Chr Mutation (hg38) CAid Gene Transcript Linkouts
7g.117591251_117595608delinsCTACATTTGTACTACA2580076490CFTRc.1767-683_2619+550delinsCTACATTTGTACTA
c.*1481-683_*2333+550delinsCTACATTTGTACTA
c.1584-683_2436+550delinsCTACATTTGTACTA
c.*67-683_*919+550delinsCTACATTTGTACTA
c.*1591-683_*2443+550delinsCTACATTTGTACTA
c.1341-683_2193+550delinsCTACATTTGTACTA
c.1402-11575_1402-7218delinsCTACATTTGTACTA (n.1402-11575_1402-7218delinsCTACATTTGTACTA)
c.1677-683_2529+550delinsCTACATTTGTACTA
c.1857-683_2709+550delinsCTACATTTGTACTA
c.1524-683_2376+550delinsCTACATTTGTACTA
 ClinVar
7g.117592546delCA2580076555CFTRc.2379del (p.Val794CysfsTer9)
c.*2093del (n.*2093del)
c.2196del (p.Val733CysfsTer9)
c.*679del (n.*679del)
c.*2203del (n.*2203del)
c.1953del (p.Val652CysfsTer9)
c.29del
c.1402-10280del (n.1402-10280del)
c.2289del (p.Val764CysfsTer9)
c.2469del (p.Val824CysfsTer9)
c.2136del (p.Val713CysfsTer9)
 ClinVar
7g.117592546A>CCA368981088CFTRc.2379A>C (p.Lys793Asn)
c.*2093A>C (n.*2093A>C)
c.2196A>C (p.Lys732Asn)
c.*679A>C (n.*679A>C)
c.*2203A>C (n.*2203A>C)
c.1953A>C (p.Lys651Asn)
c.29A>C
c.1402-10280A>C (n.1402-10280A>C)
c.2289A>C (p.Lys763Asn)
c.2469A>C (p.Lys823Asn)
c.2136A>C (p.Lys712Asn)
7g.117592546A>GCA457449926CFTRc.2379A>G (p.Lys793=)
c.*2093A>G (n.*2093A>G)
c.2196A>G (p.Lys732=)
c.*679A>G (n.*679A>G)
c.*2203A>G (n.*2203A>G)
c.1953A>G (p.Lys651=)
c.29A>G
c.1402-10280A>G (n.1402-10280A>G)
c.2289A>G (p.Lys763=)
c.2469A>G (p.Lys823=)
c.2136A>G (p.Lys712=)
7g.117592546A>TCA368981089CFTRc.2379A>T (p.Lys793Asn)
c.*2093A>T (n.*2093A>T)
c.2196A>T (p.Lys732Asn)
c.*679A>T (n.*679A>T)
c.*2203A>T (n.*2203A>T)
c.1953A>T (p.Lys651Asn)
c.29A>T
c.1402-10280A>T (n.1402-10280A>T)
c.2289A>T (p.Lys763Asn)
c.2469A>T (p.Lys823Asn)
c.2136A>T (p.Lys712Asn)
 ClinVar
7g.117592547G>ACA368981090CFTRc.2380G>A (p.Val794Met)
c.*2094G>A (n.*2094G>A)
c.2197G>A (p.Val733Met)
c.*680G>A (n.*680G>A)
c.*2204G>A (n.*2204G>A)
c.1954G>A (p.Val652Met)
c.30G>A
c.1402-10279G>A (n.1402-10279G>A)
c.2290G>A (p.Val764Met)
c.2470G>A (p.Val824Met)
c.2137G>A (p.Val713Met)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592547G>CCA368981091CFTRc.2380G>C (p.Val794Leu)
c.*2094G>C (n.*2094G>C)
c.2197G>C (p.Val733Leu)
c.*680G>C (n.*680G>C)
c.*2204G>C (n.*2204G>C)
c.1954G>C (p.Val652Leu)
c.30G>C
c.1402-10279G>C (n.1402-10279G>C)
c.2290G>C (p.Val764Leu)
c.2470G>C (p.Val824Leu)
c.2137G>C (p.Val713Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592547G=CA1737395470CFTRc.2380G= (p.Val794=)
c.*2094G= (n.*2094G=)
c.2197G= (p.Val733=)
c.*680G= (n.*680G=)
c.*2204G= (n.*2204G=)
c.1954G= (p.Val652=)
c.30G=
c.1402-10279G= (n.1402-10279G=)
c.2290G= (p.Val764=)
c.2470G= (p.Val824=)
c.2137G= (p.Val713=)
7g.117592547G>TCA368981092CFTRc.2380G>T (p.Val794Leu)
c.*2094G>T (n.*2094G>T)
c.2197G>T (p.Val733Leu)
c.*680G>T (n.*680G>T)
c.*2204G>T (n.*2204G>T)
c.1954G>T (p.Val652Leu)
c.30G>T
c.1402-10279G>T (n.1402-10279G>T)
c.2290G>T (p.Val764Leu)
c.2470G>T (p.Val824Leu)
c.2137G>T (p.Val713Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.117592549_117592550delCA2580617857CFTRc.2382_2383del (p.Ser795ThrfsTer9)
c.*2096_*2097del (n.*2096_*2097del)
c.2199_2200del (p.Ser734ThrfsTer9)
c.*682_*683del (n.*682_*683del)
c.*2206_*2207del (n.*2206_*2207del)
c.1956_1957del (p.Ser653ThrfsTer9)
c.32_33del
c.1402-10277_1402-10276del (n.1402-10277_1402-10276del)
c.2292_2293del (p.Ser765ThrfsTer9)
c.2472_2473del (p.Ser825ThrfsTer9)
c.2139_2140del (p.Ser714ThrfsTer9)
 ClinVar
7g.117592548_117592617delCA2695199624CFTRc.2381_2450del (p.Val794AlafsTer4)
c.*2095_*2164del (n.*2095_*2164del)
c.2198_2267del (p.Val733AlafsTer4)
c.*681_*750del (n.*681_*750del)
c.*2205_*2274del (n.*2205_*2274del)
c.1955_2024del (p.Val652AlafsTer4)
c.31_100del
c.1402-10278_1402-10209del (n.1402-10278_1402-10209del)
c.2291_2360del (p.Val764AlafsTer4)
c.2471_2540del (p.Val824AlafsTer4)
c.2138_2207del (p.Val713AlafsTer4)
 ClinVar
7g.117592548T>ACA368981093CFTRc.2381T>A (p.Val794Glu)
c.*2095T>A (n.*2095T>A)
c.2198T>A (p.Val733Glu)
c.*681T>A (n.*681T>A)
c.*2205T>A (n.*2205T>A)
c.1955T>A (p.Val652Glu)
c.31T>A
c.1402-10278T>A (n.1402-10278T>A)
c.2291T>A (p.Val764Glu)
c.2471T>A (p.Val824Glu)
c.2138T>A (p.Val713Glu)
 ClinVar
7g.117592548T>CCA368981094CFTRc.2381T>C (p.Val794Ala)
c.*2095T>C (n.*2095T>C)
c.2198T>C (p.Val733Ala)
c.*681T>C (n.*681T>C)
c.*2205T>C (n.*2205T>C)
c.1955T>C (p.Val652Ala)
c.31T>C
c.1402-10278T>C (n.1402-10278T>C)
c.2291T>C (p.Val764Ala)
c.2471T>C (p.Val824Ala)
c.2138T>C (p.Val713Ala)
7g.117592548T>GCA368981095CFTRc.2381T>G (p.Val794Gly)
c.*2095T>G (n.*2095T>G)
c.2198T>G (p.Val733Gly)
c.*681T>G (n.*681T>G)
c.*2205T>G (n.*2205T>G)
c.1955T>G (p.Val652Gly)
c.31T>G
c.1402-10278T>G (n.1402-10278T>G)
c.2291T>G (p.Val764Gly)
c.2471T>G (p.Val824Gly)
c.2138T>G (p.Val713Gly)
7g.117592549G>ACA457449937CFTRc.2382G>A (p.Val794=)
c.*2096G>A (n.*2096G>A)
c.2199G>A (p.Val733=)
c.*682G>A (n.*682G>A)
c.*2206G>A (n.*2206G>A)
c.1956G>A (p.Val652=)
c.32G>A
c.1402-10277G>A (n.1402-10277G>A)
c.2292G>A (p.Val764=)
c.2472G>A (p.Val824=)
c.2139G>A (p.Val713=)
7g.117592549G>CCA457449936CFTRc.2382G>C (p.Val794=)
c.*2096G>C (n.*2096G>C)
c.2199G>C (p.Val733=)
c.*682G>C (n.*682G>C)
c.*2206G>C (n.*2206G>C)
c.1956G>C (p.Val652=)
c.32G>C
c.1402-10277G>C (n.1402-10277G>C)
c.2292G>C (p.Val764=)
c.2472G>C (p.Val824=)
c.2139G>C (p.Val713=)
7g.117592549G>TCA457449935CFTRc.2382G>T (p.Val794=)
c.*2096G>T (n.*2096G>T)
c.2199G>T (p.Val733=)
c.*682G>T (n.*682G>T)
c.*2206G>T (n.*2206G>T)
c.1956G>T (p.Val652=)
c.32G>T
c.1402-10277G>T (n.1402-10277G>T)
c.2292G>T (p.Val764=)
c.2472G>T (p.Val824=)
c.2139G>T (p.Val713=)
7g.117592550T>ACA368981096CFTRc.2383T>A (p.Ser795Thr)
c.*2097T>A (n.*2097T>A)
c.2200T>A (p.Ser734Thr)
c.*683T>A (n.*683T>A)
c.*2207T>A (n.*2207T>A)
c.1957T>A (p.Ser653Thr)
c.33T>A
c.1402-10276T>A (n.1402-10276T>A)
c.2293T>A (p.Ser765Thr)
c.2473T>A (p.Ser825Thr)
c.2140T>A (p.Ser714Thr)
7g.117592550T>CCA368981097CFTRc.2383T>C (p.Ser795Pro)
c.*2097T>C (n.*2097T>C)
c.2200T>C (p.Ser734Pro)
c.*683T>C (n.*683T>C)
c.*2207T>C (n.*2207T>C)
c.1957T>C (p.Ser653Pro)
c.33T>C
c.1402-10276T>C (n.1402-10276T>C)
c.2293T>C (p.Ser765Pro)
c.2473T>C (p.Ser825Pro)
c.2140T>C (p.Ser714Pro)
7g.117592550T>GCA368981098CFTRc.2383T>G (p.Ser795Ala)
c.*2097T>G (n.*2097T>G)
c.2200T>G (p.Ser734Ala)
c.*683T>G (n.*683T>G)
c.*2207T>G (n.*2207T>G)
c.1957T>G (p.Ser653Ala)
c.33T>G
c.1402-10276T>G (n.1402-10276T>G)
c.2293T>G (p.Ser765Ala)
c.2473T>G (p.Ser825Ala)
c.2140T>G (p.Ser714Ala)
7g.117592550_117592551delinsTCCA1737395474CFTRc.2383_2384delinsTC (p.Ser795=)
c.*2097_*2098delinsTC (n.*2097_*2098delinsTC)
c.2200_2201delinsTC (p.Ser734=)
c.*683_*684delinsTC (n.*683_*684delinsTC)
c.*2207_*2208delinsTC (n.*2207_*2208delinsTC)
c.1957_1958delinsTC (p.Ser653=)
c.33_34delinsTC
c.1402-10276_1402-10275delinsTC (n.1402-10276_1402-10275delinsTC)
c.2293_2294delinsTC (p.Ser765=)
c.2473_2474delinsTC (p.Ser825=)
c.2140_2141delinsTC (p.Ser714=)
7g.117592551delCA164948262CFTRc.2384del (p.Ser795TyrfsTer8)
c.*2098del (n.*2098del)
c.2201del (p.Ser734TyrfsTer8)
c.*684del (n.*684del)
c.*2208del (n.*2208del)
c.1958del (p.Ser653TyrfsTer8)
c.34del
c.1402-10275del (n.1402-10275del)
c.2294del (p.Ser765TyrfsTer8)
c.2474del (p.Ser825TyrfsTer8)
c.2141del (p.Ser714TyrfsTer8)
 dbSNP
7g.117592551C>ACA368981100CFTRc.2384C>A (p.Ser795Ter)
c.*2098C>A (n.*2098C>A)
c.2201C>A (p.Ser734Ter)
c.*684C>A (n.*684C>A)
c.*2208C>A (n.*2208C>A)
c.1958C>A (p.Ser653Ter)
c.34C>A
c.1402-10275C>A (n.1402-10275C>A)
c.2294C>A (p.Ser765Ter)
c.2474C>A (p.Ser825Ter)
c.2141C>A (p.Ser714Ter)
 gnomAD v4
7g.117592551C=CA1737395477CFTRc.2384C= (p.Ser795=)
c.*2098C= (n.*2098C=)
c.2201C= (p.Ser734=)
c.*684C= (n.*684C=)
c.*2208C= (n.*2208C=)
c.1958C= (p.Ser653=)
c.34C=
c.1402-10275C= (n.1402-10275C=)
c.2294C= (p.Ser765=)
c.2474C= (p.Ser825=)
c.2141C= (p.Ser714=)
7g.117592551C>GCA368981101CFTRc.2384C>G (p.Ser795Ter)
c.*2098C>G (n.*2098C>G)
c.2201C>G (p.Ser734Ter)
c.*684C>G (n.*684C>G)
c.*2208C>G (n.*2208C>G)
c.1958C>G (p.Ser653Ter)
c.34C>G
c.1402-10275C>G (n.1402-10275C>G)
c.2294C>G (p.Ser765Ter)
c.2474C>G (p.Ser825Ter)
c.2141C>G (p.Ser714Ter)
7g.117592551C>TCA368981099CFTRc.2384C>T (p.Ser795Leu)
c.*2098C>T (n.*2098C>T)
c.2201C>T (p.Ser734Leu)
c.*684C>T (n.*684C>T)
c.*2208C>T (n.*2208C>T)
c.1958C>T (p.Ser653Leu)
c.34C>T
c.1402-10275C>T (n.1402-10275C>T)
c.2294C>T (p.Ser765Leu)
c.2474C>T (p.Ser825Leu)
c.2141C>T (p.Ser714Leu)
 dbSNP
7g.117592552A>CCA457449948CFTRc.2385A>C (p.Ser795=)
c.*2099A>C (n.*2099A>C)
c.2202A>C (p.Ser734=)
c.*685A>C (n.*685A>C)
c.*2209A>C (n.*2209A>C)
c.1959A>C (p.Ser653=)
c.35A>C
c.1402-10274A>C (n.1402-10274A>C)
c.2295A>C (p.Ser765=)
c.2475A>C (p.Ser825=)
c.2142A>C (p.Ser714=)
7g.117592552A>GCA457449949CFTRc.2385A>G (p.Ser795=)
c.*2099A>G (n.*2099A>G)
c.2202A>G (p.Ser734=)
c.*685A>G (n.*685A>G)
c.*2209A>G (n.*2209A>G)
c.1959A>G (p.Ser653=)
c.35A>G
c.1402-10274A>G (n.1402-10274A>G)
c.2295A>G (p.Ser765=)
c.2475A>G (p.Ser825=)
c.2142A>G (p.Ser714=)
7g.117592552A>TCA457449950CFTRc.2385A>T (p.Ser795=)
c.*2099A>T (n.*2099A>T)
c.2202A>T (p.Ser734=)
c.*685A>T (n.*685A>T)
c.*2209A>T (n.*2209A>T)
c.1959A>T (p.Ser653=)
c.35A>T
c.1402-10274A>T (n.1402-10274A>T)
c.2295A>T (p.Ser765=)
c.2475A>T (p.Ser825=)
c.2142A>T (p.Ser714=)
7g.117592553C>ACA368981103CFTRc.2386C>A (p.Leu796Met)
c.*2100C>A (n.*2100C>A)
c.2203C>A (p.Leu735Met)
c.*686C>A (n.*686C>A)
c.*2210C>A (n.*2210C>A)
c.1960C>A (p.Leu654Met)
c.36C>A
c.1402-10273C>A (n.1402-10273C>A)
c.2296C>A (p.Leu766Met)
c.2476C>A (p.Leu826Met)
c.2143C>A (p.Leu715Met)
7g.117592553C>GCA368981102CFTRc.2386C>G (p.Leu796Val)
c.*2100C>G (n.*2100C>G)
c.2203C>G (p.Leu735Val)
c.*686C>G (n.*686C>G)
c.*2210C>G (n.*2210C>G)
c.1960C>G (p.Leu654Val)
c.36C>G
c.1402-10273C>G (n.1402-10273C>G)
c.2296C>G (p.Leu766Val)
c.2476C>G (p.Leu826Val)
c.2143C>G (p.Leu715Val)
7g.117592553C>TCA457449951CFTRc.2386C>T (p.Leu796=)
c.*2100C>T (n.*2100C>T)
c.2203C>T (p.Leu735=)
c.*686C>T (n.*686C>T)
c.*2210C>T (n.*2210C>T)
c.1960C>T (p.Leu654=)
c.36C>T
c.1402-10273C>T (n.1402-10273C>T)
c.2296C>T (p.Leu766=)
c.2476C>T (p.Leu826=)
c.2143C>T (p.Leu715=)
 gnomAD v4
7g.117592554T>ACA368981106CFTRc.2387T>A (p.Leu796Gln)
c.*2101T>A (n.*2101T>A)
c.2204T>A (p.Leu735Gln)
c.*687T>A (n.*687T>A)
c.*2211T>A (n.*2211T>A)
c.1961T>A (p.Leu654Gln)
c.37T>A
c.1402-10272T>A (n.1402-10272T>A)
c.2297T>A (p.Leu766Gln)
c.2477T>A (p.Leu826Gln)
c.2144T>A (p.Leu715Gln)
 ClinVar gnomAD v4
7g.117592554T>CCA368981104CFTRc.2387T>C (p.Leu796Pro)
c.*2101T>C (n.*2101T>C)
c.2204T>C (p.Leu735Pro)
c.*687T>C (n.*687T>C)
c.*2211T>C (n.*2211T>C)
c.1961T>C (p.Leu654Pro)
c.37T>C
c.1402-10272T>C (n.1402-10272T>C)
c.2297T>C (p.Leu766Pro)
c.2477T>C (p.Leu826Pro)
c.2144T>C (p.Leu715Pro)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592554T>GCA368981105CFTRc.2387T>G (p.Leu796Arg)
c.*2101T>G (n.*2101T>G)
c.2204T>G (p.Leu735Arg)
c.*687T>G (n.*687T>G)
c.*2211T>G (n.*2211T>G)
c.1961T>G (p.Leu654Arg)
c.37T>G
c.1402-10272T>G (n.1402-10272T>G)
c.2297T>G (p.Leu766Arg)
c.2477T>G (p.Leu826Arg)
c.2144T>G (p.Leu715Arg)
7g.117592554T=CA1737395480CFTRc.2387T= (p.Leu796=)
c.*2101T= (n.*2101T=)
c.2204T= (p.Leu735=)
c.*687T= (n.*687T=)
c.*2211T= (n.*2211T=)
c.1961T= (p.Leu654=)
c.37T=
c.1402-10272T= (n.1402-10272T=)
c.2297T= (p.Leu766=)
c.2477T= (p.Leu826=)
c.2144T= (p.Leu715=)
7g.117592555G>ACA457449956CFTRc.2388G>A (p.Leu796=)
c.*2102G>A (n.*2102G>A)
c.2205G>A (p.Leu735=)
c.*688G>A (n.*688G>A)
c.*2212G>A (n.*2212G>A)
c.1962G>A (p.Leu654=)
c.38G>A
c.1402-10271G>A (n.1402-10271G>A)
c.2298G>A (p.Leu766=)
c.2478G>A (p.Leu826=)
c.2145G>A (p.Leu715=)
7g.117592555G>CCA457449959CFTRc.2388G>C (p.Leu796=)
c.*2102G>C (n.*2102G>C)
c.2205G>C (p.Leu735=)
c.*688G>C (n.*688G>C)
c.*2212G>C (n.*2212G>C)
c.1962G>C (p.Leu654=)
c.38G>C
c.1402-10271G>C (n.1402-10271G>C)
c.2298G>C (p.Leu766=)
c.2478G>C (p.Leu826=)
c.2145G>C (p.Leu715=)
7g.117592555G>TCA457449958CFTRc.2388G>T (p.Leu796=)
c.*2102G>T (n.*2102G>T)
c.2205G>T (p.Leu735=)
c.*688G>T (n.*688G>T)
c.*2212G>T (n.*2212G>T)
c.1962G>T (p.Leu654=)
c.38G>T
c.1402-10271G>T (n.1402-10271G>T)
c.2298G>T (p.Leu766=)
c.2478G>T (p.Leu826=)
c.2145G>T (p.Leu715=)
7g.117592556G>ACA368981107CFTRc.2389G>A (p.Ala797Thr)
c.*2103G>A (n.*2103G>A)
c.2206G>A (p.Ala736Thr)
c.*689G>A (n.*689G>A)
c.*2213G>A (n.*2213G>A)
c.1963G>A (p.Ala655Thr)
c.39G>A
c.1402-10270G>A (n.1402-10270G>A)
c.2299G>A (p.Ala767Thr)
c.2479G>A (p.Ala827Thr)
c.2146G>A (p.Ala716Thr)
 dbSNP gnomAD v4
7g.117592556G>CCA368981108CFTRc.2389G>C (p.Ala797Pro)
c.*2103G>C (n.*2103G>C)
c.2206G>C (p.Ala736Pro)
c.*689G>C (n.*689G>C)
c.*2213G>C (n.*2213G>C)
c.1963G>C (p.Ala655Pro)
c.39G>C
c.1402-10270G>C (n.1402-10270G>C)
c.2299G>C (p.Ala767Pro)
c.2479G>C (p.Ala827Pro)
c.2146G>C (p.Ala716Pro)
7g.117592556G=CA1737395485CFTRc.2389G= (p.Ala797=)
c.*2103G= (n.*2103G=)
c.2206G= (p.Ala736=)
c.*689G= (n.*689G=)
c.*2213G= (n.*2213G=)
c.1963G= (p.Ala655=)
c.39G=
c.1402-10270G= (n.1402-10270G=)
c.2299G= (p.Ala767=)
c.2479G= (p.Ala827=)
c.2146G= (p.Ala716=)
7g.117592556G>TCA368981109CFTRc.2389G>T (p.Ala797Ser)
c.*2103G>T (n.*2103G>T)
c.2206G>T (p.Ala736Ser)
c.*689G>T (n.*689G>T)
c.*2213G>T (n.*2213G>T)
c.1963G>T (p.Ala655Ser)
c.39G>T
c.1402-10270G>T (n.1402-10270G>T)
c.2299G>T (p.Ala767Ser)
c.2479G>T (p.Ala827Ser)
c.2146G>T (p.Ala716Ser)
 ClinVar gnomAD v4
7g.117592557C>ACA368981110CFTRc.2390C>A (p.Ala797Asp)
c.*2104C>A (n.*2104C>A)
c.2207C>A (p.Ala736Asp)
c.*690C>A (n.*690C>A)
c.*2214C>A (n.*2214C>A)
c.1964C>A (p.Ala655Asp)
c.40C>A
c.1402-10269C>A (n.1402-10269C>A)
c.2300C>A (p.Ala767Asp)
c.2480C>A (p.Ala827Asp)
c.2147C>A (p.Ala716Asp)
7g.117592557C>GCA368981111CFTRc.2390C>G (p.Ala797Gly)
c.*2104C>G (n.*2104C>G)
c.2207C>G (p.Ala736Gly)
c.*690C>G (n.*690C>G)
c.*2214C>G (n.*2214C>G)
c.1964C>G (p.Ala655Gly)
c.40C>G
c.1402-10269C>G (n.1402-10269C>G)
c.2300C>G (p.Ala767Gly)
c.2480C>G (p.Ala827Gly)
c.2147C>G (p.Ala716Gly)
 ClinVar dbSNP
7g.117592557C>TCA368981112CFTRc.2390C>T (p.Ala797Val)
c.*2104C>T (n.*2104C>T)
c.2207C>T (p.Ala736Val)
c.*690C>T (n.*690C>T)
c.*2214C>T (n.*2214C>T)
c.1964C>T (p.Ala655Val)
c.40C>T
c.1402-10269C>T (n.1402-10269C>T)
c.2300C>T (p.Ala767Val)
c.2480C>T (p.Ala827Val)
c.2147C>T (p.Ala716Val)
7g.117592560dupCA326809CFTRc.2393dup (p.Gln799SerfsTer6)
c.*2107dup (n.*2107dup)
c.2210dup (p.Gln738SerfsTer6)
c.*693dup (n.*693dup)
c.*2217dup (n.*2217dup)
c.1967dup (p.Gln657SerfsTer6)
c.43dup
c.1402-10266dup (n.1402-10266dup)
c.2303dup (p.Gln769SerfsTer6)
c.2483dup (p.Gln829SerfsTer6)
c.2150dup (p.Gln718SerfsTer6)
 ClinVar dbSNP
7g.117592558C>ACA164948266CFTRc.2391C>A (p.Ala797=)
c.*2105C>A (n.*2105C>A)
c.2208C>A (p.Ala736=)
c.*691C>A (n.*691C>A)
c.*2215C>A (n.*2215C>A)
c.1965C>A (p.Ala655=)
c.41C>A
c.1402-10268C>A (n.1402-10268C>A)
c.2301C>A (p.Ala767=)
c.2481C>A (p.Ala827=)
c.2148C>A (p.Ala716=)
 dbSNP gnomAD v4
7g.117592558C=CA1737395493CFTRc.2391C= (p.Ala797=)
c.*2105C= (n.*2105C=)
c.2208C= (p.Ala736=)
c.*691C= (n.*691C=)
c.*2215C= (n.*2215C=)
c.1965C= (p.Ala655=)
c.41C=
c.1402-10268C= (n.1402-10268C=)
c.2301C= (p.Ala767=)
c.2481C= (p.Ala827=)
c.2148C= (p.Ala716=)
7g.117592558C>GCA457449968CFTRc.2391C>G (p.Ala797=)
c.*2105C>G (n.*2105C>G)
c.2208C>G (p.Ala736=)
c.*691C>G (n.*691C>G)
c.*2215C>G (n.*2215C>G)
c.1965C>G (p.Ala655=)
c.41C>G
c.1402-10268C>G (n.1402-10268C>G)
c.2301C>G (p.Ala767=)
c.2481C>G (p.Ala827=)
c.2148C>G (p.Ala716=)
 gnomAD v4
7g.117592558C>TCA457449970CFTRc.2391C>T (p.Ala797=)
c.*2105C>T (n.*2105C>T)
c.2208C>T (p.Ala736=)
c.*691C>T (n.*691C>T)
c.*2215C>T (n.*2215C>T)
c.1965C>T (p.Ala655=)
c.41C>T
c.1402-10268C>T (n.1402-10268C>T)
c.2301C>T (p.Ala767=)
c.2481C>T (p.Ala827=)
c.2148C>T (p.Ala716=)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592559C>ACA368981113CFTRc.2392C>A (p.Pro798Thr)
c.*2106C>A (n.*2106C>A)
c.2209C>A (p.Pro737Thr)
c.*692C>A (n.*692C>A)
c.*2216C>A (n.*2216C>A)
c.1966C>A (p.Pro656Thr)
c.42C>A
c.1402-10267C>A (n.1402-10267C>A)
c.2302C>A (p.Pro768Thr)
c.2482C>A (p.Pro828Thr)
c.2149C>A (p.Pro717Thr)
7g.117592559C=CA1737395497CFTRc.2392C= (p.Pro798=)
c.*2106C= (n.*2106C=)
c.2209C= (p.Pro737=)
c.*692C= (n.*692C=)
c.*2216C= (n.*2216C=)
c.1966C= (p.Pro656=)
c.42C=
c.1402-10267C= (n.1402-10267C=)
c.2302C= (p.Pro768=)
c.2482C= (p.Pro828=)
c.2149C= (p.Pro717=)
7g.117592559C>GCA368981114CFTRc.2392C>G (p.Pro798Ala)
c.*2106C>G (n.*2106C>G)
c.2209C>G (p.Pro737Ala)
c.*692C>G (n.*692C>G)
c.*2216C>G (n.*2216C>G)
c.1966C>G (p.Pro656Ala)
c.42C>G
c.1402-10267C>G (n.1402-10267C>G)
c.2302C>G (p.Pro768Ala)
c.2482C>G (p.Pro828Ala)
c.2149C>G (p.Pro717Ala)
 gnomAD v4
7g.117592559C>TCA260215CFTRc.2392C>T (p.Pro798Ser)
c.*2106C>T (n.*2106C>T)
c.2209C>T (p.Pro737Ser)
c.*692C>T (n.*692C>T)
c.*2216C>T (n.*2216C>T)
c.1966C>T (p.Pro656Ser)
c.42C>T
c.1402-10267C>T (n.1402-10267C>T)
c.2302C>T (p.Pro768Ser)
c.2482C>T (p.Pro828Ser)
c.2149C>T (p.Pro717Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592560C>ACA368981115CFTRc.2393C>A (p.Pro798His)
c.*2107C>A (n.*2107C>A)
c.2210C>A (p.Pro737His)
c.*693C>A (n.*693C>A)
c.*2217C>A (n.*2217C>A)
c.1967C>A (p.Pro656His)
c.43C>A
c.1402-10266C>A (n.1402-10266C>A)
c.2303C>A (p.Pro768His)
c.2483C>A (p.Pro828His)
c.2150C>A (p.Pro717His)
7g.117592560C=CA1737395502CFTRc.2393C= (p.Pro798=)
c.*2107C= (n.*2107C=)
c.2210C= (p.Pro737=)
c.*693C= (n.*693C=)
c.*2217C= (n.*2217C=)
c.1967C= (p.Pro656=)
c.43C=
c.1402-10266C= (n.1402-10266C=)
c.2303C= (p.Pro768=)
c.2483C= (p.Pro828=)
c.2150C= (p.Pro717=)
7g.117592560C>GCA368981116CFTRc.2393C>G (p.Pro798Arg)
c.*2107C>G (n.*2107C>G)
c.2210C>G (p.Pro737Arg)
c.*693C>G (n.*693C>G)
c.*2217C>G (n.*2217C>G)
c.1967C>G (p.Pro656Arg)
c.43C>G
c.1402-10266C>G (n.1402-10266C>G)
c.2303C>G (p.Pro768Arg)
c.2483C>G (p.Pro828Arg)
c.2150C>G (p.Pro717Arg)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592560C>TCA368981117CFTRc.2393C>T (p.Pro798Leu)
c.*2107C>T (n.*2107C>T)
c.2210C>T (p.Pro737Leu)
c.*693C>T (n.*693C>T)
c.*2217C>T (n.*2217C>T)
c.1967C>T (p.Pro656Leu)
c.43C>T
c.1402-10266C>T (n.1402-10266C>T)
c.2303C>T (p.Pro768Leu)
c.2483C>T (p.Pro828Leu)
c.2150C>T (p.Pro717Leu)
7g.117592561T>ACA457448916CFTRc.2394T>A (p.Pro798=)
c.*2108T>A (n.*2108T>A)
c.2211T>A (p.Pro737=)
c.*694T>A (n.*694T>A)
c.*2218T>A (n.*2218T>A)
c.1968T>A (p.Pro656=)
c.44T>A
c.1402-10265T>A (n.1402-10265T>A)
c.2304T>A (p.Pro768=)
c.2484T>A (p.Pro828=)
c.2151T>A (p.Pro717=)
7g.117592561T>CCA457448917CFTRc.2394T>C (p.Pro798=)
c.*2108T>C (n.*2108T>C)
c.2211T>C (p.Pro737=)
c.*694T>C (n.*694T>C)
c.*2218T>C (n.*2218T>C)
c.1968T>C (p.Pro656=)
c.44T>C
c.1402-10265T>C (n.1402-10265T>C)
c.2304T>C (p.Pro768=)
c.2484T>C (p.Pro828=)
c.2151T>C (p.Pro717=)
7g.117592561T>GCA457448918CFTRc.2394T>G (p.Pro798=)
c.*2108T>G (n.*2108T>G)
c.2211T>G (p.Pro737=)
c.*694T>G (n.*694T>G)
c.*2218T>G (n.*2218T>G)
c.1968T>G (p.Pro656=)
c.44T>G
c.1402-10265T>G (n.1402-10265T>G)
c.2304T>G (p.Pro768=)
c.2484T>G (p.Pro828=)
c.2151T>G (p.Pro717=)
7g.117592562C>ACA164948282CFTRc.2395C>A (p.Gln799Lys)
c.*2109C>A (n.*2109C>A)
c.2212C>A (p.Gln738Lys)
c.*695C>A (n.*695C>A)
c.*2219C>A (n.*2219C>A)
c.1969C>A (p.Gln657Lys)
c.45C>A
c.1402-10264C>A (n.1402-10264C>A)
c.2305C>A (p.Gln769Lys)
c.2485C>A (p.Gln829Lys)
c.2152C>A (p.Gln718Lys)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592562C=CA1737395506CFTRc.2395C= (p.Gln799=)
c.*2109C= (n.*2109C=)
c.2212C= (p.Gln738=)
c.*695C= (n.*695C=)
c.*2219C= (n.*2219C=)
c.1969C= (p.Gln657=)
c.45C=
c.1402-10264C= (n.1402-10264C=)
c.2305C= (p.Gln769=)
c.2485C= (p.Gln829=)
c.2152C= (p.Gln718=)
7g.117592562C>GCA368981120CFTRc.2395C>G (p.Gln799Glu)
c.*2109C>G (n.*2109C>G)
c.2212C>G (p.Gln738Glu)
c.*695C>G (n.*695C>G)
c.*2219C>G (n.*2219C>G)
c.1969C>G (p.Gln657Glu)
c.45C>G
c.1402-10264C>G (n.1402-10264C>G)
c.2305C>G (p.Gln769Glu)
c.2485C>G (p.Gln829Glu)
c.2152C>G (p.Gln718Glu)
7g.117592562C>TCA368981119CFTRc.2395C>T (p.Gln799Ter)
c.*2109C>T (n.*2109C>T)
c.2212C>T (p.Gln738Ter)
c.*695C>T (n.*695C>T)
c.*2219C>T (n.*2219C>T)
c.1969C>T (p.Gln657Ter)
c.45C>T
c.1402-10264C>T (n.1402-10264C>T)
c.2305C>T (p.Gln769Ter)
c.2485C>T (p.Gln829Ter)
c.2152C>T (p.Gln718Ter)
 ClinVar dbSNP
7g.117592563A=CA1737395512CFTRc.2396A= (p.Gln799=)
c.*2110A= (n.*2110A=)
c.2213A= (p.Gln738=)
c.*696A= (n.*696A=)
c.*2220A= (n.*2220A=)
c.1970A= (p.Gln657=)
c.46A=
c.1402-10263A= (n.1402-10263A=)
c.2306A= (p.Gln769=)
c.2486A= (p.Gln829=)
c.2153A= (p.Gln718=)
7g.117592563A>CCA368981122CFTRc.2396A>C (p.Gln799Pro)
c.*2110A>C (n.*2110A>C)
c.2213A>C (p.Gln738Pro)
c.*696A>C (n.*696A>C)
c.*2220A>C (n.*2220A>C)
c.1970A>C (p.Gln657Pro)
c.46A>C
c.1402-10263A>C (n.1402-10263A>C)
c.2306A>C (p.Gln769Pro)
c.2486A>C (p.Gln829Pro)
c.2153A>C (p.Gln718Pro)
7g.117592563A>GCA368981123CFTRc.2396A>G (p.Gln799Arg)
c.*2110A>G (n.*2110A>G)
c.2213A>G (p.Gln738Arg)
c.*696A>G (n.*696A>G)
c.*2220A>G (n.*2220A>G)
c.1970A>G (p.Gln657Arg)
c.46A>G
c.1402-10263A>G (n.1402-10263A>G)
c.2306A>G (p.Gln769Arg)
c.2486A>G (p.Gln829Arg)
c.2153A>G (p.Gln718Arg)
 dbSNP gnomAD v4
7g.117592563A>TCA368981124CFTRc.2396A>T (p.Gln799Leu)
c.*2110A>T (n.*2110A>T)
c.2213A>T (p.Gln738Leu)
c.*696A>T (n.*696A>T)
c.*2220A>T (n.*2220A>T)
c.1970A>T (p.Gln657Leu)
c.46A>T
c.1402-10263A>T (n.1402-10263A>T)
c.2306A>T (p.Gln769Leu)
c.2486A>T (p.Gln829Leu)
c.2153A>T (p.Gln718Leu)
7g.117592564G>ACA457448921CFTRc.2397G>A (p.Gln799=)
c.*2111G>A (n.*2111G>A)
c.2214G>A (p.Gln738=)
c.*697G>A (n.*697G>A)
c.*2221G>A (n.*2221G>A)
c.1971G>A (p.Gln657=)
c.47G>A
c.1402-10262G>A (n.1402-10262G>A)
c.2307G>A (p.Gln769=)
c.2487G>A (p.Gln829=)
c.2154G>A (p.Gln718=)
 ClinVar
7g.117592564G>CCA368981125CFTRc.2397G>C (p.Gln799His)
c.*2111G>C (n.*2111G>C)
c.2214G>C (p.Gln738His)
c.*697G>C (n.*697G>C)
c.*2221G>C (n.*2221G>C)
c.1971G>C (p.Gln657His)
c.47G>C
c.1402-10262G>C (n.1402-10262G>C)
c.2307G>C (p.Gln769His)
c.2487G>C (p.Gln829His)
c.2154G>C (p.Gln718His)
7g.117592564G>TCA368981127CFTRc.2397G>T (p.Gln799His)
c.*2111G>T (n.*2111G>T)
c.2214G>T (p.Gln738His)
c.*697G>T (n.*697G>T)
c.*2221G>T (n.*2221G>T)
c.1971G>T (p.Gln657His)
c.47G>T
c.1402-10262G>T (n.1402-10262G>T)
c.2307G>T (p.Gln769His)
c.2487G>T (p.Gln829His)
c.2154G>T (p.Gln718His)
7g.117592565G>ACA368981128CFTRc.2398G>A (p.Ala800Thr)
c.*2112G>A (n.*2112G>A)
c.2215G>A (p.Ala739Thr)
c.*698G>A (n.*698G>A)
c.*2222G>A (n.*2222G>A)
c.1972G>A (p.Ala658Thr)
c.48G>A
c.1402-10261G>A (n.1402-10261G>A)
c.2308G>A (p.Ala770Thr)
c.2488G>A (p.Ala830Thr)
c.2155G>A (p.Ala719Thr)
 gnomAD v4
7g.117592565G>CCA368981129CFTRc.2398G>C (p.Ala800Pro)
c.*2112G>C (n.*2112G>C)
c.2215G>C (p.Ala739Pro)
c.*698G>C (n.*698G>C)
c.*2222G>C (n.*2222G>C)
c.1972G>C (p.Ala658Pro)
c.48G>C
c.1402-10261G>C (n.1402-10261G>C)
c.2308G>C (p.Ala770Pro)
c.2488G>C (p.Ala830Pro)
c.2155G>C (p.Ala719Pro)
7g.117592565G=CA1737395515CFTRc.2398G= (p.Ala800=)
c.*2112G= (n.*2112G=)
c.2215G= (p.Ala739=)
c.*698G= (n.*698G=)
c.*2222G= (n.*2222G=)
c.1972G= (p.Ala658=)
c.48G=
c.1402-10261G= (n.1402-10261G=)
c.2308G= (p.Ala770=)
c.2488G= (p.Ala830=)
c.2155G= (p.Ala719=)
7g.117592565G>TCA4451179CFTRc.2398G>T (p.Ala800Ser)
c.*2112G>T (n.*2112G>T)
c.2215G>T (p.Ala739Ser)
c.*698G>T (n.*698G>T)
c.*2222G>T (n.*2222G>T)
c.1972G>T (p.Ala658Ser)
c.48G>T
c.1402-10261G>T (n.1402-10261G>T)
c.2308G>T (p.Ala770Ser)
c.2488G>T (p.Ala830Ser)
c.2155G>T (p.Ala719Ser)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592566C>ACA368981132CFTRc.2399C>A (p.Ala800Glu)
c.*2113C>A (n.*2113C>A)
c.2216C>A (p.Ala739Glu)
c.*699C>A (n.*699C>A)
c.*2223C>A (n.*2223C>A)
c.1973C>A (p.Ala658Glu)
c.49C>A
c.1402-10260C>A (n.1402-10260C>A)
c.2309C>A (p.Ala770Glu)
c.2489C>A (p.Ala830Glu)
c.2156C>A (p.Ala719Glu)
 ClinVar gnomAD v4
7g.117592566C=CA1737395519CFTRc.2399C= (p.Ala800=)
c.*2113C= (n.*2113C=)
c.2216C= (p.Ala739=)
c.*699C= (n.*699C=)
c.*2223C= (n.*2223C=)
c.1973C= (p.Ala658=)
c.49C=
c.1402-10260C= (n.1402-10260C=)
c.2309C= (p.Ala770=)
c.2489C= (p.Ala830=)
c.2156C= (p.Ala719=)
7g.117592566C>GCA326810CFTRc.2399C>G (p.Ala800Gly)
c.*2113C>G (n.*2113C>G)
c.2216C>G (p.Ala739Gly)
c.*699C>G (n.*699C>G)
c.*2223C>G (n.*2223C>G)
c.1973C>G (p.Ala658Gly)
c.49C>G
c.1402-10260C>G (n.1402-10260C>G)
c.2309C>G (p.Ala770Gly)
c.2489C>G (p.Ala830Gly)
c.2156C>G (p.Ala719Gly)
 ClinVar dbSNP
7g.117592566C>TCA368981134CFTRc.2399C>T (p.Ala800Val)
c.*2113C>T (n.*2113C>T)
c.2216C>T (p.Ala739Val)
c.*699C>T (n.*699C>T)
c.*2223C>T (n.*2223C>T)
c.1973C>T (p.Ala658Val)
c.49C>T
c.1402-10260C>T (n.1402-10260C>T)
c.2309C>T (p.Ala770Val)
c.2489C>T (p.Ala830Val)
c.2156C>T (p.Ala719Val)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592567A=CA1737395524CFTRc.2400A= (p.Ala800=)
c.*2114A= (n.*2114A=)
c.2217A= (p.Ala739=)
c.*700A= (n.*700A=)
c.*2224A= (n.*2224A=)
c.1974A= (p.Ala658=)
c.50A=
c.1402-10259A= (n.1402-10259A=)
c.2310A= (p.Ala770=)
c.2490A= (p.Ala830=)
c.2157A= (p.Ala719=)
7g.117592567A>CCA457448924CFTRc.2400A>C (p.Ala800=)
c.*2114A>C (n.*2114A>C)
c.2217A>C (p.Ala739=)
c.*700A>C (n.*700A>C)
c.*2224A>C (n.*2224A>C)
c.1974A>C (p.Ala658=)
c.50A>C
c.1402-10259A>C (n.1402-10259A>C)
c.2310A>C (p.Ala770=)
c.2490A>C (p.Ala830=)
c.2157A>C (p.Ala719=)
7g.117592567A>GCA457448925CFTRc.2400A>G (p.Ala800=)
c.*2114A>G (n.*2114A>G)
c.2217A>G (p.Ala739=)
c.*700A>G (n.*700A>G)
c.*2224A>G (n.*2224A>G)
c.1974A>G (p.Ala658=)
c.50A>G
c.1402-10259A>G (n.1402-10259A>G)
c.2310A>G (p.Ala770=)
c.2490A>G (p.Ala830=)
c.2157A>G (p.Ala719=)
7g.117592567A>TCA164948307CFTRc.2400A>T (p.Ala800=)
c.*2114A>T (n.*2114A>T)
c.2217A>T (p.Ala739=)
c.*700A>T (n.*700A>T)
c.*2224A>T (n.*2224A>T)
c.1974A>T (p.Ala658=)
c.50A>T
c.1402-10259A>T (n.1402-10259A>T)
c.2310A>T (p.Ala770=)
c.2490A>T (p.Ala830=)
c.2157A>T (p.Ala719=)
 dbSNP
7g.117592568A=CA1737395527CFTRc.2401A= (p.Asn801=)
c.*2115A= (n.*2115A=)
c.2218A= (p.Asn740=)
c.*701A= (n.*701A=)
c.*2225A= (n.*2225A=)
c.1975A= (p.Asn659=)
c.51A=
c.1402-10258A= (n.1402-10258A=)
c.2311A= (p.Asn771=)
c.2491A= (p.Asn831=)
c.2158A= (p.Asn720=)
7g.117592568A>CCA368981138CFTRc.2401A>C (p.Asn801His)
c.*2115A>C (n.*2115A>C)
c.2218A>C (p.Asn740His)
c.*701A>C (n.*701A>C)
c.*2225A>C (n.*2225A>C)
c.1975A>C (p.Asn659His)
c.51A>C
c.1402-10258A>C (n.1402-10258A>C)
c.2311A>C (p.Asn771His)
c.2491A>C (p.Asn831His)
c.2158A>C (p.Asn720His)
7g.117592568A>GCA368981141CFTRc.2401A>G (p.Asn801Asp)
c.*2115A>G (n.*2115A>G)
c.2218A>G (p.Asn740Asp)
c.*701A>G (n.*701A>G)
c.*2225A>G (n.*2225A>G)
c.1975A>G (p.Asn659Asp)
c.51A>G
c.1402-10258A>G (n.1402-10258A>G)
c.2311A>G (p.Asn771Asp)
c.2491A>G (p.Asn831Asp)
c.2158A>G (p.Asn720Asp)
7g.117592568A>TCA368981139CFTRc.2401A>T (p.Asn801Tyr)
c.*2115A>T (n.*2115A>T)
c.2218A>T (p.Asn740Tyr)
c.*701A>T (n.*701A>T)
c.*2225A>T (n.*2225A>T)
c.1975A>T (p.Asn659Tyr)
c.51A>T
c.1402-10258A>T (n.1402-10258A>T)
c.2311A>T (p.Asn771Tyr)
c.2491A>T (p.Asn831Tyr)
c.2158A>T (p.Asn720Tyr)
 dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592569A=CA1737395533CFTRc.2402A= (p.Asn801=)
c.*2116A= (n.*2116A=)
c.2219A= (p.Asn740=)
c.*702A= (n.*702A=)
c.*2226A= (n.*2226A=)
c.1976A= (p.Asn659=)
c.52A=
c.1402-10257A= (n.1402-10257A=)
c.2312A= (p.Asn771=)
c.2492A= (p.Asn831=)
c.2159A= (p.Asn720=)
7g.117592569A>CCA368981142CFTRc.2402A>C (p.Asn801Thr)
c.*2116A>C (n.*2116A>C)
c.2219A>C (p.Asn740Thr)
c.*702A>C (n.*702A>C)
c.*2226A>C (n.*2226A>C)
c.1976A>C (p.Asn659Thr)
c.52A>C
c.1402-10257A>C (n.1402-10257A>C)
c.2312A>C (p.Asn771Thr)
c.2492A>C (p.Asn831Thr)
c.2159A>C (p.Asn720Thr)
7g.117592569A>GCA368981144CFTRc.2402A>G (p.Asn801Ser)
c.*2116A>G (n.*2116A>G)
c.2219A>G (p.Asn740Ser)
c.*702A>G (n.*702A>G)
c.*2226A>G (n.*2226A>G)
c.1976A>G (p.Asn659Ser)
c.52A>G
c.1402-10257A>G (n.1402-10257A>G)
c.2312A>G (p.Asn771Ser)
c.2492A>G (p.Asn831Ser)
c.2159A>G (p.Asn720Ser)
 ClinVar dbSNP
7g.117592569A>TCA368981146CFTRc.2402A>T (p.Asn801Ile)
c.*2116A>T (n.*2116A>T)
c.2219A>T (p.Asn740Ile)
c.*702A>T (n.*702A>T)
c.*2226A>T (n.*2226A>T)
c.1976A>T (p.Asn659Ile)
c.52A>T
c.1402-10257A>T (n.1402-10257A>T)
c.2312A>T (p.Asn771Ile)
c.2492A>T (p.Asn831Ile)
c.2159A>T (p.Asn720Ile)
 ClinVar gnomAD v4
7g.117592570C>ACA368981147CFTRc.2403C>A (p.Asn801Lys)
c.*2117C>A (n.*2117C>A)
c.2220C>A (p.Asn740Lys)
c.*703C>A (n.*703C>A)
c.*2227C>A (n.*2227C>A)
c.1977C>A (p.Asn659Lys)
c.53C>A
c.1402-10256C>A (n.1402-10256C>A)
c.2313C>A (p.Asn771Lys)
c.2493C>A (p.Asn831Lys)
c.2160C>A (p.Asn720Lys)
7g.117592570C=CA1737395537CFTRc.2403C= (p.Asn801=)
c.*2117C= (n.*2117C=)
c.2220C= (p.Asn740=)
c.*703C= (n.*703C=)
c.*2227C= (n.*2227C=)
c.1977C= (p.Asn659=)
c.53C=
c.1402-10256C= (n.1402-10256C=)
c.2313C= (p.Asn771=)
c.2493C= (p.Asn831=)
c.2160C= (p.Asn720=)
7g.117592570C>GCA368981148CFTRc.2403C>G (p.Asn801Lys)
c.*2117C>G (n.*2117C>G)
c.2220C>G (p.Asn740Lys)
c.*703C>G (n.*703C>G)
c.*2227C>G (n.*2227C>G)
c.1977C>G (p.Asn659Lys)
c.53C>G
c.1402-10256C>G (n.1402-10256C>G)
c.2313C>G (p.Asn771Lys)
c.2493C>G (p.Asn831Lys)
c.2160C>G (p.Asn720Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592570C>TCA4451180CFTRc.2403C>T (p.Asn801=)
c.*2117C>T (n.*2117C>T)
c.2220C>T (p.Asn740=)
c.*703C>T (n.*703C>T)
c.*2227C>T (n.*2227C>T)
c.1977C>T (p.Asn659=)
c.53C>T
c.1402-10256C>T (n.1402-10256C>T)
c.2313C>T (p.Asn771=)
c.2493C>T (p.Asn831=)
c.2160C>T (p.Asn720=)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592571T>ACA368981149CFTRc.2404T>A (p.Leu802Met)
c.*2118T>A (n.*2118T>A)
c.2221T>A (p.Leu741Met)
c.*704T>A (n.*704T>A)
c.*2228T>A (n.*2228T>A)
c.1978T>A (p.Leu660Met)
c.54T>A
c.1402-10255T>A (n.1402-10255T>A)
c.2314T>A (p.Leu772Met)
c.2494T>A (p.Leu832Met)
c.2161T>A (p.Leu721Met)
7g.117592571T>CCA457448929CFTRc.2404T>C (p.Leu802=)
c.*2118T>C (n.*2118T>C)
c.2221T>C (p.Leu741=)
c.*704T>C (n.*704T>C)
c.*2228T>C (n.*2228T>C)
c.1978T>C (p.Leu660=)
c.54T>C
c.1402-10255T>C (n.1402-10255T>C)
c.2314T>C (p.Leu772=)
c.2494T>C (p.Leu832=)
c.2161T>C (p.Leu721=)
7g.117592571T>GCA368981151CFTRc.2404T>G (p.Leu802Val)
c.*2118T>G (n.*2118T>G)
c.2221T>G (p.Leu741Val)
c.*704T>G (n.*704T>G)
c.*2228T>G (n.*2228T>G)
c.1978T>G (p.Leu660Val)
c.54T>G
c.1402-10255T>G (n.1402-10255T>G)
c.2314T>G (p.Leu772Val)
c.2494T>G (p.Leu832Val)
c.2161T>G (p.Leu721Val)
 ClinVar
7g.117592572T>ACA368981152CFTRc.2405T>A (p.Leu802Ter)
c.*2119T>A (n.*2119T>A)
c.2222T>A (p.Leu741Ter)
c.*705T>A (n.*705T>A)
c.*2229T>A (n.*2229T>A)
c.1979T>A (p.Leu660Ter)
c.55T>A
c.1402-10254T>A (n.1402-10254T>A)
c.2315T>A (p.Leu772Ter)
c.2495T>A (p.Leu832Ter)
c.2162T>A (p.Leu721Ter)
7g.117592572T>CCA368981153CFTRc.2405T>C (p.Leu802Ser)
c.*2119T>C (n.*2119T>C)
c.2222T>C (p.Leu741Ser)
c.*705T>C (n.*705T>C)
c.*2229T>C (n.*2229T>C)
c.1979T>C (p.Leu660Ser)
c.55T>C
c.1402-10254T>C (n.1402-10254T>C)
c.2315T>C (p.Leu772Ser)
c.2495T>C (p.Leu832Ser)
c.2162T>C (p.Leu721Ser)
 gnomAD v4
7g.117592572T>GCA368981155CFTRc.2405T>G (p.Leu802Trp)
c.*2119T>G (n.*2119T>G)
c.2222T>G (p.Leu741Trp)
c.*705T>G (n.*705T>G)
c.*2229T>G (n.*2229T>G)
c.1979T>G (p.Leu660Trp)
c.55T>G
c.1402-10254T>G (n.1402-10254T>G)
c.2315T>G (p.Leu772Trp)
c.2495T>G (p.Leu832Trp)
c.2162T>G (p.Leu721Trp)
7g.117592573G>ACA457448932CFTRc.2406G>A (p.Leu802=)
c.*2120G>A (n.*2120G>A)
c.2223G>A (p.Leu741=)
c.*706G>A (n.*706G>A)
c.*2230G>A (n.*2230G>A)
c.1980G>A (p.Leu660=)
c.56G>A
c.1402-10253G>A (n.1402-10253G>A)
c.2316G>A (p.Leu772=)
c.2496G>A (p.Leu832=)
c.2163G>A (p.Leu721=)
7g.117592573G>CCA368981156CFTRc.2406G>C (p.Leu802Phe)
c.*2120G>C (n.*2120G>C)
c.2223G>C (p.Leu741Phe)
c.*706G>C (n.*706G>C)
c.*2230G>C (n.*2230G>C)
c.1980G>C (p.Leu660Phe)
c.56G>C
c.1402-10253G>C (n.1402-10253G>C)
c.2316G>C (p.Leu772Phe)
c.2496G>C (p.Leu832Phe)
c.2163G>C (p.Leu721Phe)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592573G=CA1737395540CFTRc.2406G= (p.Leu802=)
c.*2120G= (n.*2120G=)
c.2223G= (p.Leu741=)
c.*706G= (n.*706G=)
c.*2230G= (n.*2230G=)
c.1980G= (p.Leu660=)
c.56G=
c.1402-10253G= (n.1402-10253G=)
c.2316G= (p.Leu772=)
c.2496G= (p.Leu832=)
c.2163G= (p.Leu721=)
7g.117592573G>TCA368981157CFTRc.2406G>T (p.Leu802Phe)
c.*2120G>T (n.*2120G>T)
c.2223G>T (p.Leu741Phe)
c.*706G>T (n.*706G>T)
c.*2230G>T (n.*2230G>T)
c.1980G>T (p.Leu660Phe)
c.56G>T
c.1402-10253G>T (n.1402-10253G>T)
c.2316G>T (p.Leu772Phe)
c.2496G>T (p.Leu832Phe)
c.2163G>T (p.Leu721Phe)
 gnomAD v4
7g.117592574A=CA1737395543CFTRc.2407A= (p.Thr803=)
c.*2121A= (n.*2121A=)
c.2224A= (p.Thr742=)
c.*707A= (n.*707A=)
c.*2231A= (n.*2231A=)
c.1981A= (p.Thr661=)
c.57A=
c.1402-10252A= (n.1402-10252A=)
c.2317A= (p.Thr773=)
c.2497A= (p.Thr833=)
c.2164A= (p.Thr722=)
7g.117592574A>CCA368981159CFTRc.2407A>C (p.Thr803Pro)
c.*2121A>C (n.*2121A>C)
c.2224A>C (p.Thr742Pro)
c.*707A>C (n.*707A>C)
c.*2231A>C (n.*2231A>C)
c.1981A>C (p.Thr661Pro)
c.57A>C
c.1402-10252A>C (n.1402-10252A>C)
c.2317A>C (p.Thr773Pro)
c.2497A>C (p.Thr833Pro)
c.2164A>C (p.Thr722Pro)
7g.117592574A>GCA368981163CFTRc.2407A>G (p.Thr803Ala)
c.*2121A>G (n.*2121A>G)
c.2224A>G (p.Thr742Ala)
c.*707A>G (n.*707A>G)
c.*2231A>G (n.*2231A>G)
c.1981A>G (p.Thr661Ala)
c.57A>G
c.1402-10252A>G (n.1402-10252A>G)
c.2317A>G (p.Thr773Ala)
c.2497A>G (p.Thr833Ala)
c.2164A>G (p.Thr722Ala)
7g.117592574A>TCA368981161CFTRc.2407A>T (p.Thr803Ser)
c.*2121A>T (n.*2121A>T)
c.2224A>T (p.Thr742Ser)
c.*707A>T (n.*707A>T)
c.*2231A>T (n.*2231A>T)
c.1981A>T (p.Thr661Ser)
c.57A>T
c.1402-10252A>T (n.1402-10252A>T)
c.2317A>T (p.Thr773Ser)
c.2497A>T (p.Thr833Ser)
c.2164A>T (p.Thr722Ser)
 ClinVar dbSNP
7g.117592575C>ACA368981165CFTRc.2408C>A (p.Thr803Asn)
c.*2122C>A (n.*2122C>A)
c.2225C>A (p.Thr742Asn)
c.*708C>A (n.*708C>A)
c.*2232C>A (n.*2232C>A)
c.1982C>A (p.Thr661Asn)
c.58C>A
c.1402-10251C>A (n.1402-10251C>A)
c.2318C>A (p.Thr773Asn)
c.2498C>A (p.Thr833Asn)
c.2165C>A (p.Thr722Asn)
7g.117592575C>GCA368981167CFTRc.2408C>G (p.Thr803Ser)
c.*2122C>G (n.*2122C>G)
c.2225C>G (p.Thr742Ser)
c.*708C>G (n.*708C>G)
c.*2232C>G (n.*2232C>G)
c.1982C>G (p.Thr661Ser)
c.58C>G
c.1402-10251C>G (n.1402-10251C>G)
c.2318C>G (p.Thr773Ser)
c.2498C>G (p.Thr833Ser)
c.2165C>G (p.Thr722Ser)
7g.117592575C>TCA368981168CFTRc.2408C>T (p.Thr803Ile)
c.*2122C>T (n.*2122C>T)
c.2225C>T (p.Thr742Ile)
c.*708C>T (n.*708C>T)
c.*2232C>T (n.*2232C>T)
c.1982C>T (p.Thr661Ile)
c.58C>T
c.1402-10251C>T (n.1402-10251C>T)
c.2318C>T (p.Thr773Ile)
c.2498C>T (p.Thr833Ile)
c.2165C>T (p.Thr722Ile)
 gnomAD v4
7g.117592576T>ACA457448935CFTRc.2409T>A (p.Thr803=)
c.*2123T>A (n.*2123T>A)
c.2226T>A (p.Thr742=)
c.*709T>A (n.*709T>A)
c.*2233T>A (n.*2233T>A)
c.1983T>A (p.Thr661=)
c.59T>A
c.1402-10250T>A (n.1402-10250T>A)
c.2319T>A (p.Thr773=)
c.2499T>A (p.Thr833=)
c.2166T>A (p.Thr722=)
7g.117592576T>CCA457448936CFTRc.2409T>C (p.Thr803=)
c.*2123T>C (n.*2123T>C)
c.2226T>C (p.Thr742=)
c.*709T>C (n.*709T>C)
c.*2233T>C (n.*2233T>C)
c.1983T>C (p.Thr661=)
c.59T>C
c.1402-10250T>C (n.1402-10250T>C)
c.2319T>C (p.Thr773=)
c.2499T>C (p.Thr833=)
c.2166T>C (p.Thr722=)
 gnomAD v4
7g.117592576T>GCA457448938CFTRc.2409T>G (p.Thr803=)
c.*2123T>G (n.*2123T>G)
c.2226T>G (p.Thr742=)
c.*709T>G (n.*709T>G)
c.*2233T>G (n.*2233T>G)
c.1983T>G (p.Thr661=)
c.59T>G
c.1402-10250T>G (n.1402-10250T>G)
c.2319T>G (p.Thr773=)
c.2499T>G (p.Thr833=)
c.2166T>G (p.Thr722=)
 gnomAD v4
7g.117592577G>ACA368981169CFTRc.2410G>A (p.Glu804Lys)
c.*2124G>A (n.*2124G>A)
c.2227G>A (p.Glu743Lys)
c.*710G>A (n.*710G>A)
c.*2234G>A (n.*2234G>A)
c.1984G>A (p.Glu662Lys)
c.1G>A (p.Glu1Lys)
c.60G>A
c.1402-10249G>A (n.1402-10249G>A)
c.2320G>A (p.Glu774Lys)
c.2500G>A (p.Glu834Lys)
c.2167G>A (p.Glu723Lys)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592577G>CCA368981171CFTRc.2410G>C (p.Glu804Gln)
c.*2124G>C (n.*2124G>C)
c.2227G>C (p.Glu743Gln)
c.*710G>C (n.*710G>C)
c.*2234G>C (n.*2234G>C)
c.1984G>C (p.Glu662Gln)
c.1G>C (p.Glu1Gln)
c.60G>C
c.1402-10249G>C (n.1402-10249G>C)
c.2320G>C (p.Glu774Gln)
c.2500G>C (p.Glu834Gln)
c.2167G>C (p.Glu723Gln)
7g.117592577G=CA1737395553CFTRc.2410G= (p.Glu804=)
c.*2124G= (n.*2124G=)
c.2227G= (p.Glu743=)
c.*710G= (n.*710G=)
c.*2234G= (n.*2234G=)
c.1984G= (p.Glu662=)
c.1G= (p.Glu1=)
c.60G=
c.1402-10249G= (n.1402-10249G=)
c.2320G= (p.Glu774=)
c.2500G= (p.Glu834=)
c.2167G= (p.Glu723=)
7g.117592577G>TCA368981172CFTRc.2410G>T (p.Glu804Ter)
c.*2124G>T (n.*2124G>T)
c.2227G>T (p.Glu743Ter)
c.*710G>T (n.*710G>T)
c.*2234G>T (n.*2234G>T)
c.1984G>T (p.Glu662Ter)
c.1G>T (p.Glu1Ter)
c.60G>T
c.1402-10249G>T (n.1402-10249G>T)
c.2320G>T (p.Glu774Ter)
c.2500G>T (p.Glu834Ter)
c.2167G>T (p.Glu723Ter)
 ClinVar dbSNP
7g.117592578A=CA1737395556CFTRc.2411A= (p.Glu804=)
c.*2125A= (n.*2125A=)
c.2228A= (p.Glu743=)
c.*711A= (n.*711A=)
c.*2235A= (n.*2235A=)
c.1985A= (p.Glu662=)
c.2A= (p.Glu1=)
c.61A=
c.1402-10248A= (n.1402-10248A=)
c.2321A= (p.Glu774=)
c.2501A= (p.Glu834=)
c.2168A= (p.Glu723=)
7g.117592578A>CCA368981173CFTRc.2411A>C (p.Glu804Ala)
c.*2125A>C (n.*2125A>C)
c.2228A>C (p.Glu743Ala)
c.*711A>C (n.*711A>C)
c.*2235A>C (n.*2235A>C)
c.1985A>C (p.Glu662Ala)
c.2A>C (p.Glu1Ala)
c.61A>C
c.1402-10248A>C (n.1402-10248A>C)
c.2321A>C (p.Glu774Ala)
c.2501A>C (p.Glu834Ala)
c.2168A>C (p.Glu723Ala)
7g.117592578A>GCA368981175CFTRc.2411A>G (p.Glu804Gly)
c.*2125A>G (n.*2125A>G)
c.2228A>G (p.Glu743Gly)
c.*711A>G (n.*711A>G)
c.*2235A>G (n.*2235A>G)
c.1985A>G (p.Glu662Gly)
c.2A>G (p.Glu1Gly)
c.61A>G
c.1402-10248A>G (n.1402-10248A>G)
c.2321A>G (p.Glu774Gly)
c.2501A>G (p.Glu834Gly)
c.2168A>G (p.Glu723Gly)
7g.117592578A>TCA326811CFTRc.2411A>T (p.Glu804Val)
c.*2125A>T (n.*2125A>T)
c.2228A>T (p.Glu743Val)
c.*711A>T (n.*711A>T)
c.*2235A>T (n.*2235A>T)
c.1985A>T (p.Glu662Val)
c.2A>T (p.Glu1Val)
c.61A>T
c.1402-10248A>T (n.1402-10248A>T)
c.2321A>T (p.Glu774Val)
c.2501A>T (p.Glu834Val)
c.2168A>T (p.Glu723Val)
 ClinVar dbSNP
7g.117592579A=CA1737395559CFTRc.2412A= (p.Glu804=)
c.*2126A= (n.*2126A=)
c.2229A= (p.Glu743=)
c.*712A= (n.*712A=)
c.*2236A= (n.*2236A=)
c.1986A= (p.Glu662=)
c.3A= (p.Glu1=)
c.62A=
c.1402-10247A= (n.1402-10247A=)
c.2322A= (p.Glu774=)
c.2502A= (p.Glu834=)
c.2169A= (p.Glu723=)
7g.117592579A>CCA368981178CFTRc.2412A>C (p.Glu804Asp)
c.*2126A>C (n.*2126A>C)
c.2229A>C (p.Glu743Asp)
c.*712A>C (n.*712A>C)
c.*2236A>C (n.*2236A>C)
c.1986A>C (p.Glu662Asp)
c.3A>C (p.Glu1Asp)
c.62A>C
c.1402-10247A>C (n.1402-10247A>C)
c.2322A>C (p.Glu774Asp)
c.2502A>C (p.Glu834Asp)
c.2169A>C (p.Glu723Asp)
 dbSNP
7g.117592579A>GCA457448940CFTRc.2412A>G (p.Glu804=)
c.*2126A>G (n.*2126A>G)
c.2229A>G (p.Glu743=)
c.*712A>G (n.*712A>G)
c.*2236A>G (n.*2236A>G)
c.1986A>G (p.Glu662=)
c.3A>G (p.Glu1=)
c.62A>G
c.1402-10247A>G (n.1402-10247A>G)
c.2322A>G (p.Glu774=)
c.2502A>G (p.Glu834=)
c.2169A>G (p.Glu723=)
 dbSNP gnomAD v4
7g.117592579A>TCA368981179CFTRc.2412A>T (p.Glu804Asp)
c.*2126A>T (n.*2126A>T)
c.2229A>T (p.Glu743Asp)
c.*712A>T (n.*712A>T)
c.*2236A>T (n.*2236A>T)
c.1986A>T (p.Glu662Asp)
c.3A>T (p.Glu1Asp)
c.62A>T
c.1402-10247A>T (n.1402-10247A>T)
c.2322A>T (p.Glu774Asp)
c.2502A>T (p.Glu834Asp)
c.2169A>T (p.Glu723Asp)
7g.117592580C>ACA368981182CFTRc.2413C>A (p.Leu805Met)
c.*2127C>A (n.*2127C>A)
c.2230C>A (p.Leu744Met)
c.*713C>A (n.*713C>A)
c.*2237C>A (n.*2237C>A)
c.1987C>A (p.Leu663Met)
c.4C>A (p.Leu2Met)
c.63C>A
c.1402-10246C>A (n.1402-10246C>A)
c.2323C>A (p.Leu775Met)
c.2503C>A (p.Leu835Met)
c.2170C>A (p.Leu724Met)
 gnomAD v4
7g.117592580C>GCA368981181CFTRc.2413C>G (p.Leu805Val)
c.*2127C>G (n.*2127C>G)
c.2230C>G (p.Leu744Val)
c.*713C>G (n.*713C>G)
c.*2237C>G (n.*2237C>G)
c.1987C>G (p.Leu663Val)
c.4C>G (p.Leu2Val)
c.63C>G
c.1402-10246C>G (n.1402-10246C>G)
c.2323C>G (p.Leu775Val)
c.2503C>G (p.Leu835Val)
c.2170C>G (p.Leu724Val)
7g.117592580C>TCA457448942CFTRc.2413C>T (p.Leu805=)
c.*2127C>T (n.*2127C>T)
c.2230C>T (p.Leu744=)
c.*713C>T (n.*713C>T)
c.*2237C>T (n.*2237C>T)
c.1987C>T (p.Leu663=)
c.4C>T (p.Leu2=)
c.63C>T
c.1402-10246C>T (n.1402-10246C>T)
c.2323C>T (p.Leu775=)
c.2503C>T (p.Leu835=)
c.2170C>T (p.Leu724=)
 ClinVar dbSNP gnomAD v4
7g.117592581T>ACA368981183CFTRc.2414T>A (p.Leu805Gln)
c.*2128T>A (n.*2128T>A)
c.2231T>A (p.Leu744Gln)
c.*714T>A (n.*714T>A)
c.*2238T>A (n.*2238T>A)
c.1988T>A (p.Leu663Gln)
c.5T>A (p.Leu2Gln)
c.64T>A
c.1402-10245T>A (n.1402-10245T>A)
c.2324T>A (p.Leu775Gln)
c.2504T>A (p.Leu835Gln)
c.2171T>A (p.Leu724Gln)
7g.117592581T>CCA368981184CFTRc.2414T>C (p.Leu805Pro)
c.*2128T>C (n.*2128T>C)
c.2231T>C (p.Leu744Pro)
c.*714T>C (n.*714T>C)
c.*2238T>C (n.*2238T>C)
c.1988T>C (p.Leu663Pro)
c.5T>C (p.Leu2Pro)
c.64T>C
c.1402-10245T>C (n.1402-10245T>C)
c.2324T>C (p.Leu775Pro)
c.2504T>C (p.Leu835Pro)
c.2171T>C (p.Leu724Pro)
7g.117592581T>GCA368981187CFTRc.2414T>G (p.Leu805Arg)
c.*2128T>G (n.*2128T>G)
c.2231T>G (p.Leu744Arg)
c.*714T>G (n.*714T>G)
c.*2238T>G (n.*2238T>G)
c.1988T>G (p.Leu663Arg)
c.5T>G (p.Leu2Arg)
c.64T>G
c.1402-10245T>G (n.1402-10245T>G)
c.2324T>G (p.Leu775Arg)
c.2504T>G (p.Leu835Arg)
c.2171T>G (p.Leu724Arg)
7g.117592582G>ACA457448943CFTRc.2415G>A (p.Leu805=)
c.*2129G>A (n.*2129G>A)
c.2232G>A (p.Leu744=)
c.*715G>A (n.*715G>A)
c.*2239G>A (n.*2239G>A)
c.1989G>A (p.Leu663=)
c.6G>A (p.Leu2=)
c.65G>A
c.1402-10244G>A (n.1402-10244G>A)
c.2325G>A (p.Leu775=)
c.2505G>A (p.Leu835=)
c.2172G>A (p.Leu724=)
7g.117592582G>CCA457448944CFTRc.2415G>C (p.Leu805=)
c.*2129G>C (n.*2129G>C)
c.2232G>C (p.Leu744=)
c.*715G>C (n.*715G>C)
c.*2239G>C (n.*2239G>C)
c.1989G>C (p.Leu663=)
c.6G>C (p.Leu2=)
c.65G>C
c.1402-10244G>C (n.1402-10244G>C)
c.2325G>C (p.Leu775=)
c.2505G>C (p.Leu835=)
c.2172G>C (p.Leu724=)
 ClinVar
7g.117592582G>TCA457448945CFTRc.2415G>T (p.Leu805=)
c.*2129G>T (n.*2129G>T)
c.2232G>T (p.Leu744=)
c.*715G>T (n.*715G>T)
c.*2239G>T (n.*2239G>T)
c.1989G>T (p.Leu663=)
c.6G>T (p.Leu2=)
c.65G>T
c.1402-10244G>T (n.1402-10244G>T)
c.2325G>T (p.Leu775=)
c.2505G>T (p.Leu835=)
c.2172G>T (p.Leu724=)
7g.117592583G>ACA368981189CFTRc.2416G>A (p.Asp806Asn)
c.*2130G>A (n.*2130G>A)
c.2233G>A (p.Asp745Asn)
c.*716G>A (n.*716G>A)
c.*2240G>A (n.*2240G>A)
c.1990G>A (p.Asp664Asn)
c.7G>A (p.Asp3Asn)
c.66G>A
c.1402-10243G>A (n.1402-10243G>A)
c.2326G>A (p.Asp776Asn)
c.2506G>A (p.Asp836Asn)
c.2173G>A (p.Asp725Asn)
 COSMIC
7g.117592583G>CCA368981191CFTRc.2416G>C (p.Asp806His)
c.*2130G>C (n.*2130G>C)
c.2233G>C (p.Asp745His)
c.*716G>C (n.*716G>C)
c.*2240G>C (n.*2240G>C)
c.1990G>C (p.Asp664His)
c.7G>C (p.Asp3His)
c.66G>C
c.1402-10243G>C (n.1402-10243G>C)
c.2326G>C (p.Asp776His)
c.2506G>C (p.Asp836His)
c.2173G>C (p.Asp725His)
7g.117592583G=CA1737395563CFTRc.2416G= (p.Asp806=)
c.*2130G= (n.*2130G=)
c.2233G= (p.Asp745=)
c.*716G= (n.*716G=)
c.*2240G= (n.*2240G=)
c.1990G= (p.Asp664=)
c.7G= (p.Asp3=)
c.66G=
c.1402-10243G= (n.1402-10243G=)
c.2326G= (p.Asp776=)
c.2506G= (p.Asp836=)
c.2173G= (p.Asp725=)
7g.117592583G>TCA368981193CFTRc.2416G>T (p.Asp806Tyr)
c.*2130G>T (n.*2130G>T)
c.2233G>T (p.Asp745Tyr)
c.*716G>T (n.*716G>T)
c.*2240G>T (n.*2240G>T)
c.1990G>T (p.Asp664Tyr)
c.7G>T (p.Asp3Tyr)
c.66G>T
c.1402-10243G>T (n.1402-10243G>T)
c.2326G>T (p.Asp776Tyr)
c.2506G>T (p.Asp836Tyr)
c.2173G>T (p.Asp725Tyr)
7g.117592584A=CA1737395569CFTRc.2417A= (p.Asp806=)
c.*2131A= (n.*2131A=)
c.2234A= (p.Asp745=)
c.*717A= (n.*717A=)
c.*2241A= (n.*2241A=)
c.1991A= (p.Asp664=)
c.8A= (p.Asp3=)
c.67A=
c.1402-10242A= (n.1402-10242A=)
c.2327A= (p.Asp776=)
c.2507A= (p.Asp836=)
c.2174A= (p.Asp725=)
7g.117592584A>CCA368981196CFTRc.2417A>C (p.Asp806Ala)
c.*2131A>C (n.*2131A>C)
c.2234A>C (p.Asp745Ala)
c.*717A>C (n.*717A>C)
c.*2241A>C (n.*2241A>C)
c.1991A>C (p.Asp664Ala)
c.8A>C (p.Asp3Ala)
c.67A>C
c.1402-10242A>C (n.1402-10242A>C)
c.2327A>C (p.Asp776Ala)
c.2507A>C (p.Asp836Ala)
c.2174A>C (p.Asp725Ala)
7g.117592584A>GCA326813CFTRc.2417A>G (p.Asp806Gly)
c.*2131A>G (n.*2131A>G)
c.2234A>G (p.Asp745Gly)
c.*717A>G (n.*717A>G)
c.*2241A>G (n.*2241A>G)
c.1991A>G (p.Asp664Gly)
c.8A>G (p.Asp3Gly)
c.67A>G
c.1402-10242A>G (n.1402-10242A>G)
c.2327A>G (p.Asp776Gly)
c.2507A>G (p.Asp836Gly)
c.2174A>G (p.Asp725Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592584A>TCA368981195CFTRc.2417A>T (p.Asp806Val)
c.*2131A>T (n.*2131A>T)
c.2234A>T (p.Asp745Val)
c.*717A>T (n.*717A>T)
c.*2241A>T (n.*2241A>T)
c.1991A>T (p.Asp664Val)
c.8A>T (p.Asp3Val)
c.67A>T
c.1402-10242A>T (n.1402-10242A>T)
c.2327A>T (p.Asp776Val)
c.2507A>T (p.Asp836Val)
c.2174A>T (p.Asp725Val)
7g.117592590_117592591dupCA254109CFTRc.2423_2424dup (p.Ser809IlefsTer13)
c.*2137_*2138dup (n.*2137_*2138dup)
c.2240_2241dup (p.Ser748IlefsTer13)
c.*723_*724dup (n.*723_*724dup)
c.*2247_*2248dup (n.*2247_*2248dup)
c.1997_1998dup (p.Ser667IlefsTer13)
c.14_15dup (p.Ser6IlefsTer13)
c.73_74dup
c.1402-10236_1402-10235dup (n.1402-10236_1402-10235dup)
c.2333_2334dup (p.Ser779IlefsTer13)
c.2513_2514dup (p.Ser839IlefsTer13)
c.2180_2181dup (p.Ser728IlefsTer13)
 ClinVar dbSNP
7g.117592585T>ACA368981198CFTRc.2418T>A (p.Asp806Glu)
c.*2132T>A (n.*2132T>A)
c.2235T>A (p.Asp745Glu)
c.*718T>A (n.*718T>A)
c.*2242T>A (n.*2242T>A)
c.1992T>A (p.Asp664Glu)
c.9T>A (p.Asp3Glu)
c.68T>A
c.1402-10241T>A (n.1402-10241T>A)
c.2328T>A (p.Asp776Glu)
c.2508T>A (p.Asp836Glu)
c.2175T>A (p.Asp725Glu)
 ClinVar dbSNP
7g.117592585T>CCA457448950CFTRc.2418T>C (p.Asp806=)
c.*2132T>C (n.*2132T>C)
c.2235T>C (p.Asp745=)
c.*718T>C (n.*718T>C)
c.*2242T>C (n.*2242T>C)
c.1992T>C (p.Asp664=)
c.9T>C (p.Asp3=)
c.68T>C
c.1402-10241T>C (n.1402-10241T>C)
c.2328T>C (p.Asp776=)
c.2508T>C (p.Asp836=)
c.2175T>C (p.Asp725=)
7g.117592585T>GCA368981200CFTRc.2418T>G (p.Asp806Glu)
c.*2132T>G (n.*2132T>G)
c.2235T>G (p.Asp745Glu)
c.*718T>G (n.*718T>G)
c.*2242T>G (n.*2242T>G)
c.1992T>G (p.Asp664Glu)
c.9T>G (p.Asp3Glu)
c.68T>G
c.1402-10241T>G (n.1402-10241T>G)
c.2328T>G (p.Asp776Glu)
c.2508T>G (p.Asp836Glu)
c.2175T>G (p.Asp725Glu)
7g.117592585T=CA1737395573CFTRc.2418T= (p.Asp806=)
c.*2132T= (n.*2132T=)
c.2235T= (p.Asp745=)
c.*718T= (n.*718T=)
c.*2242T= (n.*2242T=)
c.1992T= (p.Asp664=)
c.9T= (p.Asp3=)
c.68T=
c.1402-10241T= (n.1402-10241T=)
c.2328T= (p.Asp776=)
c.2508T= (p.Asp836=)
c.2175T= (p.Asp725=)
7g.117592586A=CA1737395576CFTRc.2419A= (p.Ile807=)
c.*2133A= (n.*2133A=)
c.2236A= (p.Ile746=)
c.*719A= (n.*719A=)
c.*2243A= (n.*2243A=)
c.1993A= (p.Ile665=)
c.10A= (p.Ile4=)
c.69A=
c.1402-10240A= (n.1402-10240A=)
c.2329A= (p.Ile777=)
c.2509A= (p.Ile837=)
c.2176A= (p.Ile726=)
7g.117592586A>CCA368981203CFTRc.2419A>C (p.Ile807Leu)
c.*2133A>C (n.*2133A>C)
c.2236A>C (p.Ile746Leu)
c.*719A>C (n.*719A>C)
c.*2243A>C (n.*2243A>C)
c.1993A>C (p.Ile665Leu)
c.10A>C (p.Ile4Leu)
c.69A>C
c.1402-10240A>C (n.1402-10240A>C)
c.2329A>C (p.Ile777Leu)
c.2509A>C (p.Ile837Leu)
c.2176A>C (p.Ile726Leu)
7g.117592586A>GCA368981205CFTRc.2419A>G (p.Ile807Val)
c.*2133A>G (n.*2133A>G)
c.2236A>G (p.Ile746Val)
c.*719A>G (n.*719A>G)
c.*2243A>G (n.*2243A>G)
c.1993A>G (p.Ile665Val)
c.10A>G (p.Ile4Val)
c.69A>G
c.1402-10240A>G (n.1402-10240A>G)
c.2329A>G (p.Ile777Val)
c.2509A>G (p.Ile837Val)
c.2176A>G (p.Ile726Val)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592586A>TCA368981206CFTRc.2419A>T (p.Ile807Leu)
c.*2133A>T (n.*2133A>T)
c.2236A>T (p.Ile746Leu)
c.*719A>T (n.*719A>T)
c.*2243A>T (n.*2243A>T)
c.1993A>T (p.Ile665Leu)
c.10A>T (p.Ile4Leu)
c.69A>T
c.1402-10240A>T (n.1402-10240A>T)
c.2329A>T (p.Ile777Leu)
c.2509A>T (p.Ile837Leu)
c.2176A>T (p.Ile726Leu)
7g.117592587T>ACA368981210CFTRc.2420T>A (p.Ile807Lys)
c.*2134T>A (n.*2134T>A)
c.2237T>A (p.Ile746Lys)
c.*720T>A (n.*720T>A)
c.*2244T>A (n.*2244T>A)
c.1994T>A (p.Ile665Lys)
c.11T>A (p.Ile4Lys)
c.70T>A
c.1402-10239T>A (n.1402-10239T>A)
c.2330T>A (p.Ile777Lys)
c.2510T>A (p.Ile837Lys)
c.2177T>A (p.Ile726Lys)
7g.117592587T>CCA368981212CFTRc.2420T>C (p.Ile807Thr)
c.*2134T>C (n.*2134T>C)
c.2237T>C (p.Ile746Thr)
c.*720T>C (n.*720T>C)
c.*2244T>C (n.*2244T>C)
c.1994T>C (p.Ile665Thr)
c.11T>C (p.Ile4Thr)
c.70T>C
c.1402-10239T>C (n.1402-10239T>C)
c.2330T>C (p.Ile777Thr)
c.2510T>C (p.Ile837Thr)
c.2177T>C (p.Ile726Thr)
 ClinVar dbSNP
7g.117592587T>GCA368981208CFTRc.2420T>G (p.Ile807Arg)
c.*2134T>G (n.*2134T>G)
c.2237T>G (p.Ile746Arg)
c.*720T>G (n.*720T>G)
c.*2244T>G (n.*2244T>G)
c.1994T>G (p.Ile665Arg)
c.11T>G (p.Ile4Arg)
c.70T>G
c.1402-10239T>G (n.1402-10239T>G)
c.2330T>G (p.Ile777Arg)
c.2510T>G (p.Ile837Arg)
c.2177T>G (p.Ile726Arg)
7g.117592587T=CA1737395579CFTRc.2420T= (p.Ile807=)
c.*2134T= (n.*2134T=)
c.2237T= (p.Ile746=)
c.*720T= (n.*720T=)
c.*2244T= (n.*2244T=)
c.1994T= (p.Ile665=)
c.11T= (p.Ile4=)
c.70T=
c.1402-10239T= (n.1402-10239T=)
c.2330T= (p.Ile777=)
c.2510T= (p.Ile837=)
c.2177T= (p.Ile726=)
7g.117592588A=CA1737395586CFTRc.2421A= (p.Ile807=)
c.*2135A= (n.*2135A=)
c.2238A= (p.Ile746=)
c.*721A= (n.*721A=)
c.*2245A= (n.*2245A=)
c.1995A= (p.Ile665=)
c.12A= (p.Ile4=)
c.71A=
c.1402-10238A= (n.1402-10238A=)
c.2331A= (p.Ile777=)
c.2511A= (p.Ile837=)
c.2178A= (p.Ile726=)
7g.117592588A>CCA457448952CFTRc.2421A>C (p.Ile807=)
c.*2135A>C (n.*2135A>C)
c.2238A>C (p.Ile746=)
c.*721A>C (n.*721A>C)
c.*2245A>C (n.*2245A>C)
c.1995A>C (p.Ile665=)
c.12A>C (p.Ile4=)
c.71A>C
c.1402-10238A>C (n.1402-10238A>C)
c.2331A>C (p.Ile777=)
c.2511A>C (p.Ile837=)
c.2178A>C (p.Ile726=)
 ClinVar
7g.117592588A>GCA260217CFTRc.2421A>G (p.Ile807Met)
c.*2135A>G (n.*2135A>G)
c.2238A>G (p.Ile746Met)
c.*721A>G (n.*721A>G)
c.*2245A>G (n.*2245A>G)
c.1995A>G (p.Ile665Met)
c.12A>G (p.Ile4Met)
c.71A>G
c.1402-10238A>G (n.1402-10238A>G)
c.2331A>G (p.Ile777Met)
c.2511A>G (p.Ile837Met)
c.2178A>G (p.Ile726Met)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592588A>TCA457448953CFTRc.2421A>T (p.Ile807=)
c.*2135A>T (n.*2135A>T)
c.2238A>T (p.Ile746=)
c.*721A>T (n.*721A>T)
c.*2245A>T (n.*2245A>T)
c.1995A>T (p.Ile665=)
c.12A>T (p.Ile4=)
c.71A>T
c.1402-10238A>T (n.1402-10238A>T)
c.2331A>T (p.Ile777=)
c.2511A>T (p.Ile837=)
c.2178A>T (p.Ile726=)
7g.117592589T>ACA368981220CFTRc.2422T>A (p.Tyr808Asn)
c.*2136T>A (n.*2136T>A)
c.2239T>A (p.Tyr747Asn)
c.*722T>A (n.*722T>A)
c.*2246T>A (n.*2246T>A)
c.1996T>A (p.Tyr666Asn)
c.13T>A (p.Tyr5Asn)
c.72T>A
c.1402-10237T>A (n.1402-10237T>A)
c.2332T>A (p.Tyr778Asn)
c.2512T>A (p.Tyr838Asn)
c.2179T>A (p.Tyr727Asn)
7g.117592589T>CCA368981217CFTRc.2422T>C (p.Tyr808His)
c.*2136T>C (n.*2136T>C)
c.2239T>C (p.Tyr747His)
c.*722T>C (n.*722T>C)
c.*2246T>C (n.*2246T>C)
c.1996T>C (p.Tyr666His)
c.13T>C (p.Tyr5His)
c.72T>C
c.1402-10237T>C (n.1402-10237T>C)
c.2332T>C (p.Tyr778His)
c.2512T>C (p.Tyr838His)
c.2179T>C (p.Tyr727His)
7g.117592589T>GCA368981219CFTRc.2422T>G (p.Tyr808Asp)
c.*2136T>G (n.*2136T>G)
c.2239T>G (p.Tyr747Asp)
c.*722T>G (n.*722T>G)
c.*2246T>G (n.*2246T>G)
c.1996T>G (p.Tyr666Asp)
c.13T>G (p.Tyr5Asp)
c.72T>G
c.1402-10237T>G (n.1402-10237T>G)
c.2332T>G (p.Tyr778Asp)
c.2512T>G (p.Tyr838Asp)
c.2179T>G (p.Tyr727Asp)
7g.117592590A=CA1737395592CFTRc.2423A= (p.Tyr808=)
c.*2137A= (n.*2137A=)
c.2240A= (p.Tyr747=)
c.*723A= (n.*723A=)
c.*2247A= (n.*2247A=)
c.1997A= (p.Tyr666=)
c.14A= (p.Tyr5=)
c.73A=
c.1402-10236A= (n.1402-10236A=)
c.2333A= (p.Tyr778=)
c.2513A= (p.Tyr838=)
c.2180A= (p.Tyr727=)
7g.117592590A>CCA368981223CFTRc.2423A>C (p.Tyr808Ser)
c.*2137A>C (n.*2137A>C)
c.2240A>C (p.Tyr747Ser)
c.*723A>C (n.*723A>C)
c.*2247A>C (n.*2247A>C)
c.1997A>C (p.Tyr666Ser)
c.14A>C (p.Tyr5Ser)
c.73A>C
c.1402-10236A>C (n.1402-10236A>C)
c.2333A>C (p.Tyr778Ser)
c.2513A>C (p.Tyr838Ser)
c.2180A>C (p.Tyr727Ser)
7g.117592590A>GCA368981225CFTRc.2423A>G (p.Tyr808Cys)
c.*2137A>G (n.*2137A>G)
c.2240A>G (p.Tyr747Cys)
c.*723A>G (n.*723A>G)
c.*2247A>G (n.*2247A>G)
c.1997A>G (p.Tyr666Cys)
c.14A>G (p.Tyr5Cys)
c.73A>G
c.1402-10236A>G (n.1402-10236A>G)
c.2333A>G (p.Tyr778Cys)
c.2513A>G (p.Tyr838Cys)
c.2180A>G (p.Tyr727Cys)
7g.117592590A>TCA368981227CFTRc.2423A>T (p.Tyr808Phe)
c.*2137A>T (n.*2137A>T)
c.2240A>T (p.Tyr747Phe)
c.*723A>T (n.*723A>T)
c.*2247A>T (n.*2247A>T)
c.1997A>T (p.Tyr666Phe)
c.14A>T (p.Tyr5Phe)
c.73A>T
c.1402-10236A>T (n.1402-10236A>T)
c.2333A>T (p.Tyr778Phe)
c.2513A>T (p.Tyr838Phe)
c.2180A>T (p.Tyr727Phe)
 ClinVar dbSNP
7g.117592591T>ACA368981228CFTRc.2424T>A (p.Tyr808Ter)
c.*2138T>A (n.*2138T>A)
c.2241T>A (p.Tyr747Ter)
c.*724T>A (n.*724T>A)
c.*2248T>A (n.*2248T>A)
c.1998T>A (p.Tyr666Ter)
c.15T>A (p.Tyr5Ter)
c.74T>A
c.1402-10235T>A (n.1402-10235T>A)
c.2334T>A (p.Tyr778Ter)
c.2514T>A (p.Tyr838Ter)
c.2181T>A (p.Tyr727Ter)
7g.117592591T>CCA4451181CFTRc.2424T>C (p.Tyr808=)
c.*2138T>C (n.*2138T>C)
c.2241T>C (p.Tyr747=)
c.*724T>C (n.*724T>C)
c.*2248T>C (n.*2248T>C)
c.1998T>C (p.Tyr666=)
c.15T>C (p.Tyr5=)
c.74T>C
c.1402-10235T>C (n.1402-10235T>C)
c.2334T>C (p.Tyr778=)
c.2514T>C (p.Tyr838=)
c.2181T>C (p.Tyr727=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592591T>GCA368981230CFTRc.2424T>G (p.Tyr808Ter)
c.*2138T>G (n.*2138T>G)
c.2241T>G (p.Tyr747Ter)
c.*724T>G (n.*724T>G)
c.*2248T>G (n.*2248T>G)
c.1998T>G (p.Tyr666Ter)
c.15T>G (p.Tyr5Ter)
c.74T>G
c.1402-10235T>G (n.1402-10235T>G)
c.2334T>G (p.Tyr778Ter)
c.2514T>G (p.Tyr838Ter)
c.2181T>G (p.Tyr727Ter)
7g.117592591T=CA1737395597CFTRc.2424T= (p.Tyr808=)
c.*2138T= (n.*2138T=)
c.2241T= (p.Tyr747=)
c.*724T= (n.*724T=)
c.*2248T= (n.*2248T=)
c.1998T= (p.Tyr666=)
c.15T= (p.Tyr5=)
c.74T=
c.1402-10235T= (n.1402-10235T=)
c.2334T= (p.Tyr778=)
c.2514T= (p.Tyr838=)
c.2181T= (p.Tyr727=)
7g.117592592T>ACA368981233CFTRc.2425T>A (p.Ser809Thr)
c.*2139T>A (n.*2139T>A)
c.2242T>A (p.Ser748Thr)
c.*725T>A (n.*725T>A)
c.*2249T>A (n.*2249T>A)
c.1999T>A (p.Ser667Thr)
c.16T>A (p.Ser6Thr)
c.75T>A
c.1402-10234T>A (n.1402-10234T>A)
c.2335T>A (p.Ser779Thr)
c.2515T>A (p.Ser839Thr)
c.2182T>A (p.Ser728Thr)
7g.117592592T>CCA368981235CFTRc.2425T>C (p.Ser809Pro)
c.*2139T>C (n.*2139T>C)
c.2242T>C (p.Ser748Pro)
c.*725T>C (n.*725T>C)
c.*2249T>C (n.*2249T>C)
c.1999T>C (p.Ser667Pro)
c.16T>C (p.Ser6Pro)
c.75T>C
c.1402-10234T>C (n.1402-10234T>C)
c.2335T>C (p.Ser779Pro)
c.2515T>C (p.Ser839Pro)
c.2182T>C (p.Ser728Pro)
7g.117592592T>GCA368981236CFTRc.2425T>G (p.Ser809Ala)
c.*2139T>G (n.*2139T>G)
c.2242T>G (p.Ser748Ala)
c.*725T>G (n.*725T>G)
c.*2249T>G (n.*2249T>G)
c.1999T>G (p.Ser667Ala)
c.16T>G (p.Ser6Ala)
c.75T>G
c.1402-10234T>G (n.1402-10234T>G)
c.2335T>G (p.Ser779Ala)
c.2515T>G (p.Ser839Ala)
c.2182T>G (p.Ser728Ala)
7g.117592593C>ACA368981237CFTRc.2426C>A (p.Ser809Ter)
c.*2140C>A (n.*2140C>A)
c.2243C>A (p.Ser748Ter)
c.*726C>A (n.*726C>A)
c.*2250C>A (n.*2250C>A)
c.2000C>A (p.Ser667Ter)
c.17C>A (p.Ser6Ter)
c.76C>A
c.1402-10233C>A (n.1402-10233C>A)
c.2336C>A (p.Ser779Ter)
c.2516C>A (p.Ser839Ter)
c.2183C>A (p.Ser728Ter)
 ClinVar dbSNP gnomAD v4
7g.117592593C=CA1737395603CFTRc.2426C= (p.Ser809=)
c.*2140C= (n.*2140C=)
c.2243C= (p.Ser748=)
c.*726C= (n.*726C=)
c.*2250C= (n.*2250C=)
c.2000C= (p.Ser667=)
c.17C= (p.Ser6=)
c.76C=
c.1402-10233C= (n.1402-10233C=)
c.2336C= (p.Ser779=)
c.2516C= (p.Ser839=)
c.2183C= (p.Ser728=)
7g.117592593C>GCA368981241CFTRc.2426C>G (p.Ser809Ter)
c.*2140C>G (n.*2140C>G)
c.2243C>G (p.Ser748Ter)
c.*726C>G (n.*726C>G)
c.*2250C>G (n.*2250C>G)
c.2000C>G (p.Ser667Ter)
c.17C>G (p.Ser6Ter)
c.76C>G
c.1402-10233C>G (n.1402-10233C>G)
c.2336C>G (p.Ser779Ter)
c.2516C>G (p.Ser839Ter)
c.2183C>G (p.Ser728Ter)
 COSMIC
7g.117592593C>TCA368981239CFTRc.2426C>T (p.Ser809Leu)
c.*2140C>T (n.*2140C>T)
c.2243C>T (p.Ser748Leu)
c.*726C>T (n.*726C>T)
c.*2250C>T (n.*2250C>T)
c.2000C>T (p.Ser667Leu)
c.17C>T (p.Ser6Leu)
c.76C>T
c.1402-10233C>T (n.1402-10233C>T)
c.2336C>T (p.Ser779Leu)
c.2516C>T (p.Ser839Leu)
c.2183C>T (p.Ser728Leu)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592593_117592596delCA913111880CFTRc.2426_2429del (p.Ser809Ter)
c.*2140_*2143del (n.*2140_*2143del)
c.2243_2246del (p.Ser748Ter)
c.*726_*729del (n.*726_*729del)
c.*2250_*2253del (n.*2250_*2253del)
c.2000_2003del (p.Ser667Ter)
c.17_20del (p.Ser6Ter)
c.76_79del
c.1402-10233_1402-10230del (n.1402-10233_1402-10230del)
c.2336_2339del (p.Ser779Ter)
c.2516_2519del (p.Ser839Ter)
c.2183_2186del (p.Ser728Ter)
7g.117592593_117592596delinsCAAGCA1737395606CFTRc.2426_2429delinsCAAG (p.Ser809=)
c.*2140_*2143delinsCAAG (n.*2140_*2143delinsCAAG)
c.2243_2246delinsCAAG (p.Ser748=)
c.*726_*729delinsCAAG (n.*726_*729delinsCAAG)
c.*2250_*2253delinsCAAG (n.*2250_*2253delinsCAAG)
c.2000_2003delinsCAAG (p.Ser667=)
c.17_20delinsCAAG (p.Ser6=)
c.76_79delinsCAAG
c.1402-10233_1402-10230delinsCAAG (n.1402-10233_1402-10230delinsCAAG)
c.2336_2339delinsCAAG (p.Ser779=)
c.2516_2519delinsCAAG (p.Ser839=)
c.2183_2186delinsCAAG (p.Ser728=)
7g.117592594A>CCA457448957CFTRc.2427A>C (p.Ser809=)
c.*2141A>C (n.*2141A>C)
c.2244A>C (p.Ser748=)
c.*727A>C (n.*727A>C)
c.*2251A>C (n.*2251A>C)
c.2001A>C (p.Ser667=)
c.18A>C (p.Ser6=)
c.77A>C
c.1402-10232A>C (n.1402-10232A>C)
c.2337A>C (p.Ser779=)
c.2517A>C (p.Ser839=)
c.2184A>C (p.Ser728=)
7g.117592594A>GCA457448958CFTRc.2427A>G (p.Ser809=)
c.*2141A>G (n.*2141A>G)
c.2244A>G (p.Ser748=)
c.*727A>G (n.*727A>G)
c.*2251A>G (n.*2251A>G)
c.2001A>G (p.Ser667=)
c.18A>G (p.Ser6=)
c.77A>G
c.1402-10232A>G (n.1402-10232A>G)
c.2337A>G (p.Ser779=)
c.2517A>G (p.Ser839=)
c.2184A>G (p.Ser728=)
 gnomAD v4
7g.117592594A>TCA457448959CFTRc.2427A>T (p.Ser809=)
c.*2141A>T (n.*2141A>T)
c.2244A>T (p.Ser748=)
c.*727A>T (n.*727A>T)
c.*2251A>T (n.*2251A>T)
c.2001A>T (p.Ser667=)
c.18A>T (p.Ser6=)
c.77A>T
c.1402-10232A>T (n.1402-10232A>T)
c.2337A>T (p.Ser779=)
c.2517A>T (p.Ser839=)
c.2184A>T (p.Ser728=)
 ClinVar
7g.117592597_117592599delCA658822500CFTRc.2430_2432del (p.Arg811del)
c.*2144_*2146del (n.*2144_*2146del)
c.2247_2249del (p.Arg750del)
c.*730_*732del (n.*730_*732del)
c.*2254_*2256del (n.*2254_*2256del)
c.2004_2006del (p.Arg669del)
c.21_23del (p.Arg8del)
c.80_82del
c.1402-10229_1402-10227del (n.1402-10229_1402-10227del)
c.2340_2342del (p.Arg781del)
c.2520_2522del (p.Arg841del)
c.2187_2189del (p.Arg730del)
 ClinVar dbSNP
7g.117592595A=CA1737395614CFTRc.2428A= (p.Arg810=)
c.*2142A= (n.*2142A=)
c.2245A= (p.Arg749=)
c.*728A= (n.*728A=)
c.*2252A= (n.*2252A=)
c.2002A= (p.Arg668=)
c.19A= (p.Arg7=)
c.78A=
c.1402-10231A= (n.1402-10231A=)
c.2338A= (p.Arg780=)
c.2518A= (p.Arg840=)
c.2185A= (p.Arg729=)
7g.117592595A>CCA457448960CFTRc.2428A>C (p.Arg810=)
c.*2142A>C (n.*2142A>C)
c.2245A>C (p.Arg749=)
c.*728A>C (n.*728A>C)
c.*2252A>C (n.*2252A>C)
c.2002A>C (p.Arg668=)
c.19A>C (p.Arg7=)
c.78A>C
c.1402-10231A>C (n.1402-10231A>C)
c.2338A>C (p.Arg780=)
c.2518A>C (p.Arg840=)
c.2185A>C (p.Arg729=)
7g.117592595A>GCA326815CFTRc.2428A>G (p.Arg810Gly)
c.*2142A>G (n.*2142A>G)
c.2245A>G (p.Arg749Gly)
c.*728A>G (n.*728A>G)
c.*2252A>G (n.*2252A>G)
c.2002A>G (p.Arg668Gly)
c.19A>G (p.Arg7Gly)
c.78A>G
c.1402-10231A>G (n.1402-10231A>G)
c.2338A>G (p.Arg780Gly)
c.2518A>G (p.Arg840Gly)
c.2185A>G (p.Arg729Gly)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592595A>TCA368981244CFTRc.2428A>T (p.Arg810Ter)
c.*2142A>T (n.*2142A>T)
c.2245A>T (p.Arg749Ter)
c.*728A>T (n.*728A>T)
c.*2252A>T (n.*2252A>T)
c.2002A>T (p.Arg668Ter)
c.19A>T (p.Arg7Ter)
c.78A>T
c.1402-10231A>T (n.1402-10231A>T)
c.2338A>T (p.Arg780Ter)
c.2518A>T (p.Arg840Ter)
c.2185A>T (p.Arg729Ter)
 ClinVar dbSNP gnomAD v4
7g.117592595_117592596delinsAGCA1737395617CFTRc.2428_2429delinsAG (p.Arg810=)
c.*2142_*2143delinsAG (n.*2142_*2143delinsAG)
c.2245_2246delinsAG (p.Arg749=)
c.*728_*729delinsAG (n.*728_*729delinsAG)
c.*2252_*2253delinsAG (n.*2252_*2253delinsAG)
c.2002_2003delinsAG (p.Arg668=)
c.19_20delinsAG (p.Arg7=)
c.78_79delinsAG
c.1402-10231_1402-10230delinsAG (n.1402-10231_1402-10230delinsAG)
c.2338_2339delinsAG (p.Arg780=)
c.2518_2519delinsAG (p.Arg840=)
c.2185_2186delinsAG (p.Arg729=)
7g.117592595_117592596delinsGACA645541507CFTRc.2428_2429delinsGA (p.Arg810Glu)
c.*2142_*2143delinsGA (n.*2142_*2143delinsGA)
c.2245_2246delinsGA (p.Arg749Glu)
c.*728_*729delinsGA (n.*728_*729delinsGA)
c.*2252_*2253delinsGA (n.*2252_*2253delinsGA)
c.2002_2003delinsGA (p.Arg668Glu)
c.19_20delinsGA (p.Arg7Glu)
c.78_79delinsGA
c.1402-10231_1402-10230delinsGA (n.1402-10231_1402-10230delinsGA)
c.2338_2339delinsGA (p.Arg780Glu)
c.2518_2519delinsGA (p.Arg840Glu)
c.2185_2186delinsGA (p.Arg729Glu)
 COSMIC
7g.117592596delCA16041130CFTRc.2429del (p.Arg810LysfsTer11)
c.*2143del (n.*2143del)
c.2246del (p.Arg749LysfsTer11)
c.*729del (n.*729del)
c.*2253del (n.*2253del)
c.2003del (p.Arg668LysfsTer11)
c.20del (p.Arg7LysfsTer11)
c.79del
c.1402-10230del (n.1402-10230del)
c.2339del (p.Arg780LysfsTer11)
c.2519del (p.Arg840LysfsTer11)
c.2186del (p.Arg729LysfsTer11)
 ClinVar dbSNP
7g.117592596G>ACA368981245CFTRc.2429G>A (p.Arg810Lys)
c.*2143G>A (n.*2143G>A)
c.2246G>A (p.Arg749Lys)
c.*729G>A (n.*729G>A)
c.*2253G>A (n.*2253G>A)
c.2003G>A (p.Arg668Lys)
c.20G>A (p.Arg7Lys)
c.79G>A
c.1402-10230G>A (n.1402-10230G>A)
c.2339G>A (p.Arg780Lys)
c.2519G>A (p.Arg840Lys)
c.2186G>A (p.Arg729Lys)
 gnomAD v4
7g.117592596G>CCA368981247CFTRc.2429G>C (p.Arg810Thr)
c.*2143G>C (n.*2143G>C)
c.2246G>C (p.Arg749Thr)
c.*729G>C (n.*729G>C)
c.*2253G>C (n.*2253G>C)
c.2003G>C (p.Arg668Thr)
c.20G>C (p.Arg7Thr)
c.79G>C
c.1402-10230G>C (n.1402-10230G>C)
c.2339G>C (p.Arg780Thr)
c.2519G>C (p.Arg840Thr)
c.2186G>C (p.Arg729Thr)
7g.117592596G>TCA368981248CFTRc.2429G>T (p.Arg810Ile)
c.*2143G>T (n.*2143G>T)
c.2246G>T (p.Arg749Ile)
c.*729G>T (n.*729G>T)
c.*2253G>T (n.*2253G>T)
c.2003G>T (p.Arg668Ile)
c.20G>T (p.Arg7Ile)
c.79G>T
c.1402-10230G>T (n.1402-10230G>T)
c.2339G>T (p.Arg780Ile)
c.2519G>T (p.Arg840Ile)
c.2186G>T (p.Arg729Ile)
7g.117592597A>CCA368981250CFTRc.2430A>C (p.Arg810Ser)
c.*2144A>C (n.*2144A>C)
c.2247A>C (p.Arg749Ser)
c.*730A>C (n.*730A>C)
c.*2254A>C (n.*2254A>C)
c.2004A>C (p.Arg668Ser)
c.21A>C (p.Arg7Ser)
c.80A>C
c.1402-10229A>C (n.1402-10229A>C)
c.2340A>C (p.Arg780Ser)
c.2520A>C (p.Arg840Ser)
c.2187A>C (p.Arg729Ser)
7g.117592597A>GCA457448961CFTRc.2430A>G (p.Arg810=)
c.*2144A>G (n.*2144A>G)
c.2247A>G (p.Arg749=)
c.*730A>G (n.*730A>G)
c.*2254A>G (n.*2254A>G)
c.2004A>G (p.Arg668=)
c.21A>G (p.Arg7=)
c.80A>G
c.1402-10229A>G (n.1402-10229A>G)
c.2340A>G (p.Arg780=)
c.2520A>G (p.Arg840=)
c.2187A>G (p.Arg729=)
7g.117592597A>TCA368981251CFTRc.2430A>T (p.Arg810Ser)
c.*2144A>T (n.*2144A>T)
c.2247A>T (p.Arg749Ser)
c.*730A>T (n.*730A>T)
c.*2254A>T (n.*2254A>T)
c.2004A>T (p.Arg668Ser)
c.21A>T (p.Arg7Ser)
c.80A>T
c.1402-10229A>T (n.1402-10229A>T)
c.2340A>T (p.Arg780Ser)
c.2520A>T (p.Arg840Ser)
c.2187A>T (p.Arg729Ser)
 ClinVar gnomAD v4
7g.117592598A>CCA457448962CFTRc.2431A>C (p.Arg811=)
c.*2145A>C (n.*2145A>C)
c.2248A>C (p.Arg750=)
c.*731A>C (n.*731A>C)
c.*2255A>C (n.*2255A>C)
c.2005A>C (p.Arg669=)
c.22A>C (p.Arg8=)
c.81A>C
c.1402-10228A>C (n.1402-10228A>C)
c.2341A>C (p.Arg781=)
c.2521A>C (p.Arg841=)
c.2188A>C (p.Arg730=)
7g.117592598A>GCA368981253CFTRc.2431A>G (p.Arg811Gly)
c.*2145A>G (n.*2145A>G)
c.2248A>G (p.Arg750Gly)
c.*731A>G (n.*731A>G)
c.*2255A>G (n.*2255A>G)
c.2005A>G (p.Arg669Gly)
c.22A>G (p.Arg8Gly)
c.81A>G
c.1402-10228A>G (n.1402-10228A>G)
c.2341A>G (p.Arg781Gly)
c.2521A>G (p.Arg841Gly)
c.2188A>G (p.Arg730Gly)
 gnomAD v4
7g.117592598A>TCA368981255CFTRc.2431A>T (p.Arg811Trp)
c.*2145A>T (n.*2145A>T)
c.2248A>T (p.Arg750Trp)
c.*731A>T (n.*731A>T)
c.*2255A>T (n.*2255A>T)
c.2005A>T (p.Arg669Trp)
c.22A>T (p.Arg8Trp)
c.81A>T
c.1402-10228A>T (n.1402-10228A>T)
c.2341A>T (p.Arg781Trp)
c.2521A>T (p.Arg841Trp)
c.2188A>T (p.Arg730Trp)
7g.117592599G>ACA368981259CFTRc.2432G>A (p.Arg811Lys)
c.*2146G>A (n.*2146G>A)
c.2249G>A (p.Arg750Lys)
c.*732G>A (n.*732G>A)
c.*2256G>A (n.*2256G>A)
c.2006G>A (p.Arg669Lys)
c.23G>A (p.Arg8Lys)
c.82G>A
c.1402-10227G>A (n.1402-10227G>A)
c.2342G>A (p.Arg781Lys)
c.2522G>A (p.Arg841Lys)
c.2189G>A (p.Arg730Lys)
 dbSNP
7g.117592599G>CCA368981261CFTRc.2432G>C (p.Arg811Thr)
c.*2146G>C (n.*2146G>C)
c.2249G>C (p.Arg750Thr)
c.*732G>C (n.*732G>C)
c.*2256G>C (n.*2256G>C)
c.2006G>C (p.Arg669Thr)
c.23G>C (p.Arg8Thr)
c.82G>C
c.1402-10227G>C (n.1402-10227G>C)
c.2342G>C (p.Arg781Thr)
c.2522G>C (p.Arg841Thr)
c.2189G>C (p.Arg730Thr)
7g.117592599G=CA1737395622CFTRc.2432G= (p.Arg811=)
c.*2146G= (n.*2146G=)
c.2249G= (p.Arg750=)
c.*732G= (n.*732G=)
c.*2256G= (n.*2256G=)
c.2006G= (p.Arg669=)
c.23G= (p.Arg8=)
c.82G=
c.1402-10227G= (n.1402-10227G=)
c.2342G= (p.Arg781=)
c.2522G= (p.Arg841=)
c.2189G= (p.Arg730=)
7g.117592599G>TCA368981264CFTRc.2432G>T (p.Arg811Met)
c.*2146G>T (n.*2146G>T)
c.2249G>T (p.Arg750Met)
c.*732G>T (n.*732G>T)
c.*2256G>T (n.*2256G>T)
c.2006G>T (p.Arg669Met)
c.23G>T (p.Arg8Met)
c.82G>T
c.1402-10227G>T (n.1402-10227G>T)
c.2342G>T (p.Arg781Met)
c.2522G>T (p.Arg841Met)
c.2189G>T (p.Arg730Met)
7g.117592600G>ACA457448963CFTRc.2433G>A (p.Arg811=)
c.*2147G>A (n.*2147G>A)
c.2250G>A (p.Arg750=)
c.*733G>A (n.*733G>A)
c.*2257G>A (n.*2257G>A)
c.2007G>A (p.Arg669=)
c.24G>A (p.Arg8=)
c.83G>A
c.1402-10226G>A (n.1402-10226G>A)
c.2343G>A (p.Arg781=)
c.2523G>A (p.Arg841=)
c.2190G>A (p.Arg730=)
7g.117592600G>CCA368981269CFTRc.2433G>C (p.Arg811Ser)
c.*2147G>C (n.*2147G>C)
c.2250G>C (p.Arg750Ser)
c.*733G>C (n.*733G>C)
c.*2257G>C (n.*2257G>C)
c.2007G>C (p.Arg669Ser)
c.24G>C (p.Arg8Ser)
c.83G>C
c.1402-10226G>C (n.1402-10226G>C)
c.2343G>C (p.Arg781Ser)
c.2523G>C (p.Arg841Ser)
c.2190G>C (p.Arg730Ser)
7g.117592600G=CA1737395626CFTRc.2433G= (p.Arg811=)
c.*2147G= (n.*2147G=)
c.2250G= (p.Arg750=)
c.*733G= (n.*733G=)
c.*2257G= (n.*2257G=)
c.2007G= (p.Arg669=)
c.24G= (p.Arg8=)
c.83G=
c.1402-10226G= (n.1402-10226G=)
c.2343G= (p.Arg781=)
c.2523G= (p.Arg841=)
c.2190G= (p.Arg730=)
7g.117592600G>TCA4451182CFTRc.2433G>T (p.Arg811Ser)
c.*2147G>T (n.*2147G>T)
c.2250G>T (p.Arg750Ser)
c.*733G>T (n.*733G>T)
c.*2257G>T (n.*2257G>T)
c.2007G>T (p.Arg669Ser)
c.24G>T (p.Arg8Ser)
c.83G>T
c.1402-10226G>T (n.1402-10226G>T)
c.2343G>T (p.Arg781Ser)
c.2523G>T (p.Arg841Ser)
c.2190G>T (p.Arg730Ser)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592601T>ACA368981274CFTRc.2434T>A (p.Leu812Ile)
c.*2148T>A (n.*2148T>A)
c.2251T>A (p.Leu751Ile)
c.*734T>A (n.*734T>A)
c.*2258T>A (n.*2258T>A)
c.2008T>A (p.Leu670Ile)
c.25T>A (p.Leu9Ile)
c.84T>A
c.1402-10225T>A (n.1402-10225T>A)
c.2344T>A (p.Leu782Ile)
c.2524T>A (p.Leu842Ile)
c.2191T>A (p.Leu731Ile)
 ClinVar
7g.117592601T>CCA457448964CFTRc.2434T>C (p.Leu812=)
c.*2148T>C (n.*2148T>C)
c.2251T>C (p.Leu751=)
c.*734T>C (n.*734T>C)
c.*2258T>C (n.*2258T>C)
c.2008T>C (p.Leu670=)
c.25T>C (p.Leu9=)
c.84T>C
c.1402-10225T>C (n.1402-10225T>C)
c.2344T>C (p.Leu782=)
c.2524T>C (p.Leu842=)
c.2191T>C (p.Leu731=)
 ClinVar dbSNP gnomAD v4
7g.117592601T>GCA368981276CFTRc.2434T>G (p.Leu812Val)
c.*2148T>G (n.*2148T>G)
c.2251T>G (p.Leu751Val)
c.*734T>G (n.*734T>G)
c.*2258T>G (n.*2258T>G)
c.2008T>G (p.Leu670Val)
c.25T>G (p.Leu9Val)
c.84T>G
c.1402-10225T>G (n.1402-10225T>G)
c.2344T>G (p.Leu782Val)
c.2524T>G (p.Leu842Val)
c.2191T>G (p.Leu731Val)
7g.117592601T=CA1737395632CFTRc.2434T= (p.Leu812=)
c.*2148T= (n.*2148T=)
c.2251T= (p.Leu751=)
c.*734T= (n.*734T=)
c.*2258T= (n.*2258T=)
c.2008T= (p.Leu670=)
c.25T= (p.Leu9=)
c.84T=
c.1402-10225T= (n.1402-10225T=)
c.2344T= (p.Leu782=)
c.2524T= (p.Leu842=)
c.2191T= (p.Leu731=)
7g.117592602dupCA326817CFTRc.2435dup (p.Leu812PhefsTer11)
c.*2149dup (n.*2149dup)
c.2252dup (p.Leu751PhefsTer11)
c.*735dup (n.*735dup)
c.*2259dup (n.*2259dup)
c.2009dup (p.Leu670PhefsTer11)
c.26dup (p.Leu9PhefsTer11)
c.85dup
c.1402-10224dup (n.1402-10224dup)
c.2345dup (p.Leu782PhefsTer11)
c.2525dup (p.Leu842PhefsTer11)
c.2192dup (p.Leu731PhefsTer11)
 ClinVar dbSNP
7g.117592601_117592602dupCA2695208522CFTRc.2434_2435dup (p.Leu812PhefsTer10)
c.*2148_*2149dup (n.*2148_*2149dup)
c.2251_2252dup (p.Leu751PhefsTer10)
c.*734_*735dup (n.*734_*735dup)
c.*2258_*2259dup (n.*2258_*2259dup)
c.2008_2009dup (p.Leu670PhefsTer10)
c.25_26dup (p.Leu9PhefsTer10)
c.84_85dup
c.1402-10225_1402-10224dup (n.1402-10225_1402-10224dup)
c.2344_2345dup (p.Leu782PhefsTer10)
c.2524_2525dup (p.Leu842PhefsTer10)
c.2191_2192dup (p.Leu731PhefsTer10)
7g.117592602T>ACA368981280CFTRc.2435T>A (p.Leu812Ter)
c.*2149T>A (n.*2149T>A)
c.2252T>A (p.Leu751Ter)
c.*735T>A (n.*735T>A)
c.*2259T>A (n.*2259T>A)
c.2009T>A (p.Leu670Ter)
c.26T>A (p.Leu9Ter)
c.85T>A
c.1402-10224T>A (n.1402-10224T>A)
c.2345T>A (p.Leu782Ter)
c.2525T>A (p.Leu842Ter)
c.2192T>A (p.Leu731Ter)
7g.117592602T>CCA368981283CFTRc.2435T>C (p.Leu812Ser)
c.*2149T>C (n.*2149T>C)
c.2252T>C (p.Leu751Ser)
c.*735T>C (n.*735T>C)
c.*2259T>C (n.*2259T>C)
c.2009T>C (p.Leu670Ser)
c.26T>C (p.Leu9Ser)
c.85T>C
c.1402-10224T>C (n.1402-10224T>C)
c.2345T>C (p.Leu782Ser)
c.2525T>C (p.Leu842Ser)
c.2192T>C (p.Leu731Ser)
7g.117592602T>GCA368981285CFTRc.2435T>G (p.Leu812Ter)
c.*2149T>G (n.*2149T>G)
c.2252T>G (p.Leu751Ter)
c.*735T>G (n.*735T>G)
c.*2259T>G (n.*2259T>G)
c.2009T>G (p.Leu670Ter)
c.26T>G (p.Leu9Ter)
c.85T>G
c.1402-10224T>G (n.1402-10224T>G)
c.2345T>G (p.Leu782Ter)
c.2525T>G (p.Leu842Ter)
c.2192T>G (p.Leu731Ter)
7g.117592603A>CCA368981290CFTRc.2436A>C (p.Leu812Phe)
c.*2150A>C (n.*2150A>C)
c.2253A>C (p.Leu751Phe)
c.*736A>C (n.*736A>C)
c.*2260A>C (n.*2260A>C)
c.2010A>C (p.Leu670Phe)
c.27A>C (p.Leu9Phe)
c.86A>C
c.1402-10223A>C (n.1402-10223A>C)
c.2346A>C (p.Leu782Phe)
c.2526A>C (p.Leu842Phe)
c.2193A>C (p.Leu731Phe)
7g.117592603A>GCA457448965CFTRc.2436A>G (p.Leu812=)
c.*2150A>G (n.*2150A>G)
c.2253A>G (p.Leu751=)
c.*736A>G (n.*736A>G)
c.*2260A>G (n.*2260A>G)
c.2010A>G (p.Leu670=)
c.27A>G (p.Leu9=)
c.86A>G
c.1402-10223A>G (n.1402-10223A>G)
c.2346A>G (p.Leu782=)
c.2526A>G (p.Leu842=)
c.2193A>G (p.Leu731=)
 ClinVar gnomAD v4
7g.117592603A>TCA368981292CFTRc.2436A>T (p.Leu812Phe)
c.*2150A>T (n.*2150A>T)
c.2253A>T (p.Leu751Phe)
c.*736A>T (n.*736A>T)
c.*2260A>T (n.*2260A>T)
c.2010A>T (p.Leu670Phe)
c.27A>T (p.Leu9Phe)
c.86A>T
c.1402-10223A>T (n.1402-10223A>T)
c.2346A>T (p.Leu782Phe)
c.2526A>T (p.Leu842Phe)
c.2193A>T (p.Leu731Phe)
 gnomAD v4 COSMIC
7g.117592604T>ACA368981297CFTRc.2437T>A (p.Ser813Thr)
c.*2151T>A (n.*2151T>A)
c.2254T>A (p.Ser752Thr)
c.*737T>A (n.*737T>A)
c.*2261T>A (n.*2261T>A)
c.2011T>A (p.Ser671Thr)
c.28T>A (p.Ser10Thr)
c.87T>A
c.1402-10222T>A (n.1402-10222T>A)
c.2347T>A (p.Ser783Thr)
c.2527T>A (p.Ser843Thr)
c.2194T>A (p.Ser732Thr)
7g.117592604T>CCA368981298CFTRc.2437T>C (p.Ser813Pro)
c.*2151T>C (n.*2151T>C)
c.2254T>C (p.Ser752Pro)
c.*737T>C (n.*737T>C)
c.*2261T>C (n.*2261T>C)
c.2011T>C (p.Ser671Pro)
c.28T>C (p.Ser10Pro)
c.87T>C
c.1402-10222T>C (n.1402-10222T>C)
c.2347T>C (p.Ser783Pro)
c.2527T>C (p.Ser843Pro)
c.2194T>C (p.Ser732Pro)
 ClinVar dbSNP
7g.117592604T>GCA368981301CFTRc.2437T>G (p.Ser813Ala)
c.*2151T>G (n.*2151T>G)
c.2254T>G (p.Ser752Ala)
c.*737T>G (n.*737T>G)
c.*2261T>G (n.*2261T>G)
c.2011T>G (p.Ser671Ala)
c.28T>G (p.Ser10Ala)
c.87T>G
c.1402-10222T>G (n.1402-10222T>G)
c.2347T>G (p.Ser783Ala)
c.2527T>G (p.Ser843Ala)
c.2194T>G (p.Ser732Ala)
7g.117592604T=CA1737395635CFTRc.2437T= (p.Ser813=)
c.*2151T= (n.*2151T=)
c.2254T= (p.Ser752=)
c.*737T= (n.*737T=)
c.*2261T= (n.*2261T=)
c.2011T= (p.Ser671=)
c.28T= (p.Ser10=)
c.87T=
c.1402-10222T= (n.1402-10222T=)
c.2347T= (p.Ser783=)
c.2527T= (p.Ser843=)
c.2194T= (p.Ser732=)
7g.117592605delCA2697557578CFTRc.2438del (p.Ser813PhefsTer8)
c.*2152del (n.*2152del)
c.2255del (p.Ser752PhefsTer8)
c.*738del (n.*738del)
c.*2262del (n.*2262del)
c.2012del (p.Ser671PhefsTer8)
c.29del (p.Ser10PhefsTer8)
c.88del
c.1402-10221del (n.1402-10221del)
c.2348del (p.Ser783PhefsTer8)
c.2528del (p.Ser843PhefsTer8)
c.2195del (p.Ser732PhefsTer8)
 ClinVar
7g.117592605C>ACA368981304CFTRc.2438C>A (p.Ser813Tyr)
c.*2152C>A (n.*2152C>A)
c.2255C>A (p.Ser752Tyr)
c.*738C>A (n.*738C>A)
c.*2262C>A (n.*2262C>A)
c.2012C>A (p.Ser671Tyr)
c.29C>A (p.Ser10Tyr)
c.88C>A
c.1402-10221C>A (n.1402-10221C>A)
c.2348C>A (p.Ser783Tyr)
c.2528C>A (p.Ser843Tyr)
c.2195C>A (p.Ser732Tyr)
 gnomAD v4
7g.117592605C>GCA368981307CFTRc.2438C>G (p.Ser813Cys)
c.*2152C>G (n.*2152C>G)
c.2255C>G (p.Ser752Cys)
c.*738C>G (n.*738C>G)
c.*2262C>G (n.*2262C>G)
c.2012C>G (p.Ser671Cys)
c.29C>G (p.Ser10Cys)
c.88C>G
c.1402-10221C>G (n.1402-10221C>G)
c.2348C>G (p.Ser783Cys)
c.2528C>G (p.Ser843Cys)
c.2195C>G (p.Ser732Cys)
7g.117592605C>TCA368981309CFTRc.2438C>T (p.Ser813Phe)
c.*2152C>T (n.*2152C>T)
c.2255C>T (p.Ser752Phe)
c.*738C>T (n.*738C>T)
c.*2262C>T (n.*2262C>T)
c.2012C>T (p.Ser671Phe)
c.29C>T (p.Ser10Phe)
c.88C>T
c.1402-10221C>T (n.1402-10221C>T)
c.2348C>T (p.Ser783Phe)
c.2528C>T (p.Ser843Phe)
c.2195C>T (p.Ser732Phe)
 gnomAD v4
7g.117592606T>ACA457448966CFTRc.2439T>A (p.Ser813=)
c.*2153T>A (n.*2153T>A)
c.2256T>A (p.Ser752=)
c.*739T>A (n.*739T>A)
c.*2263T>A (n.*2263T>A)
c.2013T>A (p.Ser671=)
c.30T>A (p.Ser10=)
c.89T>A
c.1402-10220T>A (n.1402-10220T>A)
c.2349T>A (p.Ser783=)
c.2529T>A (p.Ser843=)
c.2196T>A (p.Ser732=)
7g.117592606T>CCA457448967CFTRc.2439T>C (p.Ser813=)
c.*2153T>C (n.*2153T>C)
c.2256T>C (p.Ser752=)
c.*739T>C (n.*739T>C)
c.*2263T>C (n.*2263T>C)
c.2013T>C (p.Ser671=)
c.30T>C (p.Ser10=)
c.89T>C
c.1402-10220T>C (n.1402-10220T>C)
c.2349T>C (p.Ser783=)
c.2529T>C (p.Ser843=)
c.2196T>C (p.Ser732=)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117592606T>GCA457448968CFTRc.2439T>G (p.Ser813=)
c.*2153T>G (n.*2153T>G)
c.2256T>G (p.Ser752=)
c.*739T>G (n.*739T>G)
c.*2263T>G (n.*2263T>G)
c.2013T>G (p.Ser671=)
c.30T>G (p.Ser10=)
c.89T>G
c.1402-10220T>G (n.1402-10220T>G)
c.2349T>G (p.Ser783=)
c.2529T>G (p.Ser843=)
c.2196T>G (p.Ser732=)
7g.117592607C>ACA368981313CFTRc.2440C>A (p.Gln814Lys)
c.*2154C>A (n.*2154C>A)
c.2257C>A (p.Gln753Lys)
c.*740C>A (n.*740C>A)
c.*2264C>A (n.*2264C>A)
c.2014C>A (p.Gln672Lys)
c.31C>A (p.Gln11Lys)
c.90C>A
c.1402-10219C>A (n.1402-10219C>A)
c.2350C>A (p.Gln784Lys)
c.2530C>A (p.Gln844Lys)
c.2197C>A (p.Gln733Lys)
 gnomAD v4
7g.117592607C=CA1737395639CFTRc.2440C= (p.Gln814=)
c.*2154C= (n.*2154C=)
c.2257C= (p.Gln753=)
c.*740C= (n.*740C=)
c.*2264C= (n.*2264C=)
c.2014C= (p.Gln672=)
c.31C= (p.Gln11=)
c.90C=
c.1402-10219C= (n.1402-10219C=)
c.2350C= (p.Gln784=)
c.2530C= (p.Gln844=)
c.2197C= (p.Gln733=)
7g.117592607C>GCA368981317CFTRc.2440C>G (p.Gln814Glu)
c.*2154C>G (n.*2154C>G)
c.2257C>G (p.Gln753Glu)
c.*740C>G (n.*740C>G)
c.*2264C>G (n.*2264C>G)
c.2014C>G (p.Gln672Glu)
c.31C>G (p.Gln11Glu)
c.90C>G
c.1402-10219C>G (n.1402-10219C>G)
c.2350C>G (p.Gln784Glu)
c.2530C>G (p.Gln844Glu)
c.2197C>G (p.Gln733Glu)
7g.117592607C>TCA326818CFTRc.2440C>T (p.Gln814Ter)
c.*2154C>T (n.*2154C>T)
c.2257C>T (p.Gln753Ter)
c.*740C>T (n.*740C>T)
c.*2264C>T (n.*2264C>T)
c.2014C>T (p.Gln672Ter)
c.31C>T (p.Gln11Ter)
c.90C>T
c.1402-10219C>T (n.1402-10219C>T)
c.2350C>T (p.Gln784Ter)
c.2530C>T (p.Gln844Ter)
c.2197C>T (p.Gln733Ter)
 ClinVar dbSNP
7g.117592608A=CA1737395642CFTRc.2441A= (p.Gln814=)
c.*2155A= (n.*2155A=)
c.2258A= (p.Gln753=)
c.*741A= (n.*741A=)
c.*2265A= (n.*2265A=)
c.2015A= (p.Gln672=)
c.32A= (p.Gln11=)
c.91A=
c.1402-10218A= (n.1402-10218A=)
c.2351A= (p.Gln784=)
c.2531A= (p.Gln844=)
c.2198A= (p.Gln733=)
7g.117592608A>CCA368981321CFTRc.2441A>C (p.Gln814Pro)
c.*2155A>C (n.*2155A>C)
c.2258A>C (p.Gln753Pro)
c.*741A>C (n.*741A>C)
c.*2265A>C (n.*2265A>C)
c.2015A>C (p.Gln672Pro)
c.32A>C (p.Gln11Pro)
c.91A>C
c.1402-10218A>C (n.1402-10218A>C)
c.2351A>C (p.Gln784Pro)
c.2531A>C (p.Gln844Pro)
c.2198A>C (p.Gln733Pro)
 dbSNP gnomAD v3 gnomAD v4
7g.117592608A>GCA368981327CFTRc.2441A>G (p.Gln814Arg)
c.*2155A>G (n.*2155A>G)
c.2258A>G (p.Gln753Arg)
c.*741A>G (n.*741A>G)
c.*2265A>G (n.*2265A>G)
c.2015A>G (p.Gln672Arg)
c.32A>G (p.Gln11Arg)
c.91A>G
c.1402-10218A>G (n.1402-10218A>G)
c.2351A>G (p.Gln784Arg)
c.2531A>G (p.Gln844Arg)
c.2198A>G (p.Gln733Arg)
 gnomAD v4
7g.117592608A>TCA368981325CFTRc.2441A>T (p.Gln814Leu)
c.*2155A>T (n.*2155A>T)
c.2258A>T (p.Gln753Leu)
c.*741A>T (n.*741A>T)
c.*2265A>T (n.*2265A>T)
c.2015A>T (p.Gln672Leu)
c.32A>T (p.Gln11Leu)
c.91A>T
c.1402-10218A>T (n.1402-10218A>T)
c.2351A>T (p.Gln784Leu)
c.2531A>T (p.Gln844Leu)
c.2198A>T (p.Gln733Leu)
7g.117592609delCA2684619363CFTRc.2442del (p.Glu815LysfsTer6)
c.*2156del (n.*2156del)
c.2259del (p.Glu754LysfsTer6)
c.*742del (n.*742del)
c.*2266del (n.*2266del)
c.2016del (p.Glu673LysfsTer6)
c.33del (p.Glu12LysfsTer6)
c.92del
c.1402-10217del (n.1402-10217del)
c.2352del (p.Glu785LysfsTer6)
c.2532del (p.Glu845LysfsTer6)
c.2199del (p.Glu734LysfsTer6)
 gnomAD v4
7g.117592609A=CA1737395645CFTRc.2442A= (p.Gln814=)
c.*2156A= (n.*2156A=)
c.2259A= (p.Gln753=)
c.*742A= (n.*742A=)
c.*2266A= (n.*2266A=)
c.2016A= (p.Gln672=)
c.33A= (p.Gln11=)
c.92A=
c.1402-10217A= (n.1402-10217A=)
c.2352A= (p.Gln784=)
c.2532A= (p.Gln844=)
c.2199A= (p.Gln733=)
7g.117592609A>CCA368981331CFTRc.2442A>C (p.Gln814His)
c.*2156A>C (n.*2156A>C)
c.2259A>C (p.Gln753His)
c.*742A>C (n.*742A>C)
c.*2266A>C (n.*2266A>C)
c.2016A>C (p.Gln672His)
c.33A>C (p.Gln11His)
c.92A>C
c.1402-10217A>C (n.1402-10217A>C)
c.2352A>C (p.Gln784His)
c.2532A>C (p.Gln844His)
c.2199A>C (p.Gln733His)
7g.117592609A>GCA457448969CFTRc.2442A>G (p.Gln814=)
c.*2156A>G (n.*2156A>G)
c.2259A>G (p.Gln753=)
c.*742A>G (n.*742A>G)
c.*2266A>G (n.*2266A>G)
c.2016A>G (p.Gln672=)
c.33A>G (p.Gln11=)
c.92A>G
c.1402-10217A>G (n.1402-10217A>G)
c.2352A>G (p.Gln784=)
c.2532A>G (p.Gln844=)
c.2199A>G (p.Gln733=)
 ClinVar dbSNP gnomAD v3 gnomAD v4
7g.117592609A>TCA368981332CFTRc.2442A>T (p.Gln814His)
c.*2156A>T (n.*2156A>T)
c.2259A>T (p.Gln753His)
c.*742A>T (n.*742A>T)
c.*2266A>T (n.*2266A>T)
c.2016A>T (p.Gln672His)
c.33A>T (p.Gln11His)
c.92A>T
c.1402-10217A>T (n.1402-10217A>T)
c.2352A>T (p.Gln784His)
c.2532A>T (p.Gln844His)
c.2199A>T (p.Gln733His)
7g.117592609_117592610delinsAGCA1737395646CFTRc.2442_2443delinsAG (p.Gln814=)
c.*2156_*2157delinsAG (n.*2156_*2157delinsAG)
c.2259_2260delinsAG (p.Gln753=)
c.*742_*743delinsAG (n.*742_*743delinsAG)
c.*2266_*2267delinsAG (n.*2266_*2267delinsAG)
c.2016_2017delinsAG (p.Gln672=)
c.33_34delinsAG (p.Gln11=)
c.92_93delinsAG
c.1402-10217_1402-10216delinsAG (n.1402-10217_1402-10216delinsAG)
c.2352_2353delinsAG (p.Gln784=)
c.2532_2533delinsAG (p.Gln844=)
c.2199_2200delinsAG (p.Gln733=)
7g.117592610delCA915945428CFTRc.2443del (p.Glu815LysfsTer6)
c.*2157del (n.*2157del)
c.2260del (p.Glu754LysfsTer6)
c.*743del (n.*743del)
c.*2267del (n.*2267del)
c.2017del (p.Glu673LysfsTer6)
c.34del (p.Glu12LysfsTer6)
c.93del
c.1402-10216del (n.1402-10216del)
c.2353del (p.Glu785LysfsTer6)
c.2533del (p.Glu845LysfsTer6)
c.2200del (p.Glu734LysfsTer6)
 ClinVar dbSNP
7g.117592610G>ACA368981337CFTRc.2443G>A (p.Glu815Lys)
c.*2157G>A (n.*2157G>A)
c.2260G>A (p.Glu754Lys)
c.*743G>A (n.*743G>A)
c.*2267G>A (n.*2267G>A)
c.2017G>A (p.Glu673Lys)
c.34G>A (p.Glu12Lys)
c.93G>A
c.1402-10216G>A (n.1402-10216G>A)
c.2353G>A (p.Glu785Lys)
c.2533G>A (p.Glu845Lys)
c.2200G>A (p.Glu734Lys)
7g.117592610G>CCA368981339CFTRc.2443G>C (p.Glu815Gln)
c.*2157G>C (n.*2157G>C)
c.2260G>C (p.Glu754Gln)
c.*743G>C (n.*743G>C)
c.*2267G>C (n.*2267G>C)
c.2017G>C (p.Glu673Gln)
c.34G>C (p.Glu12Gln)
c.93G>C
c.1402-10216G>C (n.1402-10216G>C)
c.2353G>C (p.Glu785Gln)
c.2533G>C (p.Glu845Gln)
c.2200G>C (p.Glu734Gln)
7g.117592610G=CA1737395653CFTRc.2443G= (p.Glu815=)
c.*2157G= (n.*2157G=)
c.2260G= (p.Glu754=)
c.*743G= (n.*743G=)
c.*2267G= (n.*2267G=)
c.2017G= (p.Glu673=)
c.34G= (p.Glu12=)
c.93G=
c.1402-10216G= (n.1402-10216G=)
c.2353G= (p.Glu785=)
c.2533G= (p.Glu845=)
c.2200G= (p.Glu734=)
7g.117592610G>TCA273034CFTRc.2443G>T (p.Glu815Ter)
c.*2157G>T (n.*2157G>T)
c.2260G>T (p.Glu754Ter)
c.*743G>T (n.*743G>T)
c.*2267G>T (n.*2267G>T)
c.2017G>T (p.Glu673Ter)
c.34G>T (p.Glu12Ter)
c.93G>T
c.1402-10216G>T (n.1402-10216G>T)
c.2353G>T (p.Glu785Ter)
c.2533G>T (p.Glu845Ter)
c.2200G>T (p.Glu734Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117592611A>CCA368981343CFTRc.2444A>C (p.Glu815Ala)
c.*2158A>C (n.*2158A>C)
c.2261A>C (p.Glu754Ala)
c.*744A>C (n.*744A>C)
c.*2268A>C (n.*2268A>C)
c.2018A>C (p.Glu673Ala)
c.35A>C (p.Glu12Ala)
c.94A>C
c.1402-10215A>C (n.1402-10215A>C)
c.2354A>C (p.Glu785Ala)
c.2534A>C (p.Glu845Ala)
c.2201A>C (p.Glu734Ala)
7g.117592611A>GCA368981345CFTRc.2444A>G (p.Glu815Gly)
c.*2158A>G (n.*2158A>G)
c.2261A>G (p.Glu754Gly)
c.*744A>G (n.*744A>G)
c.*2268A>G (n.*2268A>G)
c.2018A>G (p.Glu673Gly)
c.35A>G (p.Glu12Gly)
c.94A>G
c.1402-10215A>G (n.1402-10215A>G)
c.2354A>G (p.Glu785Gly)
c.2534A>G (p.Glu845Gly)
c.2201A>G (p.Glu734Gly)
7g.117592611A>TCA368981348CFTRc.2444A>T (p.Glu815Val)
c.*2158A>T (n.*2158A>T)
c.2261A>T (p.Glu754Val)
c.*744A>T (n.*744A>T)
c.*2268A>T (n.*2268A>T)
c.2018A>T (p.Glu673Val)
c.35A>T (p.Glu12Val)
c.94A>T
c.1402-10215A>T (n.1402-10215A>T)
c.2354A>T (p.Glu785Val)
c.2534A>T (p.Glu845Val)
c.2201A>T (p.Glu734Val)
 gnomAD v4
7g.117592613delCA2695208523CFTRc.2446del (p.Thr816LeufsTer5)
c.*2160del (n.*2160del)
c.2263del (p.Thr755LeufsTer5)
c.*746del (n.*746del)
c.*2270del (n.*2270del)
c.2020del (p.Thr674LeufsTer5)
c.37del (p.Thr13LeufsTer5)
c.96del
c.1402-10213del (n.1402-10213del)
c.2356del (p.Thr786LeufsTer5)
c.2536del (p.Thr846LeufsTer5)
c.2203del (p.Thr735LeufsTer5)
7g.117592612A>CCA368981352CFTRc.2445A>C (p.Glu815Asp)
c.*2159A>C (n.*2159A>C)
c.2262A>C (p.Glu754Asp)
c.*745A>C (n.*745A>C)
c.*2269A>C (n.*2269A>C)
c.2019A>C (p.Glu673Asp)
c.36A>C (p.Glu12Asp)
c.95A>C
c.1402-10214A>C (n.1402-10214A>C)
c.2355A>C (p.Glu785Asp)
c.2535A>C (p.Glu845Asp)
c.2202A>C (p.Glu734Asp)
7g.117592612A>GCA457448970CFTRc.2445A>G (p.Glu815=)
c.*2159A>G (n.*2159A>G)
c.2262A>G (p.Glu754=)
c.*745A>G (n.*745A>G)
c.*2269A>G (n.*2269A>G)
c.2019A>G (p.Glu673=)
c.36A>G (p.Glu12=)
c.95A>G
c.1402-10214A>G (n.1402-10214A>G)
c.2355A>G (p.Glu785=)
c.2535A>G (p.Glu845=)
c.2202A>G (p.Glu734=)
7g.117592612A>TCA368981355CFTRc.2445A>T (p.Glu815Asp)
c.*2159A>T (n.*2159A>T)
c.2262A>T (p.Glu754Asp)
c.*745A>T (n.*745A>T)
c.*2269A>T (n.*2269A>T)
c.2019A>T (p.Glu673Asp)
c.36A>T (p.Glu12Asp)
c.95A>T
c.1402-10214A>T (n.1402-10214A>T)
c.2355A>T (p.Glu785Asp)
c.2535A>T (p.Glu845Asp)
c.2202A>T (p.Glu734Asp)
7g.117592613A>CCA368981359CFTRc.2446A>C (p.Thr816Pro)
c.*2160A>C (n.*2160A>C)
c.2263A>C (p.Thr755Pro)
c.*746A>C (n.*746A>C)
c.*2270A>C (n.*2270A>C)
c.2020A>C (p.Thr674Pro)
c.37A>C (p.Thr13Pro)
c.96A>C
c.1402-10213A>C (n.1402-10213A>C)
c.2356A>C (p.Thr786Pro)
c.2536A>C (p.Thr846Pro)
c.2203A>C (p.Thr735Pro)
 ClinVar
7g.117592613A>GCA368981360CFTRc.2446A>G (p.Thr816Ala)
c.*2160A>G (n.*2160A>G)
c.2263A>G (p.Thr755Ala)
c.*746A>G (n.*746A>G)
c.*2270A>G (n.*2270A>G)
c.2020A>G (p.Thr674Ala)
c.37A>G (p.Thr13Ala)
c.96A>G
c.1402-10213A>G (n.1402-10213A>G)
c.2356A>G (p.Thr786Ala)
c.2536A>G (p.Thr846Ala)
c.2203A>G (p.Thr735Ala)
7g.117592613A>TCA368981363CFTRc.2446A>T (p.Thr816Ser)
c.*2160A>T (n.*2160A>T)
c.2263A>T (p.Thr755Ser)
c.*746A>T (n.*746A>T)
c.*2270A>T (n.*2270A>T)
c.2020A>T (p.Thr674Ser)
c.37A>T (p.Thr13Ser)
c.96A>T
c.1402-10213A>T (n.1402-10213A>T)
c.2356A>T (p.Thr786Ser)
c.2536A>T (p.Thr846Ser)
c.2203A>T (p.Thr735Ser)
7g.117592614C>ACA368981372CFTRc.2447C>A (p.Thr816Asn)
c.*2161C>A (n.*2161C>A)
c.2264C>A (p.Thr755Asn)
c.*747C>A (n.*747C>A)
c.*2271C>A (n.*2271C>A)
c.2021C>A (p.Thr674Asn)
c.38C>A (p.Thr13Asn)
c.97C>A
c.1402-10212C>A (n.1402-10212C>A)
c.2357C>A (p.Thr786Asn)
c.2537C>A (p.Thr846Asn)
c.2204C>A (p.Thr735Asn)
 gnomAD v4
7g.117592614C>GCA368981367CFTRc.2447C>G (p.Thr816Ser)
c.*2161C>G (n.*2161C>G)
c.2264C>G (p.Thr755Ser)
c.*747C>G (n.*747C>G)
c.*2271C>G (n.*2271C>G)
c.2021C>G (p.Thr674Ser)
c.38C>G (p.Thr13Ser)
c.97C>G
c.1402-10212C>G (n.1402-10212C>G)
c.2357C>G (p.Thr786Ser)
c.2537C>G (p.Thr846Ser)
c.2204C>G (p.Thr735Ser)
7g.117592614C>TCA368981368CFTRc.2447C>T (p.Thr816Ile)
c.*2161C>T (n.*2161C>T)
c.2264C>T (p.Thr755Ile)
c.*747C>T (n.*747C>T)
c.*2271C>T (n.*2271C>T)
c.2021C>T (p.Thr674Ile)
c.38C>T (p.Thr13Ile)
c.97C>T
c.1402-10212C>T (n.1402-10212C>T)
c.2357C>T (p.Thr786Ile)
c.2537C>T (p.Thr846Ile)
c.2204C>T (p.Thr735Ile)
7g.117592615T>ACA457448973CFTRc.2448T>A (p.Thr816=)
c.*2162T>A (n.*2162T>A)
c.2265T>A (p.Thr755=)
c.*748T>A (n.*748T>A)
c.*2272T>A (n.*2272T>A)
c.2022T>A (p.Thr674=)
c.39T>A (p.Thr13=)
c.98T>A
c.1402-10211T>A (n.1402-10211T>A)
c.2358T>A (p.Thr786=)
c.2538T>A (p.Thr846=)
c.2205T>A (p.Thr735=)
7g.117592615T>CCA457448972CFTRc.2448T>C (p.Thr816=)
c.*2162T>C (n.*2162T>C)
c.2265T>C (p.Thr755=)
c.*748T>C (n.*748T>C)
c.*2272T>C (n.*2272T>C)
c.2022T>C (p.Thr674=)
c.39T>C (p.Thr13=)
c.98T>C
c.1402-10211T>C (n.1402-10211T>C)
c.2358T>C (p.Thr786=)
c.2538T>C (p.Thr846=)
c.2205T>C (p.Thr735=)
7g.117592615T>GCA457448971CFTRc.2448T>G (p.Thr816=)
c.*2162T>G (n.*2162T>G)
c.2265T>G (p.Thr755=)
c.*748T>G (n.*748T>G)
c.*2272T>G (n.*2272T>G)
c.2022T>G (p.Thr674=)
c.39T>G (p.Thr13=)
c.98T>G
c.1402-10211T>G (n.1402-10211T>G)
c.2358T>G (p.Thr786=)
c.2538T>G (p.Thr846=)
c.2205T>G (p.Thr735=)
7g.117592615_117592616delinsTGCA1737395658CFTRc.2448_2449delinsTG (p.Thr816=)
c.*2162_*2163delinsTG (n.*2162_*2163delinsTG)
c.2265_2266delinsTG (p.Thr755=)
c.*748_*749delinsTG (n.*748_*749delinsTG)
c.*2272_*2273delinsTG (n.*2272_*2273delinsTG)
c.2022_2023delinsTG (p.Thr674=)
c.39_40delinsTG (p.Thr13=)
c.98_99delinsTG
c.1402-10211_1402-10210delinsTG (n.1402-10211_1402-10210delinsTG)
c.2358_2359delinsTG (p.Thr786=)
c.2538_2539delinsTG (p.Thr846=)
c.2205_2206delinsTG (p.Thr735=)
7g.117592616G>ACA368981376CFTRc.2449G>A (p.Gly817Ser)
c.*2163G>A (n.*2163G>A)
c.2266G>A (p.Gly756Ser)
c.*749G>A (n.*749G>A)
c.*2273G>A (n.*2273G>A)
c.2023G>A (p.Gly675Ser)
c.40G>A (p.Gly14Ser)
c.99G>A
c.1402-10210G>A (n.1402-10210G>A)
c.2359G>A (p.Gly787Ser)
c.2539G>A (p.Gly847Ser)
c.2206G>A (p.Gly736Ser)
7g.117592616G>CCA368981379CFTRc.2449G>C (p.Gly817Arg)
c.*2163G>C (n.*2163G>C)
c.2266G>C (p.Gly756Arg)
c.*749G>C (n.*749G>C)
c.*2273G>C (n.*2273G>C)
c.2023G>C (p.Gly675Arg)
c.40G>C (p.Gly14Arg)
c.99G>C
c.1402-10210G>C (n.1402-10210G>C)
c.2359G>C (p.Gly787Arg)
c.2539G>C (p.Gly847Arg)
c.2206G>C (p.Gly736Arg)
7g.117592616G>TCA368981383CFTRc.2449G>T (p.Gly817Cys)
c.*2163G>T (n.*2163G>T)
c.2266G>T (p.Gly756Cys)
c.*749G>T (n.*749G>T)
c.*2273G>T (n.*2273G>T)
c.2023G>T (p.Gly675Cys)
c.40G>T (p.Gly14Cys)
c.99G>T
c.1402-10210G>T (n.1402-10210G>T)
c.2359G>T (p.Gly787Cys)
c.2539G>T (p.Gly847Cys)
c.2206G>T (p.Gly736Cys)
 gnomAD v4
7g.117592617delCA915945429CFTRc.2450del (p.Gly817AlafsTer4)
c.*2164del (n.*2164del)
c.2267del (p.Gly756AlafsTer4)
c.*750del (n.*750del)
c.*2274del (n.*2274del)
c.2024del (p.Gly675AlafsTer4)
c.41del (p.Gly14AlafsTer4)
c.100del
c.1402-10209del (n.1402-10209del)
c.2360del (p.Gly787AlafsTer4)
c.2540del (p.Gly847AlafsTer4)
c.2207del (p.Gly736AlafsTer4)
 ClinVar dbSNP
7g.117592617G>ACA368981385CFTRc.2450G>A (p.Gly817Asp)
c.*2164G>A (n.*2164G>A)
c.2267G>A (p.Gly756Asp)
c.*750G>A (n.*750G>A)
c.*2274G>A (n.*2274G>A)
c.2024G>A (p.Gly675Asp)
c.41G>A (p.Gly14Asp)
c.100G>A
c.1402-10209G>A (n.1402-10209G>A)
c.2360G>A (p.Gly787Asp)
c.2540G>A (p.Gly847Asp)
c.2207G>A (p.Gly736Asp)
7g.117592617G>CCA368981388CFTRc.2450G>C (p.Gly817Ala)
c.*2164G>C (n.*2164G>C)
c.2267G>C (p.Gly756Ala)
c.*750G>C (n.*750G>C)
c.*2274G>C (n.*2274G>C)
c.2024G>C (p.Gly675Ala)
c.41G>C (p.Gly14Ala)
c.100G>C
c.1402-10209G>C (n.1402-10209G>C)
c.2360G>C (p.Gly787Ala)
c.2540G>C (p.Gly847Ala)
c.2207G>C (p.Gly736Ala)
7g.117592617G=CA1737395669CFTRc.2450G= (p.Gly817=)
c.*2164G= (n.*2164G=)
c.2267G= (p.Gly756=)
c.*750G= (n.*750G=)
c.*2274G= (n.*2274G=)
c.2024G= (p.Gly675=)
c.41G= (p.Gly14=)
c.100G=
c.1402-10209G= (n.1402-10209G=)
c.2360G= (p.Gly787=)
c.2540G= (p.Gly847=)
c.2207G= (p.Gly736=)
7g.117592617G>TCA4451183CFTRc.2450G>T (p.Gly817Val)
c.*2164G>T (n.*2164G>T)
c.2267G>T (p.Gly756Val)
c.*750G>T (n.*750G>T)
c.*2274G>T (n.*2274G>T)
c.2024G>T (p.Gly675Val)
c.41G>T (p.Gly14Val)
c.100G>T
c.1402-10209G>T (n.1402-10209G>T)
c.2360G>T (p.Gly787Val)
c.2540G>T (p.Gly847Val)
c.2207G>T (p.Gly736Val)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592618C>ACA457448974CFTRc.2451C>A (p.Gly817=)
c.*2165C>A (n.*2165C>A)
c.2268C>A (p.Gly756=)
c.*751C>A (n.*751C>A)
c.*2275C>A (n.*2275C>A)
c.2025C>A (p.Gly675=)
c.42C>A (p.Gly14=)
c.101C>A
c.1402-10208C>A (n.1402-10208C>A)
c.2361C>A (p.Gly787=)
c.2541C>A (p.Gly847=)
c.2208C>A (p.Gly736=)
 gnomAD v4
7g.117592618C>GCA457448975CFTRc.2451C>G (p.Gly817=)
c.*2165C>G (n.*2165C>G)
c.2268C>G (p.Gly756=)
c.*751C>G (n.*751C>G)
c.*2275C>G (n.*2275C>G)
c.2025C>G (p.Gly675=)
c.42C>G (p.Gly14=)
c.101C>G
c.1402-10208C>G (n.1402-10208C>G)
c.2361C>G (p.Gly787=)
c.2541C>G (p.Gly847=)
c.2208C>G (p.Gly736=)
 gnomAD v4
7g.117592618C>TCA457448976CFTRc.2451C>T (p.Gly817=)
c.*2165C>T (n.*2165C>T)
c.2268C>T (p.Gly756=)
c.*751C>T (n.*751C>T)
c.*2275C>T (n.*2275C>T)
c.2025C>T (p.Gly675=)
c.42C>T (p.Gly14=)
c.101C>T
c.1402-10208C>T (n.1402-10208C>T)
c.2361C>T (p.Gly787=)
c.2541C>T (p.Gly847=)
c.2208C>T (p.Gly736=)
7g.117592618_117592619delinsCTCA1737395673CFTRc.2451_2452delinsCT (p.Gly817=)
c.*2165_*2166delinsCT (n.*2165_*2166delinsCT)
c.2268_2269delinsCT (p.Gly756=)
c.*751_*752delinsCT (n.*751_*752delinsCT)
c.*2275_*2276delinsCT (n.*2275_*2276delinsCT)
c.2025_2026delinsCT (p.Gly675=)
c.42_43delinsCT (p.Gly14=)
c.101_102delinsCT
c.1402-10208_1402-10207delinsCT (n.1402-10208_1402-10207delinsCT)
c.2361_2362delinsCT (p.Gly787=)
c.2541_2542delinsCT (p.Gly847=)
c.2208_2209delinsCT (p.Gly736=)
7g.117592619T>ACA368981393CFTRc.2452T>A (p.Leu818Met)
c.*2166T>A (n.*2166T>A)
c.2269T>A (p.Leu757Met)
c.*752T>A (n.*752T>A)
c.*2276T>A (n.*2276T>A)
c.2026T>A (p.Leu676Met)
c.43T>A (p.Leu15Met)
c.102T>A
c.1402-10207T>A (n.1402-10207T>A)
c.2362T>A (p.Leu788Met)
c.2542T>A (p.Leu848Met)
c.2209T>A (p.Leu737Met)
7g.117592619T>CCA457448977CFTRc.2452T>C (p.Leu818=)
c.*2166T>C (n.*2166T>C)
c.2269T>C (p.Leu757=)
c.*752T>C (n.*752T>C)
c.*2276T>C (n.*2276T>C)
c.2026T>C (p.Leu676=)
c.43T>C (p.Leu15=)
c.102T>C
c.1402-10207T>C (n.1402-10207T>C)
c.2362T>C (p.Leu788=)
c.2542T>C (p.Leu848=)
c.2209T>C (p.Leu737=)
7g.117592619T>GCA368981396CFTRc.2452T>G (p.Leu818Val)
c.*2166T>G (n.*2166T>G)
c.2269T>G (p.Leu757Val)
c.*752T>G (n.*752T>G)
c.*2276T>G (n.*2276T>G)
c.2026T>G (p.Leu676Val)
c.43T>G (p.Leu15Val)
c.102T>G
c.1402-10207T>G (n.1402-10207T>G)
c.2362T>G (p.Leu788Val)
c.2542T>G (p.Leu848Val)
c.2209T>G (p.Leu737Val)
 ClinVar gnomAD v4
7g.117592620delCA264801CFTRc.2453del (p.Leu818TrpfsTer3)
c.*2167del (n.*2167del)
c.2270del (p.Leu757TrpfsTer3)
c.*753del (n.*753del)
c.*2277del (n.*2277del)
c.2027del (p.Leu676TrpfsTer3)
c.44del (p.Leu15TrpfsTer3)
c.103del
c.1402-10206del (n.1402-10206del)
c.2363del (p.Leu788TrpfsTer3)
c.2543del (p.Leu848TrpfsTer3)
c.2210del (p.Leu737TrpfsTer3)
 ClinVar dbSNP gnomAD v4
7g.117592620T>ACA368981403CFTRc.2453T>A (p.Leu818Ter)
c.*2167T>A (n.*2167T>A)
c.2270T>A (p.Leu757Ter)
c.*753T>A (n.*753T>A)
c.*2277T>A (n.*2277T>A)
c.2027T>A (p.Leu676Ter)
c.44T>A (p.Leu15Ter)
c.103T>A
c.1402-10206T>A (n.1402-10206T>A)
c.2363T>A (p.Leu788Ter)
c.2543T>A (p.Leu848Ter)
c.2210T>A (p.Leu737Ter)
7g.117592620T>CCA368981405CFTRc.2453T>C (p.Leu818Ser)
c.*2167T>C (n.*2167T>C)
c.2270T>C (p.Leu757Ser)
c.*753T>C (n.*753T>C)
c.*2277T>C (n.*2277T>C)
c.2027T>C (p.Leu676Ser)
c.44T>C (p.Leu15Ser)
c.103T>C
c.1402-10206T>C (n.1402-10206T>C)
c.2363T>C (p.Leu788Ser)
c.2543T>C (p.Leu848Ser)
c.2210T>C (p.Leu737Ser)
 gnomAD v4
7g.117592620T>GCA368981407CFTRc.2453T>G (p.Leu818Trp)
c.*2167T>G (n.*2167T>G)
c.2270T>G (p.Leu757Trp)
c.*753T>G (n.*753T>G)
c.*2277T>G (n.*2277T>G)
c.2027T>G (p.Leu676Trp)
c.44T>G (p.Leu15Trp)
c.103T>G
c.1402-10206T>G (n.1402-10206T>G)
c.2363T>G (p.Leu788Trp)
c.2543T>G (p.Leu848Trp)
c.2210T>G (p.Leu737Trp)
7g.117592621G>ACA457448978CFTRc.2454G>A (p.Leu818=)
c.*2168G>A (n.*2168G>A)
c.2271G>A (p.Leu757=)
c.*754G>A (n.*754G>A)
c.*2278G>A (n.*2278G>A)
c.2028G>A (p.Leu676=)
c.45G>A (p.Leu15=)
c.104G>A
c.1402-10205G>A (n.1402-10205G>A)
c.2364G>A (p.Leu788=)
c.2544G>A (p.Leu848=)
c.2211G>A (p.Leu737=)
 ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC
7g.117592621G>CCA368981412CFTRc.2454G>C (p.Leu818Phe)
c.*2168G>C (n.*2168G>C)
c.2271G>C (p.Leu757Phe)
c.*754G>C (n.*754G>C)
c.*2278G>C (n.*2278G>C)
c.2028G>C (p.Leu676Phe)
c.45G>C (p.Leu15Phe)
c.104G>C
c.1402-10205G>C (n.1402-10205G>C)
c.2364G>C (p.Leu788Phe)
c.2544G>C (p.Leu848Phe)
c.2211G>C (p.Leu737Phe)
7g.117592621G=CA1737395684CFTRc.2454G= (p.Leu818=)
c.*2168G= (n.*2168G=)
c.2271G= (p.Leu757=)
c.*754G= (n.*754G=)
c.*2278G= (n.*2278G=)
c.2028G= (p.Leu676=)
c.45G= (p.Leu15=)
c.104G=
c.1402-10205G= (n.1402-10205G=)
c.2364G= (p.Leu788=)
c.2544G= (p.Leu848=)
c.2211G= (p.Leu737=)
7g.117592621G>TCA368981414CFTRc.2454G>T (p.Leu818Phe)
c.*2168G>T (n.*2168G>T)
c.2271G>T (p.Leu757Phe)
c.*754G>T (n.*754G>T)
c.*2278G>T (n.*2278G>T)
c.2028G>T (p.Leu676Phe)
c.45G>T (p.Leu15Phe)
c.104G>T
c.1402-10205G>T (n.1402-10205G>T)
c.2364G>T (p.Leu788Phe)
c.2544G>T (p.Leu848Phe)
c.2211G>T (p.Leu737Phe)
 gnomAD v4
7g.117592622delCA457448979CFTRc.2455del (p.Glu819LysfsTer2)
c.*2169del (n.*2169del)
c.2272del (p.Glu758LysfsTer2)
c.*755del (n.*755del)
c.*2279del (n.*2279del)
c.2029del (p.Glu677LysfsTer2)
c.46del (p.Glu16LysfsTer2)
c.105del
c.1402-10204del (n.1402-10204del)
c.2365del (p.Glu789LysfsTer2)
c.2545del (p.Glu849LysfsTer2)
c.2212del (p.Glu738LysfsTer2)
 COSMIC
7g.117592622G>ACA368981419CFTRc.2455G>A (p.Glu819Lys)
c.*2169G>A (n.*2169G>A)
c.2272G>A (p.Glu758Lys)
c.*755G>A (n.*755G>A)
c.*2279G>A (n.*2279G>A)
c.2029G>A (p.Glu677Lys)
c.46G>A (p.Glu16Lys)
c.105G>A
c.1402-10204G>A (n.1402-10204G>A)
c.2365G>A (p.Glu789Lys)
c.2545G>A (p.Glu849Lys)
c.2212G>A (p.Glu738Lys)
 gnomAD v4 COSMIC
7g.117592622G>CCA368981421CFTRc.2455G>C (p.Glu819Gln)
c.*2169G>C (n.*2169G>C)
c.2272G>C (p.Glu758Gln)
c.*755G>C (n.*755G>C)
c.*2279G>C (n.*2279G>C)
c.2029G>C (p.Glu677Gln)
c.46G>C (p.Glu16Gln)
c.105G>C
c.1402-10204G>C (n.1402-10204G>C)
c.2365G>C (p.Glu789Gln)
c.2545G>C (p.Glu849Gln)
c.2212G>C (p.Glu738Gln)
7g.117592622G=CA1737395686CFTRc.2455G= (p.Glu819=)
c.*2169G= (n.*2169G=)
c.2272G= (p.Glu758=)
c.*755G= (n.*755G=)
c.*2279G= (n.*2279G=)
c.2029G= (p.Glu677=)
c.46G= (p.Glu16=)
c.105G=
c.1402-10204G= (n.1402-10204G=)
c.2365G= (p.Glu789=)
c.2545G= (p.Glu849=)
c.2212G= (p.Glu738=)
7g.117592622G>TCA368981425CFTRc.2455G>T (p.Glu819Ter)
c.*2169G>T (n.*2169G>T)
c.2272G>T (p.Glu758Ter)
c.*755G>T (n.*755G>T)
c.*2279G>T (n.*2279G>T)
c.2029G>T (p.Glu677Ter)
c.46G>T (p.Glu16Ter)
c.105G>T
c.1402-10204G>T (n.1402-10204G>T)
c.2365G>T (p.Glu789Ter)
c.2545G>T (p.Glu849Ter)
c.2212G>T (p.Glu738Ter)
 ClinVar dbSNP
7g.117592623A>CCA368981429CFTRc.2456A>C (p.Glu819Ala)
c.*2170A>C (n.*2170A>C)
c.2273A>C (p.Glu758Ala)
c.*756A>C (n.*756A>C)
c.*2280A>C (n.*2280A>C)
c.2030A>C (p.Glu677Ala)
c.47A>C (p.Glu16Ala)
c.106A>C
c.1402-10203A>C (n.1402-10203A>C)
c.2366A>C (p.Glu789Ala)
c.2546A>C (p.Glu849Ala)
c.2213A>C (p.Glu738Ala)
7g.117592623A>GCA368981430CFTRc.2456A>G (p.Glu819Gly)
c.*2170A>G (n.*2170A>G)
c.2273A>G (p.Glu758Gly)
c.*756A>G (n.*756A>G)
c.*2280A>G (n.*2280A>G)
c.2030A>G (p.Glu677Gly)
c.47A>G (p.Glu16Gly)
c.106A>G
c.1402-10203A>G (n.1402-10203A>G)
c.2366A>G (p.Glu789Gly)
c.2546A>G (p.Glu849Gly)
c.2213A>G (p.Glu738Gly)
 gnomAD v4
7g.117592623A>TCA368981431CFTRc.2456A>T (p.Glu819Val)
c.*2170A>T (n.*2170A>T)
c.2273A>T (p.Glu758Val)
c.*756A>T (n.*756A>T)
c.*2280A>T (n.*2280A>T)
c.2030A>T (p.Glu677Val)
c.47A>T (p.Glu16Val)
c.106A>T
c.1402-10203A>T (n.1402-10203A>T)
c.2366A>T (p.Glu789Val)
c.2546A>T (p.Glu849Val)
c.2213A>T (p.Glu738Val)
7g.117592625delCA2684619364CFTRc.2458del (p.Ile820Ter)
c.*2172del (n.*2172del)
c.2275del (p.Ile759Ter)
c.*758del (n.*758del)
c.*2282del (n.*2282del)
c.2032del (p.Ile678Ter)
c.49del (p.Ile17Ter)
c.108del
c.1402-10201del (n.1402-10201del)
c.2368del (p.Ile790Ter)
c.2548del (p.Ile850Ter)
c.2215del (p.Ile739Ter)
 gnomAD v4
7g.117592624A>CCA368981432CFTRc.2457A>C (p.Glu819Asp)
c.*2171A>C (n.*2171A>C)
c.2274A>C (p.Glu758Asp)
c.*757A>C (n.*757A>C)
c.*2281A>C (n.*2281A>C)
c.2031A>C (p.Glu677Asp)
c.48A>C (p.Glu16Asp)
c.107A>C
c.1402-10202A>C (n.1402-10202A>C)
c.2367A>C (p.Glu789Asp)
c.2547A>C (p.Glu849Asp)
c.2214A>C (p.Glu738Asp)
7g.117592624A>GCA457448980CFTRc.2457A>G (p.Glu819=)
c.*2171A>G (n.*2171A>G)
c.2274A>G (p.Glu758=)
c.*757A>G (n.*757A>G)
c.*2281A>G (n.*2281A>G)
c.2031A>G (p.Glu677=)
c.48A>G (p.Glu16=)
c.107A>G
c.1402-10202A>G (n.1402-10202A>G)
c.2367A>G (p.Glu789=)
c.2547A>G (p.Glu849=)
c.2214A>G (p.Glu738=)
7g.117592624A>TCA368981435CFTRc.2457A>T (p.Glu819Asp)
c.*2171A>T (n.*2171A>T)
c.2274A>T (p.Glu758Asp)
c.*757A>T (n.*757A>T)
c.*2281A>T (n.*2281A>T)
c.2031A>T (p.Glu677Asp)
c.48A>T (p.Glu16Asp)
c.107A>T
c.1402-10202A>T (n.1402-10202A>T)
c.2367A>T (p.Glu789Asp)
c.2547A>T (p.Glu849Asp)
c.2214A>T (p.Glu738Asp)
7g.117592625A=CA1737395690CFTRc.2458A= (p.Ile820=)
c.*2172A= (n.*2172A=)
c.2275A= (p.Ile759=)
c.*758A= (n.*758A=)
c.*2282A= (n.*2282A=)
c.2032A= (p.Ile678=)
c.49A= (p.Ile17=)
c.108A=
c.1402-10201A= (n.1402-10201A=)
c.2368A= (p.Ile790=)
c.2548A= (p.Ile850=)
c.2215A= (p.Ile739=)
7g.117592625A>CCA368981437CFTRc.2458A>C (p.Ile820Leu)
c.*2172A>C (n.*2172A>C)
c.2275A>C (p.Ile759Leu)
c.*758A>C (n.*758A>C)
c.*2282A>C (n.*2282A>C)
c.2032A>C (p.Ile678Leu)
c.49A>C (p.Ile17Leu)
c.108A>C
c.1402-10201A>C (n.1402-10201A>C)
c.2368A>C (p.Ile790Leu)
c.2548A>C (p.Ile850Leu)
c.2215A>C (p.Ile739Leu)
 ClinVar
7g.117592625A>GCA368981438CFTRc.2458A>G (p.Ile820Val)
c.*2172A>G (n.*2172A>G)
c.2275A>G (p.Ile759Val)
c.*758A>G (n.*758A>G)
c.*2282A>G (n.*2282A>G)
c.2032A>G (p.Ile678Val)
c.49A>G (p.Ile17Val)
c.108A>G
c.1402-10201A>G (n.1402-10201A>G)
c.2368A>G (p.Ile790Val)
c.2548A>G (p.Ile850Val)
c.2215A>G (p.Ile739Val)
 ClinVar
7g.117592625A>TCA368981439CFTRc.2458A>T (p.Ile820Leu)
c.*2172A>T (n.*2172A>T)
c.2275A>T (p.Ile759Leu)
c.*758A>T (n.*758A>T)
c.*2282A>T (n.*2282A>T)
c.2032A>T (p.Ile678Leu)
c.49A>T (p.Ile17Leu)
c.108A>T
c.1402-10201A>T (n.1402-10201A>T)
c.2368A>T (p.Ile790Leu)
c.2548A>T (p.Ile850Leu)
c.2215A>T (p.Ile739Leu)
 dbSNP gnomAD v2 gnomAD v4
7g.117592626T>ACA368981442CFTRc.2459T>A (p.Ile820Lys)
c.*2173T>A (n.*2173T>A)
c.2276T>A (p.Ile759Lys)
c.*759T>A (n.*759T>A)
c.*2283T>A (n.*2283T>A)
c.2033T>A (p.Ile678Lys)
c.50T>A (p.Ile17Lys)
c.109T>A
c.1402-10200T>A (n.1402-10200T>A)
c.2369T>A (p.Ile790Lys)
c.2549T>A (p.Ile850Lys)
c.2216T>A (p.Ile739Lys)
7g.117592626T>CCA368981444CFTRc.2459T>C (p.Ile820Thr)
c.*2173T>C (n.*2173T>C)
c.2276T>C (p.Ile759Thr)
c.*759T>C (n.*759T>C)
c.*2283T>C (n.*2283T>C)
c.2033T>C (p.Ile678Thr)
c.50T>C (p.Ile17Thr)
c.109T>C
c.1402-10200T>C (n.1402-10200T>C)
c.2369T>C (p.Ile790Thr)
c.2549T>C (p.Ile850Thr)
c.2216T>C (p.Ile739Thr)
 gnomAD v4
7g.117592626T>GCA368981447CFTRc.2459T>G (p.Ile820Arg)
c.*2173T>G (n.*2173T>G)
c.2276T>G (p.Ile759Arg)
c.*759T>G (n.*759T>G)
c.*2283T>G (n.*2283T>G)
c.2033T>G (p.Ile678Arg)
c.50T>G (p.Ile17Arg)
c.109T>G
c.1402-10200T>G (n.1402-10200T>G)
c.2369T>G (p.Ile790Arg)
c.2549T>G (p.Ile850Arg)
c.2216T>G (p.Ile739Arg)
7g.117592627A=CA1737395697CFTRc.2460A= (p.Ile820=)
c.*2174A= (n.*2174A=)
c.2277A= (p.Ile759=)
c.*760A= (n.*760A=)
c.*2284A= (n.*2284A=)
c.2034A= (p.Ile678=)
c.51A= (p.Ile17=)
c.110A=
c.1402-10199A= (n.1402-10199A=)
c.2370A= (p.Ile790=)
c.2550A= (p.Ile850=)
c.2217A= (p.Ile739=)
7g.117592627A>CCA457448981CFTRc.2460A>C (p.Ile820=)
c.*2174A>C (n.*2174A>C)
c.2277A>C (p.Ile759=)
c.*760A>C (n.*760A>C)
c.*2284A>C (n.*2284A>C)
c.2034A>C (p.Ile678=)
c.51A>C (p.Ile17=)
c.110A>C
c.1402-10199A>C (n.1402-10199A>C)
c.2370A>C (p.Ile790=)
c.2550A>C (p.Ile850=)
c.2217A>C (p.Ile739=)
7g.117592627A>GCA368981449CFTRc.2460A>G (p.Ile820Met)
c.*2174A>G (n.*2174A>G)
c.2277A>G (p.Ile759Met)
c.*760A>G (n.*760A>G)
c.*2284A>G (n.*2284A>G)
c.2034A>G (p.Ile678Met)
c.51A>G (p.Ile17Met)
c.110A>G
c.1402-10199A>G (n.1402-10199A>G)
c.2370A>G (p.Ile790Met)
c.2550A>G (p.Ile850Met)
c.2217A>G (p.Ile739Met)
 gnomAD v4
7g.117592627A>TCA4451184CFTRc.2460A>T (p.Ile820=)
c.*2174A>T (n.*2174A>T)
c.2277A>T (p.Ile759=)
c.*760A>T (n.*760A>T)
c.*2284A>T (n.*2284A>T)
c.2034A>T (p.Ile678=)
c.51A>T (p.Ile17=)
c.110A>T
c.1402-10199A>T (n.1402-10199A>T)
c.2370A>T (p.Ile790=)
c.2550A>T (p.Ile850=)
c.2217A>T (p.Ile739=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592628A=CA1737395705CFTRc.2461A= (p.Ser821=)
c.*2175A= (n.*2175A=)
c.2278A= (p.Ser760=)
c.*761A= (n.*761A=)
c.*2285A= (n.*2285A=)
c.2035A= (p.Ser679=)
c.52A= (p.Ser18=)
c.111A=
c.1402-10198A= (n.1402-10198A=)
c.2371A= (p.Ser791=)
c.2551A= (p.Ser851=)
c.2218A= (p.Ser740=)
7g.117592628A>CCA368981452CFTRc.2461A>C (p.Ser821Arg)
c.*2175A>C (n.*2175A>C)
c.2278A>C (p.Ser760Arg)
c.*761A>C (n.*761A>C)
c.*2285A>C (n.*2285A>C)
c.2035A>C (p.Ser679Arg)
c.52A>C (p.Ser18Arg)
c.111A>C
c.1402-10198A>C (n.1402-10198A>C)
c.2371A>C (p.Ser791Arg)
c.2551A>C (p.Ser851Arg)
c.2218A>C (p.Ser740Arg)
 dbSNP gnomAD v3 gnomAD v4
7g.117592628A>GCA368981455CFTRc.2461A>G (p.Ser821Gly)
c.*2175A>G (n.*2175A>G)
c.2278A>G (p.Ser760Gly)
c.*761A>G (n.*761A>G)
c.*2285A>G (n.*2285A>G)
c.2035A>G (p.Ser679Gly)
c.52A>G (p.Ser18Gly)
c.111A>G
c.1402-10198A>G (n.1402-10198A>G)
c.2371A>G (p.Ser791Gly)
c.2551A>G (p.Ser851Gly)
c.2218A>G (p.Ser740Gly)
 gnomAD v4
7g.117592628A>TCA368981458CFTRc.2461A>T (p.Ser821Cys)
c.*2175A>T (n.*2175A>T)
c.2278A>T (p.Ser760Cys)
c.*761A>T (n.*761A>T)
c.*2285A>T (n.*2285A>T)
c.2035A>T (p.Ser679Cys)
c.52A>T (p.Ser18Cys)
c.111A>T
c.1402-10198A>T (n.1402-10198A>T)
c.2371A>T (p.Ser791Cys)
c.2551A>T (p.Ser851Cys)
c.2218A>T (p.Ser740Cys)
 gnomAD v4
7g.117592628_117592630delinsAGTCA1737395703CFTRc.2461_2463delinsAGT (p.Ser821=)
c.*2175_*2177delinsAGT (n.*2175_*2177delinsAGT)
c.2278_2280delinsAGT (p.Ser760=)
c.*761_*763delinsAGT (n.*761_*763delinsAGT)
c.*2285_*2287delinsAGT (n.*2285_*2287delinsAGT)
c.2035_2037delinsAGT (p.Ser679=)
c.52_54delinsAGT (p.Ser18=)
c.111_113delinsAGT
c.1402-10198_1402-10196delinsAGT (n.1402-10198_1402-10196delinsAGT)
c.2371_2373delinsAGT (p.Ser791=)
c.2551_2553delinsAGT (p.Ser851=)
c.2218_2220delinsAGT (p.Ser740=)
7g.117592629G>ACA368981462CFTRc.2462G>A (p.Ser821Asn)
c.*2176G>A (n.*2176G>A)
c.2279G>A (p.Ser760Asn)
c.*762G>A (n.*762G>A)
c.*2286G>A (n.*2286G>A)
c.2036G>A (p.Ser679Asn)
c.53G>A (p.Ser18Asn)
c.112G>A
c.1402-10197G>A (n.1402-10197G>A)
c.2372G>A (p.Ser791Asn)
c.2552G>A (p.Ser851Asn)
c.2219G>A (p.Ser740Asn)
 ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4
7g.117592629G>CCA368981465CFTRc.2462G>C (p.Ser821Thr)
c.*2176G>C (n.*2176G>C)
c.2279G>C (p.Ser760Thr)
c.*762G>C (n.*762G>C)
c.*2286G>C (n.*2286G>C)
c.2036G>C (p.Ser679Thr)
c.53G>C (p.Ser18Thr)
c.112G>C
c.1402-10197G>C (n.1402-10197G>C)
c.2372G>C (p.Ser791Thr)
c.2552G>C (p.Ser851Thr)
c.2219G>C (p.Ser740Thr)
7g.117592629G=CA1737395710CFTRc.2462G= (p.Ser821=)
c.*2176G= (n.*2176G=)
c.2279G= (p.Ser760=)
c.*762G= (n.*762G=)
c.*2286G= (n.*2286G=)
c.2036G= (p.Ser679=)
c.53G= (p.Ser18=)
c.112G=
c.1402-10197G= (n.1402-10197G=)
c.2372G= (p.Ser791=)
c.2552G= (p.Ser851=)
c.2219G= (p.Ser740=)
7g.117592629G>TCA368981469CFTRc.2462G>T (p.Ser821Ile)
c.*2176G>T (n.*2176G>T)
c.2279G>T (p.Ser760Ile)
c.*762G>T (n.*762G>T)
c.*2286G>T (n.*2286G>T)
c.2036G>T (p.Ser679Ile)
c.53G>T (p.Ser18Ile)
c.112G>T
c.1402-10197G>T (n.1402-10197G>T)
c.2372G>T (p.Ser791Ile)
c.2552G>T (p.Ser851Ile)
c.2219G>T (p.Ser740Ile)
7g.117592630_117592631delCA276108CFTRc.2463_2464del (p.Ser821ArgfsTer4)
c.*2177_*2178del (n.*2177_*2178del)
c.2280_2281del (p.Ser760ArgfsTer4)
c.*763_*764del (n.*763_*764del)
c.*2287_*2288del (n.*2287_*2288del)
c.2037_2038del (p.Ser679ArgfsTer4)
c.54_55del (p.Ser18ArgfsTer4)
c.113_114del
c.1402-10196_1402-10195del (n.1402-10196_1402-10195del)
c.2373_2374del (p.Ser791ArgfsTer4)
c.2553_2554del (p.Ser851ArgfsTer4)
c.2220_2221del (p.Ser740ArgfsTer4)
 ClinVar dbSNP gnomAD v4
7g.117592630T>ACA368981475CFTRc.2463T>A (p.Ser821Arg)
c.*2177T>A (n.*2177T>A)
c.2280T>A (p.Ser760Arg)
c.*763T>A (n.*763T>A)
c.*2287T>A (n.*2287T>A)
c.2037T>A (p.Ser679Arg)
c.54T>A (p.Ser18Arg)
c.113T>A
c.1402-10196T>A (n.1402-10196T>A)
c.2373T>A (p.Ser791Arg)
c.2553T>A (p.Ser851Arg)
c.2220T>A (p.Ser740Arg)
 gnomAD v4
7g.117592630T>CCA457448982CFTRc.2463T>C (p.Ser821=)
c.*2177T>C (n.*2177T>C)
c.2280T>C (p.Ser760=)
c.*763T>C (n.*763T>C)
c.*2287T>C (n.*2287T>C)
c.2037T>C (p.Ser679=)
c.54T>C (p.Ser18=)
c.113T>C
c.1402-10196T>C (n.1402-10196T>C)
c.2373T>C (p.Ser791=)
c.2553T>C (p.Ser851=)
c.2220T>C (p.Ser740=)
7g.117592630T>GCA368981479CFTRc.2463T>G (p.Ser821Arg)
c.*2177T>G (n.*2177T>G)
c.2280T>G (p.Ser760Arg)
c.*763T>G (n.*763T>G)
c.*2287T>G (n.*2287T>G)
c.2037T>G (p.Ser679Arg)
c.54T>G (p.Ser18Arg)
c.113T>G
c.1402-10196T>G (n.1402-10196T>G)
c.2373T>G (p.Ser791Arg)
c.2553T>G (p.Ser851Arg)
c.2220T>G (p.Ser740Arg)
7g.117592631G>ACA326820CFTRc.2464G>A (p.Glu822Lys)
c.*2178G>A (n.*2178G>A)
c.2281G>A (p.Glu761Lys)
c.*764G>A (n.*764G>A)
c.*2288G>A (n.*2288G>A)
c.2038G>A (p.Glu680Lys)
c.55G>A (p.Glu19Lys)
c.114G>A
c.1402-10195G>A (n.1402-10195G>A)
c.2374G>A (p.Glu792Lys)
c.2554G>A (p.Glu852Lys)
c.2221G>A (p.Glu741Lys)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117592631G>CCA368981487CFTRc.2464G>C (p.Glu822Gln)
c.*2178G>C (n.*2178G>C)
c.2281G>C (p.Glu761Gln)
c.*764G>C (n.*764G>C)
c.*2288G>C (n.*2288G>C)
c.2038G>C (p.Glu680Gln)
c.55G>C (p.Glu19Gln)
c.114G>C
c.1402-10195G>C (n.1402-10195G>C)
c.2374G>C (p.Glu792Gln)
c.2554G>C (p.Glu852Gln)
c.2221G>C (p.Glu741Gln)
7g.117592631G=CA1737395716CFTRc.2464G= (p.Glu822=)
c.*2178G= (n.*2178G=)
c.2281G= (p.Glu761=)
c.*764G= (n.*764G=)
c.*2288G= (n.*2288G=)
c.2038G= (p.Glu680=)
c.55G= (p.Glu19=)
c.114G=
c.1402-10195G= (n.1402-10195G=)
c.2374G= (p.Glu792=)
c.2554G= (p.Glu852=)
c.2221G= (p.Glu741=)
7g.117592631G>TCA328102CFTRc.2464G>T (p.Glu822Ter)
c.*2178G>T (n.*2178G>T)
c.2281G>T (p.Glu761Ter)
c.*764G>T (n.*764G>T)
c.*2288G>T (n.*2288G>T)
c.2038G>T (p.Glu680Ter)
c.55G>T (p.Glu19Ter)
c.114G>T
c.1402-10195G>T (n.1402-10195G>T)
c.2374G>T (p.Glu792Ter)
c.2554G>T (p.Glu852Ter)
c.2221G>T (p.Glu741Ter)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592634_117592636delCA2684619365CFTRc.2467_2469del (p.Glu823del)
c.*2181_*2183del (n.*2181_*2183del)
c.2284_2286del (p.Glu762del)
c.*767_*769del (n.*767_*769del)
c.*2291_*2293del (n.*2291_*2293del)
c.2041_2043del (p.Glu681del)
c.58_60del (p.Glu20del)
c.117_119del
c.1402-10192_1402-10190del (n.1402-10192_1402-10190del)
c.2377_2379del (p.Glu793del)
c.2557_2559del (p.Glu853del)
c.2224_2226del (p.Glu742del)
 gnomAD v4
7g.117592632A>CCA368981493CFTRc.2465A>C (p.Glu822Ala)
c.*2179A>C (n.*2179A>C)
c.2282A>C (p.Glu761Ala)
c.*765A>C (n.*765A>C)
c.*2289A>C (n.*2289A>C)
c.2039A>C (p.Glu680Ala)
c.56A>C (p.Glu19Ala)
c.115A>C
c.1402-10194A>C (n.1402-10194A>C)
c.2375A>C (p.Glu792Ala)
c.2555A>C (p.Glu852Ala)
c.2222A>C (p.Glu741Ala)
7g.117592632A>GCA368981499CFTRc.2465A>G (p.Glu822Gly)
c.*2179A>G (n.*2179A>G)
c.2282A>G (p.Glu761Gly)
c.*765A>G (n.*765A>G)
c.*2289A>G (n.*2289A>G)
c.2039A>G (p.Glu680Gly)
c.56A>G (p.Glu19Gly)
c.115A>G
c.1402-10194A>G (n.1402-10194A>G)
c.2375A>G (p.Glu792Gly)
c.2555A>G (p.Glu852Gly)
c.2222A>G (p.Glu741Gly)
7g.117592632A>TCA368981495CFTRc.2465A>T (p.Glu822Val)
c.*2179A>T (n.*2179A>T)
c.2282A>T (p.Glu761Val)
c.*765A>T (n.*765A>T)
c.*2289A>T (n.*2289A>T)
c.2039A>T (p.Glu680Val)
c.56A>T (p.Glu19Val)
c.115A>T
c.1402-10194A>T (n.1402-10194A>T)
c.2375A>T (p.Glu792Val)
c.2555A>T (p.Glu852Val)
c.2222A>T (p.Glu741Val)
7g.117592633A>CCA368981502CFTRc.2466A>C (p.Glu822Asp)
c.*2180A>C (n.*2180A>C)
c.2283A>C (p.Glu761Asp)
c.*766A>C (n.*766A>C)
c.*2290A>C (n.*2290A>C)
c.2040A>C (p.Glu680Asp)
c.57A>C (p.Glu19Asp)
c.116A>C
c.1402-10193A>C (n.1402-10193A>C)
c.2376A>C (p.Glu792Asp)
c.2556A>C (p.Glu852Asp)
c.2223A>C (p.Glu741Asp)
7g.117592633A>GCA457448983CFTRc.2466A>G (p.Glu822=)
c.*2180A>G (n.*2180A>G)
c.2283A>G (p.Glu761=)
c.*766A>G (n.*766A>G)
c.*2290A>G (n.*2290A>G)
c.2040A>G (p.Glu680=)
c.57A>G (p.Glu19=)
c.116A>G
c.1402-10193A>G (n.1402-10193A>G)
c.2376A>G (p.Glu792=)
c.2556A>G (p.Glu852=)
c.2223A>G (p.Glu741=)
 gnomAD v4
7g.117592633A>TCA368981505CFTRc.2466A>T (p.Glu822Asp)
c.*2180A>T (n.*2180A>T)
c.2283A>T (p.Glu761Asp)
c.*766A>T (n.*766A>T)
c.*2290A>T (n.*2290A>T)
c.2040A>T (p.Glu680Asp)
c.57A>T (p.Glu19Asp)
c.116A>T
c.1402-10193A>T (n.1402-10193A>T)
c.2376A>T (p.Glu792Asp)
c.2556A>T (p.Glu852Asp)
c.2223A>T (p.Glu741Asp)
7g.117592634G>ACA368981510CFTRc.2467G>A (p.Glu823Lys)
c.*2181G>A (n.*2181G>A)
c.2284G>A (p.Glu762Lys)
c.*767G>A (n.*767G>A)
c.*2291G>A (n.*2291G>A)
c.2041G>A (p.Glu681Lys)
c.58G>A (p.Glu20Lys)
c.117G>A
c.1402-10192G>A (n.1402-10192G>A)
c.2377G>A (p.Glu793Lys)
c.2557G>A (p.Glu853Lys)
c.2224G>A (p.Glu742Lys)
 dbSNP gnomAD v2 gnomAD v4
7g.117592634G>CCA368981512CFTRc.2467G>C (p.Glu823Gln)
c.*2181G>C (n.*2181G>C)
c.2284G>C (p.Glu762Gln)
c.*767G>C (n.*767G>C)
c.*2291G>C (n.*2291G>C)
c.2041G>C (p.Glu681Gln)
c.58G>C (p.Glu20Gln)
c.117G>C
c.1402-10192G>C (n.1402-10192G>C)
c.2377G>C (p.Glu793Gln)
c.2557G>C (p.Glu853Gln)
c.2224G>C (p.Glu742Gln)
7g.117592634G=CA1737395721CFTRc.2467G= (p.Glu823=)
c.*2181G= (n.*2181G=)
c.2284G= (p.Glu762=)
c.*767G= (n.*767G=)
c.*2291G= (n.*2291G=)
c.2041G= (p.Glu681=)
c.58G= (p.Glu20=)
c.117G=
c.1402-10192G= (n.1402-10192G=)
c.2377G= (p.Glu793=)
c.2557G= (p.Glu853=)
c.2224G= (p.Glu742=)
7g.117592634G>TCA326821CFTRc.2467G>T (p.Glu823Ter)
c.*2181G>T (n.*2181G>T)
c.2284G>T (p.Glu762Ter)
c.*767G>T (n.*767G>T)
c.*2291G>T (n.*2291G>T)
c.2041G>T (p.Glu681Ter)
c.58G>T (p.Glu20Ter)
c.117G>T
c.1402-10192G>T (n.1402-10192G>T)
c.2377G>T (p.Glu793Ter)
c.2557G>T (p.Glu853Ter)
c.2224G>T (p.Glu742Ter)
 ClinVar dbSNP gnomAD v4 COSMIC
7g.117592635A>CCA368981519CFTRc.2468A>C (p.Glu823Ala)
c.*2182A>C (n.*2182A>C)
c.2285A>C (p.Glu762Ala)
c.*768A>C (n.*768A>C)
c.*2292A>C (n.*2292A>C)
c.2042A>C (p.Glu681Ala)
c.59A>C (p.Glu20Ala)
c.118A>C
c.1402-10191A>C (n.1402-10191A>C)
c.2378A>C (p.Glu793Ala)
c.2558A>C (p.Glu853Ala)
c.2225A>C (p.Glu742Ala)
7g.117592635A>GCA368981523CFTRc.2468A>G (p.Glu823Gly)
c.*2182A>G (n.*2182A>G)
c.2285A>G (p.Glu762Gly)
c.*768A>G (n.*768A>G)
c.*2292A>G (n.*2292A>G)
c.2042A>G (p.Glu681Gly)
c.59A>G (p.Glu20Gly)
c.118A>G
c.1402-10191A>G (n.1402-10191A>G)
c.2378A>G (p.Glu793Gly)
c.2558A>G (p.Glu853Gly)
c.2225A>G (p.Glu742Gly)
7g.117592635A>TCA368981527CFTRc.2468A>T (p.Glu823Val)
c.*2182A>T (n.*2182A>T)
c.2285A>T (p.Glu762Val)
c.*768A>T (n.*768A>T)
c.*2292A>T (n.*2292A>T)
c.2042A>T (p.Glu681Val)
c.59A>T (p.Glu20Val)
c.118A>T
c.1402-10191A>T (n.1402-10191A>T)
c.2378A>T (p.Glu793Val)
c.2558A>T (p.Glu853Val)
c.2225A>T (p.Glu742Val)
7g.117592636A=CA1737395724CFTRc.2469A= (p.Glu823=)
c.*2183A= (n.*2183A=)
c.2286A= (p.Glu762=)
c.*769A= (n.*769A=)
c.*2293A= (n.*2293A=)
c.2043A= (p.Glu681=)
c.60A= (p.Glu20=)
c.119A=
c.1402-10190A= (n.1402-10190A=)
c.2379A= (p.Glu793=)
c.2559A= (p.Glu853=)
c.2226A= (p.Glu742=)
7g.117592636A>CCA368981532CFTRc.2469A>C (p.Glu823Asp)
c.*2183A>C (n.*2183A>C)
c.2286A>C (p.Glu762Asp)
c.*769A>C (n.*769A>C)
c.*2293A>C (n.*2293A>C)
c.2043A>C (p.Glu681Asp)
c.60A>C (p.Glu20Asp)
c.119A>C
c.1402-10190A>C (n.1402-10190A>C)
c.2379A>C (p.Glu793Asp)
c.2559A>C (p.Glu853Asp)
c.2226A>C (p.Glu742Asp)
7g.117592636A>GCA457448984CFTRc.2469A>G (p.Glu823=)
c.*2183A>G (n.*2183A>G)
c.2286A>G (p.Glu762=)
c.*769A>G (n.*769A>G)
c.*2293A>G (n.*2293A>G)
c.2043A>G (p.Glu681=)
c.60A>G (p.Glu20=)
c.119A>G
c.1402-10190A>G (n.1402-10190A>G)
c.2379A>G (p.Glu793=)
c.2559A>G (p.Glu853=)
c.2226A>G (p.Glu742=)
7g.117592636A>TCA4451185CFTRc.2469A>T (p.Glu823Asp)
c.*2183A>T (n.*2183A>T)
c.2286A>T (p.Glu762Asp)
c.*769A>T (n.*769A>T)
c.*2293A>T (n.*2293A>T)
c.2043A>T (p.Glu681Asp)
c.60A>T (p.Glu20Asp)
c.119A>T
c.1402-10190A>T (n.1402-10190A>T)
c.2379A>T (p.Glu793Asp)
c.2559A>T (p.Glu853Asp)
c.2226A>T (p.Glu742Asp)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592637A>CCA368981540CFTRc.2470A>C (p.Ile824Leu)
c.*2184A>C (n.*2184A>C)
c.2287A>C (p.Ile763Leu)
c.*770A>C (n.*770A>C)
c.*2294A>C (n.*2294A>C)
c.2044A>C (p.Ile682Leu)
c.61A>C (p.Ile21Leu)
c.120A>C
c.1402-10189A>C (n.1402-10189A>C)
c.2380A>C (p.Ile794Leu)
c.2560A>C (p.Ile854Leu)
c.2227A>C (p.Ile743Leu)
7g.117592637A>GCA368981543CFTRc.2470A>G (p.Ile824Val)
c.*2184A>G (n.*2184A>G)
c.2287A>G (p.Ile763Val)
c.*770A>G (n.*770A>G)
c.*2294A>G (n.*2294A>G)
c.2044A>G (p.Ile682Val)
c.61A>G (p.Ile21Val)
c.120A>G
c.1402-10189A>G (n.1402-10189A>G)
c.2380A>G (p.Ile794Val)
c.2560A>G (p.Ile854Val)
c.2227A>G (p.Ile743Val)
 ClinVar gnomAD v4
7g.117592637A>TCA368981552CFTRc.2470A>T (p.Ile824Phe)
c.*2184A>T (n.*2184A>T)
c.2287A>T (p.Ile763Phe)
c.*770A>T (n.*770A>T)
c.*2294A>T (n.*2294A>T)
c.2044A>T (p.Ile682Phe)
c.61A>T (p.Ile21Phe)
c.120A>T
c.1402-10189A>T (n.1402-10189A>T)
c.2380A>T (p.Ile794Phe)
c.2560A>T (p.Ile854Phe)
c.2227A>T (p.Ile743Phe)
7g.117592637_117592638delinsATCA1737395728CFTRc.2470_2471delinsAT (p.Ile824=)
c.*2184_*2185delinsAT (n.*2184_*2185delinsAT)
c.2287_2288delinsAT (p.Ile763=)
c.*770_*771delinsAT (n.*770_*771delinsAT)
c.*2294_*2295delinsAT (n.*2294_*2295delinsAT)
c.2044_2045delinsAT (p.Ile682=)
c.61_62delinsAT (p.Ile21=)
c.120_121delinsAT
c.1402-10189_1402-10188delinsAT (n.1402-10189_1402-10188delinsAT)
c.2380_2381delinsAT (p.Ile794=)
c.2560_2561delinsAT (p.Ile854=)
c.2227_2228delinsAT (p.Ile743=)
7g.117592638T>ACA368981565CFTRc.2471T>A (p.Ile824Asn)
c.*2185T>A (n.*2185T>A)
c.2288T>A (p.Ile763Asn)
c.*771T>A (n.*771T>A)
c.*2295T>A (n.*2295T>A)
c.2045T>A (p.Ile682Asn)
c.62T>A (p.Ile21Asn)
c.121T>A
c.1402-10188T>A (n.1402-10188T>A)
c.2381T>A (p.Ile794Asn)
c.2561T>A (p.Ile854Asn)
c.2228T>A (p.Ile743Asn)
7g.117592638T>CCA368981558CFTRc.2471T>C (p.Ile824Thr)
c.*2185T>C (n.*2185T>C)
c.2288T>C (p.Ile763Thr)
c.*771T>C (n.*771T>C)
c.*2295T>C (n.*2295T>C)
c.2045T>C (p.Ile682Thr)
c.62T>C (p.Ile21Thr)
c.121T>C
c.1402-10188T>C (n.1402-10188T>C)
c.2381T>C (p.Ile794Thr)
c.2561T>C (p.Ile854Thr)
c.2228T>C (p.Ile743Thr)
7g.117592638T>GCA368981562CFTRc.2471T>G (p.Ile824Ser)
c.*2185T>G (n.*2185T>G)
c.2288T>G (p.Ile763Ser)
c.*771T>G (n.*771T>G)
c.*2295T>G (n.*2295T>G)
c.2045T>G (p.Ile682Ser)
c.62T>G (p.Ile21Ser)
c.121T>G
c.1402-10188T>G (n.1402-10188T>G)
c.2381T>G (p.Ile794Ser)
c.2561T>G (p.Ile854Ser)
c.2228T>G (p.Ile743Ser)
7g.117592639dupCA913111881CFTRc.2472dup (p.Asn825Ter)
c.*2186dup (n.*2186dup)
c.2289dup (p.Asn764Ter)
c.*772dup (n.*772dup)
c.*2296dup (n.*2296dup)
c.2046dup (p.Asn683Ter)
c.63dup (p.Asn22Ter)
c.122dup
c.1402-10187dup (n.1402-10187dup)
c.2382dup (p.Asn795Ter)
c.2562dup (p.Asn855Ter)
c.2229dup (p.Asn744Ter)
7g.117592639delCA326823CFTRc.2472del (p.Asn825ThrfsTer5)
c.*2186del (n.*2186del)
c.2289del (p.Asn764ThrfsTer5)
c.*772del (n.*772del)
c.*2296del (n.*2296del)
c.2046del (p.Asn683ThrfsTer5)
c.63del (p.Asn22ThrfsTer5)
c.122del
c.1402-10187del (n.1402-10187del)
c.2382del (p.Asn795ThrfsTer5)
c.2562del (p.Asn855ThrfsTer5)
c.2229del (p.Asn744ThrfsTer5)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592639T>ACA457448985CFTRc.2472T>A (p.Ile824=)
c.*2186T>A (n.*2186T>A)
c.2289T>A (p.Ile763=)
c.*772T>A (n.*772T>A)
c.*2296T>A (n.*2296T>A)
c.2046T>A (p.Ile682=)
c.63T>A (p.Ile21=)
c.122T>A
c.1402-10187T>A (n.1402-10187T>A)
c.2382T>A (p.Ile794=)
c.2562T>A (p.Ile854=)
c.2229T>A (p.Ile743=)
 ClinVar
7g.117592639T>CCA457448986CFTRc.2472T>C (p.Ile824=)
c.*2186T>C (n.*2186T>C)
c.2289T>C (p.Ile763=)
c.*772T>C (n.*772T>C)
c.*2296T>C (n.*2296T>C)
c.2046T>C (p.Ile682=)
c.63T>C (p.Ile21=)
c.122T>C
c.1402-10187T>C (n.1402-10187T>C)
c.2382T>C (p.Ile794=)
c.2562T>C (p.Ile854=)
c.2229T>C (p.Ile743=)
 ClinVar dbSNP gnomAD v4
7g.117592639T>GCA368981570CFTRc.2472T>G (p.Ile824Met)
c.*2186T>G (n.*2186T>G)
c.2289T>G (p.Ile763Met)
c.*772T>G (n.*772T>G)
c.*2296T>G (n.*2296T>G)
c.2046T>G (p.Ile682Met)
c.63T>G (p.Ile21Met)
c.122T>G
c.1402-10187T>G (n.1402-10187T>G)
c.2382T>G (p.Ile794Met)
c.2562T>G (p.Ile854Met)
c.2229T>G (p.Ile743Met)
 ClinVar
7g.117592639T=CA1737395736CFTRc.2472T= (p.Ile824=)
c.*2186T= (n.*2186T=)
c.2289T= (p.Ile763=)
c.*772T= (n.*772T=)
c.*2296T= (n.*2296T=)
c.2046T= (p.Ile682=)
c.63T= (p.Ile21=)
c.122T=
c.1402-10187T= (n.1402-10187T=)
c.2382T= (p.Ile794=)
c.2562T= (p.Ile854=)
c.2229T= (p.Ile743=)
7g.117592640A>CCA368981573CFTRc.2473A>C (p.Asn825His)
c.*2187A>C (n.*2187A>C)
c.2290A>C (p.Asn764His)
c.*773A>C (n.*773A>C)
c.*2297A>C (n.*2297A>C)
c.2047A>C (p.Asn683His)
c.64A>C (p.Asn22His)
c.123A>C
c.1402-10186A>C (n.1402-10186A>C)
c.2383A>C (p.Asn795His)
c.2563A>C (p.Asn855His)
c.2230A>C (p.Asn744His)
7g.117592640A>GCA368981574CFTRc.2473A>G (p.Asn825Asp)
c.*2187A>G (n.*2187A>G)
c.2290A>G (p.Asn764Asp)
c.*773A>G (n.*773A>G)
c.*2297A>G (n.*2297A>G)
c.2047A>G (p.Asn683Asp)
c.64A>G (p.Asn22Asp)
c.123A>G
c.1402-10186A>G (n.1402-10186A>G)
c.2383A>G (p.Asn795Asp)
c.2563A>G (p.Asn855Asp)
c.2230A>G (p.Asn744Asp)
 gnomAD v4
7g.117592640A>TCA368981575CFTRc.2473A>T (p.Asn825Tyr)
c.*2187A>T (n.*2187A>T)
c.2290A>T (p.Asn764Tyr)
c.*773A>T (n.*773A>T)
c.*2297A>T (n.*2297A>T)
c.2047A>T (p.Asn683Tyr)
c.64A>T (p.Asn22Tyr)
c.123A>T
c.1402-10186A>T (n.1402-10186A>T)
c.2383A>T (p.Asn795Tyr)
c.2563A>T (p.Asn855Tyr)
c.2230A>T (p.Asn744Tyr)
7g.117592642_117592645dupCA658822501CFTRc.2475_2478dup (p.Glu827ArgfsTer10)
c.*2189_*2192dup (n.*2189_*2192dup)
c.2292_2295dup (p.Glu766ArgfsTer10)
c.*775_*778dup (n.*775_*778dup)
c.*2299_*2302dup (n.*2299_*2302dup)
c.2049_2052dup (p.Glu685ArgfsTer10)
c.66_69dup (p.Glu24ArgfsTer10)
c.125_128dup
c.1402-10184_1402-10181dup (n.1402-10184_1402-10181dup)
c.2385_2388dup (p.Glu797ArgfsTer10)
c.2565_2568dup (p.Glu857ArgfsTer10)
c.2232_2235dup (p.Glu746ArgfsTer10)
 ClinVar dbSNP
7g.117592641A=CA1737395744CFTRc.2474A= (p.Asn825=)
c.*2188A= (n.*2188A=)
c.2291A= (p.Asn764=)
c.*774A= (n.*774A=)
c.*2298A= (n.*2298A=)
c.2048A= (p.Asn683=)
c.65A= (p.Asn22=)
c.124A=
c.1402-10185A= (n.1402-10185A=)
c.2384A= (p.Asn795=)
c.2564A= (p.Asn855=)
c.2231A= (p.Asn744=)
7g.117592641A>CCA368981577CFTRc.2474A>C (p.Asn825Thr)
c.*2188A>C (n.*2188A>C)
c.2291A>C (p.Asn764Thr)
c.*774A>C (n.*774A>C)
c.*2298A>C (n.*2298A>C)
c.2048A>C (p.Asn683Thr)
c.65A>C (p.Asn22Thr)
c.124A>C
c.1402-10185A>C (n.1402-10185A>C)
c.2384A>C (p.Asn795Thr)
c.2564A>C (p.Asn855Thr)
c.2231A>C (p.Asn744Thr)
7g.117592641A>GCA368981579CFTRc.2474A>G (p.Asn825Ser)
c.*2188A>G (n.*2188A>G)
c.2291A>G (p.Asn764Ser)
c.*774A>G (n.*774A>G)
c.*2298A>G (n.*2298A>G)
c.2048A>G (p.Asn683Ser)
c.65A>G (p.Asn22Ser)
c.124A>G
c.1402-10185A>G (n.1402-10185A>G)
c.2384A>G (p.Asn795Ser)
c.2564A>G (p.Asn855Ser)
c.2231A>G (p.Asn744Ser)
 ClinVar dbSNP gnomAD v2 gnomAD v4
7g.117592641A>TCA368981583CFTRc.2474A>T (p.Asn825Ile)
c.*2188A>T (n.*2188A>T)
c.2291A>T (p.Asn764Ile)
c.*774A>T (n.*774A>T)
c.*2298A>T (n.*2298A>T)
c.2048A>T (p.Asn683Ile)
c.65A>T (p.Asn22Ile)
c.124A>T
c.1402-10185A>T (n.1402-10185A>T)
c.2384A>T (p.Asn795Ile)
c.2564A>T (p.Asn855Ile)
c.2231A>T (p.Asn744Ile)
7g.117592642C>ACA368981587CFTRc.2475C>A (p.Asn825Lys)
c.*2189C>A (n.*2189C>A)
c.2292C>A (p.Asn764Lys)
c.*775C>A (n.*775C>A)
c.*2299C>A (n.*2299C>A)
c.2049C>A (p.Asn683Lys)
c.66C>A (p.Asn22Lys)
c.125C>A
c.1402-10184C>A (n.1402-10184C>A)
c.2385C>A (p.Asn795Lys)
c.2565C>A (p.Asn855Lys)
c.2232C>A (p.Asn744Lys)
 gnomAD v4
7g.117592642C=CA1737395751CFTRc.2475C= (p.Asn825=)
c.*2189C= (n.*2189C=)
c.2292C= (p.Asn764=)
c.*775C= (n.*775C=)
c.*2299C= (n.*2299C=)
c.2049C= (p.Asn683=)
c.66C= (p.Asn22=)
c.125C=
c.1402-10184C= (n.1402-10184C=)
c.2385C= (p.Asn795=)
c.2565C= (p.Asn855=)
c.2232C= (p.Asn744=)
7g.117592642C>GCA368981589CFTRc.2475C>G (p.Asn825Lys)
c.*2189C>G (n.*2189C>G)
c.2292C>G (p.Asn764Lys)
c.*775C>G (n.*775C>G)
c.*2299C>G (n.*2299C>G)
c.2049C>G (p.Asn683Lys)
c.66C>G (p.Asn22Lys)
c.125C>G
c.1402-10184C>G (n.1402-10184C>G)
c.2385C>G (p.Asn795Lys)
c.2565C>G (p.Asn855Lys)
c.2232C>G (p.Asn744Lys)
7g.117592642C>TCA4451186CFTRc.2475C>T (p.Asn825=)
c.*2189C>T (n.*2189C>T)
c.2292C>T (p.Asn764=)
c.*775C>T (n.*775C>T)
c.*2299C>T (n.*2299C>T)
c.2049C>T (p.Asn683=)
c.66C>T (p.Asn22=)
c.125C>T
c.1402-10184C>T (n.1402-10184C>T)
c.2385C>T (p.Asn795=)
c.2565C>T (p.Asn855=)
c.2232C>T (p.Asn744=)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4
7g.117592643G>ACA326824CFTRc.2476G>A (p.Glu826Lys)
c.*2190G>A (n.*2190G>A)
c.2293G>A (p.Glu765Lys)
c.*776G>A (n.*776G>A)
c.*2300G>A (n.*2300G>A)
c.2050G>A (p.Glu684Lys)
c.67G>A (p.Glu23Lys)
c.126G>A
c.1402-10183G>A (n.1402-10183G>A)
c.2386G>A (p.Glu796Lys)
c.2566G>A (p.Glu856Lys)
c.2233G>A (p.Glu745Lys)
 ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC
7g.117592643G>CCA368981599CFTRc.2476G>C (p.Glu826Gln)
c.*2190G>C (n.*2190G>C)
c.2293G>C (p.Glu765Gln)
c.*776G>C (n.*776G>C)
c.*2300G>C (n.*2300G>C)
c.2050G>C (p.Glu684Gln)
c.67G>C (p.Glu23Gln)
c.126G>C
c.1402-10183G>C (n.1402-10183G>C)
c.2386G>C (p.Glu796Gln)
c.2566G>C (p.Glu856Gln)
c.2233G>C (p.Glu745Gln)
7g.117592643G=CA1737395756CFTRc.2476G= (p.Glu826=)
c.*2190G= (n.*2190G=)
c.2293G= (p.Glu765=)
c.*776G= (n.*776G=)
c.*2300G= (n.*2300G=)
c.2050G= (p.Glu684=)
c.67G= (p.Glu23=)
c.126G=
c.1402-10183G= (n.1402-10183G=)
c.2386G= (p.Glu796=)
c.2566G= (p.Glu856=)
c.2233G= (p.Glu745=)
7g.117592643G>TCA368981594CFTRc.2476G>T (p.Glu826Ter)
c.*2190G>T (n.*2190G>T)
c.2293G>T (p.Glu765Ter)
c.*776G>T (n.*776G>T)
c.*2300G>T (n.*2300G>T)
c.2050G>T (p.Glu684Ter)
c.67G>T (p.Glu23Ter)
c.126G>T
c.1402-10183G>T (n.1402-10183G>T)
c.2386G>T (p.Glu796Ter)
c.2566G>T (p.Glu856Ter)
c.2233G>T (p.Glu745Ter)
 ClinVar dbSNP
7g.117592648_117592650delCA2580614250CFTRc.2481_2483del (p.Glu827del)
c.*2195_*2197del (n.*2195_*2197del)
c.2298_2300del (p.Glu766del)
c.*781_*783del (n.*781_*783del)
c.*2305_*2307del (n.*2305_*2307del)
c.2055_2057del (p.Glu685del)
c.72_74del (p.Glu24del)
c.131_133del
c.1402-10178_1402-10176del (n.1402-10178_1402-10176del)
c.2391_2393del (p.Glu797del)
c.2571_2573del (p.Glu857del)
c.2238_2240del (p.Glu746del)
 ClinVar dbSNP gnomAD v4
7g.117592644A>CCA368981604CFTRc.2477A>C (p.Glu826Ala)
c.*2191A>C (n.*2191A>C)
c.2294A>C (p.Glu765Ala)
c.*777A>C (n.*777A>C)
c.*2301A>C (n.*2301A>C)
c.2051A>C (p.Glu684Ala)
c.68A>C (p.Glu23Ala)
c.127A>C
c.1402-10182A>C (n.1402-10182A>C)
c.2387A>C (p.Glu796Ala)
c.2567A>C (p.Glu856Ala)
c.2234A>C (p.Glu745Ala)
7g.117592644A>GCA368981608CFTRc.2477A>G (p.Glu826Gly)
c.*2191A>G (n.*2191A>G)
c.2294A>G (p.Glu765Gly)
c.*777A>G (n.*777A>G)
c.*2301A>G (n.*2301A>G)
c.2051A>G (p.Glu684Gly)
c.68A>G (p.Glu23Gly)
c.127A>G
c.1402-10182A>G (n.1402-10182A>G)
c.2387A>G (p.Glu796Gly)
c.2567A>G (p.Glu856Gly)
c.2234A>G (p.Glu745Gly)
 gnomAD v4
7g.117592644A>TCA368981611CFTRc.2477A>T (p.Glu826Val)
c.*2191A>T (n.*2191A>T)
c.2294A>T (p.Glu765Val)
c.*777A>T (n.*777A>T)
c.*2301A>T (n.*2301A>T)
c.2051A>T (p.Glu684Val)
c.68A>T (p.Glu23Val)
c.127A>T
c.1402-10182A>T (n.1402-10182A>T)
c.2387A>T (p.Glu796Val)
c.2567A>T (p.Glu856Val)
c.2234A>T (p.Glu745Val)
7g.117592645A=CA1737395764CFTRc.2478A= (p.Glu826=)
c.*2192A= (n.*2192A=)
c.2295A= (p.Glu765=)
c.*778A= (n.*778A=)
c.*2302A= (n.*2302A=)
c.2052A= (p.Glu684=)
c.69A= (p.Glu23=)
c.128A=
c.1402-10181A= (n.1402-10181A=)
c.2388A= (p.Glu796=)
c.2568A= (p.Glu856=)
c.2235A= (p.Glu745=)
7g.117592645A>CCA4451187CFTRc.2478A>C (p.Glu826Asp)
c.*2192A>C (n.*2192A>C)
c.2295A>C (p.Glu765Asp)
c.*778A>C (n.*778A>C)
c.*2302A>C (n.*2302A>C)
c.2052A>C (p.Glu684Asp)
c.69A>C (p.Glu23Asp)
c.128A>C
c.1402-10181A>C (n.1402-10181A>C)
c.2388A>C (p.Glu796Asp)
c.2568A>C (p.Glu856Asp)
c.2235A>C (p.Glu745Asp)
 dbSNP ExAC gnomAD v2 gnomAD v4
7g.117592645A>GCA457448987CFTRc.2478A>G (p.Glu826=)
c.*2192A>G (n.*2192A>G)
c.2295A>G (p.Glu765=)
c.*778A>G (n.*778A>G)
c.*2302A>G (n.*2302A>G)
c.2052A>G (p.Glu684=)
c.69A>G (p.Glu23=)
c.128A>G
c.1402-10181A>G (n.1402-10181A>G)
c.2388A>G (p.Glu796=)
c.2568A>G (p.Glu856=)
c.2235A>G (p.Glu745=)
 gnomAD v4
7g.117592645A>TCA368981618CFTRc.2478A>T (p.Glu826Asp)
c.*2192A>T (n.*2192A>T)
c.2295A>T (p.Glu765Asp)
c.*778A>T (n.*778A>T)
c.*2302A>T (n.*2302A>T)
c.2052A>T (p.Glu684Asp)
c.69A>T (p.Glu23Asp)
c.128A>T
c.1402-10181A>T (n.1402-10181A>T)
c.2388A>T (p.Glu796Asp)
c.2568A>T (p.Glu856Asp)
c.2235A>T (p.Glu745Asp)
7g.117592646G>ACA368981629CFTRc.2479G>A (p.Glu827Lys)
c.*2193G>A (n.*2193G>A)
c.2296G>A (p.Glu766Lys)
c.*779G>A (n.*779G>A)
c.*2303G>A (n.*2303G>A)
c.2053G>A (p.Glu685Lys)
c.70G>A (p.Glu24Lys)
c.129G>A
c.1402-10180G>A (n.1402-10180G>A)
c.2389G>A (p.Glu797Lys)
c.2569G>A (p.Glu857Lys)
c.2236G>A (p.Glu746Lys)
 gnomAD v3 gnomAD v4
7g.117592646G>CCA368981641CFTRc.2479G>C (p.Glu827Gln)
c.*2193G>C (n.*2193G>C)
c.2296G>C (p.Glu766Gln)
c.*779G>C (n.*779G>C)
c.*2303G>C (n.*2303G>C)
c.2053G>C (p.Glu685Gln)
c.70G>C (p.Glu24Gln)
c.129G>C
c.1402-10180G>C (n.1402-10180G>C)
c.2389G>C (p.Glu797Gln)
c.2569G>C (p.Glu857Gln)
c.2236G>C (p.Glu746Gln)
7g.117592646G=CA1737395769CFTRc.2479G= (p.Glu827=)
c.*2193G= (n.*2193G=)
c.2296G= (p.Glu766=)
c.*779G= (n.*779G=)
c.*2303G= (n.*2303G=)
c.2053G= (p.Glu685=)
c.70G= (p.Glu24=)
c.129G=
c.1402-10180G= (n.1402-10180G=)
c.2389G= (p.Glu797=)
c.2569G= (p.Glu857=)
c.2236G= (p.Glu746=)
7g.117592646G>TCA325553CFTRc.2479G>T (p.Glu827Ter)
c.*2193G>T (n.*2193G>T)
c.2296G>T (p.Glu766Ter)
c.*779G>T (n.*779G>T)
c.*2303G>T (n.*2303G>T)
c.2053G>T (p.Glu685Ter)
c.70G>T (p.Glu24Ter)
c.129G>T
c.1402-10180G>T (n.1402-10180G>T)
c.2389G>T (p.Glu797Ter)
c.2569G>T (p.Glu857Ter)
c.2236G>T (p.Glu746Ter)
 ClinVar dbSNP

Number of alleles fetched