phe510Val)
c.2656T>G (p.Phe886Val)
c.2836T>G (p.Phe946Val)
c.2503T>G (p.Phe835Val)
7g.117603621T>ACA368986622CFTRc.2747T>A (p.Phe916Tyr)
c.*2461T>A (n.*2461T>A)
c.2564T>A (p.Phe855Tyr)
c.*1047T>A (n.*1047T>A)
c.*2571T>A (n.*2571T>A)
c.2321T>A (p.Phe774Tyr)
c.338T>A (p.Phe113Tyr)
c.397T>A
c.1529T>A (p.Phe510Tyr)
c.2657T>A (p.Phe886Tyr)
c.2837T>A (p.Phe946Tyr)
c.2504T>A (p.Phe835Tyr)
 COSMIC
7g.117603621T>CCA368986623CFTRc.2747T>C (p.Phe916Ser)
c.*2461T>C (n.*2461T>C)
c.2564T>C (p.Phe855Ser)
c.*1047T>C (n.*1047T>C)
c.*2571T>C (n.*2571T>C)
c.2321T>C (p.Phe774Ser)
c.338T>C (p.Phe113Ser)
c.397T>C
c.1529T>C (p.Phe510Ser)
c.2657T>C (p.Phe886Ser)
c.2837T>C (p.Phe946Ser)
c.2504T>C (p.Phe835Ser)
7g.117603621T>GCA368986624CFTRc.2747T>G (p.Phe916Cys)
c.*2461T>G (n.*2461T>G)
c.2564T>G (p.Phe855Cys)
c.*1047T>G (n.*1047T>G)
c.*2571T>G (n.*2571T>G)
c.2321T>G (p.Phe774Cys)
c.338T>G (p.Phe113Cys)
c.397T>G
c.1529T>G (p.Phe510Cys)
c.2657T>G (p.Phe886Cys)
c.2837T>G (p.Phe946Cys)
c.2504T>G (p.Phe835Cys)
7g.117603622T>ACA368986627CFTRc.2748T>A (p.Phe916Leu)
c.*2462T>A (n.*2462T>A)
c.2565T>A (p.Phe855Leu)
c.*1048T>A (n.*1048T>A)
c.*2572T>A (n.*2572T>A)
c.2322T>A (p.Phe774Leu)
c.339T>A (p.Phe113Leu)
c.398T>A
c.1530T>A (p.Phe510Leu)
c.2658T>A (p.Phe886Leu)
c.2838T>A (p.Phe946Leu)
c.2505T>A (p.Phe835Leu)
7g.117603622T>CCA457227947CFTRc.2748T>C (p.Phe916=)
c.*2462T>C (n.*2462T>C)
c.2565T>C (p.Phe855=)
c.*1048T>C (n.*1048T>C)
c.*2572T>C (n.*2572T>C)
c.2322T>C (p.Phe774=)
c.339T>C (p.Phe113=)
c.398T>C
c.1530T>C (p.Phe510=)
c.2658T>C (p.Phe886=)
c.2838T>C (p.Phe946=)
c.2505T>C (p.Phe835=)
 dbSNP gnomAD v2 gnomAD v4
7g.117603622T>GCA368986628CFTRc.2748T>G (p.Phe916Leu)
c.*2462T>G (n.*2462T>G)
c.2565T>G (p.Phe855Leu)
c.*1048T>G (n.*1048T>G)
c.*2572T>G (n.*2572T>G)
c.2322T>G (p.Phe774Leu)
c.339T>G (p.Phe113Leu)
c.398T>G
c.1530T>G (p.Phe510Leu)
c.2658T>G (p.Phe886Leu)
c.2838T>G (p.Phe946Leu)
c.2505T>G (p.Phe835Leu)
7g.117603622T=CA1737374756CFTRc.2748T= (p.Phe916=)
c.*2462T= (n.*2462T=)
c.2565T= (p.Phe855=)
c.*1048T= (n.*1048T=)
c.*2572T= (n.*2572T=)
c.2322T= (p.Phe774=)
c.339T= (p.Phe113=)
c.398T=
c.1530T= (p.Phe510=)
c.2658T= (p.Phe886=)
c.2838T= (p.Phe946=)
c.2505T= (p.Phe835=)
7g.117603623T>ACA368986630CFTRc.2749T>A (p.Tyr917Asn)
c.*2463T>A (n.*2463T>A)
c.2566T>A (p.Tyr856Asn)
c.*1049T>A (n.*1049T>A)
c.*2573T>A (n.*2573T>A)
c.2323T>A (p.Tyr775Asn)
c.340T>A (p.Tyr114Asn)
c.399T>A
c.1531T>A (p.Tyr511Asn)
c.2659T>A (p.Tyr887Asn)
c.2839T>A (p.Tyr947Asn)
c.2506T>A (p.Tyr836Asn)
7g.117603623T>CCA368986629CFTRc.2749T>C (p.Tyr917His)
c.*2463T>C (n.*2463T>C)
c.2566T>C (p.Tyr856His)
c.*1049T>C (n.*1049T>C)
c.*2573T>C (n.*2573T>C)
c.2323T>C (p.Tyr775His)
c.340T>C (p.Tyr114His)
c.399T>C
c.1531T>C (p.Tyr511His)
c.2659T>C (p.Tyr887His)
c.2839T>C (p.Tyr947His)
c.2506T>C (p.Tyr836His)
 gnomAD v4
7g.117603623T>GCA326909CFTRc.2749T>G (p.Tyr917Asp)
c.*2463T>G (n.*2463T>G)
c.2566T>G (p.Tyr856Asp)
c.*1049T>G (n.*1049T>G)
c.*2573T>G (n.*2573T>G)
c.2323T>G (p.Tyr775Asp)
c.340T>G (p.Tyr114Asp)
c.399T>G
c.1531T>G (p.Tyr511Asp)
c.2659T>G (p.Tyr887Asp)
c.2839T>G (p.Tyr947Asp)
c.2506T>G (p.Tyr836Asp)
 dbSNP
7g.117603623T=CA1737374759CFTRc.2749T= (p.Tyr917=)
c.*2463T= (n.*2463T=)
c.2566T= (p.Tyr856=)
c.*1049T= (n.*1049T=)
c.*2573T= (n.*2573T=)
c.2323T= (p.Tyr775=)
c.340T= (p.Tyr114=)
c.399T=
c.1531T= (p.Tyr511=)
c.2659T= (p.Tyr887=)
c.2839T= (p.Tyr947=)
c.2506T= (p.Tyr836=)
7g.117603624A=CA1737374762CFTRc.2750A= (p.Tyr917=)
c.*2464A= (n.*2464A=)
c.2567A= (p.Tyr856=)
c.*1050A= (n.*1050A=)
c.*2574A= (n.*2574A=)
c.2324A= (p.Tyr775=)
c.341A= (p.Tyr114=)
c.400A=
c.1532A= (p.Tyr511=)
c.2660A= (p.Tyr887=)
c.2840A= (p.Tyr947=)
c.2507A= (p.Tyr836=)
7g.117603624A>CCA368986631CFTRc.2750A>C (p.Tyr917Ser)
c.*2464A>C (n.*2464A>C)
c.2567A>C (p.Tyr856Ser)
c.*1050A>C (n.*1050A>C)
c.*2574A>C (n.*2574A>C)
c.2324A>C (p.Tyr775Ser)
c.341A>C (p.Tyr114Ser)
c.400A>C
c.1532A>C (p.Tyr511Ser)
c.2660A>C (p.Tyr887Ser)
c.2840A>C (p.Tyr947Ser)
c.2507A>C (p.Tyr836Ser)
7g.117603624A>GCA326911CFTRc.2750A>G (p.Tyr917Cys)
c.*2464A>G (n.*2464A>G)
c.2567A>G (p.Tyr856Cys)
c.*1050A>G (n.*1050A>G)
c.*2574A>G (n.*2574A>G)
c.2324A>G (p.Tyr775Cys)
c.341A>G (p.Tyr114Cys)
c.400A>G
c.1532A>G (p.Tyr511Cys)
c.2660A>G (p.Tyr887Cys)
c.2840A>G (p.Tyr947Cys)
c.2507A>G (p.Tyr836Cys)
 ClinVar dbSNP
7g.117603624A>TCA368986633CFTRc.2750A>T (p.Tyr917Phe)
c.*2464A>T (n.*2464A>T)
c.2567A>T (p.Tyr856Phe)
c.*1050A>T (n.*1050A>T)
c.*2574A>T (n.*2574A>T)
c.2324A>T (p.Tyr775Phe)
c.341A>T (p.Tyr114Phe)
c.400A>T
c.1532A>T (p.Tyr511Phe)
c.2660A>T (p.Tyr887Phe)
c.2840A>T (p.Tyr947Phe)
c.2507A>T (p.Tyr836Phe)
7g.117603624_117603625insTTTTAGATATAGGATCA2562823202CFTRc.2750_2751insTTTTAGATATAGGAT (p.Tyr917_Ile918insPheArgTyrArgIle)
c.*2464_*2465insTTTTAGATATAGGAT (n.*2464_*2465insTTTTAGATATAGGAT)
c.2567_2568insTTTTAGATATAGGAT (p.Tyr856_Ile857insPheArgTyrArgIle)
c.*1050_*1051insTTTTAGATATAGGAT (n.*1050_*1051insTTTTAGATATAGGAT)
c.*2574_*2575insTTTTAGATATAGGAT (n.*2574_*2575insTTTTAGATATAGGAT)
c.2324_2325insTTTTAGATATAGGAT (p.Tyr775_Ile776insPheArgTyrArgIle)
c.341_342insTTTTAGATATAGGAT (p.Tyr114_Ile115insPheArgTyrArgIle)
c.400_401insTTTTAGATATAGGAT
c.1532_1533insTTTTAGATATAGGAT (p.Tyr511_Ile512insPheArgTyrArgIle)
c.2660_2661insTTTTAGATATAGGAT (p.Tyr887_Ile888insPheArgTyrArgIle)
c.2840_2841insTTTTAGATATAGGAT (p.Tyr947_Ile948insPheArgTyrArgIle)
c.2507_2508insTTTTAGATATAGGAT (p.Tyr836_Ile837insPheArgTyrArgIle)
7g.117603625C>ACA368986636CFTRc.2751C>A (p.Tyr917Ter)
c.*2465C>A (n.*2465C>A)
c.2568C>A (p.Tyr856Ter)
c.*1051C>A (n.*1051C>A)
c.*2575C>A (n.*2575C>A)
c.2325C>A (p.Tyr775Ter)
c.342C>A (p.Tyr114Ter)
c.401C>A
c.1533C>A (p.Tyr511Ter)
c.2661C>A (p.Tyr887Ter)
c.2841C>A (p.Tyr947Ter)
c.2508C>A (p.Tyr836Ter)
7g.117603625C=CA1737374767CFTRc.2751C= (p.Tyr917=)
c.*2465C= (n.*2465C=)
c.2568C= (p.Tyr856=)
c.*1051C= (n.*1051C=)
c.*2575C= (n.*2575C=)
c.2325C= (p.Tyr775=)
c.342C= (p.Tyr114=)
c.401C=
c.1533C= (p.Tyr511=)
c.2661C= (p.Tyr887=)
c.2841C= (p.Tyr947=)
c.2508C= (p.Tyr836=)
7g.117603625C>GCA368986638CFTRc.2751C>G (p.Tyr917Ter)
c.*2465C>G (n.*2465C>G)
c.2568C>G (p.Tyr856Ter)
c.*1051C>G (n.*1051C>G)
c.*2575C>G (n.*2575C>G)
c.2325C>G (p.Tyr775Ter)
c.342C>G (p.Tyr114Ter)
c.401C>G
c.1533C>G (p.Tyr511Ter)
c.2661C>G (p.Tyr887Ter)
c.2841C>G (p.Tyr947Ter)
c.2508C>G (p.Tyr836Ter)
7g.117603625C>TCA457227948CFTRc.2751C>T (p.Tyr917=)
c.*2465C>T (n.*2465C>T)
c.2568C>T (p.Tyr856=)
c.*1051C>T (n.*1051C>T)
c.*2575C>T (n.*2575C>T)
c.2325C>T (p.Tyr775=)
c.342C>T (p.Tyr114=)
c.401C>T
c.1533C>T (p.Tyr511=)
c.2661C>T (p.Tyr887=)
c.2841C>T (p.Tyr947=)
c.2508C>T (p.Tyr836=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603626A=CA1737374783CFTRc.2752A= (p.Ile918=)
c.*2466A= (n.*2466A=)
c.2569A= (p.Ile857=)
c.*1052A= (n.*1052A=)
c.*2576A= (n.*2576A=)
c.2326A= (p.Ile776=)
c.343A= (p.Ile115=)
c.402A=
c.1534A= (p.Ile512=)
c.2662A= (p.Ile888=)
c.2842A= (p.Ile948=)
c.2509A= (p.Ile837=)
7g.117603626A>CCA368986642CFTRc.2752A>C (p.Ile918Leu)
c.*2466A>C (n.*2466A>C)
c.2569A>C (p.Ile857Leu)
c.*1052A>C (n.*1052A>C)
c.*2576A>C (n.*2576A>C)
c.2326A>C (p.Ile776Leu)
c.343A>C (p.Ile115Leu)
c.402A>C
c.1534A>C (p.Ile512Leu)
c.2662A>C (p.Ile888Leu)
c.2842A>C (p.Ile948Leu)
c.2509A>C (p.Ile837Leu)
 ClinVar
7g.117603626A>GCA368986644CFTRc.2752A>G (p.Ile918Val)
c.*2466A>G (n.*2466A>G)
c.2569A>G (p.Ile857Val)
c.*1052A>G (n.*1052A>G)
c.*2576A>G (n.*2576A>G)
c.2326A>G (p.Ile776Val)
c.343A>G (p.Ile115Val)
c.402A>G
c.1534A>G (p.Ile512Val)
c.2662A>G (p.Ile888Val)
c.2842A>G (p.Ile948Val)
c.2509A>G (p.Ile837Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603626A>TCA368986646CFTRc.2752A>T (p.Ile918Phe)
c.*2466A>T (n.*2466A>T)
c.2569A>T (p.Ile857Phe)
c.*1052A>T (n.*1052A>T)
c.*2576A>T (n.*2576A>T)
c.2326A>T (p.Ile776Phe)
c.343A>T (p.Ile115Phe)
c.402A>T
c.1534A>T (p.Ile512Phe)
c.2662A>T (p.Ile888Phe)
c.2842A>T (p.Ile948Phe)
c.2509A>T (p.Ile837Phe)
 ClinVar dbSNP
7g.117603627T>ACA368986649CFTRc.2753T>A (p.Ile918Asn)
c.*2467T>A (n.*2467T>A)
c.2570T>A (p.Ile857Asn)
c.*1053T>A (n.*1053T>A)
c.*2577T>A (n.*2577T>A)
c.2327T>A (p.Ile776Asn)
c.344T>A (p.Ile115Asn)
c.403T>A
c.1535T>A (p.Ile512Asn)
c.2663T>A (p.Ile888Asn)
c.2843T>A (p.Ile948Asn)
c.2510T>A (p.Ile837Asn)
7g.117603627T>CCA368986653CFTRc.2753T>C (p.Ile918Thr)
c.*2467T>C (n.*2467T>C)
c.2570T>C (p.Ile857Thr)
c.*1053T>C (n.*1053T>C)
c.*2577T>C (n.*2577T>C)
c.2327T>C (p.Ile776Thr)
c.344T>C (p.Ile115Thr)
c.403T>C
c.1535T>C (p.Ile512Thr)
c.2663T>C (p.Ile888Thr)
c.2843T>C (p.Ile948Thr)
c.2510T>C (p.Ile837Thr)
 gnomAD v4
7g.117603627T>GCA368986651CFTRc.2753T>G (p.Ile918Ser)
c.*2467T>G (n.*2467T>G)
c.2570T>G (p.Ile857Ser)
c.*1053T>G (n.*1053T>G)
c.*2577T>G (n.*2577T>G)
c.2327T>G (p.Ile776Ser)
c.344T>G (p.Ile115Ser)
c.403T>G
c.1535T>G (p.Ile512Ser)
c.2663T>G (p.Ile888Ser)
c.2843T>G (p.Ile948Ser)
c.2510T>G (p.Ile837Ser)
7g.117603629delCA2695199620CFTRc.2755del (p.Tyr919ThrfsTer4)
c.*2469del (n.*2469del)
c.2572del (p.Tyr858ThrfsTer4)
c.*1055del (n.*1055del)
c.*2579del (n.*2579del)
c.2329del (p.Tyr777ThrfsTer4)
c.346del (p.Tyr116ThrfsTer4)
c.405del
c.1537del (p.Tyr513ThrfsTer4)
c.2665del (p.Tyr889ThrfsTer4)
c.2845del (p.Tyr949ThrfsTer4)
c.2512del (p.Tyr838ThrfsTer4)
 ClinVar
7g.117603628T>ACA457227949CFTRc.2754T>A (p.Ile918=)
c.*2468T>A (n.*2468T>A)
c.2571T>A (p.Ile857=)
c.*1054T>A (n.*1054T>A)
c.*2578T>A (n.*2578T>A)
c.2328T>A (p.Ile776=)
c.345T>A (p.Ile115=)
c.404T>A
c.1536T>A (p.Ile512=)
c.2664T>A (p.Ile888=)
c.2844T>A (p.Ile948=)
c.2511T>A (p.Ile837=)
7g.117603628T>CCA457227950CFTRc.2754T>C (p.Ile918=)
c.*2468T>C (n.*2468T>C)
c.2571T>C (p.Ile857=)
c.*1054T>C (n.*1054T>C)
c.*2578T>C (n.*2578T>C)
c.2328T>C (p.Ile776=)
c.345T>C (p.Ile115=)
c.404T>C
c.1536T>C (p.Ile512=)
c.2664T>C (p.Ile888=)
c.2844T>C (p.Ile948=)
c.2511T>C (p.Ile837=)
7g.117603628T>GCA326912CFTRc.2754T>G (p.Ile918Met)
c.*2468T>G (n.*2468T>G)
c.2571T>G (p.Ile857Met)
c.*1054T>G (n.*1054T>G)
c.*2578T>G (n.*2578T>G)
c.2328T>G (p.Ile776Met)
c.345T>G (p.Ile115Met)
c.404T>G
c.1536T>G (p.Ile512Met)
c.2664T>G (p.Ile888Met)
c.2844T>G (p.Ile948Met)
c.2511T>G (p.Ile837Met)
 ClinVar dbSNP
7g.117603628T=CA1737374806CFTRc.2754T= (p.Ile918=)
c.*2468T= (n.*2468T=)
c.2571T= (p.Ile857=)
c.*1054T= (n.*1054T=)
c.*2578T= (n.*2578T=)
c.2328T= (p.Ile776=)
c.345T= (p.Ile115=)
c.404T=
c.1536T= (p.Ile512=)
c.2664T= (p.Ile888=)
c.2844T= (p.Ile948=)
c.2511T= (p.Ile837=)
7g.117603629T>ACA164960117CFTRc.2755T>A (p.Tyr919Asn)
c.*2469T>A (n.*2469T>A)
c.2572T>A (p.Tyr858Asn)
c.*1055T>A (n.*1055T>A)
c.*2579T>A (n.*2579T>A)
c.2329T>A (p.Tyr777Asn)
c.346T>A (p.Tyr116Asn)
c.405T>A
c.1537T>A (p.Tyr513Asn)
c.2665T>A (p.Tyr889Asn)
c.2845T>A (p.Tyr949Asn)
c.2512T>A (p.Tyr838Asn)
 ClinVar dbSNP gnomAD v4
7g.117603629T>CCA368986659CFTRc.2755T>C (p.Tyr919His)
c.*2469T>C (n.*2469T>C)
c.2572T>C (p.Tyr858His)
c.*1055T>C (n.*1055T>C)
c.*2579T>C (n.*2579T>C)
c.2329T>C (p.Tyr777His)
c.346T>C (p.Tyr116His)
c.405T>C
c.1537T>C (p.Tyr513His)
c.2665T>C (p.Tyr889His)
c.2845T>C (p.Tyr949His)
c.2512T>C (p.Tyr838His)
7g.117603629T>GCA368986661CFTRc.2755T>G (p.Tyr919Asp)
c.*2469T>G (n.*2469T>G)
c.2572T>G (p.Tyr858Asp)
c.*1055T>G (n.*1055T>G)
c.*2579T>G (n.*2579T>G)
c.2329T>G (p.Tyr777Asp)
c.346T>G (p.Tyr116Asp)
c.405T>G
c.1537T>G (p.Tyr513Asp)
c.2665T>G (p.Tyr889Asp)
c.2845T>G (p.Tyr949Asp)
c.2512T>G (p.Tyr838Asp)
7g.117603629T=CA1737374811CFTRc.2755T= (p.Tyr919=)
c.*2469T= (n.*2469T=)
c.2572T= (p.Tyr858=)
c.*1055T= (n.*1055T=)
c.*2579T= (n.*2579T=)
c.2329T= (p.Tyr777=)
c.346T= (p.Tyr116=)
c.405T=
c.1537T= (p.Tyr513=)
c.2665T= (p.Tyr889=)
c.2845T= (p.Tyr949=)
c.2512T= (p.Tyr838=)
7g.117603630A=CA1737374819CFTRc.2756A= (p.Tyr919=)
c.*2470A= (n.*2470A=)
c.2573A= (p.Tyr858=)
c.*1056A= (n.*1056A=)
c.*2580A= (n.*2580A=)
c.2330A= (p.Tyr777=)
c.347A= (p.Tyr116=)
c.406A=
c.1538A= (p.Tyr513=)
c.2666A= (p.Tyr889=)
c.2846A= (p.Tyr949=)
c.2513A= (p.Tyr838=)
7g.117603630A>CCA368986664CFTRc.2756A>C (p.Tyr919Ser)
c.*2470A>C (n.*2470A>C)
c.2573A>C (p.Tyr858Ser)
c.*1056A>C (n.*1056A>C)
c.*2580A>C (n.*2580A>C)
c.2330A>C (p.Tyr777Ser)
c.347A>C (p.Tyr116Ser)
c.406A>C
c.1538A>C (p.Tyr513Ser)
c.2666A>C (p.Tyr889Ser)
c.2846A>C (p.Tyr949Ser)
c.2513A>C (p.Tyr838Ser)
7g.117603630A>GCA326914CFTRc.2756A>G (p.Tyr919Cys)
c.*2470A>G (n.*2470A>G)
c.2573A>G (p.Tyr858Cys)
c.*1056A>G (n.*1056A>G)
c.*2580A>G (n.*2580A>G)
c.2330A>G (p.Tyr777Cys)
c.347A>G (p.Tyr116Cys)
c.406A>G
c.1538A>G (p.Tyr513Cys)
c.2666A>G (p.Tyr889Cys)
c.2846A>G (p.Tyr949Cys)
c.2513A>G (p.Tyr838Cys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603630A>TCA368986666CFTRc.2756A>T (p.Tyr919Phe)
c.*2470A>T (n.*2470A>T)
c.2573A>T (p.Tyr858Phe)
c.*1056A>T (n.*1056A>T)
c.*2580A>T (n.*2580A>T)
c.2330A>T (p.Tyr777Phe)
c.347A>T (p.Tyr116Phe)
c.406A>T
c.1538A>T (p.Tyr513Phe)
c.2666A>T (p.Tyr889Phe)
c.2846A>T (p.Tyr949Phe)
c.2513A>T (p.Tyr838Phe)
7g.117603631C>ACA368986669CFTRc.2757C>A (p.Tyr919Ter)
c.*2471C>A (n.*2471C>A)
c.2574C>A (p.Tyr858Ter)
c.*1057C>A (n.*1057C>A)
c.*2581C>A (n.*2581C>A)
c.2331C>A (p.Tyr777Ter)
c.348C>A (p.Tyr116Ter)
c.407C>A
c.1539C>A (p.Tyr513Ter)
c.2667C>A (p.Tyr889Ter)
c.2847C>A (p.Tyr949Ter)
c.2514C>A (p.Tyr838Ter)
 ClinVar dbSNP
7g.117603631C=CA1737374837CFTRc.2757C= (p.Tyr919=)
c.*2471C= (n.*2471C=)
c.2574C= (p.Tyr858=)
c.*1057C= (n.*1057C=)
c.*2581C= (n.*2581C=)
c.2331C= (p.Tyr777=)
c.348C= (p.Tyr116=)
c.407C=
c.1539C= (p.Tyr513=)
c.2667C= (p.Tyr889=)
c.2847C= (p.Tyr949=)
c.2514C= (p.Tyr838=)
7g.117603631C>GCA368986670CFTRc.2757C>G (p.Tyr919Ter)
c.*2471C>G (n.*2471C>G)
c.2574C>G (p.Tyr858Ter)
c.*1057C>G (n.*1057C>G)
c.*2581C>G (n.*2581C>G)
c.2331C>G (p.Tyr777Ter)
c.348C>G (p.Tyr116Ter)
c.407C>G
c.1539C>G (p.Tyr513Ter)
c.2667C>G (p.Tyr889Ter)
c.2847C>G (p.Tyr949Ter)
c.2514C>G (p.Tyr838Ter)
 ClinVar dbSNP
7g.117603631C>TCA457227951CFTRc.2757C>T (p.Tyr919=)
c.*2471C>T (n.*2471C>T)
c.2574C>T (p.Tyr858=)
c.*1057C>T (n.*1057C>T)
c.*2581C>T (n.*2581C>T)
c.2331C>T (p.Tyr777=)
c.348C>T (p.Tyr116=)
c.407C>T
c.1539C>T (p.Tyr513=)
c.2667C>T (p.Tyr889=)
c.2847C>T (p.Tyr949=)
c.2514C>T (p.Tyr838=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603632G>ACA326916CFTRc.2758G>A (p.Val920Met)
c.*2472G>A (n.*2472G>A)
c.2575G>A (p.Val859Met)
c.*1058G>A (n.*1058G>A)
c.*2582G>A (n.*2582G>A)
c.2332G>A (p.Val778Met)
c.349G>A (p.Val117Met)
c.408G>A
c.1540G>A (p.Val514Met)
c.2668G>A (p.Val890Met)
c.2848G>A (p.Val950Met)
c.2515G>A (p.Val839Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603632G>CCA368986672CFTRc.2758G>C (p.Val920Leu)
c.*2472G>C (n.*2472G>C)
c.2575G>C (p.Val859Leu)
c.*1058G>C (n.*1058G>C)
c.*2582G>C (n.*2582G>C)
c.2332G>C (p.Val778Leu)
c.349G>C (p.Val117Leu)
c.408G>C
c.1540G>C (p.Val514Leu)
c.2668G>C (p.Val890Leu)
c.2848G>C (p.Val950Leu)
c.2515G>C (p.Val839Leu)
 ClinVar
7g.117603632G=CA1737374860CFTRc.2758G= (p.Val920=)
c.*2472G= (n.*2472G=)
c.2575G= (p.Val859=)
c.*1058G= (n.*1058G=)
c.*2582G= (n.*2582G=)
c.2332G= (p.Val778=)
c.349G= (p.Val117=)
c.408G=
c.1540G= (p.Val514=)
c.2668G= (p.Val890=)
c.2848G= (p.Val950=)
c.2515G= (p.Val839=)
7g.117603632G>TCA326918CFTRc.2758G>T (p.Val920Leu)
c.*2472G>T (n.*2472G>T)
c.2575G>T (p.Val859Leu)
c.*1058G>T (n.*1058G>T)
c.*2582G>T (n.*2582G>T)
c.2332G>T (p.Val778Leu)
c.349G>T (p.Val117Leu)
c.408G>T
c.1540G>T (p.Val514Leu)
c.2668G>T (p.Val890Leu)
c.2848G>T (p.Val950Leu)
c.2515G>T (p.Val839Leu)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603633T>ACA368986675CFTRc.2759T>A (p.Val920Glu)
c.*2473T>A (n.*2473T>A)
c.2576T>A (p.Val859Glu)
c.*1059T>A (n.*1059T>A)
c.*2583T>A (n.*2583T>A)
c.2333T>A (p.Val778Glu)
c.350T>A (p.Val117Glu)
c.409T>A
c.1541T>A (p.Val514Glu)
c.2669T>A (p.Val890Glu)
c.2849T>A (p.Val950Glu)
c.2516T>A (p.Val839Glu)
7g.117603633T>CCA368986677CFTRc.2759T>C (p.Val920Ala)
c.*2473T>C (n.*2473T>C)
c.2576T>C (p.Val859Ala)
c.*1059T>C (n.*1059T>C)
c.*2583T>C (n.*2583T>C)
c.2333T>C (p.Val778Ala)
c.350T>C (p.Val117Ala)
c.409T>C
c.1541T>C (p.Val514Ala)
c.2669T>C (p.Val890Ala)
c.2849T>C (p.Val950Ala)
c.2516T>C (p.Val839Ala)
7g.117603633T>GCA368986679CFTRc.2759T>G (p.Val920Gly)
c.*2473T>G (n.*2473T>G)
c.2576T>G (p.Val859Gly)
c.*1059T>G (n.*1059T>G)
c.*2583T>G (n.*2583T>G)
c.2333T>G (p.Val778Gly)
c.350T>G (p.Val117Gly)
c.409T>G
c.1541T>G (p.Val514Gly)
c.2669T>G (p.Val890Gly)
c.2849T>G (p.Val950Gly)
c.2516T>G (p.Val839Gly)
 dbSNP
7g.117603633T=CA1737374873CFTRc.2759T= (p.Val920=)
c.*2473T= (n.*2473T=)
c.2576T= (p.Val859=)
c.*1059T= (n.*1059T=)
c.*2583T= (n.*2583T=)
c.2333T= (p.Val778=)
c.350T= (p.Val117=)
c.409T=
c.1541T= (p.Val514=)
c.2669T= (p.Val890=)
c.2849T= (p.Val950=)
c.2516T= (p.Val839=)
7g.117603633_117603634delinsTGCA1737374874CFTRc.2759_2760delinsTG (p.Val920=)
c.*2473_*2474delinsTG (n.*2473_*2474delinsTG)
c.2576_2577delinsTG (p.Val859=)
c.*1059_*1060delinsTG (n.*1059_*1060delinsTG)
c.*2583_*2584delinsTG (n.*2583_*2584delinsTG)
c.2333_2334delinsTG (p.Val778=)
c.350_351delinsTG (p.Val117=)
c.409_410delinsTG
c.1541_1542delinsTG (p.Val514=)
c.2669_2670delinsTG (p.Val890=)
c.2849_2850delinsTG (p.Val950=)
c.2516_2517delinsTG (p.Val839=)
7g.117603634G>ACA457227952CFTRc.2760G>A (p.Val920=)
c.*2474G>A (n.*2474G>A)
c.2577G>A (p.Val859=)
c.*1060G>A (n.*1060G>A)
c.*2584G>A (n.*2584G>A)
c.2334G>A (p.Val778=)
c.351G>A (p.Val117=)
c.410G>A
c.1542G>A (p.Val514=)
c.2670G>A (p.Val890=)
c.2850G>A (p.Val950=)
c.2517G>A (p.Val839=)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117603634G>CCA457227953CFTRc.2760G>C (p.Val920=)
c.*2474G>C (n.*2474G>C)
c.2577G>C (p.Val859=)
c.*1060G>C (n.*1060G>C)
c.*2584G>C (n.*2584G>C)
c.2334G>C (p.Val778=)
c.351G>C (p.Val117=)
c.410G>C
c.1542G>C (p.Val514=)
c.2670G>C (p.Val890=)
c.2850G>C (p.Val950=)
c.2517G>C (p.Val839=)
7g.117603634G=CA1737374882CFTRc.2760G= (p.Val920=)
c.*2474G= (n.*2474G=)
c.2577G= (p.Val859=)
c.*1060G= (n.*1060G=)
c.*2584G= (n.*2584G=)
c.2334G= (p.Val778=)
c.351G= (p.Val117=)
c.410G=
c.1542G= (p.Val514=)
c.2670G= (p.Val890=)
c.2850G= (p.Val950=)
c.2517G= (p.Val839=)
7g.117603634G>TCA457227954CFTRc.2760G>T (p.Val920=)
c.*2474G>T (n.*2474G>T)
c.2577G>T (p.Val859=)
c.*1060G>T (n.*1060G>T)
c.*2584G>T (n.*2584G>T)
c.2334G>T (p.Val778=)
c.351G>T (p.Val117=)
c.410G>T
c.1542G>T (p.Val514=)
c.2670G>T (p.Val890=)
c.2850G>T (p.Val950=)
c.2517G>T (p.Val839=)
7g.117603636dupCA1737374883CFTRc.2762dup (p.Val922SerfsTer?)
c.*2476dup (n.*2476dup)
c.2579dup (p.Val861SerfsTer?)
c.*1062dup (n.*1062dup)
c.*2586dup (n.*2586dup)
c.2336dup (p.Val780SerfsTer?)
c.353dup (p.Val119SerfsTer?)
c.412dup
c.1544dup (p.Val516SerfsTer?)
c.2672dup (p.Val892SerfsTer?)
c.2852dup (p.Val952SerfsTer?)
c.2519dup (p.Val841SerfsTer?)
 dbSNP
7g.117603636delCA4451283CFTRc.2762del (p.Gly921GlufsTer2)
c.*2476del (n.*2476del)
c.2579del (p.Gly860GlufsTer2)
c.*1062del (n.*1062del)
c.*2586del (n.*2586del)
c.2336del (p.Gly779GlufsTer2)
c.353del (p.Gly118GlufsTer2)
c.412del
c.1544del (p.Gly515GlufsTer2)
c.2672del (p.Gly891GlufsTer2)
c.2852del (p.Gly951GlufsTer2)
c.2519del (p.Gly840GlufsTer2)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603635G>ACA4451284CFTRc.2761G>A (p.Gly921Arg)
c.*2475G>A (n.*2475G>A)
c.2578G>A (p.Gly860Arg)
c.*1061G>A (n.*1061G>A)
c.*2585G>A (n.*2585G>A)
c.2335G>A (p.Gly779Arg)
c.352G>A (p.Gly118Arg)
c.411G>A
c.1543G>A (p.Gly515Arg)
c.2671G>A (p.Gly891Arg)
c.2851G>A (p.Gly951Arg)
c.2518G>A (p.Gly840Arg)
 dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603635G>CCA368986680CFTRc.2761G>C (p.Gly921Arg)
c.*2475G>C (n.*2475G>C)
c.2578G>C (p.Gly860Arg)
c.*1061G>C (n.*1061G>C)
c.*2585G>C (n.*2585G>C)
c.2335G>C (p.Gly779Arg)
c.352G>C (p.Gly118Arg)
c.411G>C
c.1543G>C (p.Gly515Arg)
c.2671G>C (p.Gly891Arg)
c.2851G>C (p.Gly951Arg)
c.2518G>C (p.Gly840Arg)
7g.117603635G=CA1737374888CFTRc.2761G= (p.Gly921=)
c.*2475G= (n.*2475G=)
c.2578G= (p.Gly860=)
c.*1061G= (n.*1061G=)
c.*2585G= (n.*2585G=)
c.2335G= (p.Gly779=)
c.352G= (p.Gly118=)
c.411G=
c.1543G= (p.Gly515=)
c.2671G= (p.Gly891=)
c.2851G= (p.Gly951=)
c.2518G= (p.Gly840=)
7g.117603635G>TCA368986681CFTRc.2761G>T (p.Gly921Ter)
c.*2475G>T (n.*2475G>T)
c.2578G>T (p.Gly860Ter)
c.*1061G>T (n.*1061G>T)
c.*2585G>T (n.*2585G>T)
c.2335G>T (p.Gly779Ter)
c.352G>T (p.Gly118Ter)
c.411G>T
c.1543G>T (p.Gly515Ter)
c.2671G>T (p.Gly891Ter)
c.2851G>T (p.Gly951Ter)
c.2518G>T (p.Gly840Ter)
7g.117603636G>ACA260220CFTRc.2762G>A (p.Gly921Glu)
c.*2476G>A (n.*2476G>A)
c.2579G>A (p.Gly860Glu)
c.*1062G>A (n.*1062G>A)
c.*2586G>A (n.*2586G>A)
c.2336G>A (p.Gly779Glu)
c.353G>A (p.Gly118Glu)
c.412G>A
c.1544G>A (p.Gly515Glu)
c.2672G>A (p.Gly891Glu)
c.2852G>A (p.Gly951Glu)
c.2519G>A (p.Gly840Glu)
 ClinVar dbSNP gnomAD v2 COSMIC
7g.117603636G>CCA368986682CFTRc.2762G>C (p.Gly921Ala)
c.*2476G>C (n.*2476G>C)
c.2579G>C (p.Gly860Ala)
c.*1062G>C (n.*1062G>C)
c.*2586G>C (n.*2586G>C)
c.2336G>C (p.Gly779Ala)
c.353G>C (p.Gly118Ala)
c.412G>C
c.1544G>C (p.Gly515Ala)
c.2672G>C (p.Gly891Ala)
c.2852G>C (p.Gly951Ala)
c.2519G>C (p.Gly840Ala)
 gnomAD v4
7g.117603636G=CA1737374898CFTRc.2762G= (p.Gly921=)
c.*2476G= (n.*2476G=)
c.2579G= (p.Gly860=)
c.*1062G= (n.*1062G=)
c.*2586G= (n.*2586G=)
c.2336G= (p.Gly779=)
c.353G= (p.Gly118=)
c.412G=
c.1544G= (p.Gly515=)
c.2672G= (p.Gly891=)
c.2852G= (p.Gly951=)
c.2519G= (p.Gly840=)
7g.117603636G>TCA368986685CFTRc.2762G>T (p.Gly921Val)
c.*2476G>T (n.*2476G>T)
c.2579G>T (p.Gly860Val)
c.*1062G>T (n.*1062G>T)
c.*2586G>T (n.*2586G>T)
c.2336G>T (p.Gly779Val)
c.353G>T (p.Gly118Val)
c.412G>T
c.1544G>T (p.Gly515Val)
c.2672G>T (p.Gly891Val)
c.2852G>T (p.Gly951Val)
c.2519G>T (p.Gly840Val)
 ClinVar dbSNP
7g.117603637_117603638dupCA326920CFTRc.2763_2764dup (p.Val922GlufsTer2)
c.*2477_*2478dup (n.*2477_*2478dup)
c.2580_2581dup (p.Val861GlufsTer2)
c.*1063_*1064dup (n.*1063_*1064dup)
c.*2587_*2588dup (n.*2587_*2588dup)
c.2337_2338dup (p.Val780GlufsTer2)
c.354_355dup (p.Val119GlufsTer2)
c.413_414dup
c.1545_1546dup (p.Val516GlufsTer2)
c.2673_2674dup (p.Val892GlufsTer2)
c.2853_2854dup (p.Val952GlufsTer2)
c.2520_2521dup (p.Val841GlufsTer2)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603637A>CCA457227955CFTRc.2763A>C (p.Gly921=)
c.*2477A>C (n.*2477A>C)
c.2580A>C (p.Gly860=)
c.*1063A>C (n.*1063A>C)
c.*2587A>C (n.*2587A>C)
c.2337A>C (p.Gly779=)
c.354A>C (p.Gly118=)
c.413A>C
c.1545A>C (p.Gly515=)
c.2673A>C (p.Gly891=)
c.2853A>C (p.Gly951=)
c.2520A>C (p.Gly840=)
7g.117603637A>GCA457227956CFTRc.2763A>G (p.Gly921=)
c.*2477A>G (n.*2477A>G)
c.2580A>G (p.Gly860=)
c.*1063A>G (n.*1063A>G)
c.*2587A>G (n.*2587A>G)
c.2337A>G (p.Gly779=)
c.354A>G (p.Gly118=)
c.413A>G
c.1545A>G (p.Gly515=)
c.2673A>G (p.Gly891=)
c.2853A>G (p.Gly951=)
c.2520A>G (p.Gly840=)
7g.117603637A>TCA457227957CFTRc.2763A>T (p.Gly921=)
c.*2477A>T (n.*2477A>T)
c.2580A>T (p.Gly860=)
c.*1063A>T (n.*1063A>T)
c.*2587A>T (n.*2587A>T)
c.2337A>T (p.Gly779=)
c.354A>T (p.Gly118=)
c.413A>T
c.1545A>T (p.Gly515=)
c.2673A>T (p.Gly891=)
c.2853A>T (p.Gly951=)
c.2520A>T (p.Gly840=)
7g.117603638G>ACA368986694CFTRc.2764G>A (p.Val922Ile)
c.*2478G>A (n.*2478G>A)
c.2581G>A (p.Val861Ile)
c.*1064G>A (n.*1064G>A)
c.*2588G>A (n.*2588G>A)
c.2338G>A (p.Val780Ile)
c.355G>A (p.Val119Ile)
c.414G>A
c.1546G>A (p.Val516Ile)
c.2674G>A (p.Val892Ile)
c.2854G>A (p.Val952Ile)
c.2521G>A (p.Val841Ile)
 ClinVar dbSNP COSMIC
7g.117603638G>CCA368986689CFTRc.2764G>C (p.Val922Leu)
c.*2478G>C (n.*2478G>C)
c.2581G>C (p.Val861Leu)
c.*1064G>C (n.*1064G>C)
c.*2588G>C (n.*2588G>C)
c.2338G>C (p.Val780Leu)
c.355G>C (p.Val119Leu)
c.414G>C
c.1546G>C (p.Val516Leu)
c.2674G>C (p.Val892Leu)
c.2854G>C (p.Val952Leu)
c.2521G>C (p.Val841Leu)
 ClinVar gnomAD v4
7g.117603638G=CA1737374900CFTRc.2764G= (p.Val922=)
c.*2478G= (n.*2478G=)
c.2581G= (p.Val861=)
c.*1064G= (n.*1064G=)
c.*2588G= (n.*2588G=)
c.2338G= (p.Val780=)
c.355G= (p.Val119=)
c.414G=
c.1546G= (p.Val516=)
c.2674G= (p.Val892=)
c.2854G= (p.Val952=)
c.2521G= (p.Val841=)
7g.117603638G>TCA368986692CFTRc.2764G>T (p.Val922Leu)
c.*2478G>T (n.*2478G>T)
c.2581G>T (p.Val861Leu)
c.*1064G>T (n.*1064G>T)
c.*2588G>T (n.*2588G>T)
c.2338G>T (p.Val780Leu)
c.355G>T (p.Val119Leu)
c.414G>T
c.1546G>T (p.Val516Leu)
c.2674G>T (p.Val892Leu)
c.2854G>T (p.Val952Leu)
c.2521G>T (p.Val841Leu)
7g.117603639T>ACA368986697CFTRc.2765T>A (p.Val922Glu)
c.*2479T>A (n.*2479T>A)
c.2582T>A (p.Val861Glu)
c.*1065T>A (n.*1065T>A)
c.*2589T>A (n.*2589T>A)
c.2339T>A (p.Val780Glu)
c.356T>A (p.Val119Glu)
c.415T>A
c.1547T>A (p.Val516Glu)
c.2675T>A (p.Val892Glu)
c.2855T>A (p.Val952Glu)
c.2522T>A (p.Val841Glu)
7g.117603639T>CCA368986699CFTRc.2765T>C (p.Val922Ala)
c.*2479T>C (n.*2479T>C)
c.2582T>C (p.Val861Ala)
c.*1065T>C (n.*1065T>C)
c.*2589T>C (n.*2589T>C)
c.2339T>C (p.Val780Ala)
c.356T>C (p.Val119Ala)
c.415T>C
c.1547T>C (p.Val516Ala)
c.2675T>C (p.Val892Ala)
c.2855T>C (p.Val952Ala)
c.2522T>C (p.Val841Ala)
7g.117603639T>GCA368986702CFTRc.2765T>G (p.Val922Gly)
c.*2479T>G (n.*2479T>G)
c.2582T>G (p.Val861Gly)
c.*1065T>G (n.*1065T>G)
c.*2589T>G (n.*2589T>G)
c.2339T>G (p.Val780Gly)
c.356T>G (p.Val119Gly)
c.415T>G
c.1547T>G (p.Val516Gly)
c.2675T>G (p.Val892Gly)
c.2855T>G (p.Val952Gly)
c.2522T>G (p.Val841Gly)
 dbSNP gnomAD v2 gnomAD v4
7g.117603639T=CA1737374907CFTRc.2765T= (p.Val922=)
c.*2479T= (n.*2479T=)
c.2582T= (p.Val861=)
c.*1065T= (n.*1065T=)
c.*2589T= (n.*2589T=)
c.2339T= (p.Val780=)
c.356T= (p.Val119=)
c.415T=
c.1547T= (p.Val516=)
c.2675T= (p.Val892=)
c.2855T= (p.Val952=)
c.2522T= (p.Val841=)
7g.117603640A=CA1737374915CFTRc.2766A= (p.Val922=)
c.*2480A= (n.*2480A=)
c.2583A= (p.Val861=)
c.*1066A= (n.*1066A=)
c.*2590A= (n.*2590A=)
c.2340A= (p.Val780=)
c.357A= (p.Val119=)
c.416A=
c.1548A= (p.Val516=)
c.2676A= (p.Val892=)
c.2856A= (p.Val952=)
c.2523A= (p.Val841=)
7g.117603640A>CCA457227958CFTRc.2766A>C (p.Val922=)
c.*2480A>C (n.*2480A>C)
c.2583A>C (p.Val861=)
c.*1066A>C (n.*1066A>C)
c.*2590A>C (n.*2590A>C)
c.2340A>C (p.Val780=)
c.357A>C (p.Val119=)
c.416A>C
c.1548A>C (p.Val516=)
c.2676A>C (p.Val892=)
c.2856A>C (p.Val952=)
c.2523A>C (p.Val841=)
7g.117603640A>GCA4451285CFTRc.2766A>G (p.Val922=)
c.*2480A>G (n.*2480A>G)
c.2583A>G (p.Val861=)
c.*1066A>G (n.*1066A>G)
c.*2590A>G (n.*2590A>G)
c.2340A>G (p.Val780=)
c.357A>G (p.Val119=)
c.416A>G
c.1548A>G (p.Val516=)
c.2676A>G (p.Val892=)
c.2856A>G (p.Val952=)
c.2523A>G (p.Val841=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603640A>TCA457227959CFTRc.2766A>T (p.Val922=)
c.*2480A>T (n.*2480A>T)
c.2583A>T (p.Val861=)
c.*1066A>T (n.*1066A>T)
c.*2590A>T (n.*2590A>T)
c.2340A>T (p.Val780=)
c.357A>T (p.Val119=)
c.416A>T
c.1548A>T (p.Val516=)
c.2676A>T (p.Val892=)
c.2856A>T (p.Val952=)
c.2523A>T (p.Val841=)
7g.117603641G>ACA368986708CFTRc.2767G>A (p.Ala923Thr)
c.*2481G>A (n.*2481G>A)
c.2584G>A (p.Ala862Thr)
c.*1067G>A (n.*1067G>A)
c.*2591G>A (n.*2591G>A)
c.2341G>A (p.Ala781Thr)
c.358G>A (p.Ala120Thr)
c.417G>A
c.1549G>A (p.Ala517Thr)
c.2677G>A (p.Ala893Thr)
c.2857G>A (p.Ala953Thr)
c.2524G>A (p.Ala842Thr)
7g.117603641G>CCA368986710CFTRc.2767G>C (p.Ala923Pro)
c.*2481G>C (n.*2481G>C)
c.2584G>C (p.Ala862Pro)
c.*1067G>C (n.*1067G>C)
c.*2591G>C (n.*2591G>C)
c.2341G>C (p.Ala781Pro)
c.358G>C (p.Ala120Pro)
c.417G>C
c.1549G>C (p.Ala517Pro)
c.2677G>C (p.Ala893Pro)
c.2857G>C (p.Ala953Pro)
c.2524G>C (p.Ala842Pro)
7g.117603641G>TCA368986713CFTRc.2767G>T (p.Ala923Ser)
c.*2481G>T (n.*2481G>T)
c.2584G>T (p.Ala862Ser)
c.*1067G>T (n.*1067G>T)
c.*2591G>T (n.*2591G>T)
c.2341G>T (p.Ala781Ser)
c.358G>T (p.Ala120Ser)
c.417G>T
c.1549G>T (p.Ala517Ser)
c.2677G>T (p.Ala893Ser)
c.2857G>T (p.Ala953Ser)
c.2524G>T (p.Ala842Ser)
7g.117603642C>ACA260222CFTRc.2768C>A (p.Ala923Asp)
c.*2482C>A (n.*2482C>A)
c.2585C>A (p.Ala862Asp)
c.*1068C>A (n.*1068C>A)
c.*2592C>A (n.*2592C>A)
c.2342C>A (p.Ala781Asp)
c.359C>A (p.Ala120Asp)
c.418C>A
c.1550C>A (p.Ala517Asp)
c.2678C>A (p.Ala893Asp)
c.2858C>A (p.Ala953Asp)
c.2525C>A (p.Ala842Asp)
 ClinVar dbSNP
7g.117603642C=CA1737374927CFTRc.2768C= (p.Ala923=)
c.*2482C= (n.*2482C=)
c.2585C= (p.Ala862=)
c.*1068C= (n.*1068C=)
c.*2592C= (n.*2592C=)
c.2342C= (p.Ala781=)
c.359C= (p.Ala120=)
c.418C=
c.1550C= (p.Ala517=)
c.2678C= (p.Ala893=)
c.2858C= (p.Ala953=)
c.2525C= (p.Ala842=)
7g.117603642C>GCA368986716CFTRc.2768C>G (p.Ala923Gly)
c.*2482C>G (n.*2482C>G)
c.2585C>G (p.Ala862Gly)
c.*1068C>G (n.*1068C>G)
c.*2592C>G (n.*2592C>G)
c.2342C>G (p.Ala781Gly)
c.359C>G (p.Ala120Gly)
c.418C>G
c.1550C>G (p.Ala517Gly)
c.2678C>G (p.Ala893Gly)
c.2858C>G (p.Ala953Gly)
c.2525C>G (p.Ala842Gly)
 gnomAD v4
7g.117603642C>TCA368986719CFTRc.2768C>T (p.Ala923Val)
c.*2482C>T (n.*2482C>T)
c.2585C>T (p.Ala862Val)
c.*1068C>T (n.*1068C>T)
c.*2592C>T (n.*2592C>T)
c.2342C>T (p.Ala781Val)
c.359C>T (p.Ala120Val)
c.418C>T
c.1550C>T (p.Ala517Val)
c.2678C>T (p.Ala893Val)
c.2858C>T (p.Ala953Val)
c.2525C>T (p.Ala842Val)
7g.117603643C>ACA457227960CFTRc.2769C>A (p.Ala923=)
c.*2483C>A (n.*2483C>A)
c.2586C>A (p.Ala862=)
c.*1069C>A (n.*1069C>A)
c.*2593C>A (n.*2593C>A)
c.2343C>A (p.Ala781=)
c.360C>A (p.Ala120=)
c.419C>A
c.1551C>A (p.Ala517=)
c.2679C>A (p.Ala893=)
c.2859C>A (p.Ala953=)
c.2526C>A (p.Ala842=)
7g.117603643C=CA1737374934CFTRc.2769C= (p.Ala923=)
c.*2483C= (n.*2483C=)
c.2586C= (p.Ala862=)
c.*1069C= (n.*1069C=)
c.*2593C= (n.*2593C=)
c.2343C= (p.Ala781=)
c.360C= (p.Ala120=)
c.419C=
c.1551C= (p.Ala517=)
c.2679C= (p.Ala893=)
c.2859C= (p.Ala953=)
c.2526C= (p.Ala842=)
7g.117603643C>GCA457227961CFTRc.2769C>G (p.Ala923=)
c.*2483C>G (n.*2483C>G)
c.2586C>G (p.Ala862=)
c.*1069C>G (n.*1069C>G)
c.*2593C>G (n.*2593C>G)
c.2343C>G (p.Ala781=)
c.360C>G (p.Ala120=)
c.419C>G
c.1551C>G (p.Ala517=)
c.2679C>G (p.Ala893=)
c.2859C>G (p.Ala953=)
c.2526C>G (p.Ala842=)
7g.117603643C>TCA221014CFTRc.2769C>T (p.Ala923=)
c.*2483C>T (n.*2483C>T)
c.2586C>T (p.Ala862=)
c.*1069C>T (n.*1069C>T)
c.*2593C>T (n.*2593C>T)
c.2343C>T (p.Ala781=)
c.360C>T (p.Ala120=)
c.419C>T
c.1551C>T (p.Ala517=)
c.2679C>T (p.Ala893=)
c.2859C>T (p.Ala953=)
c.2526C>T (p.Ala842=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117603644G>ACA326923CFTRc.2770G>A (p.Asp924Asn)
c.*2484G>A (n.*2484G>A)
c.2587G>A (p.Asp863Asn)
c.*1070G>A (n.*1070G>A)
c.*2594G>A (n.*2594G>A)
c.2344G>A (p.Asp782Asn)
c.361G>A (p.Asp121Asn)
c.420G>A
c.1552G>A (p.Asp518Asn)
c.2680G>A (p.Asp894Asn)
c.2860G>A (p.Asp954Asn)
c.2527G>A (p.Asp843Asn)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC
7g.117603644G>CCA368986725CFTRc.2770G>C (p.Asp924His)
c.*2484G>C (n.*2484G>C)
c.2587G>C (p.Asp863His)
c.*1070G>C (n.*1070G>C)
c.*2594G>C (n.*2594G>C)
c.2344G>C (p.Asp782His)
c.361G>C (p.Asp121His)
c.420G>C
c.1552G>C (p.Asp518His)
c.2680G>C (p.Asp894His)
c.2860G>C (p.Asp954His)
c.2527G>C (p.Asp843His)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603644G=CA1737374942CFTRc.2770G= (p.Asp924=)
c.*2484G= (n.*2484G=)
c.2587G= (p.Asp863=)
c.*1070G= (n.*1070G=)
c.*2594G= (n.*2594G=)
c.2344G= (p.Asp782=)
c.361G= (p.Asp121=)
c.420G=
c.1552G= (p.Asp518=)
c.2680G= (p.Asp894=)
c.2860G= (p.Asp954=)
c.2527G= (p.Asp843=)
7g.117603644G>TCA368986723CFTRc.2770G>T (p.Asp924Tyr)
c.*2484G>T (n.*2484G>T)
c.2587G>T (p.Asp863Tyr)
c.*1070G>T (n.*1070G>T)
c.*2594G>T (n.*2594G>T)
c.2344G>T (p.Asp782Tyr)
c.361G>T (p.Asp121Tyr)
c.420G>T
c.1552G>T (p.Asp518Tyr)
c.2680G>T (p.Asp894Tyr)
c.2860G>T (p.Asp954Tyr)
c.2527G>T (p.Asp843Tyr)
 gnomAD v4
7g.117603645A>CCA368986727CFTRc.2771A>C (p.Asp924Ala)
c.*2485A>C (n.*2485A>C)
c.2588A>C (p.Asp863Ala)
c.*1071A>C (n.*1071A>C)
c.*2595A>C (n.*2595A>C)
c.2345A>C (p.Asp782Ala)
c.362A>C (p.Asp121Ala)
c.421A>C
c.1553A>C (p.Asp518Ala)
c.2681A>C (p.Asp894Ala)
c.2861A>C (p.Asp954Ala)
c.2528A>C (p.Asp843Ala)
7g.117603645A>GCA368986729CFTRc.2771A>G (p.Asp924Gly)
c.*2485A>G (n.*2485A>G)
c.2588A>G (p.Asp863Gly)
c.*1071A>G (n.*1071A>G)
c.*2595A>G (n.*2595A>G)
c.2345A>G (p.Asp782Gly)
c.362A>G (p.Asp121Gly)
c.421A>G
c.1553A>G (p.Asp518Gly)
c.2681A>G (p.Asp894Gly)
c.2861A>G (p.Asp954Gly)
c.2528A>G (p.Asp843Gly)
 COSMIC
7g.117603645A>TCA368986731CFTRc.2771A>T (p.Asp924Val)
c.*2485A>T (n.*2485A>T)
c.2588A>T (p.Asp863Val)
c.*1071A>T (n.*1071A>T)
c.*2595A>T (n.*2595A>T)
c.2345A>T (p.Asp782Val)
c.362A>T (p.Asp121Val)
c.421A>T
c.1553A>T (p.Asp518Val)
c.2681A>T (p.Asp894Val)
c.2861A>T (p.Asp954Val)
c.2528A>T (p.Asp843Val)
7g.117603646C>ACA368986737CFTRc.2772C>A (p.Asp924Glu)
c.*2486C>A (n.*2486C>A)
c.2589C>A (p.Asp863Glu)
c.*1072C>A (n.*1072C>A)
c.*2596C>A (n.*2596C>A)
c.2346C>A (p.Asp782Glu)
c.363C>A (p.Asp121Glu)
c.422C>A
c.1554C>A (p.Asp518Glu)
c.2682C>A (p.Asp894Glu)
c.2862C>A (p.Asp954Glu)
c.2529C>A (p.Asp843Glu)
 ClinVar dbSNP COSMIC
7g.117603646C=CA1737374962CFTRc.2772C= (p.Asp924=)
c.*2486C= (n.*2486C=)
c.2589C= (p.Asp863=)
c.*1072C= (n.*1072C=)
c.*2596C= (n.*2596C=)
c.2346C= (p.Asp782=)
c.363C= (p.Asp121=)
c.422C=
c.1554C= (p.Asp518=)
c.2682C= (p.Asp894=)
c.2862C= (p.Asp954=)
c.2529C= (p.Asp843=)
7g.117603646C>GCA368986740CFTRc.2772C>G (p.Asp924Glu)
c.*2486C>G (n.*2486C>G)
c.2589C>G (p.Asp863Glu)
c.*1072C>G (n.*1072C>G)
c.*2596C>G (n.*2596C>G)
c.2346C>G (p.Asp782Glu)
c.363C>G (p.Asp121Glu)
c.422C>G
c.1554C>G (p.Asp518Glu)
c.2682C>G (p.Asp894Glu)
c.2862C>G (p.Asp954Glu)
c.2529C>G (p.Asp843Glu)
7g.117603646C>TCA457227962CFTRc.2772C>T (p.Asp924=)
c.*2486C>T (n.*2486C>T)
c.2589C>T (p.Asp863=)
c.*1072C>T (n.*1072C>T)
c.*2596C>T (n.*2596C>T)
c.2346C>T (p.Asp782=)
c.363C>T (p.Asp121=)
c.422C>T
c.1554C>T (p.Asp518=)
c.2682C>T (p.Asp894=)
c.2862C>T (p.Asp954=)
c.2529C>T (p.Asp843=)
 ClinVar dbSNP gnomAD v4
7g.117603647A=CA1737374972CFTRc.2773A= (p.Thr925=)
c.*2487A= (n.*2487A=)
c.2590A= (p.Thr864=)
c.*1073A= (n.*1073A=)
c.*2597A= (n.*2597A=)
c.2347A= (p.Thr783=)
c.364A= (p.Thr122=)
c.423A=
c.1555A= (p.Thr519=)
c.2683A= (p.Thr895=)
c.2863A= (p.Thr955=)
c.2530A= (p.Thr844=)
7g.117603647A>CCA368986742CFTRc.2773A>C (p.Thr925Pro)
c.*2487A>C (n.*2487A>C)
c.2590A>C (p.Thr864Pro)
c.*1073A>C (n.*1073A>C)
c.*2597A>C (n.*2597A>C)
c.2347A>C (p.Thr783Pro)
c.364A>C (p.Thr122Pro)
c.423A>C
c.1555A>C (p.Thr519Pro)
c.2683A>C (p.Thr895Pro)
c.2863A>C (p.Thr955Pro)
c.2530A>C (p.Thr844Pro)
7g.117603647A>GCA368986746CFTRc.2773A>G (p.Thr925Ala)
c.*2487A>G (n.*2487A>G)
c.2590A>G (p.Thr864Ala)
c.*1073A>G (n.*1073A>G)
c.*2597A>G (n.*2597A>G)
c.2347A>G (p.Thr783Ala)
c.364A>G (p.Thr122Ala)
c.423A>G
c.1555A>G (p.Thr519Ala)
c.2683A>G (p.Thr895Ala)
c.2863A>G (p.Thr955Ala)
c.2530A>G (p.Thr844Ala)
 ClinVar dbSNP gnomAD v4
7g.117603647A>TCA368986749CFTRc.2773A>T (p.Thr925Ser)
c.*2487A>T (n.*2487A>T)
c.2590A>T (p.Thr864Ser)
c.*1073A>T (n.*1073A>T)
c.*2597A>T (n.*2597A>T)
c.2347A>T (p.Thr783Ser)
c.364A>T (p.Thr122Ser)
c.423A>T
c.1555A>T (p.Thr519Ser)
c.2683A>T (p.Thr895Ser)
c.2863A>T (p.Thr955Ser)
c.2530A>T (p.Thr844Ser)
7g.117603648C>ACA368986752CFTRc.2774C>A (p.Thr925Asn)
c.*2488C>A (n.*2488C>A)
c.2591C>A (p.Thr864Asn)
c.*1074C>A (n.*1074C>A)
c.*2598C>A (n.*2598C>A)
c.2348C>A (p.Thr783Asn)
c.365C>A (p.Thr122Asn)
c.424C>A
c.1556C>A (p.Thr519Asn)
c.2684C>A (p.Thr895Asn)
c.2864C>A (p.Thr955Asn)
c.2531C>A (p.Thr844Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117603648C=CA1737374982CFTRc.2774C= (p.Thr925=)
c.*2488C= (n.*2488C=)
c.2591C= (p.Thr864=)
c.*1074C= (n.*1074C=)
c.*2598C= (n.*2598C=)
c.2348C= (p.Thr783=)
c.365C= (p.Thr122=)
c.424C=
c.1556C= (p.Thr519=)
c.2684C= (p.Thr895=)
c.2864C= (p.Thr955=)
c.2531C= (p.Thr844=)
7g.117603648C>GCA368986755CFTRc.2774C>G (p.Thr925Ser)
c.*2488C>G (n.*2488C>G)
c.2591C>G (p.Thr864Ser)
c.*1074C>G (n.*1074C>G)
c.*2598C>G (n.*2598C>G)
c.2348C>G (p.Thr783Ser)
c.365C>G (p.Thr122Ser)
c.424C>G
c.1556C>G (p.Thr519Ser)
c.2684C>G (p.Thr895Ser)
c.2864C>G (p.Thr955Ser)
c.2531C>G (p.Thr844Ser)
 ClinVar gnomAD v4
7g.117603648C>TCA164960163CFTRc.2774C>T (p.Thr925Ile)
c.*2488C>T (n.*2488C>T)
c.2591C>T (p.Thr864Ile)
c.*1074C>T (n.*1074C>T)
c.*2598C>T (n.*2598C>T)
c.2348C>T (p.Thr783Ile)
c.365C>T (p.Thr122Ile)
c.424C>T
c.1556C>T (p.Thr519Ile)
c.2684C>T (p.Thr895Ile)
c.2864C>T (p.Thr955Ile)
c.2531C>T (p.Thr844Ile)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117603648dupCA2579000253CFTRc.2774dup (p.Leu926PhefsTer?)
c.*2488dup (n.*2488dup)
c.2591dup (p.Leu865PhefsTer?)
c.*1074dup (n.*1074dup)
c.*2598dup (n.*2598dup)
c.2348dup (p.Leu784PhefsTer?)
c.365dup (p.Leu123PhefsTer?)
c.424dup
c.1556dup (p.Leu520PhefsTer?)
c.2684dup (p.Leu896PhefsTer?)
c.2864dup (p.Leu956PhefsTer?)
c.2531dup (p.Leu845PhefsTer?)
7g.117603648_117603650delinsCTTCA1737374978CFTRc.2774_2776delinsCTT (p.Thr925=)
c.*2488_*2490delinsCTT (n.*2488_*2490delinsCTT)
c.2591_2593delinsCTT (p.Thr864=)
c.*1074_*1076delinsCTT (n.*1074_*1076delinsCTT)
c.*2598_*2600delinsCTT (n.*2598_*2600delinsCTT)
c.2348_2350delinsCTT (p.Thr783=)
c.365_367delinsCTT (p.Thr122=)
c.424_426delinsCTT
c.1556_1558delinsCTT (p.Thr519=)
c.2684_2686delinsCTT (p.Thr895=)
c.2864_2866delinsCTT (p.Thr955=)
c.2531_2533delinsCTT (p.Thr844=)
7g.117603649T>ACA457227963CFTRc.2775T>A (p.Thr925=)
c.*2489T>A (n.*2489T>A)
c.2592T>A (p.Thr864=)
c.*1075T>A (n.*1075T>A)
c.*2599T>A (n.*2599T>A)
c.2349T>A (p.Thr783=)
c.366T>A (p.Thr122=)
c.425T>A
c.1557T>A (p.Thr519=)
c.2685T>A (p.Thr895=)
c.2865T>A (p.Thr955=)
c.2532T>A (p.Thr844=)
7g.117603649T>CCA457227964CFTRc.2775T>C (p.Thr925=)
c.*2489T>C (n.*2489T>C)
c.2592T>C (p.Thr864=)
c.*1075T>C (n.*1075T>C)
c.*2599T>C (n.*2599T>C)
c.2349T>C (p.Thr783=)
c.366T>C (p.Thr122=)
c.425T>C
c.1557T>C (p.Thr519=)
c.2685T>C (p.Thr895=)
c.2865T>C (p.Thr955=)
c.2532T>C (p.Thr844=)
7g.117603649T>GCA457227965CFTRc.2775T>G (p.Thr925=)
c.*2489T>G (n.*2489T>G)
c.2592T>G (p.Thr864=)
c.*1075T>G (n.*1075T>G)
c.*2599T>G (n.*2599T>G)
c.2349T>G (p.Thr783=)
c.366T>G (p.Thr122=)
c.425T>G
c.1557T>G (p.Thr519=)
c.2685T>G (p.Thr895=)
c.2865T>G (p.Thr955=)
c.2532T>G (p.Thr844=)
7g.117603651delCA326926CFTRc.2777del (p.Leu926CysfsTer16)
c.*2491del (n.*2491del)
c.2594del (p.Leu865CysfsTer16)
c.*1077del (n.*1077del)
c.*2601del (n.*2601del)
c.2351del (p.Leu784CysfsTer16)
c.368del (p.Leu123CysfsTer16)
c.427del
c.1559del (p.Leu520CysfsTer16)
c.2687del (p.Leu896CysfsTer16)
c.2867del (p.Leu956CysfsTer16)
c.2534del (p.Leu845CysfsTer16)
 ClinVar dbSNP
7g.117603650_117603651delCA326925CFTRc.2776_2777del (p.Leu926AlafsTer?)
c.*2490_*2491del (n.*2490_*2491del)
c.2593_2594del (p.Leu865AlafsTer?)
c.*1076_*1077del (n.*1076_*1077del)
c.*2600_*2601del (n.*2600_*2601del)
c.2350_2351del (p.Leu784AlafsTer?)
c.367_368del (p.Leu123AlafsTer?)
c.426_427del
c.1558_1559del (p.Leu520AlafsTer?)
c.2686_2687del (p.Leu896AlafsTer?)
c.2866_2867del (p.Leu956AlafsTer?)
c.2533_2534del (p.Leu845AlafsTer?)
 ClinVar dbSNP
7g.117603650T>ACA368986762CFTRc.2776T>A (p.Leu926Met)
c.*2490T>A (n.*2490T>A)
c.2593T>A (p.Leu865Met)
c.*1076T>A (n.*1076T>A)
c.*2600T>A (n.*2600T>A)
c.2350T>A (p.Leu784Met)
c.367T>A (p.Leu123Met)
c.426T>A
c.1558T>A (p.Leu520Met)
c.2686T>A (p.Leu896Met)
c.2866T>A (p.Leu956Met)
c.2533T>A (p.Leu845Met)
7g.117603650T>CCA457227966CFTRc.2776T>C (p.Leu926=)
c.*2490T>C (n.*2490T>C)
c.2593T>C (p.Leu865=)
c.*1076T>C (n.*1076T>C)
c.*2600T>C (n.*2600T>C)
c.2350T>C (p.Leu784=)
c.367T>C (p.Leu123=)
c.426T>C
c.1558T>C (p.Leu520=)
c.2686T>C (p.Leu896=)
c.2866T>C (p.Leu956=)
c.2533T>C (p.Leu845=)
 gnomAD v3 gnomAD v4
7g.117603650T>GCA368986764CFTRc.2776T>G (p.Leu926Val)
c.*2490T>G (n.*2490T>G)
c.2593T>G (p.Leu865Val)
c.*1076T>G (n.*1076T>G)
c.*2600T>G (n.*2600T>G)
c.2350T>G (p.Leu784Val)
c.367T>G (p.Leu123Val)
c.426T>G
c.1558T>G (p.Leu520Val)
c.2686T>G (p.Leu896Val)
c.2866T>G (p.Leu956Val)
c.2533T>G (p.Leu845Val)
7g.117603651T>ACA368986768CFTRc.2777T>A (p.Leu926Ter)
c.*2491T>A (n.*2491T>A)
c.2594T>A (p.Leu865Ter)
c.*1077T>A (n.*1077T>A)
c.*2601T>A (n.*2601T>A)
c.2351T>A (p.Leu784Ter)
c.368T>A (p.Leu123Ter)
c.427T>A
c.1559T>A (p.Leu520Ter)
c.2687T>A (p.Leu896Ter)
c.2867T>A (p.Leu956Ter)
c.2534T>A (p.Leu845Ter)
7g.117603651T>CCA4451286CFTRc.2777T>C (p.Leu926Ser)
c.*2491T>C (n.*2491T>C)
c.2594T>C (p.Leu865Ser)
c.*1077T>C (n.*1077T>C)
c.*2601T>C (n.*2601T>C)
c.2351T>C (p.Leu784Ser)
c.368T>C (p.Leu123Ser)
c.427T>C
c.1559T>C (p.Leu520Ser)
c.2687T>C (p.Leu896Ser)
c.2867T>C (p.Leu956Ser)
c.2534T>C (p.Leu845Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117603651T>GCA368986771CFTRc.2777T>G (p.Leu926Trp)
c.*2491T>G (n.*2491T>G)
c.2594T>G (p.Leu865Trp)
c.*1077T>G (n.*1077T>G)
c.*2601T>G (n.*2601T>G)
c.2351T>G (p.Leu784Trp)
c.368T>G (p.Leu123Trp)
c.427T>G
c.1559T>G (p.Leu520Trp)
c.2687T>G (p.Leu896Trp)
c.2867T>G (p.Leu956Trp)
c.2534T>G (p.Leu845Trp)
7g.117603651T=CA1737375014CFTRc.2777T= (p.Leu926=)
c.*2491T= (n.*2491T=)
c.2594T= (p.Leu865=)
c.*1077T= (n.*1077T=)
c.*2601T= (n.*2601T=)
c.2351T= (p.Leu784=)
c.368T= (p.Leu123=)
c.427T=
c.1559T= (p.Leu520=)
c.2687T= (p.Leu896=)
c.2867T= (p.Leu956=)
c.2534T= (p.Leu845=)

Number of alleles fetched